Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)	SNV Germline	Chr13:23324513	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339932	rs_104894422	10 SubmittersRCV000002083 RCV001090241
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)	SNV Germline	Chr13:23324452	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2C Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA220515	rs_104894423	14 SubmittersRCV000002086 RCV000078408 RCV004766977 RCV005480313
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)	SNV Germline	Chr11:22255485	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy ANO5-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA224408	rs_137854524	10 SubmittersRCV000002246 RCV000082843 RCV000762831 RCV001851575 RCV003234889 RCV004732524
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	SNV Germline	Chr11:22236206	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided ANO5-related disorder Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Hereditary fructosuria Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy Acute rhabdomyolysis Nonpapillary renal cell carcinoma Ovarian serous cystadenocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA224418	rs_137854523	30 SubmittersRCV000002249 RCV000082853 RCV000369126 RCV000627782 RCV000825558 RCV000762830 RCV003993729 RCV003993730 RCV005865150 RCV005887208 RCV005887209
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)	SNV Germline	Chr11:22274605	Pathogenic	Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy ANO5 Muscle Disease	Reviewed By Expert Panel	CA130516	rs_137854529	22 SubmittersRCV000002250 RCV000032966 RCV000128778 RCV000811162 RCV004998071 RCV005249979
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser)	SNV Germline	Chr9:105604372	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4	Criteria Provided Multiple Submitters No Conflicts	CA116061	rs_119463996	3 SubmittersRCV000003358 RCV000626166 RCV005409594
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)	SNV Germline	Chr9:105617968	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2M Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Dilated cardiomyopathy 1X Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Dilated cardiomyopathy 1X Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Criteria Provided Multiple Submitters No Conflicts	CA116072	rs_119463992	10 SubmittersRCV000003362 RCV000724028 RCV001036532 RCV001192872 RCV001254647 RCV003466793 RCV004991964 RCV005041974 RCV006261717
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr)	SNV Germline	Chr9:105601319	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Walker-Warburg congenital muscular dystrophy	Criteria Provided Single Submitter	CA116076	rs_119463995	3 SubmittersRCV000003368 RCV000675045 RCV001851612
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)	SNV Germline	Chr9:105620001	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2M Dilated cardiomyopathy 1X Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Dilated cardiomyopathy 1X Autosomal recessive limb-girdle muscular dystrophy type 2M Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Criteria Provided Conflicting Classifications	CA116084	rs_119464998	10 SubmittersRCV000003370 RCV000554503 RCV002433443 RCV004566677 RCV003466794 RCV005632154 RCV005041975
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)	SNV Germline	Chr9:105617967	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Autosomal recessive limb-girdle muscular dystrophy type 2M Dilated cardiomyopathy 1X Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4	Criteria Provided Multiple Submitters No Conflicts	CA116088	rs_267606814	13 SubmittersRCV000003371 RCV000498134 RCV000795218 RCV002444418 RCV003466795 RCV004819203 RCV005003319
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)	SNV Germline	Chr14:77278849	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N	Criteria Provided Multiple Submitters No Conflicts	CA252628	rs_119463989	6 SubmittersRCV000003373 RCV000336243 RCV003230345 RCV005003320
NM_013382.7(POMT2):c.1006+1G>A	SNV Germline	Chr14:77298688	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N	Criteria Provided Multiple Submitters No Conflicts	CA252631	rs_533916138	6 SubmittersRCV000003374 RCV000379703 RCV001203685
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)	SNV Germline	Chr14:77278764	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Condition: not provided Muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N POMT2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA116093	rs_200198778	11 SubmittersRCV000003377 RCV000003376 RCV000081569 RCV000193219 RCV000648175 RCV003398429
NM_013382.7(POMT2):c.2177G>A (p.Gly726Glu)	SNV Germline	Chr14:77277452	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N	Criteria Provided Single Submitter	CA116095	rs_267606969	2 SubmittersRCV000003378 RCV000030874 RCV005222664
NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg)	SNV Germline	Chr14:77277387	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N	Criteria Provided Multiple Submitters No Conflicts	CA116100	rs_267606964	3 SubmittersRCV000003380 RCV000551490
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro)	SNV Germline	Chr14:77288777	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N	Criteria Provided Conflicting Classifications	CA223063	rs_190285831	7 SubmittersRCV000003381 RCV000081563 RCV001240349
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)	SNV Germline	Chr14:77302940	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2N Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N Intellectual disability Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	Criteria Provided Multiple Submitters No Conflicts	CA223089	rs_267606971	10 SubmittersRCV000003385 RCV000723643 RCV001203060 RCV001252357 RCV004700184 RCV003472965
NM_013382.7(POMT2):c.248+5G>C	SNV Germline	Chr14:77320429	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N	Criteria Provided Single Submitter	CA116104	rs_587777816	2 SubmittersRCV000003390 RCV003764520
NM_013382.7(POMT2):c.1333-14G>A	SNV Germline	Chr14:77285646	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Autosomal recessive limb-girdle muscular dystrophy type 2N Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2	Criteria Provided Multiple Submitters No Conflicts	CA263823667	rs_918556979	4 SubmittersRCV000003391 RCV001851613 RCV003480018
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg)	SNV Germline	Chr9:131506217	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA278040	rs_28941782	3 SubmittersRCV000003394 RCV001171882 RCV005055501
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)	SNV Germline	Chr9:131510401	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Abnormality of the musculature Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Multiple Submitters No Conflicts	CA278042	rs_119462981	6 SubmittersRCV000003395 RCV001813941 RCV003231073 RCV003764521
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)	SNV Germline	Chr9:131509801	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Abnormality of the nervous system Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Multiple Submitters No Conflicts	CA203493	rs_119462982	12 SubmittersRCV000003399 RCV000179928 RCV001385876 RCV001264826 RCV001813942 RCV003234890 RCV003472966 RCV005357065
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)	SNV Germline	Chr9:131506184	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116108	rs_119462983	4 SubmittersRCV002512705 RCV002286389 RCV003460408 RCV005887254
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)	SNV Germline	Chr9:131518945	Pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2K	Criteria Provided Multiple Submitters No Conflicts	CA116110	rs_119462985	5 SubmittersRCV000760355 RCV001851614 RCV002286390 RCV005041976
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)	SNV Germline	Chr9:131521351	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K not specified	Criteria Provided Conflicting Classifications	CA116112	rs_119462986	4 SubmittersRCV000175324 RCV002286391 RCV003764522 RCV006456598
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)	SNV Germline	Chr9:131522160	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Criteria Provided Multiple Submitters No Conflicts	CA116114	rs_119462987	8 SubmittersRCV000414180 RCV000694423 RCV002286394 RCV003460409
NM_001077365.2(POMT1):c.1175+1G>A	SNV Germline	Chr9:131513332	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2K Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA200787505	rs_1051679985	4 SubmittersRCV001383583 RCV002286395 RCV003472967 RCV005055502
NM_017739.4(POMGNT1):c.1413+1G>T	SNV Germline	Chr1:46192307	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA116538	rs_587777821	2 SubmittersRCV001377279 RCV001847568
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)	SNV Germline	Chr1:46190473	Pathogenic/Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116540	rs_193919335	4 SubmittersRCV000169201 RCV001847570 RCV005406722
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)	SNV Germline	Chr1:46192397	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy Autosomal recessive limb-girdle muscular dystrophy Retinal dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA116547	rs_28940869	12 SubmittersRCV000150001 RCV000984303 RCV000984302 RCV000984210 RCV000984301 RCV001219572 RCV001847573 RCV002512738 RCV002222337 RCV004814821 RCV005025002
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)	SNV Germline	Chr1:46193873	Pathogenic/Likely pathogenic	Muscle eye brain disease Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA211242	rs_193919336	10 SubmittersRCV000049989 RCV001582464 RCV001370524 RCV001847574 RCV002509144 RCV002512739 RCV005862697
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)	SNV Germline	Chr1:46197018	Pathogenic	Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76	Criteria Provided Multiple Submitters No Conflicts	CA116550	rs_193919337	7 SubmittersRCV000240891 RCV001390610 RCV001529546 RCV001847575 RCV004566681 RCV005016236
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	SNV Germline	Chr1:46189973	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O not specified Condition: not provided Muscle eye brain disease Congenital Muscular Dystrophy, alpha-dystroglycan related Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Structural eye disease	Criteria Provided Conflicting Classifications	CA116557	rs_74374973	16 SubmittersRCV000004204 RCV000081801 RCV000710195 RCV000671438 RCV001097781 RCV001082774 RCV001579238 RCV001579237 RCV001449938 RCV005400692
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)	SNV Germline	Chr1:46189539	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Condition: not provided Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA116560	rs_267606962	9 SubmittersRCV000004205 RCV000671290 RCV000824425 RCV001268426 RCV002512740 RCV003322587
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)	SNV Germline	Chr1:46192168	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Condition: not provided Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 POMGNT1-related disorder Muscular dystrophy-dystroglycanopathy	Criteria Provided Multiple Submitters No Conflicts	CA116564	rs_267606960	11 SubmittersRCV000004207 RCV000411094 RCV000798530 RCV001091843 RCV002476922 RCV003460424 RCV004532285 RCV002512742
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter)	SNV Germline	Chr19:46756604	Pathogenic/Likely pathogenic	Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I	Criteria Provided Multiple Submitters No Conflicts	CA116697	rs_104894680	6 SubmittersRCV000634067 RCV002226439 RCV003137491 RCV003460427 RCV003352746 RCV005025007
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)	SNV Germline	Chr19:46756793	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy type B5 Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116699	rs_104894681	7 SubmittersRCV000360542 RCV000763056 RCV002226440 RCV002381242 RCV003466807 RCV003591620
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	SNV Germline	Chr19:46756276	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy Limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy type B5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 8 conditions Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Myopathy Autosomal recessive limb-girdle muscular dystrophy Cardiovascular phenotype Myopathy caused by variation in FKRP FKRP-related disorder Neuronopathy, distal hereditary motor, type 2B FKRP-related muscular dystrophy-dystroglycanopathy Hereditary skeletal muscle disorder Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy type B5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Nizon-Isidor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA116701	rs_28937900	51 SubmittersRCV000004442 RCV000082182 RCV000231711 RCV000503787 RCV000612115 RCV000660622 RCV000626960 RCV001329320 RCV001197775 RCV001526640 RCV002222338 RCV002408451 RCV003993736 RCV004532287 RCV004776425 RCV005401279 RCV005624670 RCV005357072 RCV004776426
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)	SNV Germline	Chr19:46756936	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116704	rs_104894682	6 SubmittersRCV000004444 RCV000471321 RCV000501528 RCV000725596 RCV002222339
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)	SNV Germline	Chr19:46756396	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Condition: not provided Walker-Warburg congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116706	rs_28937901	5 SubmittersRCV000004445 RCV000675047 RCV003144104 RCV003591621
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)	SNV Germline	Chr19:46756814	Pathogenic	Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Criteria Provided Multiple Submitters No Conflicts	CA116710	rs_28937903	11 SubmittersRCV000004447 RCV000201040 RCV000532707 RCV000597675 RCV003466808
NM_024301.5(FKRP):c.1213G>T (p.Val405Leu)	SNV Germline	Chr19:46756663	Likely pathogenic	Muscular dystrophy-dystroglycanopathy type B5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Autosomal recessive limb-girdle muscular dystrophy type 2I	Criteria Provided Single Submitter	CA116712	rs_28937904	3 SubmittersRCV000004448 RCV003466809 RCV005614366
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)	SNV Germline	Chr19:46755610	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Walker-Warburg congenital muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116714	rs_28937905	5 SubmittersRCV000004449 RCV003591622 RCV004700187
NM_024301.5(FKRP):c.235G>A (p.Val79Met)	SNV Germline	Chr19:46755685	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2I not specified Condition: not provided Walker-Warburg congenital muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA116716	rs_104894683	16 SubmittersRCV000004450 RCV000236146 RCV000513718 RCV001083979 RCV002444421
NM_024301.5(FKRP):c.764G>A (p.Trp255Ter)	SNV Germline	Chr19:46756214	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I	No Assertion Criteria Provided	CA116718	rs_104894689	1 SubmittersRCV000004451
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)	SNV Germline	Chr19:46756349	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2I Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Cardiovascular phenotype Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I	Criteria Provided Multiple Submitters No Conflicts	CA116722	rs_104894691	14 SubmittersRCV000004453 RCV000732974 RCV000814162 RCV001813735 RCV002371759 RCV003466810 RCV003155013 RCV005003334
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)	SNV Germline	Chr19:46756369	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Autosomal recessive limb-girdle muscular dystrophy type 2I Condition: not provided Walker-Warburg congenital muscular dystrophy FKRP-related disorder Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116724	rs_104894692	8 SubmittersRCV000004454 RCV000004455 RCV000494504 RCV000805125 RCV000844942 RCV003488324
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)	SNV Germline	Chr19:46756837	Pathogenic/Likely pathogenic	Muscular dystrophy Condition: not provided Walker-Warburg congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy type B5 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy type 2I Muscular dystrophy-dystroglycanopathy type B5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA116728	rs_121908110	13 SubmittersRCV000194089 RCV000178346 RCV000540601 RCV001254718 RCV001273521 RCV002226441 RCV002490307 RCV003114175 RCV003460429 RCV004018553
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)	SNV Germline	Chr17:39665762	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2G Hypertrophic cardiomyopathy 25 Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 25 Primary familial hypertrophic cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2G Hypertrophic cardiomyopathy 25 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA117567	rs_104894655	7 SubmittersRCV000005861 RCV000037790 RCV000211741 RCV001380074 RCV002496272 RCV005749510
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter)	SNV Germline	Chr2:71553071	Pathogenic	Miyoshi muscular dystrophy 1 Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA253901	rs_121908953	4 SubmittersRCV000007047 RCV000301362 RCV003574697 RCV006445460
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)	SNV Germline	Chr2:71682597	Pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Abnormality of the musculature Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA222203	rs_121908955	15 SubmittersRCV000007051 RCV000007052 RCV000080320 RCV000815134 RCV001813961 RCV005025020 RCV006252413
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)	SNV Germline	Chr2:71564074	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA222139	rs_121908956	5 SubmittersRCV000007055 RCV000007056 RCV000790785 RCV000807968 RCV005430920
NM_001130987.2(DYSF):c.5174+5G>A	SNV Germline	Chr2:71664443	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1	Reviewed By Expert Panel	CA253906	rs_745891180	6 SubmittersRCV000007057 RCV001781198 RCV002298436 RCV001851715 RCV003466824
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)	SNV Germline	Chr2:71570300	Pathogenic/Likely pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA222147	rs_28937581	10 SubmittersRCV000007059 RCV000176869 RCV000790765 RCV001232546 RCV004525846 RCV005031402
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)	SNV Germline	Chr2:71570704	Pathogenic	Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA222152	rs_121908958	11 SubmittersRCV000007060 RCV000176936 RCV000763088 RCV000790688 RCV001229764 RCV006252414
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)	SNV Germline	Chr2:71674242	Pathogenic	Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy Distal myopathy with anterior tibial onset Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy type 2B	Criteria Provided Multiple Submitters No Conflicts	CA118412	rs_121908959	14 SubmittersRCV000007062 RCV000007063 RCV000007061 RCV000080312 RCV000808564 RCV003114177 RCV005025022
NM_001130987.2(DYSF):c.1927G>T (p.Asp643Tyr)	SNV Germline	Chr2:71553131	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B	No Assertion Criteria Provided	CA253909	rs_121908960	1 SubmittersRCV000007064
NM_001130987.2(DYSF):c.5318A>G (p.Glu1773Gly)	SNV Germline	Chr2:71667376	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B	No Assertion Criteria Provided	CA253911	rs_121908961	1 SubmittersRCV000007065
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)	SNV Germline	Chr2:71551073	Pathogenic	Miyoshi muscular dystrophy 1 Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA253913	rs_121908962	8 SubmittersRCV000007066 RCV000342783 RCV001048974 RCV005237357
NM_001130987.2(DYSF):c.3497-33A>G	SNV Germline	Chr2:71590178	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B	No Assertion Criteria Provided	CA253915	rs_786205083	1 SubmittersRCV000007067
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)	SNV Germline	Chr2:71517028	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA253916	rs_121908963	8 SubmittersRCV000007068 RCV000726614 RCV001388966 RCV003460431 RCV006252415
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)	SNV Germline	Chr2:71517028	Pathogenic	Miyoshi muscular dystrophy 1 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA253918	rs_121908963	5 SubmittersRCV000007069 RCV000594920 RCV003159090 RCV006252416
NM_001130987.2(DYSF):c.1381-2A>G	SNV Germline	Chr2:71535019	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA253920	rs_786200897	4 SubmittersRCV000007070 RCV003574698 RCV005430921
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)	SNV Germline	Chr19:10793832	Pathogenic	Autosomal dominant centronuclear myopathy Centronuclear myopathy Charcot-Marie-Tooth disease dominant intermediate B Charcot-Marie-Tooth disease Condition: not provided Limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA118658	rs_121909090	11 SubmittersRCV000007703 RCV000145899 RCV000641108 RCV001027496 RCV001537068 RCV005624680
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)	SNV Germline	Chr5:156595042	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2F Autosomal recessive limb-girdle muscular dystrophy type 2F Dilated cardiomyopathy 1L Condition: not provided Dilated cardiomyopathy 1L Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA340747	rs_121909295	9 SubmittersRCV000008650 RCV000664788 RCV000760352 RCV003473058 RCV004998079
NM_000337.6(SGCD):c.89G>A (p.Trp30Ter)	SNV Germline	Chr5:156344574	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2F	Criteria Provided Single Submitter	CA340750	rs_121909296	2 SubmittersRCV000008651
NM_000337.6(SGCD):c.784G>A (p.Glu262Lys)	SNV Germline	Chr5:156759301	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2F Dilated cardiomyopathy 1L	Criteria Provided Multiple Submitters No Conflicts	CA340753	rs_121909297	3 SubmittersRCV000008652 RCV004566697
NM_000337.6(SGCD):c.391G>C (p.Ala131Pro)	SNV Germline	Chr5:156594940	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2F	No Assertion Criteria Provided	CA340756	rs_267607045	1 SubmittersRCV000008656
NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp)	SNV Germline	Chr8:143924012	Pathogenic	Epidermolysis bullosa simplex, Ogna type Condition: not provided Simplex epidermolysis bullosa_Ogna type Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type	Criteria Provided Multiple Submitters No Conflicts	CA340759	rs_80338756	8 SubmittersRCV000008751 RCV000519116 RCV001352838 RCV001381863
NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter)	SNV Germline	Chr8:143920817	Pathogenic	Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia	Criteria Provided Single Submitter	CA249467	rs_137853161	2 SubmittersRCV000008755 RCV001851744
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)	SNV Germline	Chr3:8745627	Conflicting classifications of pathogenicity	Rippling muscle disease 2 Condition: not provided not specified Limb-girdle muscular dystrophy Cardiovascular phenotype Hypertrophic cardiomyopathy 1 Elevated circulating creatine kinase concentration Distal myopathy, Tateyama type Long QT syndrome 9 Rippling muscle disease 2 Long QT syndrome 1 Cardiomyopathy Long QT syndrome Caveolinopathy CAV3-related disorder	Criteria Provided Conflicting Classifications	CA175393	rs_116840776	20 SubmittersRCV000008769 RCV000024381 RCV000150236 RCV000171752 RCV000249612 RCV000477819 RCV000987087 RCV000769171 RCV001084478 RCV001144018 RCV003952349
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)	SNV Germline	Chr4:52028899	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2E Condition: not provided Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA119849	rs_28936383	8 SubmittersRCV000009250 RCV000598498 RCV004998080
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter)	SNV Germline	Chr4:52028799	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2E	Criteria Provided Single Submitter	CA119851	rs_104893868	3 SubmittersRCV000009251
NM_000232.5(SGCB):c.272G>C (p.Arg91Pro)	SNV Germline	Chr4:52029835	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2E	No Assertion Criteria Provided	CA119854	rs_104893869	1 SubmittersRCV000009254
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg)	SNV Germline	Chr4:52029784	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2E Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA119856	rs_104893870	3 SubmittersRCV000009255 RCV006456607
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)	SNV Germline	Chr4:52029808	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2E	Criteria Provided Multiple Submitters No Conflicts	CA119858	rs_104893871	6 SubmittersRCV000009256
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu)	SNV Germline	Chr4:52029835	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2E Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA119860	rs_104893869	3 SubmittersRCV000009257 RCV000727513
NM_000023.4(SGCA):c.293G>A (p.Arg98His)	SNV Germline	Chr17:50167717	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D Condition: not provided Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA120423	rs_137852621	11 SubmittersRCV000010042 RCV000725507 RCV002307361
NM_000023.4(SGCA):c.524T>C (p.Val175Ala)	SNV Germline	Chr17:50168512	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D	No Assertion Criteria Provided	CA120425	rs_137852622	1 SubmittersRCV000010043
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)	SNV Germline	Chr17:50167653	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D Condition: not provided Sarcoglycanopathy Abnormality of the musculature Autosomal recessive limb-girdle muscular dystrophy Limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA120427	rs_28933693	30 SubmittersRCV000010044 RCV000077937 RCV000779225 RCV001813971 RCV003987316 RCV005624683
NM_000023.4(SGCA):c.410A>G (p.Glu137Gly)	SNV Germline	Chr17:50168398	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D	No Assertion Criteria Provided	CA120429	rs_397514451	1 SubmittersRCV000010045
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)	SNV Germline	Chr17:50170245	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D Condition: not provided Sarcoglycanopathy Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA120431	rs_137852623	17 SubmittersRCV000010046 RCV000498385 RCV000778108 RCV001194149
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)	SNV Germline	Chr2:178527121	Likely pathogenic	Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Primary familial dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA341209	rs_267607156	6 SubmittersRCV000013489 RCV001378935 RCV001781256 RCV005237373
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)	SNV Germline	Chr2:178527148	Pathogenic/Likely pathogenic	Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Multiple Submitters No Conflicts	CA341213	rs_281864928	5 SubmittersRCV000013490 RCV001319595 RCV004767005
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn)	SNV Germline	Chr2:178738114	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1G Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Conflicting Classifications	CA256521	rs_147879266	6 SubmittersRCV000013494 RCV000733710 RCV001089351 RCV004734516
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)	SNV Germline	Chr2:178799566	Conflicting classifications of pathogenicity	Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Cardiomyopathy Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA256527	rs_138060032	19 SubmittersRCV000013495 RCV000172493 RCV000219791 RCV000468349 RCV000617531 RCV000769143 RCV001131435 RCV001134416 RCV001134417 RCV001134418
NM_001927.4(DES):c.1154T>C (p.Leu385Pro)	SNV Germline	Chr2:219421470	Likely pathogenic	Condition: not provided Desmin-related myofibrillar myopathy Limb-girdle muscular dystrophy	Criteria Provided Single Submitter	CA217023	rs_57955682	3 SubmittersRCV000056775 RCV002265562 RCV005624695
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)	SNV Germline	Chr15:42410926	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A	Reviewed By Expert Panel	CA127306	rs_80338802	15 SubmittersRCV000020096 RCV000711017 RCV003473106 RCV005406749 RCV005007872
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)	SNV Germline	Chr15:42402972	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts	CA341470	rs_121434544	14 SubmittersRCV000019180 RCV000726518 RCV001198825 RCV003323362 RCV005357147
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)	SNV Germline	Chr15:42384501	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided	Reviewed By Expert Panel	CA341471	rs_121434545	12 SubmittersRCV000019181 RCV001813749 RCV004998102 RCV005007873 RCV005630707
NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe)	SNV Germline	Chr15:42360062	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter	CA341473	rs_121434546	2 SubmittersRCV000019182
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)	SNV Germline	Chr15:42392649	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Muscular dystrophy, limb-girdle, autosomal dominant 4 Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Multiple Submitters No Conflicts	CA341474	rs_121434547	8 SubmittersRCV000019183 RCV000417420 RCV003473107 RCV005007874
NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys)	SNV Germline	Chr15:42394306	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	No Assertion Criteria Provided	CA341475	rs_267606703	1 SubmittersRCV000019186
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	SNV Germline	Chr15:42401755	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, autosomal dominant 4 Autosomal recessive limb-girdle muscular dystrophy type 2A Muscular dystrophy, limb-girdle, autosomal dominant 4	Reviewed By Expert Panel	CA341479	rs_121434548	17 SubmittersRCV000019189 RCV000724646 RCV002222356 RCV002490391 RCV003473110
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)	SNV Germline	Chr2:71668842	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B Condition: not provided Neuromuscular disease caused by qualitative or quantitative defects of dysferlin Distal myopathy with anterior tibial onset Autosomal recessive limb-girdle muscular dystrophy type 2B Miyoshi muscular dystrophy 1 Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA253922	rs_786205084	7 SubmittersRCV000007073 RCV000723469 RCV001215439 RCV002476993 RCV006252426
NM_000070.3(CAPN3):c.946-1G>A	SNV Germline	Chr15:42392638	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	Criteria Provided Single Submitter	CA341532	rs_80338801	2 SubmittersRCV000020097
NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter)	SNV Germline	Chr8:143923055	Pathogenic	Epidermolysis bullosa simplex 5B, with muscular dystrophy Condition: not provided Epidermolysis bullosa simplex 5C, with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with nail dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA249711	rs_387906802	5 SubmittersRCV000023092 RCV001007967 RCV001387924 RCV002273816
NM_058246.4(DNAJB6):c.277T>C (p.Phe93Leu)	SNV Germline	Chr7:157367414	Pathogenic	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Criteria Provided Single Submitter	CA259939	rs_387907046	2 SubmittersRCV000023891
NM_058246.4(DNAJB6):c.287C>G (p.Pro96Arg)	SNV Germline	Chr7:157367424	Pathogenic	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA259941	rs_387907047	3 SubmittersRCV000023892 RCV000594360
NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu)	SNV Germline	Chr7:157367416	Pathogenic	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA260014	rs_149278319	9 SubmittersRCV000024240 RCV000498905
NM_058246.4(DNAJB6):c.279C>A (p.Phe93Leu)	SNV Germline	Chr7:157367416	Pathogenic	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA260015	rs_149278319	4 SubmittersRCV000024241 RCV000414366
NM_058246.4(DNAJB6):c.265T>A (p.Phe89Ile)	SNV Germline/somatic	Chr7:157367402	Pathogenic	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) Condition: not provided Ehlers-Danlos syndrome, classic type, 2 Ehlers-Danlos syndrome, classic type, 1	Criteria Provided Multiple Submitters No Conflicts	CA260016	rs_387907150	7 SubmittersRCV000024242 RCV000724639 RCV005428994
NM_001101426.4(CRPPA):c.1120-1G>T	SNV Germline	Chr7:16216198	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2U Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	Criteria Provided Multiple Submitters No Conflicts	CA260022	rs_397515396	4 SubmittersRCV000024269 RCV000344890 RCV000650387
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter)	SNV Germline	Chr7:16301454	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2U Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	Criteria Provided Multiple Submitters No Conflicts	CA260031	rs_368593151	4 SubmittersRCV000024276 RCV000591620 RCV005222703
NM_004393.6(DAG1):c.1773C>T (p.Phe591=)	SNV Germline	Chr3:49532284	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 Autosomal recessive limb-girdle muscular dystrophy type 2P	Criteria Provided Conflicting Classifications	CA215252	rs_2229010	5 SubmittersRCV000024447 RCV001088550
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)	SNV Germline	Chr17:50168562	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D Condition: not provided Abnormality of the musculature Autosomal recessive limb-girdle muscular dystrophy	Reviewed By Expert Panel	CA130100	rs_387907298	10 SubmittersRCV000030783 RCV000730723 RCV001836716 RCV004998112
NM_213599.3(ANO5):c.1407+5G>A	SNV Germline	Chr11:22257759	Pathogenic/Likely pathogenic	Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA343748	rs_281865464	4 SubmittersRCV000032968 RCV000032553 RCV001091512 RCV006555352
NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp)	SNV Germline	Chr9:131508913	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2K	No Assertion Criteria Provided	CA211169	rs_397514501	1 SubmittersRCV000032629
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)	SNV Germline	Chr4:52029766	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2E Condition: not provided Qualitative or quantitative defects of beta-sarcoglycan Inborn genetic diseases Limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA202230	rs_150518260	20 SubmittersRCV000177020 RCV000271872 RCV000340831 RCV001267013 RCV005862742 RCV006456637
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)	SNV Germline	Chr5:156759365	Conflicting classifications of pathogenicity	not specified Condition: not provided Qualitative or quantitative defects of delta-sarcoglycan Hypertrophic cardiomyopathy 1 Autosomal recessive limb-girdle muscular dystrophy type 2F Primary dilated cardiomyopathy SGCD-related disorder	Criteria Provided Conflicting Classifications	CA132475	rs_397516338	10 SubmittersRCV000036266 RCV000172107 RCV000365095 RCV000584814 RCV001084187 RCV001293129 RCV003944896
NM_003673.4(TCAP):c.458G>A (p.Arg153His)	SNV Germline	Chr17:39666063	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy 25 Hypertrophic cardiomyopathy 25 Autosomal recessive limb-girdle muscular dystrophy type 2G Condition: not provided Hypertrophic cardiomyopathy 25 Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA134926	rs_149585781	7 SubmittersRCV000037797 RCV000170302 RCV000765349 RCV000766898 RCV001087199 RCV002336134
NM_003673.4(TCAP):c.60C>G (p.Ala20=)	SNV Germline	Chr17:39665419	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Hypertrophic cardiomyopathy 25 Autosomal recessive limb-girdle muscular dystrophy type 2G Condition: not provided Hypertrophic cardiomyopathy 25 Primary familial hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA134937	rs_146502276	16 SubmittersRCV000037801 RCV000248291 RCV000275117 RCV000385933 RCV000723762 RCV001081526
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr)	SNV Germline	Chr2:178527235	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided Cardiovascular phenotype TTN-related disorder not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA138642	rs_193212275	9 SubmittersRCV000769835 RCV001509175 RCV002408527 RCV004534848 RCV000039843 RCV000464810
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=)	SNV Germline	Chr2:178527222	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA138647	rs_147293964	13 SubmittersRCV000039844 RCV000245995 RCV000464935 RCV001131348 RCV001131347 RCV001131346 RCV001134349 RCV001134350 RCV001528464 RCV004534849
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)	SNV Germline	Chr2:178764203	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA138655	rs_148169214	12 SubmittersRCV000039847 RCV000172723 RCV001081037 RCV001129648 RCV001129650 RCV001129649 RCV001129651 RCV001134674 RCV002381318
NM_001267550.2(TTN):c.10114+5G>A	SNV Germline	Chr2:178764172	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Condition: not provided TTN-related myopathy Lung cancer	Criteria Provided Conflicting Classifications	CA282639	rs_115985443	20 SubmittersRCV000039849 RCV000228929 RCV000247922 RCV000769098 RCV001133198 RCV001133199 RCV001133201 RCV001133200 RCV001133202 RCV001171818 RCV003993762 RCV005890137
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=)	SNV Germline	Chr2:178759099	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA282640	rs_183336802	15 SubmittersRCV000039850 RCV000585488 RCV001081342 RCV001133087 RCV001136534 RCV001136536 RCV001136533 RCV001136535 RCV001798128 RCV002399384
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=)	SNV Germline	Chr2:178759045	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA282647	rs_45447891	20 SubmittersRCV000039851 RCV000233026 RCV000246467 RCV000769097 RCV001080637 RCV001132162 RCV001132163 RCV001133086 RCV001132164 RCV001133085
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln)	SNV Germline	Chr2:178738264	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA138666	rs_202017278	5 SubmittersRCV000039854 RCV000172413 RCV000474160
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)	SNV Germline	Chr2:178738221	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure	Criteria Provided Conflicting Classifications	CA138670	rs_55906845	16 SubmittersRCV000039855 RCV000185316 RCV000554346 RCV000619842 RCV000769089 RCV001132041 RCV001132979 RCV001132980 RCV001132981 RCV001132982
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn)	SNV Germline	Chr2:178735913	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA138675	rs_373378672	9 SubmittersRCV000039858 RCV000534664 RCV000724172 RCV001132890 RCV001132891 RCV001136315 RCV001136316 RCV001136317 RCV004724766
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)	SNV Germline	Chr2:178735911	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy	Criteria Provided Conflicting Classifications	CA138679	rs_184307461	12 SubmittersRCV000039859 RCV000727735 RCV001085828 RCV001798129
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser)	SNV Germline	Chr2:178735576	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure TTN-related disorder	Criteria Provided Conflicting Classifications	CA138697	rs_72648925	20 SubmittersRCV000039864 RCV000172700 RCV000245398 RCV000769085 RCV001083213 RCV001131803 RCV001131799 RCV001131800 RCV001131801 RCV001131802 RCV004534850
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys)	SNV Germline	Chr2:178734926	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided	Criteria Provided Conflicting Classifications	CA138702	rs_369933152	6 SubmittersRCV000039866 RCV000539374 RCV001719762
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)	SNV Germline	Chr2:178795030	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Condition: not provided Tip-toe gait TTN-related myopathy 6 conditions	Criteria Provided Conflicting Classifications	CA138707	rs_55972547	21 SubmittersRCV000039867 RCV000226691 RCV000248787 RCV000769138 RCV001130574 RCV001130575 RCV001135664 RCV001135666 RCV001135665 RCV001528655 RCV002225276 RCV003993763 RCV005394227
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)	SNV Germline	Chr2:178734746	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Condition: not provided Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy Supraventricular tachycardia Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tip-toe gait TTN-related myopathy	Criteria Provided Conflicting Classifications	CA138719	rs_72648929	22 SubmittersRCV000039869 RCV000245443 RCV000273361 RCV000277012 RCV000331058 RCV000356589 RCV000416068 RCV000369337 RCV000769081 RCV000852913 RCV001079457 RCV002227928 RCV003993764
NM_001267550.2(TTN):c.15496+1G>A	SNV Germline	Chr2:178734327	Pathogenic/Likely pathogenic	Neuromuscular disease Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Multiple Submitters No Conflicts	CA138728	rs_397517481	2 SubmittersRCV000039871 RCV001245126
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)	SNV Germline	Chr2:178733826	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tip-toe gait TTN-related disorder Congenital myopathy Hereditary skeletal muscle disorder	Criteria Provided Conflicting Classifications	CA211174	rs_72648930	20 SubmittersRCV000039873 RCV000126097 RCV001082361 RCV001134549 RCV001134550 RCV001134551 RCV001134552 RCV001170871 RCV001131551 RCV002225075 RCV004534852 RCV005625233 RCV005625234
NM_001267550.2(TTN):c.16113T>C (p.Asn5371=)	SNV Germline	Chr2:178733063	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Conflicting Classifications	CA138759	rs_143845692	10 SubmittersRCV000039883 RCV000245367 RCV000272671 RCV000277429 RCV000327716 RCV000367309 RCV000381306 RCV000469089 RCV001086930 RCV004541133
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met)	SNV Germline	Chr2:178732873	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Heart failure Condition: not provided	Criteria Provided Conflicting Classifications	CA282698	rs_72648937	21 SubmittersRCV000039884 RCV000242487 RCV000293024 RCV000333991 RCV000318931 RCV000387402 RCV000387868 RCV000458298 RCV000770101 RCV000852911 RCV001529446
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)	SNV Germline	Chr2:178732863	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138763	rs_190636272	16 SubmittersRCV000039885 RCV000172406 RCV001080301 RCV001130571 RCV001130572 RCV001130573 RCV001130570 RCV001135657 RCV003149638 RCV004541134
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)	SNV Germline	Chr2:178732515	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Primary dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138772	rs_72648940	16 SubmittersRCV000039888 RCV000172697 RCV000249224 RCV000660557 RCV000852909 RCV001081556 RCV001131186 RCV001131188 RCV001131189 RCV001131187 RCV001170649 RCV004534854
NM_001267550.2(TTN):c.16621+7A>T	SNV Germline	Chr2:178732433	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy TTN-related disorder	Criteria Provided Conflicting Classifications	CA282703	rs_10200398	16 SubmittersRCV000039889 RCV000474528 RCV001130461 RCV001085418 RCV001135532 RCV001135534 RCV001135531 RCV001135533 RCV004534855
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)	SNV Germline	Chr2:178731827	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Brugada syndrome Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder Sarcoma	Criteria Provided Conflicting Classifications	CA138781	rs_72648942	24 SubmittersRCV000039891 RCV000118738 RCV000252018 RCV000284293 RCV000297377 RCV000336946 RCV000335998 RCV000394055 RCV000770092 RCV000852908 RCV001081837 RCV004534856 RCV005890138
NM_001267550.2(TTN):c.17183-7C>T	SNV Germline	Chr2:178731590	Conflicting classifications of pathogenicity	not specified Left ventricular noncompaction cardiomyopathy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA138786	rs_371785683	12 SubmittersRCV000039892 RCV000157571 RCV000272411 RCV000285166 RCV000324946 RCV000342528 RCV000381839 RCV000471462 RCV001170647 RCV001815173
NM_001267550.2(TTN):c.17183-9T>C	SNV Germline	Chr2:178731592	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA232536	rs_141687561	15 SubmittersRCV000039893 RCV000230568 RCV001135409 RCV001135410 RCV001135411 RCV001135412 RCV001135408 RCV001529758
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)	SNV Germline	Chr2:178731542	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Hypertrophic cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138791	rs_72648943	13 SubmittersRCV000039895 RCV000205655 RCV000725312 RCV000852907 RCV001130952 RCV001133898 RCV001133899 RCV001133900 RCV001133901 RCV001798130 RCV004534857
NM_001267550.2(TTN):c.1365G>A (p.Thr455=)	SNV Germline	Chr2:178794432	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA138805	rs_145211131	5 SubmittersRCV000039898 RCV000270976 RCV000311791 RCV000368852 RCV000363227 RCV000408385 RCV000867716 RCV002381319
NM_001267550.2(TTN):c.1399-3C>T	SNV Germline	Chr2:178793544	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA138811	rs_397517486	4 SubmittersRCV000461970 RCV000039900 RCV001092344 RCV002390168
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=)	SNV Germline	Chr2:178730605	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA246489	rs_373963067	6 SubmittersRCV000039904 RCV000526756 RCV000724392 RCV003486571
NM_001267550.2(TTN):c.18173G>A (p.Arg6058His)	SNV Germline	Chr2:178730227	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA138816	rs_376012117	4 SubmittersRCV000039906 RCV000225778 RCV003436926
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)	SNV Germline	Chr2:178729493	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided	Criteria Provided Conflicting Classifications	CA138833	rs_369544339	7 SubmittersRCV000039912 RCV000545466 RCV000725041
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn)	SNV Germline	Chr2:178729411	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138838	rs_201263441	10 SubmittersRCV000039913 RCV000172695 RCV000313481 RCV000335088 RCV000370482 RCV000394105 RCV000390068 RCV001087573 RCV001170641 RCV004545740
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)	SNV Germline	Chr2:178729380	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Atrial fibrillation Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA138843	rs_72648949	22 SubmittersRCV000039914 RCV000246252 RCV000229581 RCV000289663 RCV000283432 RCV000340760 RCV000341928 RCV000380242 RCV000852902 RCV001080584 RCV001170640
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=)	SNV Germline	Chr2:178729340	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA138848	rs_146219199	13 SubmittersRCV000039915 RCV000253545 RCV000272168 RCV000329497 RCV000330701 RCV000370173 RCV000387580 RCV000462864 RCV001170639 RCV001311557
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)	SNV Germline	Chr2:178729332	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA138852	rs_184412722	20 SubmittersRCV000039916 RCV000082364 RCV000262868 RCV000302779 RCV000296922 RCV000355321 RCV000342596 RCV000852901 RCV001082917 RCV001798131
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile)	SNV Germline	Chr2:178729300	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy	Criteria Provided Conflicting Classifications	CA282728	rs_149131555	13 SubmittersRCV000039918 RCV000226134 RCV000290608 RCV000304112 RCV000345615 RCV000349032 RCV000402296 RCV000769068
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr)	SNV Germline	Chr2:178728776	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138872	rs_72648953	20 SubmittersRCV000039923 RCV000154091 RCV000769064 RCV001086633 RCV001134662 RCV001134664 RCV001134665 RCV001134666 RCV001134663 RCV004534862
NM_001267550.2(TTN):c.19356C>T (p.Ser6452=)	SNV Germline	Chr2:178728570	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA138877	rs_369275615	6 SubmittersRCV000039927 RCV000274068 RCV000325828 RCV000329256 RCV000368729 RCV000383781 RCV000865191 RCV001079227
NM_001267550.2(TTN):c.19715-4A>G	SNV Germline	Chr2:178727867	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy	Criteria Provided Conflicting Classifications	CA138885	rs_375009631	7 SubmittersRCV000039930 RCV000726302 RCV001087185 RCV003149639
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)	SNV Germline	Chr2:178727840	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy	Criteria Provided Conflicting Classifications	CA282763	rs_116572520	13 SubmittersRCV000039931 RCV000228030 RCV000294624 RCV000291004 RCV000349495 RCV000315973 RCV000385353 RCV000769059
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn)	SNV Germline	Chr2:178727615	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided	Criteria Provided Conflicting Classifications	CA138890	rs_397517493	4 SubmittersRCV000039933 RCV000643024 RCV001703895
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)	SNV Germline	Chr2:178727190	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA138899	rs_146627500	19 SubmittersRCV000039937 RCV000082367 RCV000264795 RCV000319862 RCV000260706 RCV000304724 RCV000359492 RCV000852896 RCV001082940 RCV001798132
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)	SNV Germline	Chr2:178725987	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138912	rs_149470241	18 SubmittersRCV000039940 RCV000082369 RCV001086508 RCV001132885 RCV001132886 RCV001132887 RCV001132888 RCV001132889 RCV001798133 RCV004541135
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)	SNV Germline	Chr2:178725981	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder Distal myopathy Limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA138917	rs_72648958	20 SubmittersRCV000039941 RCV000172694 RCV001079880 RCV001131917 RCV001131918 RCV001131919 RCV001132883 RCV001132884 RCV001798134 RCV004534864 RCV005625236 RCV005625235
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala)	SNV Germline	Chr2:178725406	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA138930	rs_200118743	15 SubmittersRCV000039945 RCV000172393 RCV001081728 RCV001129108 RCV001129109 RCV001129107 RCV001131791 RCV001131792 RCV001170088 RCV004018898 RCV004734557
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val)	SNV Germline	Chr2:178790799	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA138935	rs_146690035	10 SubmittersRCV000039946 RCV000172490 RCV000852945 RCV001085831 RCV001130955 RCV001130956 RCV001130957 RCV001130954 RCV001130953 RCV004541136
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)	SNV Germline	Chr2:178724356	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy	Criteria Provided Conflicting Classifications	CA282788	rs_114626713	15 SubmittersRCV000039949 RCV000713983 RCV001081389 RCV001136098 RCV001136099 RCV001136095 RCV001136096 RCV001136097 RCV003486573
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp)	SNV Germline	Chr2:178724086	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA282803	rs_72648964	16 SubmittersRCV000039952 RCV000249879 RCV000225946 RCV001128990 RCV001128991 RCV001128992 RCV001128993 RCV001128994 RCV001528458
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)	SNV Germline	Chr2:178723895	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138945	rs_201394117	15 SubmittersRCV000039953 RCV000082370 RCV000278937 RCV000275531 RCV000367843 RCV000333001 RCV000389765 RCV001079235 RCV001170083 RCV004734558
NM_001267550.2(TTN):c.21404-4A>G	SNV Germline	Chr2:178723700	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary familial hypertrophic cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure TTN-related disorder	Criteria Provided Conflicting Classifications	CA231585	rs_72648965	16 SubmittersRCV000039954 RCV000118741 RCV000143964 RCV001082089 RCV001134544 RCV001134546 RCV001134548 RCV001134545 RCV001134547 RCV004534866
NM_001267550.2(TTN):c.1776T>C (p.Asp592=)	SNV Germline	Chr2:178790732	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA138950	rs_147081804	7 SubmittersRCV000039955 RCV000555156 RCV001135275 RCV001135276 RCV001135277 RCV001135278 RCV001135274 RCV001170667 RCV001598619
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)	SNV Germline	Chr2:178723432	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138962	rs_138853909	16 SubmittersRCV000039958 RCV000269064 RCV000326449 RCV000350254 RCV000388473 RCV000384905 RCV000713986 RCV001086766 RCV001170080 RCV004534867
NM_001267550.2(TTN):c.1800+1G>A	SNV Germline	Chr2:178790707	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Condition: not provided Muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Schizophrenia	Criteria Provided Conflicting Classifications	CA261846	rs_397517497	5 SubmittersRCV000039959 RCV000184208 RCV000503453 RCV000707086 RCV005625237
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)	SNV Germline	Chr2:178722809	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided 6 conditions Cardiomyopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA138988	rs_397517500	12 SubmittersRCV000039966 RCV000643520 RCV001573334 RCV002477118 RCV003486574 RCV003319175
NM_001267550.2(TTN):c.22241-5T>C	SNV Germline	Chr2:178722551	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA138993	rs_397517501	6 SubmittersRCV000039967 RCV001396572 RCV001719763 RCV004534868
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)	SNV Germline	Chr2:178722401	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA138994	rs_183482849	13 SubmittersRCV000039969 RCV001065236 RCV001130567 RCV001130569 RCV001130568 RCV001130565 RCV001130566 RCV001507605 RCV003149640 RCV004534869
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)	SNV Germline	Chr2:178722029	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA139004	rs_72648969	22 SubmittersRCV000039973 RCV000205601 RCV000267036 RCV000320876 RCV000325323 RCV000380195 RCV000384525 RCV000770074 RCV001529752
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=)	SNV Germline	Chr2:178721051	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA282840	rs_201904848	8 SubmittersRCV000039977 RCV000287408 RCV000322519 RCV000375799 RCV000342343 RCV000377175 RCV000474181 RCV003137562
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)	SNV Germline	Chr2:178720641	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Cardiomyopathy	Criteria Provided Conflicting Classifications	CA282852	rs_72648971	14 SubmittersRCV000039982 RCV000726226 RCV001130943 RCV001084613 RCV001133896 RCV001130944 RCV001133897 RCV001133895 RCV001171041
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu)	SNV Germline	Chr2:178720585	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Hypertrophic cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA139019	rs_17452588	19 SubmittersRCV000039983 RCV000248207 RCV000278120 RCV000284280 RCV000331984 RCV000337890 RCV000372590 RCV000373899 RCV000755421 RCV000770071 RCV001529703
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=)	SNV Germline	Chr2:178720461	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA282862	rs_73038337	15 SubmittersRCV000039986 RCV000246470 RCV000463595 RCV001133767 RCV001133769 RCV001133768 RCV001133770 RCV001133771 RCV001528272 RCV003486576
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)	SNV Germline	Chr2:178720460	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Tip-toe gait TTN-related disorder	Criteria Provided Conflicting Classifications	CA139029	rs_72648973	21 SubmittersRCV000039987 RCV000154089 RCV000249580 RCV000270207 RCV000299836 RCV000305761 RCV000359255 RCV000402503 RCV001081260 RCV001171039 RCV001358669 RCV004534871
NM_001267550.2(TTN):c.23378-10C>A	SNV Germline	Chr2:178720274	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA210970	rs_72648975	10 SubmittersRCV000039988 RCV000417750 RCV001081932 RCV001130102 RCV001130804 RCV001130103 RCV001130805 RCV001130803 RCV004534872
NM_001267550.2(TTN):c.23392G>A (p.Val7798Met)	SNV Germline	Chr2:178720250	Conflicting classifications of pathogenicity	Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA139034	rs_144032104	5 SubmittersRCV001130096 RCV001135128 RCV001135129 RCV001135131 RCV001135130 RCV000039989 RCV000726274
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)	SNV Germline	Chr2:178720104	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139042	rs_149523263	19 SubmittersRCV000039991 RCV000082372 RCV000293069 RCV000335014 RCV000352590 RCV000406710 RCV000390050 RCV000852891 RCV001082941 RCV001798135
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=)	SNV Germline	Chr2:178719276	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy	Criteria Provided Conflicting Classifications	CA139052	rs_199576800	5 SubmittersRCV000039994 RCV000726463 RCV001081081 RCV001133388 RCV001133389 RCV001134858 RCV001134859 RCV001134860
NM_001267550.2(TTN):c.24344G>A (p.Ser8115Asn)	SNV Germline	Chr2:178718856	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided 6 conditions	Criteria Provided Conflicting Classifications	CA139062	rs_397517506	6 SubmittersRCV000039999 RCV000231430 RCV003137563 RCV005025092
NM_001267550.2(TTN):c.24546T>A (p.Val8182=)	SNV Germline	Chr2:178718560	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139071	rs_397517508	2 SubmittersRCV000040005 RCV000463444
NM_001267550.2(TTN):c.24639A>C (p.Gln8213His)	SNV Germline	Chr2:178718467	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided	Criteria Provided Conflicting Classifications	CA139079	rs_397517510	5 SubmittersRCV000040008 RCV000643239 RCV001531338
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly)	SNV Germline	Chr2:178718454	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure TTN-related disorder	Criteria Provided Conflicting Classifications	CA231586	rs_72648980	16 SubmittersRCV000040009 RCV000118743 RCV000248593 RCV000769055 RCV001083337 RCV001134656 RCV001134657 RCV001134658 RCV001134659 RCV001134660 RCV004534873
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)	SNV Germline	Chr2:178718186	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy 6 conditions TTN-related disorder Gastric cancer	Criteria Provided Conflicting Classifications	CA139087	rs_72648981	20 SubmittersRCV000040011 RCV000082378 RCV001085022 RCV001132271 RCV001132267 RCV001132268 RCV001132269 RCV001132270 RCV001170867 RCV001787037 RCV004534874 RCV005890151
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser)	SNV Germline	Chr2:178717787	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Conflicting Classifications	CA139118	rs_200972189	13 SubmittersRCV000040022 RCV000118744 RCV001087646 RCV004541139
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)	SNV Germline	Chr2:178717244	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139128	rs_149855485	19 SubmittersRCV000040029 RCV000082380 RCV000280234 RCV000293034 RCV000333108 RCV000374655 RCV000387544 RCV000852888 RCV001082276 RCV001798137
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn)	SNV Germline	Chr2:178717170	Conflicting classifications of pathogenicity	6 conditions not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA139137	rs_199619070	6 SubmittersRCV002496642 RCV000040031 RCV000473874 RCV000726850
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe)	SNV Germline	Chr2:178717115	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Hypertrophic cardiomyopathy 9	Criteria Provided Conflicting Classifications	CA139141	rs_201523784	12 SubmittersRCV000040032 RCV000172686 RCV001081212 RCV001132881 RCV001132882 RCV001136309 RCV001136308 RCV001136310 RCV003149643 RCV005054150
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=)	SNV Germline	Chr2:178715710	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139146	rs_150544093	15 SubmittersRCV000040034 RCV000266857 RCV000272529 RCV000321972 RCV000382248 RCV000376394 RCV000463917 RCV001083818 RCV001170864 RCV004534876
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=)	SNV Germline	Chr2:178715656	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139158	rs_372802604	7 SubmittersRCV000040038 RCV000290007 RCV000314787 RCV000345084 RCV000369514 RCV000393922 RCV000529441 RCV001697102 RCV003486578
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)	SNV Germline	Chr2:178715208	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Ventricular tachycardia Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA139162	rs_141856116	22 SubmittersRCV000040041 RCV000118746 RCV000249830 RCV000268699 RCV000327425 RCV000333139 RCV000293596 RCV000382034 RCV000852887 RCV000769050 RCV001083462 RCV004528204
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=)	SNV Germline	Chr2:178714335	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Condition: not provided	Criteria Provided Conflicting Classifications	CA139171	rs_200088963	15 SubmittersRCV000040048 RCV000226412 RCV000769047 RCV001134540 RCV001134537 RCV001134539 RCV001134536 RCV001134538 RCV001529112
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=)	SNV Germline	Chr2:178714308	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA282994	rs_140003804	16 SubmittersRCV000040050 RCV000229613 RCV000272376 RCV000321184 RCV000324738 RCV000364621 RCV000378220 RCV000769046 RCV001084999
NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met)	SNV Germline	Chr2:178714306	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided	Criteria Provided Conflicting Classifications	CA139175	rs_368151971	5 SubmittersRCV000040051 RCV000249193 RCV000643107 RCV001697103
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)	SNV Germline	Chr2:178714130	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Hypertrophic cardiomyopathy TTN-related disorder 6 conditions	Criteria Provided Conflicting Classifications	CA139179	rs_72648990	13 SubmittersRCV000040052 RCV000226309 RCV000725012 RCV001293146 RCV004528205 RCV005394229
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)	SNV Germline	Chr2:178713986	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139188	rs_146057575	16 SubmittersRCV000040055 RCV000289133 RCV000284411 RCV000327811 RCV000333598 RCV000381135 RCV000488131 RCV001084221
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)	SNV Germline	Chr2:178713199	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139198	rs_376982715	14 SubmittersRCV000040061 RCV000227647 RCV000725243 RCV001170860
NM_001267550.2(TTN):c.27328+5G>A	SNV Germline	Chr2:178712692	Conflicting classifications of pathogenicity	not specified Primary dilated cardiomyopathy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure TTN-related disorder	Criteria Provided Conflicting Classifications	CA139202	rs_397517521	7 SubmittersRCV000040063 RCV000209435 RCV000726292 RCV001087453 RCV001131175 RCV001131176 RCV001131177 RCV001131179 RCV001131178 RCV004534879
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=)	SNV Germline	Chr2:178712424	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139209	rs_372528823	12 SubmittersRCV000040065 RCV000300773 RCV000336995 RCV000335503 RCV000394095 RCV000405514 RCV000724437 RCV001081198 RCV001170859 RCV004534880
NM_001267550.2(TTN):c.27593A>G (p.Gln9198Arg)	SNV Germline	Chr2:178712329	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy 6 conditions	Criteria Provided Conflicting Classifications	CA139213	rs_368297438	5 SubmittersRCV000040066 RCV000550845 RCV000726525 RCV001798140 RCV005025093
NM_001267550.2(TTN):c.27793A>C (p.Asn9265His)	SNV Germline	Chr2:178712037	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA139227	rs_397517524	4 SubmittersRCV000040069 RCV001131058 RCV001131059 RCV001131060 RCV001131062 RCV001131061 RCV003128574 RCV004534881
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln)	SNV Germline	Chr2:178711322	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139240	rs_397517527	6 SubmittersRCV000040073 RCV000730993 RCV000852884 RCV001087344
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile)	SNV Germline	Chr2:178711166	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA283026	rs_144930507	11 SubmittersRCV000040076 RCV000231488 RCV000291931 RCV000344859 RCV000346806 RCV000390703 RCV000404062 RCV001081637
NM_001267550.2(TTN):c.28463-14G>A	SNV Germline	Chr2:178709870	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139256	rs_200917885	4 SubmittersRCV000040080 RCV000281900 RCV000335874 RCV000336885 RCV000371892 RCV000379633 RCV001610337 RCV002054778
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)	SNV Germline	Chr2:178706644	Conflicting classifications of pathogenicity	not specified Sudden cardiac death Cardiac arrest Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139279	rs_375266859	11 SubmittersRCV000040090 RCV000415299 RCV000530713 RCV000730819 RCV000769897 RCV001134854 RCV001134856 RCV001134853 RCV001134855 RCV001134857
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser)	SNV Germline	Chr2:178784240	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided	Criteria Provided Conflicting Classifications	CA139287	rs_370962244	7 SubmittersRCV000040094 RCV000643692 RCV000725042
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr)	SNV Germline	Chr2:178704534	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139294	rs_189286381	7 SubmittersRCV000040097 RCV000172684 RCV001078743
NM_001267550.2(TTN):c.29963-13A>G	SNV Germline	Chr2:178704420	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA283066	rs_72650008	11 SubmittersRCV000040098 RCV000282220 RCV000335038 RCV000352559 RCV000374337 RCV000403313 RCV001529310 RCV002054780
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln)	SNV Germline	Chr2:178704189	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA139299	rs_184153985	8 SubmittersRCV000040099 RCV000468986 RCV000768894 RCV001703899 RCV004541142
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=)	SNV Germline	Chr2:178702656	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA283067	rs_74324101	11 SubmittersRCV000040101 RCV000229424 RCV001133186 RCV001133187 RCV001133188 RCV001133189 RCV001134653 RCV001531334 RCV003486579
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)	SNV Germline	Chr2:178702613	Conflicting classifications of pathogenicity	not specified Primary dilated cardiomyopathy Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Conflicting Classifications	CA139304	rs_72650011	23 SubmittersRCV000040102 RCV000143966 RCV000172683 RCV000768893 RCV000986941 RCV001081687 RCV004534882
NM_001267550.2(TTN):c.30433+11T>G	SNV Germline	Chr2:178702443	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA283082	rs_199848546	5 SubmittersRCV000040105 RCV001129516 RCV001129518 RCV001129515 RCV001129517 RCV001136529 RCV002054781
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)	SNV Germline	Chr2:178702194	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139313	rs_200593368	14 SubmittersRCV000040107 RCV000253899 RCV000260855 RCV000262132 RCV000300682 RCV000353220 RCV000385979 RCV000475078 RCV000725352 RCV001170630
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)	SNV Germline	Chr2:178784159	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided Cardiomyopathy Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure TTN-related disorder	Criteria Provided Conflicting Classifications	CA139318	rs_376768790	12 SubmittersRCV000040109 RCV000471292 RCV000620387 RCV000725605 RCV000770154 RCV001135012 RCV001135014 RCV001135013 RCV001135010 RCV001135011 RCV004534885
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)	SNV Germline	Chr2:178698879	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Hypertrophic cardiomyopathy Cardiomyopathy Long QT syndrome Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139329	rs_111671438	20 SubmittersRCV000040111 RCV000172682 RCV000578036 RCV000577956 RCV000578117 RCV000852879 RCV001084360 RCV001129423 RCV001129424 RCV004541143
NM_001267550.2(TTN):c.30803-15C>T	SNV Germline	Chr2:178696284	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139338	rs_397517535	2 SubmittersRCV000040113 RCV006555373
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)	SNV Germline	Chr2:178784114	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA139343	rs_141961878	9 SubmittersRCV000040116 RCV000456367 RCV000725691 RCV002433509
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile)	SNV Germline	Chr2:178694626	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139353	rs_72650019	20 SubmittersRCV000040118 RCV000172681 RCV001079188 RCV001129209 RCV001129210 RCV001129207 RCV001129206 RCV001129208 RCV001170628
NM_001267550.2(TTN):c.31426+1G>C	SNV Germline	Chr2:178694598	Conflicting classifications of pathogenicity	not specified Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive titinopathy	Criteria Provided Conflicting Classifications	CA139358	rs_6749719	4 SubmittersRCV000040119 RCV000209261 RCV000560902 RCV005237460
NM_001267550.2(TTN):c.2776-14T>C	SNV Germline	Chr2:178783799	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Conflicting Classifications	CA139359	rs_201611946	6 SubmittersRCV000040120 RCV001132586 RCV001132587 RCV001133513 RCV001133514 RCV001133515 RCV002054782 RCV004534886
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)	SNV Germline	Chr2:178692021	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139360	rs_200459347	14 SubmittersRCV000040123 RCV000725032 RCV001085078 RCV001131660 RCV001131661 RCV001131663 RCV001131662 RCV001131664 RCV001170626 RCV004534887
NM_001267550.2(TTN):c.31763-1G>A	SNV Germline	Chr2:178689897	Conflicting classifications of pathogenicity	not specified Primary dilated cardiomyopathy Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Tip-toe gait Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139366	rs_202234172	13 SubmittersRCV000040125 RCV000209343 RCV000726093 RCV001080016 RCV001798142 RCV001849293 RCV003333729
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=)	SNV Germline	Chr2:178689853	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA139371	rs_370080995	15 SubmittersRCV000040127 RCV000231153 RCV000293056 RCV000308421 RCV000344333 RCV000347979 RCV000387481 RCV001170625 RCV001528269 RCV004541144
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)	SNV Germline	Chr2:178689822	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA139375	rs_200213832	12 SubmittersRCV000040128 RCV000233950 RCV000725168 RCV001134533 RCV001134534 RCV001134535 RCV001135959 RCV001135960 RCV004528207
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)	SNV Germline	Chr2:178688688	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder Hypertrophic cardiomyopathy 9 Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Condition: not provided	Criteria Provided Conflicting Classifications	CA139379	rs_115119858	10 SubmittersRCV000040130 RCV000241648 RCV000474330 RCV001798143 RCV004534888 RCV004799179 RCV006449960
NM_001267550.2(TTN):c.32197+11G>A	SNV Germline	Chr2:178688666	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA283106	rs_369265969	7 SubmittersRCV000040131 RCV001131414 RCV001131415 RCV001131416 RCV001134391 RCV001134392 RCV002054783
NM_001267550.2(TTN):c.32198-10T>C	SNV Germline	Chr2:178688234	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139384	rs_371121439	5 SubmittersRCV000040132 RCV000868229 RCV001719765 RCV003486580
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val)	SNV Germline	Chr2:178684980	Conflicting classifications of pathogenicity	not specified Condition: not provided Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139390	rs_72650030	18 SubmittersRCV000040138 RCV000082390 RCV001131295 RCV001086201 RCV001134271 RCV001134272 RCV001134273 RCV001134274 RCV003486581 RCV004534889
NM_001267550.2(TTN):c.32555-12G>T	SNV Germline	Chr2:178684761	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139395	rs_397517540	4 SubmittersRCV000040139 RCV001131290 RCV001131291 RCV001131292 RCV001131293 RCV001131294 RCV001535406 RCV002054785
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)	SNV Germline	Chr2:178684747	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139397	rs_201738153	13 SubmittersRCV000040141 RCV000254304 RCV000725191 RCV001082304 RCV001130562 RCV001130563 RCV001130561 RCV001131289 RCV001131288 RCV001798144 RCV004534890
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)	SNV Germline	Chr2:178684680	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Supraventricular tachycardia Brugada syndrome Ventricular tachycardia Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA139407	rs_72650031	22 SubmittersRCV000040143 RCV000118748 RCV000245813 RCV000770067 RCV000852875 RCV001081904 RCV001134135 RCV001134137 RCV001134134 RCV001134136 RCV001134138 RCV005621859
NM_001267550.2(TTN):c.32703G>A (p.Glu10901=)	SNV Germline	Chr2:178684349	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA139412	rs_397517542	7 SubmittersRCV000040145 RCV000560344 RCV001131172 RCV001131173 RCV001131174 RCV001130451 RCV001131171 RCV001725953 RCV004541145
NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu)	SNV Germline	Chr2:178684055	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy TTN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA283129	rs_73973137	13 SubmittersRCV000040148 RCV000225853 RCV000245854 RCV000770065 RCV001130445 RCV001130444 RCV001135520 RCV001135521 RCV001135522 RCV004534893 RCV004546420
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)	SNV Germline	Chr2:178682738	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA139426	rs_72650034	16 SubmittersRCV000040152 RCV000154080 RCV000241592 RCV000770062 RCV001085855 RCV001133885 RCV001133887 RCV001133886 RCV001133888 RCV001133889 RCV004541146
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys)	SNV Germline	Chr2:178682732	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy	Criteria Provided Conflicting Classifications	CA139431	rs_72650035	13 SubmittersRCV000040153 RCV000244280 RCV000540453 RCV000725326 RCV000770061 RCV000852874 RCV001130927 RCV001130929 RCV001130925 RCV001130926 RCV001130928
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)	SNV Germline	Chr2:178682728	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy	Criteria Provided Conflicting Classifications	CA283135	rs_115744476	20 SubmittersRCV000040154 RCV000250652 RCV000845348 RCV000770060 RCV001083883 RCV001130222 RCV001130223 RCV001130922 RCV001130923 RCV001130924
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr)	SNV Germline	Chr2:178680256	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA139436	rs_72650040	15 SubmittersRCV000040158 RCV000172680 RCV000770057 RCV001082271 RCV001130091 RCV001130090 RCV001130092 RCV001135119 RCV001135120 RCV005621860
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)	SNV Germline	Chr2:178679349	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA283153	rs_190604150	15 SubmittersRCV000040160 RCV000253048 RCV000727781 RCV001081741 RCV001130650 RCV001130646 RCV001130647 RCV001130648 RCV001130649 RCV003486582 RCV004541147
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg)	SNV Germline	Chr2:178782904	Conflicting classifications of pathogenicity	Cardiovascular phenotype not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA139441	rs_148269839	7 SubmittersRCV002433511 RCV000040162 RCV000475442 RCV000725354
NM_001267550.2(TTN):c.33827-8C>T	SNV Germline	Chr2:178678505	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139448	rs_371318311	8 SubmittersRCV000040163 RCV000725591 RCV001088808 RCV001798145 RCV004541148
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys)	SNV Germline	Chr2:178678468	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139449	rs_376874956	10 SubmittersRCV000040165 RCV000261380 RCV000264717 RCV000300081 RCV000315424 RCV000353902 RCV000643124 RCV000714019 RCV001170394
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter)	SNV Germline	Chr2:178782872	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA261847	rs_397517547	5 SubmittersRCV000040169 RCV000754723 RCV001314678 RCV002433512 RCV005434619
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)	SNV Germline	Chr2:178675085	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139474	rs_140640738	19 SubmittersRCV000040174 RCV000082392 RCV000309400 RCV000315049 RCV000350143 RCV000369677 RCV000399534 RCV000852870 RCV001082919 RCV001798146
NM_001267550.2(TTN):c.34708+9G>T	SNV Germline	Chr2:178674305	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139479	rs_397517551	6 SubmittersRCV000040175 RCV000730362 RCV001399669
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)	SNV Germline	Chr2:178672473	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA139486	rs_202014478	20 SubmittersRCV000040179 RCV000172679 RCV000247302 RCV000769039 RCV001081699 RCV001133178 RCV001133179 RCV001132263 RCV001132265 RCV001132264 RCV004534895
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)	SNV Germline	Chr2:178782806	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary dilated cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tip-toe gait Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139491	rs_142951505	17 SubmittersRCV000040180 RCV000154101 RCV000209217 RCV000271482 RCV000246075 RCV000366063 RCV000369218 RCV000986946 RCV001083564 RCV002227929 RCV003149645 RCV004541149
NM_001267550.2(TTN):c.35037G>A (p.Pro11679=)	SNV Germline	Chr2:178672161	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139498	rs_369095270	7 SubmittersRCV000040182 RCV000725450 RCV000769037 RCV001087182
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met)	SNV Germline	Chr2:178782570	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA139502	rs_72647868	11 SubmittersRCV000040183 RCV000456345 RCV000714011 RCV002433513 RCV005394230
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr)	SNV Germline	Chr2:178671134	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Primary dilated cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA139508	rs_189966800	16 SubmittersRCV000040184 RCV000246293 RCV000274824 RCV000329904 RCV000364890 RCV000370805 RCV000389983 RCV000464829 RCV000769035 RCV001293076 RCV001719766
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser)	SNV Germline	Chr2:178659026	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139513	rs_200992277	12 SubmittersRCV000040185 RCV000082395 RCV000852867 RCV001083903 RCV001136516 RCV001133068 RCV001133069 RCV001133070 RCV001133071
NM_001267550.2(TTN):c.39128-14T>C	SNV Germline	Chr2:178652361	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA283182	rs_200916144	7 SubmittersRCV000040190 RCV000295213 RCV000294097 RCV000329232 RCV000383775 RCV000390094 RCV001727542 RCV002054789
NM_001267550.2(TTN):c.39211+6C>T	SNV Germline	Chr2:178652258	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Cardiomyopathy	Criteria Provided Conflicting Classifications	CA210973	rs_187365142	16 SubmittersRCV000040193 RCV000723852 RCV000852865 RCV001085041 RCV001132960 RCV001132021 RCV001132018 RCV001132019 RCV001132020 RCV001798147
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys)	SNV Germline	Chr2:178651962	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139530	rs_201035457	11 SubmittersRCV000040194 RCV000228887 RCV000725460 RCV001798148
NM_001267550.2(TTN):c.39616C>T (p.Pro13206Ser)	SNV Germline	Chr2:178651252	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139547	rs_186404793	8 SubmittersRCV000040198 RCV000285797 RCV000310247 RCV000346455 RCV000400718 RCV000400546 RCV000468407 RCV001719767 RCV003486584
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)	SNV Germline	Chr2:178782351	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139551	rs_55914517	20 SubmittersRCV000040201 RCV000172732 RCV000253970 RCV001085560 RCV001129772 RCV001132484 RCV001132481 RCV001132483 RCV001132482 RCV001170662 RCV004534896
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)	SNV Germline	Chr2:178642297	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139563	rs_201944202	20 SubmittersRCV000040205 RCV000082399 RCV000279186 RCV000294379 RCV000336318 RCV000337656 RCV000385921 RCV000620121 RCV001086509 RCV001798149 RCV004541151
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=)	SNV Germline	Chr2:178641287	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Cardiomyopathy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA139568	rs_370597107	13 SubmittersRCV000040206 RCV000477228 RCV000619166 RCV000770042 RCV001131657 RCV001131658 RCV001131659 RCV001131656 RCV001131655 RCV001719769
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)	SNV Germline	Chr2:178782297	Conflicting classifications of pathogenicity	Condition: not provided not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA139572	rs_368282893	10 SubmittersRCV000171326 RCV000040208 RCV000643604 RCV001134754 RCV001134751 RCV001134752 RCV001134753 RCV001134755 RCV001293182
NM_001267550.2(TTN):c.40877-14T>C	SNV Germline	Chr2:178637433	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139578	rs_397517561	2 SubmittersRCV000040209 RCV002054792
NM_001267550.2(TTN):c.3318C>T (p.Gly1106=)	SNV Germline	Chr2:178782274	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA139579	rs_141768043	5 SubmittersRCV000040210 RCV000461316 RCV001133303 RCV001133304 RCV001133305 RCV001133306 RCV001133302 RCV001636630 RCV002321518
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=)	SNV Germline	Chr2:178636624	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA283198	rs_72650077	20 SubmittersRCV000040213 RCV000251423 RCV000266898 RCV000312419 RCV000263483 RCV000354706 RCV000355579 RCV000465879 RCV000770040 RCV001081405
NM_001267550.2(TTN):c.33G>A (p.Pro11=)	SNV Germline	Chr2:178804610	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype Condition: not provided Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Conflicting Classifications	CA139601	rs_138331646	15 SubmittersRCV000040218 RCV000283360 RCV000292016 RCV000342991 RCV000346931 RCV000396961 RCV000621623 RCV000725148 RCV000769152 RCV001086556 RCV004541152
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg)	SNV Germline	Chr2:178781235	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Hypertrophic cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139607	rs_72647870	15 SubmittersRCV000040219 RCV000172731 RCV000250640 RCV000852941 RCV001084204 RCV001129652 RCV001129653 RCV001129654 RCV001129655 RCV001132367 RCV001798150
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=)	SNV Germline	Chr2:178635258	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA139614	rs_369128249	11 SubmittersRCV000040220 RCV000622242 RCV000770039 RCV000868263 RCV001128759 RCV001128760 RCV001128761 RCV001128762 RCV001128763 RCV001528673
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)	SNV Germline	Chr2:178634452	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tip-toe gait	Criteria Provided Conflicting Classifications	CA139618	rs_34706299	14 SubmittersRCV000040225 RCV000172337 RCV000294831 RCV000328437 RCV000343733 RCV000383259 RCV000399696 RCV000618332 RCV001079995 RCV002225277
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr)	SNV Germline	Chr2:178633990	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA139622	rs_369623392	7 SubmittersRCV000040226 RCV000254284 RCV000458956 RCV000726937
NM_001267550.2(TTN):c.3523G>A (p.Ala1175Thr)	SNV Germline	Chr2:178781121	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139643	rs_397517570	3 SubmittersRCV000040232 RCV000726416 RCV001089291
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr)	SNV Germline	Chr2:178633254	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hypertrophic cardiomyopathy 9 not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139649	rs_397517571	6 SubmittersRCV001588857 RCV002399386 RCV005051741 RCV000040234 RCV000230470
NM_001267550.2(TTN):c.43417G>C (p.Asp14473His)	SNV Germline	Chr2:178632589	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139661	rs_397517573	6 SubmittersRCV000040237 RCV000617879 RCV000726234 RCV001087264 RCV001171014
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)	SNV Germline	Chr2:178632317	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA139665	rs_373491468	12 SubmittersRCV000040239 RCV000473565 RCV000724718 RCV001133884 RCV001135396 RCV001135397 RCV001135394 RCV001135395 RCV002399388
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)	SNV Germline	Chr2:178632204	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Arrhythmogenic right ventricular cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA139670	rs_181189778	14 SubmittersRCV000040242 RCV000463518 RCV000725048 RCV000852859 RCV001130918 RCV001130920 RCV001130919 RCV001130921 RCV001130917 RCV001171013 RCV002399389
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter)	SNV Germline	Chr2:178621517	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA261855	rs_397517580	6 SubmittersRCV000040256 RCV000642772 RCV000786251 RCV002408529
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn)	SNV Germline	Chr2:178621496	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA139699	rs_17354992	20 SubmittersRCV000040257 RCV000243472 RCV000306752 RCV000271569 RCV000312455 RCV000363806 RCV000350900 RCV000407483 RCV000755420 RCV000770032 RCV001528376
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)	SNV Germline	Chr2:178621310	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA289089	rs_72677225	24 SubmittersRCV000040258 RCV000118755 RCV000242768 RCV000770031 RCV001084207 RCV001133292 RCV001133294 RCV001133295 RCV001133296 RCV001133293 RCV004534897
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)	SNV Germline	Chr2:178621219	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139704	rs_183245562	12 SubmittersRCV000040259 RCV000725531 RCV001084767 RCV002408530 RCV003149646 RCV004534898
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)	SNV Germline	Chr2:178621119	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder Thyroid cancer, nonmedullary, 1 Cervical cancer	Criteria Provided Conflicting Classifications	CA248648	rs_201057307	17 SubmittersRCV000040261 RCV000118756 RCV000282960 RCV000378515 RCV000385022 RCV000621910 RCV000767850 RCV000986939 RCV001085279 RCV003149647 RCV004541155 RCV005890165 RCV005890164
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)	SNV Germline	Chr2:178620456	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Conflicting Classifications	CA139717	rs_397517583	7 SubmittersRCV000040265 RCV000727270 RCV000770026 RCV001079806 RCV004541156
NM_001267550.2(TTN):c.46386C>T (p.Cys15462=)	SNV Germline	Chr2:178620031	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA283286	rs_147703145	6 SubmittersRCV000040269 RCV000557245 RCV001133065 RCV001133061 RCV001133062 RCV001133063 RCV001133064 RCV002408533 RCV003326338
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg)	SNV Germline	Chr2:178620030	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA139729	rs_200042932	11 SubmittersRCV000040270 RCV000643829 RCV000726230 RCV001132132 RCV001132133 RCV001132134 RCV001132131 RCV001133060 RCV002408534 RCV004534899
NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter)	SNV Germline	Chr2:178618768	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Multiple Submitters No Conflicts	CA261864	rs_397517587	4 SubmittersRCV000209642 RCV006555374
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser)	SNV Germline	Chr2:178618727	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139739	rs_397517588	5 SubmittersRCV000040275 RCV000724839 RCV001078812
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val)	SNV Germline	Chr2:178618670	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA139743	rs_115813214	11 SubmittersRCV000040276 RCV000272075 RCV000287419 RCV000322491 RCV000342339 RCV000377170 RCV000470629 RCV000617450 RCV001719770 RCV004534900
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)	SNV Germline	Chr2:178618267	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder Limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA139747	rs_72677231	22 SubmittersRCV000040277 RCV000206445 RCV000253777 RCV000283374 RCV000291644 RCV000343176 RCV000346585 RCV000382285 RCV000769010 RCV001081905 RCV004541157 RCV005621861
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)	SNV Germline	Chr2:178618036	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Atrial fibrillation Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139757	rs_72677233	21 SubmittersRCV000040280 RCV000225870 RCV000254435 RCV000308756 RCV000343876 RCV000352447 RCV000392384 RCV000404240 RCV000852855 RCV001083111 RCV001798152
NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter)	SNV Germline	Chr2:178617845	Likely pathogenic	Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Multiple Submitters No Conflicts	CA261868	rs_397517589	2 SubmittersRCV000040282 RCV001852832
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)	SNV Germline	Chr2:178617806	Conflicting classifications of pathogenicity	not specified Condition: not provided Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Cardiovascular phenotype Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139762	rs_146181477	20 SubmittersRCV000040283 RCV000082410 RCV000314422 RCV000299345 RCV000349511 RCV000369133 RCV000406274 RCV000619989 RCV000852853 RCV001083906 RCV001798153
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe)	SNV Germline	Chr2:178617348	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA283315	rs_138576504	13 SubmittersRCV000040286 RCV000227469 RCV000285222 RCV000302752 RCV000337139 RCV000342472 RCV000391758 RCV000621575 RCV000769005 RCV001085025
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp)	SNV Germline	Chr2:178779048	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA283320	rs_36021856	20 SubmittersRCV000040288 RCV000225777 RCV000250117 RCV000266423 RCV000288662 RCV000323811 RCV000380733 RCV000385248 RCV000769135 RCV001530088
NM_001267550.2(TTN):c.48638+5G>T	SNV Germline	Chr2:178615302	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139791	rs_397517594	4 SubmittersRCV000040293 RCV000578677 RCV002426574 RCV002513563
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)	SNV Germline	Chr2:178614880	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Long QT syndrome Tip-toe gait TTN-related disorder	Criteria Provided Conflicting Classifications	CA139792	rs_72677242	16 SubmittersRCV000040294 RCV000172666 RCV000244085 RCV000337051 RCV000278356 RCV000284453 RCV000335718 RCV000406708 RCV000768998 RCV001081356 RCV000852850 RCV001358658 RCV004528209
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)	SNV Germline	Chr2:178614561	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Tibial muscular dystrophy Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure	Criteria Provided Conflicting Classifications	CA139797	rs_72677243	16 SubmittersRCV000040295 RCV000172665 RCV000247886 RCV000655929 RCV000768997 RCV001083138 RCV001130555 RCV001131281 RCV001131282 RCV001131280
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)	SNV Germline	Chr2:178613870	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J 6 conditions Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139810	rs_202094100	15 SubmittersRCV000040300 RCV000184581 RCV000248683 RCV000275689 RCV000317820 RCV000330719 RCV000357355 RCV000372520 RCV000560033 RCV000764335 RCV001170837 RCV004534902
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr)	SNV Germline	Chr2:178778883	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Cardiomyopathy Condition: not provided Limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA139816	rs_138506461	14 SubmittersRCV000040304 RCV000232832 RCV000618058 RCV001132983 RCV001132985 RCV001132984 RCV001136418 RCV001136419 RCV001170659 RCV001537833 RCV005625238
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)	SNV Germline	Chr2:178612802	Conflicting classifications of pathogenicity	not specified Condition: not provided Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139823	rs_55663050	21 SubmittersRCV000040306 RCV000082412 RCV000282058 RCV000318292 RCV000278424 RCV000376541 RCV000321923 RCV000618761 RCV000770020 RCV000852849 RCV001084198
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr)	SNV Germline	Chr2:178611946	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Condition: not provided Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA139836	rs_397517599	12 SubmittersRCV000040312 RCV000284717 RCV000288386 RCV000324575 RCV000339767 RCV000404730 RCV000539364 RCV000770017 RCV001703901 RCV002426575 RCV004541159
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=)	SNV Germline	Chr2:178611924	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139841	rs_374672630	6 SubmittersRCV000040313 RCV000254431 RCV000727126 RCV001079702 RCV001798155
NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys)	SNV Germline	Chr2:178611857	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139845	rs_397517600	6 SubmittersRCV000040315 RCV000618209 RCV000726235 RCV001086999 RCV001170833
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter)	SNV Germline	Chr2:178611611	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA261872	rs_397517601	5 SubmittersRCV000040317 RCV001852833 RCV003149648 RCV005403743 RCV005630712
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser)	SNV Germline	Chr2:178777825	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Atrial fibrillation Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139860	rs_376857956	11 SubmittersRCV000040321 RCV000242790 RCV000544938 RCV000852938 RCV001082368 RCV001798156 RCV004534904
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)	SNV Germline	Chr2:178609501	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA139879	rs_200650668	17 SubmittersRCV000040327 RCV000227290 RCV000250975 RCV000279940 RCV000294783 RCV000334677 RCV000374388 RCV000389173 RCV000725456 RCV001170610
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=)	SNV Germline	Chr2:178608901	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA283403	rs_139789997	15 SubmittersRCV000040329 RCV000618342 RCV000714048 RCV001086625 RCV001134737 RCV001133291 RCV001134736 RCV001134738 RCV001133290 RCV001798157
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly)	SNV Germline	Chr2:178608867	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA139888	rs_397517607	7 SubmittersRCV000040330 RCV000727140 RCV001084774 RCV001798158 RCV002426576
NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn)	SNV Germline	Chr2:178608768	Conflicting classifications of pathogenicity	Condition: not provided not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139896	rs_397517609	4 SubmittersRCV001588858 RCV000040332 RCV000642909
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)	SNV Germline	Chr2:178607935	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary dilated cardiomyopathy Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA139904	rs_201213901	23 SubmittersRCV000040336 RCV000118765 RCV000852845 RCV001084228 RCV001129510 RCV001129511 RCV001129509 RCV001129508 RCV001136507 RCV001798159 RCV002426577 RCV004534905
NM_001267550.2(TTN):c.53002+10G>A	SNV Germline	Chr2:178607775	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided	Criteria Provided Conflicting Classifications	CA283418	rs_370352450	7 SubmittersRCV000040339 RCV000468834 RCV001336911 RCV006445479
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)	SNV Germline	Chr2:178607592	Conflicting classifications of pathogenicity	not specified Condition: not provided Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype Cardiomyopathy Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tip-toe gait TTN-related disorder	Criteria Provided Conflicting Classifications	CA139912	rs_72646808	17 SubmittersRCV000040340 RCV000172663 RCV000291245 RCV000315170 RCV000335069 RCV000350259 RCV000404069 RCV000618788 RCV000770012 RCV000852844 RCV001086451 RCV002221192 RCV004534906
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)	SNV Germline	Chr2:178607428	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Condition: not provided Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA139925	rs_397517612	12 SubmittersRCV000040345 RCV000276975 RCV000278213 RCV000332004 RCV000366890 RCV000372745 RCV000560612 RCV000770011 RCV001719771 RCV002426579 RCV004534907
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys)	SNV Germline	Chr2:178605029	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Hypertrophic cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA139954	rs_55734111	16 SubmittersRCV000040353 RCV000231268 RCV000245658 RCV000770009 RCV001131774 RCV001131772 RCV001132763 RCV001131771 RCV001131773 RCV001293198 RCV001705688
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=)	SNV Germline	Chr2:178604988	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Condition: not provided Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA283436	rs_2303834	18 SubmittersRCV000040356 RCV000465245 RCV000770008 RCV001129093 RCV001129094 RCV001136066 RCV001311249 RCV001136065 RCV001136067 RCV002453325 RCV004534908
NM_001267550.2(TTN):c.54381+6C>G	SNV Germline	Chr2:178604702	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure TTN-related disorder	Criteria Provided Conflicting Classifications	CA139979	rs_368265962	5 SubmittersRCV000040360 RCV000724174 RCV001128983 RCV001128981 RCV001131641 RCV001128980 RCV001128982 RCV004734565
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His)	SNV Germline	Chr2:178604197	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA139980	rs_370135374	10 SubmittersRCV000040361 RCV000228122 RCV000725242 RCV001170604 RCV002426581
NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter)	SNV Germline	Chr2:178604051	Likely pathogenic	Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Multiple Submitters No Conflicts	CA261876	rs_397517620	2 SubmittersRCV000040362 RCV003764696
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met)	SNV Germline	Chr2:178604002	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Condition: not provided Cardiovascular phenotype not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA139984	rs_116142642	9 SubmittersRCV001131522 RCV001131523 RCV001131524 RCV001131525 RCV001131526 RCV001699025 RCV002433514 RCV000040363 RCV000461813
NM_001267550.2(TTN):c.54811+15G>A	SNV Germline	Chr2:178603861	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA139998	rs_201450276	5 SubmittersRCV000040366 RCV001134383 RCV001135848 RCV001135846 RCV001135847 RCV001135849 RCV002054794
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)	SNV Germline	Chr2:178602584	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA139999	rs_201035511	14 SubmittersRCV000040367 RCV000172661 RCV000260976 RCV000316224 RCV000341213 RCV000375984 RCV000388261 RCV001086441 RCV001798161 RCV002433515 RCV004528210
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)	SNV Germline	Chr2:178602132	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided 6 conditions Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure	Criteria Provided Conflicting Classifications	CA140004	rs_72646819	9 SubmittersRCV000040371 RCV000555854 RCV000726968 RCV000764327 RCV005357278
NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn)	SNV Germline	Chr2:178602002	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided	Criteria Provided Conflicting Classifications	CA140013	rs_367799017	3 SubmittersRCV000040373 RCV000797680 RCV003156220
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr)	SNV Germline	Chr2:178601450	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure TTN-related disorder	Criteria Provided Conflicting Classifications	CA283460	rs_146608896	12 SubmittersRCV000040375 RCV000228188 RCV000620720 RCV001085000 RCV001131279 RCV001134253 RCV001134251 RCV001134252 RCV001134254 RCV004732586
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg)	SNV Germline	Chr2:178601444	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140022	rs_72646823	16 SubmittersRCV000040376 RCV000172659 RCV000245388 RCV000324440 RCV000270469 RCV000290334 RCV000360425 RCV000384696 RCV001080060 RCV001170600 RCV004534910
NM_001267550.2(TTN):c.55692T>A (p.Pro18564=)	SNV Germline	Chr2:178601305	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA140027	rs_200864020	4 SubmittersRCV000040377 RCV000724558 RCV006555375
NM_001267550.2(TTN):c.56647+1G>A	SNV Germline	Chr2:178599145	Likely pathogenic	Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Multiple Submitters No Conflicts	CA261880	rs_397517624	2 SubmittersRCV000040383 RCV001230770
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val)	SNV Germline	Chr2:178598768	Conflicting classifications of pathogenicity	Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Condition: not provided Cardiovascular phenotype 6 conditions TTN-related disorder not specified Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140053	rs_397517627	11 SubmittersRCV001130207 RCV001130203 RCV001130204 RCV001130205 RCV001130206 RCV001703902 RCV002433518 RCV005394231 RCV004734567 RCV000040387 RCV000768980
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)	SNV Germline	Chr2:178597958	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140058	rs_200001206	16 SubmittersRCV000040388 RCV000154063 RCV000456245 RCV002433519 RCV003149649
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter)	SNV Germline	Chr2:178597751	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA261883	rs_72646831	7 SubmittersRCV000157562 RCV000184240 RCV000223733 RCV001213420 RCV002433520
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)	SNV Germline	Chr2:178595768	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Ventricular tachycardia Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140071	rs_397517630	14 SubmittersRCV000040396 RCV000118768 RCV000253459 RCV000467434 RCV000852835 RCV001135097 RCV001135099 RCV001135095 RCV001135096 RCV001135098 RCV001798164
NM_001267550.2(TTN):c.57847+1G>A	SNV Germline	Chr2:178595506	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA261888	rs_397517631	4 SubmittersRCV000040399 RCV001798166 RCV002444494 RCV006555378
NM_001267550.2(TTN):c.58122C>G (p.Thr19374=)	SNV Germline	Chr2:178594372	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140089	rs_189818369	7 SubmittersRCV000040403 RCV000544873 RCV001129936 RCV001129932 RCV001129934 RCV001129933 RCV001129935 RCV001711155 RCV002321519
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile)	SNV Germline	Chr2:178593967	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140094	rs_397517636	7 SubmittersRCV000040405 RCV000184655 RCV000302892 RCV000335169 RCV000338819 RCV000396639 RCV000401844 RCV001087765 RCV002321520
NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln)	SNV Germline	Chr2:178593664	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy Cardiomyopathy Ventricular fibrillation Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA283500	rs_201840554	14 SubmittersRCV000040407 RCV000463384 RCV000620821 RCV000770002 RCV000852834 RCV001129739 RCV001129741 RCV001129740 RCV001129742 RCV001134735 RCV006449962
NM_001267550.2(TTN):c.58982G>A (p.Gly19661Asp)	SNV Germline	Chr2:178593226	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA140115	rs_397517640	5 SubmittersRCV000040413 RCV000642907 RCV002225278 RCV004541162
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)	SNV Germline	Chr2:178593006	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Arrhythmogenic right ventricular dysplasia 9 Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140129	rs_72646839	12 SubmittersRCV000040416 RCV000469250 RCV000491963 RCV000725816 RCV000852513 RCV002321523
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)	SNV Germline	Chr2:178592801	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140139	rs_371719028	10 SubmittersRCV000040419 RCV000172655 RCV001085920 RCV002321525 RCV004541163
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)	SNV Germline	Chr2:178592800	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA283510	rs_367622770	14 SubmittersRCV000040420 RCV000254300 RCV000284184 RCV000308595 RCV000339177 RCV000363322 RCV000399397 RCV000465101 RCV001723623 RCV001798168
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)	SNV Germline	Chr2:178592797	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140144	rs_188063446	17 SubmittersRCV000040421 RCV000278971 RCV000318896 RCV000342659 RCV000373508 RCV000386004 RCV000469487 RCV001530016 RCV002321526 RCV004534912
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=)	SNV Germline	Chr2:178592069	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140157	rs_72646842	11 SubmittersRCV000040425 RCV000266817 RCV000302100 RCV000305690 RCV000353482 RCV000359114 RCV000714060 RCV001086691 RCV002321527 RCV004541164
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)	SNV Germline	Chr2:178591814	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140165	rs_199512049	13 SubmittersRCV000040427 RCV000172654 RCV000472663 RCV000768977 RCV001132010 RCV001132952 RCV002321528 RCV004734571
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)	SNV Germline	Chr2:178591004	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Tip-toe gait Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140179	rs_200212521	21 SubmittersRCV000040433 RCV000172653 RCV000280109 RCV000286181 RCV000337757 RCV000343483 RCV000396846 RCV001086697 RCV001171297 RCV002222151 RCV002321530 RCV004534913
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly)	SNV Germline	Chr2:178776550	Conflicting classifications of pathogenicity	Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Dilated cardiomyopathy 1G Hypertrophic cardiomyopathy 9 not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA140193	rs_150725992	7 SubmittersRCV001128998 RCV001128997 RCV001135973 RCV001135975 RCV001135974 RCV001719774 RCV003335072 RCV000040436 RCV000545067
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln)	SNV Germline	Chr2:178590625	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140204	rs_141973925	22 SubmittersRCV000040438 RCV000233759 RCV000242716 RCV000768968 RCV001082822 RCV001136053 RCV001136054 RCV001136055 RCV001136056 RCV001136057 RCV004534914
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)	SNV Germline	Chr2:178590403	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Conflicting Classifications	CA140219	rs_147580753	12 SubmittersRCV000040442 RCV000118772 RCV000617338 RCV001086533 RCV004534915
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)	SNV Germline	Chr2:178590316	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA140224	rs_202012910	14 SubmittersRCV000040443 RCV000118773 RCV000621098 RCV000643646
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)	SNV Germline	Chr2:178589849	Pathogenic/Likely pathogenic	Condition: not provided Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Dilated cardiomyopathy 1G 6 conditions Cardiovascular phenotype Primary familial dilated cardiomyopathy Autosomal recessive titinopathy	Criteria Provided Multiple Submitters No Conflicts	CA261891	rs_72646846	17 SubmittersRCV000184247 RCV000211745 RCV000642745 RCV000768966 RCV001537860 RCV002477121 RCV002453326 RCV003387740 RCV006555379
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)	SNV Germline	Chr2:178589803	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy Hypertrophic cardiomyopathy Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tip-toe gait TTN-related disorder Malignant tumor of esophagus	Criteria Provided Conflicting Classifications	CA140235	rs_199895260	24 SubmittersRCV000040447 RCV000172651 RCV000279995 RCV000300024 RCV000335020 RCV000378989 RCV000401779 RCV000621320 RCV000768965 RCV000852829 RCV001084857 RCV002222152 RCV004534916 RCV005890170
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=)	SNV Germline	Chr2:178589340	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA283565	rs_72646848	16 SubmittersRCV000040452 RCV000247961 RCV000545656 RCV001082861 RCV001135748 RCV001135747 RCV001135744 RCV001135745 RCV001135746 RCV001171290
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)	SNV Germline	Chr2:178776385	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Cardiovascular phenotype Primary dilated cardiomyopathy Heart failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140248	rs_141213991	21 SubmittersRCV000040454 RCV000172728 RCV000329243 RCV000617741 RCV000852935 RCV001086722 RCV001798169 RCV004528211
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)	SNV Germline	Chr2:178589153	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140255	rs_200689750	16 SubmittersRCV000040455 RCV000172650 RCV000246008 RCV000263771 RCV000292758 RCV000318648 RCV000317683 RCV000387122 RCV000458325 RCV003149651
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)	SNV Germline	Chr2:178588731	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Cardiovascular phenotype Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140264	rs_375006117	15 SubmittersRCV000040457 RCV000268107 RCV000278904 RCV000323386 RCV000338583 RCV000373423 RCV000621929 RCV000726632 RCV001079539 RCV003149652
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=)	SNV Germline	Chr2:178588560	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy TTN-related disorder	Criteria Provided Conflicting Classifications	CA232501	rs_72646852	17 SubmittersRCV000040461 RCV000227404 RCV000621228 RCV000769986 RCV001079503 RCV001131027 RCV001131029 RCV001131026 RCV001131028 RCV001131030 RCV004732587
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp)	SNV Germline	Chr2:178588055	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA140280	rs_200726948	11 SubmittersRCV000040464 RCV000172292 RCV000248255 RCV000269467 RCV000332764 RCV000328753 RCV000367338 RCV000382596 RCV000852826 RCV001080206
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)	SNV Germline	Chr2:178776282	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy Cardiovascular phenotype TTN-related disorder Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA140284	rs_140914855	13 SubmittersRCV000040465 RCV000459694 RCV000725302 RCV001798170 RCV002345306 RCV004734572 RCV005054151
NM_001267550.2(TTN):c.63558G>A (p.Val21186=)	SNV Germline	Chr2:178587751	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140291	rs_200261892	3 SubmittersRCV000040466 RCV002054796 RCV002453329
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)	SNV Germline	Chr2:178587720	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary familial hypertrophic cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA140295	rs_72646855	18 SubmittersRCV000040467 RCV000082417 RCV000143969 RCV000262231 RCV000297845 RCV000357132 RCV000312697 RCV000393151 RCV000619500 RCV000852825 RCV001086280
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=)	SNV Germline	Chr2:178587332	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA140305	rs_200463088	11 SubmittersRCV000040470 RCV000245900 RCV000295521 RCV000294525 RCV000316505 RCV000334167 RCV000373573 RCV000475891 RCV001798171 RCV004534917 RCV005411309
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His)	SNV Germline	Chr2:178587294	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140309	rs_202240487	13 SubmittersRCV000040471 RCV000172287 RCV001086239 RCV001130765 RCV001130766 RCV001130768 RCV001130767 RCV001130769 RCV001170812 RCV002453331
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=)	SNV Germline	Chr2:178587269	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140314	rs_201285872	16 SubmittersRCV000040472 RCV000248175 RCV000475952 RCV001085677 RCV001130062 RCV001130063 RCV001130064 RCV001130065 RCV001135093 RCV001170811
NM_001267550.2(TTN):c.63960T>A (p.Val21320=)	SNV Germline	Chr2:178587251	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140318	rs_397517655	11 SubmittersRCV000040473 RCV000727351 RCV000769980 RCV001081322 RCV002453332
NM_001267550.2(TTN):c.64101G>A (p.Pro21367=)	SNV Germline	Chr2:178586800	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140326	rs_397517657	4 SubmittersRCV000040476 RCV000731919 RCV001087658 RCV002345307
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)	SNV Germline	Chr2:178586727	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Hypertrophic cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140336	rs_72646859	20 SubmittersRCV000040478 RCV000172649 RCV000244887 RCV001080680 RCV001129930 RCV001129931 RCV001130634 RCV001130633 RCV001130635 RCV001170810 RCV003319176 RCV004541165
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)	SNV Germline	Chr2:178776196	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Systolic heart failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140341	rs_146496197	14 SubmittersRCV000040480 RCV000172727 RCV000264307 RCV000299606 RCV000298490 RCV000358988 RCV000393329 RCV000852934 RCV001083255 RCV001798172 RCV002345308 RCV004534918
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)	SNV Germline	Chr2:178584852	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140358	rs_150661999	20 SubmittersRCV000040483 RCV000082419 RCV000620024 RCV000852822 RCV001079485 RCV001134837 RCV001134839 RCV001134836 RCV001134838 RCV001134840 RCV001798173
NM_001267550.2(TTN):c.65187G>A (p.Glu21729=)	SNV Germline	Chr2:178584364	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140377	rs_397517660	7 SubmittersRCV000040489 RCV001170805 RCV001727544 RCV002514153 RCV004018901
NM_001267550.2(TTN):c.65276-8T>C	SNV Germline	Chr2:178583914	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA210974	rs_377484398	5 SubmittersRCV000040491 RCV000727837 RCV001084825 RCV004541166
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)	SNV Germline	Chr2:178583723	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140385	rs_56130023	14 SubmittersRCV000040492 RCV000172648 RCV000289204 RCV000285866 RCV000325515 RCV000341054 RCV000383806 RCV000617230 RCV001084400 RCV001170804 RCV004534919
NM_001267550.2(TTN):c.65575+10T>C	SNV Germline	Chr2:178583597	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA344682	rs_72646864	13 SubmittersRCV000040494 RCV000204359 RCV001133051 RCV001133050 RCV001133052 RCV001136493 RCV001136494 RCV001701487 RCV003149653 RCV004541167
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=)	SNV Germline	Chr2:178583199	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA283609	rs_200825430	14 SubmittersRCV000040495 RCV000253653 RCV000466167 RCV000768959 RCV001132125 RCV001132126 RCV001132122 RCV001132124 RCV001132123 RCV001200435 RCV004541168
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln)	SNV Germline	Chr2:178583056	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA140394	rs_148849567	15 SubmittersRCV000040499 RCV000241625 RCV000282835 RCV000337921 RCV000341241 RCV000408381 RCV000381175 RCV000466378 RCV001170583 RCV001703903 RCV004528213
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=)	SNV Germline	Chr2:178583028	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA283624	rs_72646867	18 SubmittersRCV000040500 RCV000225958 RCV000274823 RCV000326526 RCV000329910 RCV000369611 RCV000384695 RCV000621981 RCV000768957 RCV001529138
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=)	SNV Germline	Chr2:178776041	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA283629	rs_149668487	17 SubmittersRCV000040501 RCV000643663 RCV001085536 RCV001128880 RCV001128882 RCV001128879 RCV001128881 RCV001131552 RCV001170110 RCV002345311
NM_001267550.2(TTN):c.583+5G>A	SNV Germline	Chr2:178800390	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided	Criteria Provided Conflicting Classifications	CA140399	rs_397517663	6 SubmittersRCV000040502 RCV000642802 RCV001573352
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His)	SNV Germline	Chr2:178582370	Conflicting classifications of pathogenicity	Cardiovascular phenotype Primary dilated cardiomyopathy not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA140400	rs_72646868	10 SubmittersRCV002362633 RCV005621862 RCV000040503 RCV000460102 RCV000714070
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)	SNV Germline	Chr2:178581978	Conflicting classifications of pathogenicity	not specified Condition: not provided 6 conditions Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140405	rs_140842479	10 SubmittersRCV000040504 RCV000184735 RCV000765558 RCV001088816 RCV002321531
NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter)	SNV Germline	Chr2:178581650	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Multiple Submitters No Conflicts	CA261896	rs_397517664	2 SubmittersRCV000040507 RCV003764698
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn)	SNV Germline	Chr2:178581595	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140414	rs_72646870	9 SubmittersRCV000040508 RCV000473534 RCV000714072 RCV002371842
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His)	SNV Germline	Chr2:178581576	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Thymoma Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA210975	rs_200971254	17 SubmittersRCV000040510 RCV000459532 RCV000619559 RCV001082762 RCV001132756 RCV001132757 RCV001170580 RCV001136161 RCV001136162 RCV001136163 RCV005890171 RCV005890172
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile)	SNV Germline	Chr2:178580481	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA140433	rs_200343420	10 SubmittersRCV000040513 RCV000266781 RCV000269962 RCV000323852 RCV000327353 RCV000384336 RCV000456180 RCV000617644 RCV001703904
NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr)	SNV Germline	Chr2:178580462	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140437	rs_397517667	6 SubmittersRCV000040514 RCV000621653 RCV000727127 RCV001087265 RCV001170578
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)	SNV Germline	Chr2:178580188	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Brugada syndrome Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Tip-toe gait TTN-related disorder	Criteria Provided Conflicting Classifications	CA140450	rs_72646873	22 SubmittersRCV000040518 RCV000230180 RCV000260453 RCV000275767 RCV000318112 RCV000333256 RCV000368971 RCV000621791 RCV000852821 RCV001083546 RCV001170577 RCV002221193 RCV004541169
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg)	SNV Germline	Chr2:178580140	Conflicting classifications of pathogenicity	Condition: not provided Dilated cardiomyopathy 1G not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140455	rs_372388682	7 SubmittersRCV001507592 RCV003989305 RCV000040519 RCV000462522 RCV000618423
NM_001267550.2(TTN):c.597A>G (p.Val199=)	SNV Germline	Chr2:178799897	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140463	rs_144214844	7 SubmittersRCV000040522 RCV000727055 RCV001087951 RCV002354201 RCV004534920
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)	SNV Germline	Chr2:178775871	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Tip-toe gait Cardiomyopathy TTN-related myopathy	Criteria Provided Conflicting Classifications	CA140473	rs_144135510	19 SubmittersRCV000040526 RCV000172726 RCV000243819 RCV001085386 RCV001135885 RCV001135886 RCV001135887 RCV001135884 RCV001135883 RCV002225279 RCV003149655 RCV003993766
NM_001267550.2(TTN):c.67960G>C (p.Asp22654His)	SNV Germline	Chr2:178579070	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure	Criteria Provided Conflicting Classifications	CA140484	rs_144295295	3 SubmittersRCV000040528 RCV001134379 RCV001135840 RCV001135838 RCV001135839 RCV001135841
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro)	SNV Germline	Chr2:178578057	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Condition: not provided Hypertrophic cardiomyopathy Cardiomyopathy 6 conditions TTN-related disorder	Criteria Provided Conflicting Classifications	CA140519	rs_72646880	15 SubmittersRCV000040538 RCV000282806 RCV000307639 RCV000337009 RCV000342426 RCV000405692 RCV000463057 RCV000618829 RCV001093056 RCV001293209 RCV001798175 RCV001787841 RCV004534921
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)	SNV Germline	Chr2:178576311	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy TTN-related disorder Brugada syndrome	Criteria Provided Conflicting Classifications	CA140538	rs_201043950	22 SubmittersRCV000040547 RCV000251867 RCV000714083 RCV001086284 RCV001133870 RCV001133871 RCV001133872 RCV001133873 RCV001133874 RCV001798176 RCV004534922 RCV004732463
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)	SNV Germline	Chr2:178576229	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140543	rs_372799151	11 SubmittersRCV000040548 RCV000725637 RCV001080058 RCV001170571 RCV002326749 RCV004534923
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile)	SNV Germline	Chr2:178576228	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140548	rs_190421400	9 SubmittersRCV000040549 RCV000246349 RCV000726999 RCV001088941 RCV003149656
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)	SNV Germline	Chr2:178575640	Conflicting classifications of pathogenicity	Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA140578	rs_370771532	8 SubmittersRCV001130763 RCV001130764 RCV001130762 RCV001133729 RCV001133730 RCV002326752 RCV000040556 RCV000184775 RCV000544602
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=)	SNV Germline	Chr2:178575455	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA283682	rs_72646890	19 SubmittersRCV000040559 RCV000247488 RCV000225796 RCV000768943 RCV001079505 RCV001135087 RCV001135084 RCV001135085 RCV001135086 RCV001135088 RCV004528215
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys)	SNV Germline	Chr2:178575384	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G 6 conditions Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140591	rs_397517687	7 SubmittersRCV000040561 RCV000469845 RCV000764320 RCV001311960 RCV001798178
NM_001267550.2(TTN):c.70815G>A (p.Val23605=)	SNV Germline	Chr2:178575317	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA283692	rs_55847238	19 SubmittersRCV000040562 RCV000273614 RCV000247125 RCV000328195 RCV000270031 RCV000362297 RCV000389086 RCV000513284 RCV000768941 RCV001082634
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val)	SNV Germline	Chr2:178575300	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA283702	rs_72646891	15 SubmittersRCV000040564 RCV000227732 RCV000249890 RCV000295463 RCV000337737 RCV000294398 RCV000352767 RCV000390725 RCV000768940 RCV001081336 RCV004534924
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=)	SNV Germline	Chr2:178575299	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140595	rs_377220635	9 SubmittersRCV000040565 RCV000727288 RCV001088879 RCV001134966 RCV001134967 RCV001134968 RCV001134969 RCV001134970 RCV002326754 RCV004541172
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr)	SNV Germline	Chr2:178775511	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Tip-toe gait Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA283707	rs_56404770	17 SubmittersRCV000040567 RCV000204975 RCV000250798 RCV000265924 RCV000285494 RCV000321007 RCV000345056 RCV000381017 RCV000770129 RCV001353375 RCV002227054 RCV004541173
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=)	SNV Germline	Chr2:178574759	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140607	rs_56245285	11 SubmittersRCV000040569 RCV000285577 RCV000284462 RCV000347647 RCV000372899 RCV000376588 RCV000732480 RCV001083091 RCV002326755
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)	SNV Germline	Chr2:178574530	Pathogenic/Likely pathogenic	Condition: not provided Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Primary familial dilated cardiomyopathy Cardiomyopathy Cardiovascular phenotype 6 conditions Dilated cardiomyopathy 1G Hypertrophic cardiomyopathy 9 Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA261901	rs_397517689	19 SubmittersRCV000184258 RCV000208052 RCV000542963 RCV000623243 RCV000768934 RCV002326756 RCV002490565 RCV003448251 RCV003152675 RCV004734574
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)	SNV Germline	Chr2:178574427	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Premature ventricular contraction TTN-related disorder	Criteria Provided Conflicting Classifications	CA140617	rs_55837610	16 SubmittersRCV000040572 RCV000172643 RCV000252755 RCV000263162 RCV000315908 RCV000330895 RCV000370274 RCV000374141 RCV000768933 RCV001079127 RCV001781363 RCV004534925
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile)	SNV Germline	Chr2:178574251	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140622	rs_397517690	7 SubmittersRCV000040573 RCV000725281 RCV001088776 RCV001293079 RCV002326757
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)	SNV Germline	Chr2:178574000	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Tip-toe gait TTN-related disorder TTN-related myopathy	Criteria Provided Conflicting Classifications	CA283729	rs_56169243	17 SubmittersRCV000040578 RCV000205454 RCV000300762 RCV000249434 RCV000355560 RCV000313330 RCV000393450 RCV000393452 RCV001081981 RCV001170340 RCV002226451 RCV004534926 RCV003993768
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val)	SNV Germline	Chr2:178573995	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140631	rs_146767076	14 SubmittersRCV000040579 RCV000172642 RCV001084590 RCV001133161 RCV001133158 RCV001133160 RCV001133157 RCV001133159 RCV002326758
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val)	SNV Germline	Chr2:178573951	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140640	rs_201482015	7 SubmittersRCV000040581 RCV000727728 RCV001087461 RCV002326759
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)	SNV Germline	Chr2:178573753	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140644	rs_149763294	12 SubmittersRCV000040582 RCV000285232 RCV000310657 RCV000334264 RCV000396450 RCV000403418 RCV000725033 RCV001083817 RCV001170337 RCV002336144 RCV004541174
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr)	SNV Germline	Chr2:178573950	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA140649	rs_200471370	8 SubmittersRCV000040583 RCV000460260 RCV000620443 RCV000723985
NM_001267550.2(TTN):c.72488G>A (p.Arg24163His)	SNV Germline	Chr2:178573644	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA140653	rs_374712231	5 SubmittersRCV000040584 RCV000558833 RCV001703906
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala)	SNV Germline	Chr2:178775386	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA140658	rs_397517693	5 SubmittersRCV000040585 RCV002362634 RCV000727443 RCV000539387
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln)	SNV Germline	Chr2:178573350	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140664	rs_142874389	16 SubmittersRCV000040587 RCV000172641 RCV000288602 RCV000343679 RCV000349884 RCV000388861 RCV000397203 RCV001080138 RCV002336145 RCV003149657
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)	SNV Germline	Chr2:178573201	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy	Criteria Provided Conflicting Classifications	CA140669	rs_56201325	20 SubmittersRCV000040588 RCV000118779 RCV000249950 RCV000769952 RCV001083516 RCV001131595 RCV001131997 RCV001131999 RCV001131996 RCV001131998
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala)	SNV Germline	Chr2:178572964	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA140678	rs_182491843	17 SubmittersRCV000040590 RCV000253827 RCV000264085 RCV000322850 RCV000328591 RCV000377423 RCV000383061 RCV000474900 RCV000769950 RCV001703907
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)	SNV Germline	Chr2:178572307	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Condition: not provided Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tip-toe gait	Criteria Provided Conflicting Classifications	CA140683	rs_55762754	21 SubmittersRCV000040592 RCV000247787 RCV000314072 RCV000301041 RCV000336155 RCV000367543 RCV000458685 RCV000396511 RCV000769945 RCV001083733 RCV002223143
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)	SNV Germline	Chr2:178571605	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Condition: not provided Ventricular tachycardia Primary dilated cardiomyopathy Cardiomyopathy 6 conditions	Criteria Provided Conflicting Classifications	CA140696	rs_373527654	13 SubmittersRCV000040598 RCV000534367 RCV000621675 RCV000724394 RCV000852812 RCV001293173 RCV003486596 RCV005394232
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)	SNV Germline	Chr2:178774998	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Ventricular tachycardia Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140701	rs_201284459	15 SubmittersRCV000040600 RCV000172466 RCV000467881 RCV000852931 RCV001131310 RCV001131307 RCV001131308 RCV001131309 RCV001131311 RCV001798179 RCV002362635
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu)	SNV Germline	Chr2:178571241	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140708	rs_72646899	11 SubmittersRCV000040601 RCV000288129 RCV000339683 RCV000345344 RCV000397267 RCV000397257 RCV000714090 RCV001082391 RCV002336147 RCV004541175
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)	SNV Germline	Chr2:178571237	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140713	rs_201512527	19 SubmittersRCV000040602 RCV000249030 RCV000471721 RCV000768930 RCV001086359 RCV001128971 RCV001128973 RCV001128972 RCV001128974 RCV001131634 RCV004534927
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp)	SNV Germline	Chr2:178571098	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Primary dilated cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140718	rs_368914555	12 SubmittersRCV000040605 RCV000464020 RCV001093053 RCV001134503 RCV001134502 RCV001134504 RCV001135950 RCV001171268 RCV001135951 RCV001293087 RCV002336148 RCV004534928
NM_001267550.2(TTN):c.76070G>A (p.Arg25357His)	SNV Germline	Chr2:178570062	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided	Criteria Provided Conflicting Classifications	CA140740	rs_397517703	4 SubmittersRCV000040612 RCV000467480 RCV001534450
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=)	SNV Germline	Chr2:178570019	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA283771	rs_140350441	15 SubmittersRCV000040613 RCV000233046 RCV000289871 RCV000304997 RCV000362069 RCV000397350 RCV000390049 RCV000619539 RCV000768924 RCV001082582
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val)	SNV Germline	Chr2:178569459	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Hypertrophic cardiomyopathy 9 Dilated cardiomyopathy 1G Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140756	rs_201095164	10 SubmittersRCV000040618 RCV000172252 RCV000271372 RCV000303107 RCV000306562 RCV000365850 RCV000400010 RCV001085393 RCV003448252 RCV003486598 RCV004541177
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=)	SNV Germline	Chr2:178569410	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA283786	rs_55696153	18 SubmittersRCV000040620 RCV000234701 RCV000269503 RCV000247729 RCV000277480 RCV000313845 RCV000364093 RCV000367544 RCV000768922 RCV001081795
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)	SNV Germline	Chr2:178569059	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy	Criteria Provided Conflicting Classifications	CA140764	rs_375398118	9 SubmittersRCV000040623 RCV000620778 RCV000714097 RCV001088371 RCV001133863 RCV001133864 RCV001133865 RCV001133866 RCV001133862
NM_001267550.2(TTN):c.77205G>A (p.Val25735=)	SNV Germline	Chr2:178568927	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140774	rs_55857909	19 SubmittersRCV000040625 RCV000618047 RCV000714098 RCV001086724 RCV001130891 RCV001130893 RCV001130895 RCV001130892 RCV001130894 RCV003486599
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)	SNV Germline	Chr2:178568319	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140792	rs_186681106	15 SubmittersRCV000040631 RCV000264343 RCV000324153 RCV000359085 RCV000360289 RCV000389951 RCV000476610 RCV000768918 RCV001081320 RCV002336150 RCV004534929
NM_001267550.2(TTN):c.77816A>C (p.Asp25939Ala)	SNV Germline	Chr2:178568316	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided 6 conditions	Criteria Provided Conflicting Classifications	CA140797	rs_397517712	7 SubmittersRCV000040632 RCV000526838 RCV001574137 RCV002504912
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe)	SNV Germline	Chr2:178568284	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA140801	rs_376814602	10 SubmittersRCV000040633 RCV000172251 RCV000768917 RCV001081540 RCV002336151 RCV005394233
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His)	SNV Germline	Chr2:178774107	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy	Criteria Provided Conflicting Classifications	CA283801	rs_75031300	16 SubmittersRCV000040635 RCV000252219 RCV000472312 RCV000770124 RCV001092342 RCV001131193 RCV001131190 RCV001131191 RCV001131192 RCV001131194
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)	SNV Germline	Chr2:178567240	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Premature ventricular contraction Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140814	rs_72648205	15 SubmittersRCV000040638 RCV000247997 RCV000643181 RCV000726516 RCV001134832 RCV001134833 RCV001134834 RCV001134831 RCV001134830 RCV001781364 RCV003149658 RCV004534931
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)	SNV Germline	Chr2:178566906	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Cardiomyopathy Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA140828	rs_72648206	15 SubmittersRCV000040642 RCV000172633 RCV000296264 RCV000348884 RCV000317619 RCV000397192 RCV000388436 RCV000467348 RCV000620048 RCV000852500 RCV005625239
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His)	SNV Germline	Chr2:178566813	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA283828	rs_56044609	18 SubmittersRCV000040645 RCV000228748 RCV000248962 RCV000769940 RCV001132349 RCV001132348 RCV001132350 RCV001132351 RCV001132352 RCV001573281 RCV004541178
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)	SNV Germline	Chr2:178773995	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140833	rs_374509926	6 SubmittersRCV000040646 RCV000725211 RCV001088352 RCV002362636
NM_001267550.2(TTN):c.80271C>T (p.Val26757=)	SNV Germline	Chr2:178565861	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA140848	rs_199875474	14 SubmittersRCV000040654 RCV000249905 RCV000302475 RCV000306368 RCV000342552 RCV000359525 RCV000399521 RCV000465955 RCV001170789 RCV001529926
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser)	SNV Germline	Chr2:178565707	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140856	rs_369941201	10 SubmittersRCV000040656 RCV000154047 RCV000242849 RCV000471525 RCV000852499
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys)	SNV Germline	Chr2:178565149	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140873	rs_397517719	10 SubmittersRCV000040663 RCV000617992 RCV000726121 RCV001079917 RCV001132747 RCV001132749 RCV001132748 RCV001136159 RCV001136160 RCV001798182
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)	SNV Germline	Chr2:178565027	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy	Criteria Provided Conflicting Classifications	CA283874	rs_72648212	15 SubmittersRCV000040665 RCV000620096 RCV000726275 RCV001080788 RCV001131747 RCV001129079 RCV001129078 RCV001131746 RCV001131748 RCV001170787
NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr)	SNV Germline	Chr2:178564668	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140878	rs_397517720	3 SubmittersRCV000040666 RCV000524889 RCV000617267
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter)	SNV Germline	Chr2:178564600	Likely pathogenic	Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Primary familial dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA261909	rs_397517721	3 SubmittersRCV000040667 RCV001378905 RCV001290682
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=)	SNV Germline	Chr2:178564574	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder Hypertrophic cardiomyopathy 2	Criteria Provided Conflicting Classifications	CA283879	rs_56181243	20 SubmittersRCV000040669 RCV000243142 RCV000289639 RCV000311788 RCV000343025 RCV000392160 RCV000401208 RCV000756835 RCV000768912 RCV001083853 RCV004528221 RCV004595900
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)	SNV Germline	Chr2:178564461	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype TTN-related disorder not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA140891	rs_368443217	11 SubmittersRCV001170785 RCV002345315 RCV004541180 RCV000040671 RCV000643828 RCV000727800
NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile)	SNV Germline	Chr2:178564276	Conflicting classifications of pathogenicity	Condition: not provided not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA140895	rs_372784067	4 SubmittersRCV001697136 RCV000040673 RCV000643291
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)	SNV Germline	Chr2:178564233	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140899	rs_55850344	12 SubmittersRCV000040674 RCV000176835 RCV000227596 RCV000415094 RCV000619262 RCV000768910
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly)	SNV Germline	Chr2:178564029	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA140913	rs_145373396	9 SubmittersRCV000040678 RCV000456789 RCV000619273 RCV001811298 RCV004541182
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)	SNV Germline	Chr2:178563912	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140918	rs_376037252	7 SubmittersRCV000040679 RCV000361272 RCV000265407 RCV000391590 RCV000300600 RCV000304128 RCV000726237 RCV002345317
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln)	SNV Germline	Chr2:178563730	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140922	rs_201958805	11 SubmittersRCV000040681 RCV000300172 RCV000353764 RCV000322064 RCV000357436 RCV000456607 RCV000768905 RCV000787943 RCV000997376 RCV002345318
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg)	SNV Germline	Chr2:178563643	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure TTN-related disorder	Criteria Provided Conflicting Classifications	CA140926	rs_201158906	20 SubmittersRCV000040682 RCV000184884 RCV000620912 RCV000768904 RCV001086569 RCV001135731 RCV001135727 RCV001135728 RCV001135729 RCV001135730 RCV004534933
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)	SNV Germline	Chr2:178563572	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140931	rs_56264840	21 SubmittersRCV000040684 RCV000082434 RCV000280746 RCV000277428 RCV000316062 RCV000369656 RCV000373068 RCV000620318 RCV000852805 RCV001082278 RCV001798183
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)	SNV Germline	Chr2:178563441	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140936	rs_55634791	17 SubmittersRCV000040686 RCV000267329 RCV000302688 RCV000327142 RCV000362027 RCV000363058 RCV000724925 RCV001427304 RCV001798184 RCV002345320
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly)	SNV Germline	Chr2:178562961	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy	Criteria Provided Conflicting Classifications	CA140941	rs_201896662	11 SubmittersRCV000040691 RCV000172628 RCV000252102 RCV000476606 RCV001130325 RCV001130327 RCV001130324 RCV001130326 RCV001130323 RCV001170783
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)	SNV Germline	Chr2:178562851	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Dilated cardiomyopathy 1G Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA140946	rs_371788070	14 SubmittersRCV000040692 RCV000171313 RCV000466706 RCV000769925 RCV001330312 RCV002345321 RCV004734575
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)	SNV Germline	Chr2:178562833	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140951	rs_184643087	10 SubmittersRCV000040693 RCV000725532 RCV001087252 RCV002345322 RCV003149659 RCV004534934
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)	SNV Germline	Chr2:178562514	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype 6 conditions TTN-related disorder	Criteria Provided Conflicting Classifications	CA140964	rs_200775919	11 SubmittersRCV000040697 RCV000172229 RCV000283706 RCV000320147 RCV000341923 RCV000380228 RCV000372050 RCV000559104 RCV000620676 RCV000764310 RCV004541183
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr)	SNV Germline	Chr2:178562262	Conflicting classifications of pathogenicity	not specified Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Brugada syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140968	rs_148067743	7 SubmittersRCV000040699 RCV000335686 RCV000293712 RCV000336932 RCV000375171 RCV000392066 RCV000475754 RCV000727431 RCV000852498 RCV002345323
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His)	SNV Germline	Chr2:178773345	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA140973	rs_397517725	8 SubmittersRCV000040700 RCV000172460 RCV000242133 RCV000287099 RCV000309186 RCV000347654 RCV000339655 RCV000403204 RCV000463035
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)	SNV Germline	Chr2:178561869	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA140979	rs_200450022	15 SubmittersRCV000040701 RCV000172224 RCV001084560 RCV001130623 RCV001130624 RCV001130625 RCV001130627 RCV001130626 RCV002345324 RCV003149660 RCV004734576
NM_001267550.2(TTN):c.84448T>C (p.Tyr28150His)	SNV Germline	Chr2:178561684	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA140988	rs_397517727	5 SubmittersRCV000040704 RCV000907241 RCV001798185 RCV003137570
NM_001267550.2(TTN):c.84553C>T (p.Arg28185Ter)	SNV Germline	Chr2:178561579	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Primary familial dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA141001	rs_397517729	5 SubmittersRCV000040708 RCV004819212 RCV005222726 RCV004991995 RCV005237461
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp)	SNV Germline	Chr2:178561436	Conflicting classifications of pathogenicity	not specified Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141005	rs_397517730	5 SubmittersRCV000040709 RCV000274794 RCV000318173 RCV000332698 RCV000375092 RCV000387249 RCV000726293 RCV001087454 RCV002345326
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)	SNV Germline	Chr2:178561209	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Congestive heart failure Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA141009	rs_201674674	16 SubmittersRCV000040710 RCV000176789 RCV000531860 RCV000852801 RCV002354203 RCV005025095
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln)	SNV Germline	Chr2:178561155	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Tibial muscular dystrophy Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141014	rs_200843338	15 SubmittersRCV000040711 RCV000247193 RCV000305618 RCV000335949 RCV000341787 RCV000391984 RCV000406632 RCV000477567 RCV000726282 RCV001170551
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr)	SNV Germline	Chr2:178561092	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided	Criteria Provided Conflicting Classifications	CA141018	rs_397517731	7 SubmittersRCV001798186 RCV002354204 RCV000040712 RCV000227162 RCV000724198
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys)	SNV Germline	Chr2:178560726	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA141026	rs_202040332	9 SubmittersRCV000040715 RCV000769914 RCV001080928 RCV001134724 RCV001134725 RCV001134726 RCV001134727 RCV001134723 RCV002354205 RCV003883486
NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr)	SNV Germline	Chr2:178560153	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA141043	rs_397517733	4 SubmittersRCV002354207 RCV003137571 RCV000040719 RCV000643724
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile)	SNV Germline	Chr2:178559661	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G not specified Cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141051	rs_200709344	9 SubmittersRCV000232855 RCV000040723 RCV000768877 RCV000997368 RCV002354208
NM_001267550.2(TTN):c.86526T>G (p.Val28842=)	SNV Germline	Chr2:178559606	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA141055	rs_72648226	12 SubmittersRCV000040724 RCV000724569 RCV001081370 RCV001129501 RCV001129502 RCV001129503 RCV001129500 RCV001129499 RCV001798187 RCV002354209 RCV004541184
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met)	SNV Germline	Chr2:178559449	Conflicting classifications of pathogenicity	not specified Condition: not provided Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141059	rs_201290358	11 SubmittersRCV000040725 RCV000172219 RCV000291684 RCV000307010 RCV000346476 RCV000393775 RCV000402859 RCV001081280 RCV001170545 RCV002354210
NM_001267550.2(TTN):c.86821+2T>A	SNV Germline	Chr2:178559309	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Cardiovascular phenotype 6 conditions Dilated cardiomyopathy 1G TTN-related disorder Autosomal recessive titinopathy	Criteria Provided Multiple Submitters No Conflicts	CA261913	rs_397517735	14 SubmittersRCV000040727 RCV000184278 RCV000627778 RCV000768876 RCV002354211 RCV002490567 RCV003389235 RCV004541185 RCV005055544
NM_001267550.2(TTN):c.86910C>T (p.Gly28970=)	SNV Germline	Chr2:178558549	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141064	rs_397517736	5 SubmittersRCV000040728 RCV000727331 RCV001490570 RCV002354212
NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=)	SNV Germline	Chr2:178558009	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141075	rs_369444690	4 SubmittersRCV000040731 RCV000727242 RCV001078979 RCV003162349
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg)	SNV Germline	Chr2:178557987	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141079	rs_375198596	9 SubmittersRCV000040732 RCV000643680 RCV000725253 RCV001798188 RCV002354213
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)	SNV Germline	Chr2:178557942	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Primary dilated cardiomyopathy Cardiomyopathy Tip-toe gait	Criteria Provided Conflicting Classifications	CA141084	rs_72648227	21 SubmittersRCV000040733 RCV000172625 RCV000618830 RCV001086492 RCV001129292 RCV001129291 RCV001131993 RCV001131994 RCV001131995 RCV001293177 RCV001798189 RCV002227443
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)	SNV Germline	Chr2:178557731	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141089	rs_201831707	11 SubmittersRCV000040734 RCV000225888 RCV000244493 RCV000726191 RCV001136274 RCV001129285 RCV001136271 RCV001136272 RCV001136273 RCV001798190
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)	SNV Germline	Chr2:178557454	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141102	rs_141624266	20 SubmittersRCV000040738 RCV000118785 RCV000307938 RCV000313315 RCV000370289 RCV000397868 RCV000403035 RCV001080518 RCV001170318 RCV002354214
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His)	SNV Germline	Chr2:178557126	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141113	rs_73036368	10 SubmittersRCV000040741 RCV000118786 RCV000476079 RCV001798191 RCV002354215
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser)	SNV Germline	Chr2:178557064	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141118	rs_183013408	11 SubmittersRCV000040742 RCV000270510 RCV000327903 RCV000334082 RCV000362829 RCV000384731 RCV000475243 RCV000618175 RCV000725444 RCV001798192
NM_001267550.2(TTN):c.88183T>C (p.Phe29395Leu)	SNV Germline	Chr2:178556971	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA141123	rs_55940667	5 SubmittersRCV000040743 RCV000172214 RCV000245043 RCV001086668
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)	SNV Germline	Chr2:178555065	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Condition: not provided Cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Hypertrophic cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA141128	rs_146181116	23 SubmittersRCV000040746 RCV000242549 RCV000262196 RCV000266709 RCV000319678 RCV000354841 RCV000367586 RCV000471049 RCV000768870 RCV000852799 RCV001081488
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met)	SNV Germline	Chr2:178555000	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA141137	rs_200899806	13 SubmittersRCV000040748 RCV000723789 RCV001084841 RCV001170314 RCV001132651 RCV001132652 RCV001132653 RCV001132654 RCV001132655 RCV002354217 RCV004534935
NM_001267550.2(TTN):c.88485C>T (p.Leu29495=)	SNV Germline	Chr2:178554974	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA141142	rs_371612136	14 SubmittersRCV000040750 RCV000535039 RCV000618466 RCV000768869 RCV001131625 RCV001131626 RCV001131627 RCV001131628 RCV001132650 RCV001796719 RCV004541188
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)	SNV Germline	Chr2:178554626	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA141150	rs_111727915	12 SubmittersRCV000040752 RCV000282040 RCV000348715 RCV000352269 RCV000374104 RCV000386956 RCV000725034 RCV001085079 RCV001170313 RCV002354219 RCV004534937
NM_001267550.2(TTN):c.89136C>T (p.Asn29712=)	SNV Germline	Chr2:178553975	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA141155	rs_376289479	9 SubmittersRCV000040754 RCV000867974 RCV001134365 RCV001134366 RCV001134364 RCV001135832 RCV001135831 RCV001703911 RCV002354220 RCV004541189
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)	SNV Germline	Chr2:178553579	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA141163	rs_72648238	18 SubmittersRCV000040758 RCV000172208 RCV001082145 RCV001134225 RCV001134226 RCV001134228 RCV001134227 RCV001134229 RCV001798193 RCV002362637 RCV004734578
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)	SNV Germline	Chr2:178552953	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy EBV-positive nodal T- and NK-cell lymphoma	Criteria Provided Conflicting Classifications	CA141176	rs_397517746	9 SubmittersRCV000040762 RCV000458878 RCV000733290 RCV002362639 RCV003147329 RCV004558291
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)	SNV Germline	Chr2:178552364	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141188	rs_149567378	21 SubmittersRCV000040766 RCV000082444 RCV000269727 RCV000320246 RCV000310741 RCV000364179 RCV000365525 RCV000617583 RCV000852796 RCV001083905 RCV001798194
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)	SNV Germline	Chr2:178552276	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA141193	rs_370479059	13 SubmittersRCV000040768 RCV000251412 RCV000727784 RCV000769888 RCV001083455
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)	SNV Germline	Chr2:178552074	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy TTN-related myopathy	Criteria Provided Conflicting Classifications	CA141197	rs_150430592	21 SubmittersRCV000040770 RCV000082445 RCV000278620 RCV000327591 RCV000286969 RCV000373393 RCV000376846 RCV000618823 RCV000852794 RCV001083184 RCV001798195 RCV003993769
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=)	SNV Germline	Chr2:178551184	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA284025	rs_193022702	18 SubmittersRCV000040776 RCV000234492 RCV000769884 RCV001085113 RCV001133860 RCV001133859 RCV001133861 RCV001133857 RCV001133858 RCV002362641
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=)	SNV Germline	Chr2:178551106	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Tibial muscular dystrophy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA141214	rs_145133144	12 SubmittersRCV000040777 RCV000726356 RCV001088287 RCV001130186 RCV001130882 RCV001130184 RCV001130183 RCV001130185 RCV002362642 RCV004541190
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)	SNV Germline	Chr2:178550237	Conflicting classifications of pathogenicity	not specified Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA141227	rs_182549226	11 SubmittersRCV000040781 RCV000294400 RCV000347053 RCV000359863 RCV000307351 RCV000403395 RCV000723853 RCV001081378 RCV002362643 RCV003149661 RCV004541191
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg)	SNV Germline	Chr2:178550217	Conflicting classifications of pathogenicity	not specified Condition: not provided Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Distal myopathy	Criteria Provided Conflicting Classifications	CA141232	rs_200854704	11 SubmittersRCV000040782 RCV000172620 RCV000282263 RCV000316301 RCV000295443 RCV000352604 RCV000373589 RCV000457779 RCV002362644 RCV005625240
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)	SNV Germline	Chr2:178550073	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141236	rs_148617456	20 SubmittersRCV000040783 RCV000082447 RCV000621123 RCV000852791 RCV001082275 RCV001130053 RCV001135074 RCV001135075 RCV001135076 RCV001135077 RCV001798197
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp)	SNV Germline	Chr2:178549680	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA141246	rs_201400267	12 SubmittersRCV000040787 RCV000172200 RCV000472772 RCV001134952 RCV001134953 RCV001134955 RCV001134954 RCV001134956 RCV003486607 RCV002354221 RCV005394234
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)	SNV Germline	Chr2:178549450	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Early-onset myopathy with fatal cardiomyopathy Supraventricular tachycardia Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiomyopathy Tip-toe gait TTN-related myopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA141251	rs_72648247	23 SubmittersRCV000040789 RCV000082448 RCV000247505 RCV000290790 RCV000852789 RCV001083918 RCV001132527 RCV001132528 RCV001798198 RCV002227930 RCV003993770 RCV004534939
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg)	SNV Germline	Chr2:178549293	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141256	rs_201019681	9 SubmittersRCV000040791 RCV000643343 RCV000726970 RCV001129835 RCV001129836 RCV001129837 RCV001129838 RCV001129839 RCV002362645 RCV003486608
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp)	SNV Germline	Chr2:178549175	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA141261	rs_397517755	9 SubmittersRCV001698952 RCV002362646 RCV000040793 RCV000226810
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala)	SNV Germline	Chr2:178549089	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Primary dilated cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141265	rs_77968867	17 SubmittersRCV000040794 RCV000714120 RCV000768860 RCV000852788 RCV001082181 RCV001129729 RCV001132436 RCV001132437 RCV001132438 RCV001132439 RCV002362647
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His)	SNV Germline	Chr2:178548844	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA141274	rs_397517756	10 SubmittersRCV000040797 RCV000464223 RCV000726117 RCV002362648 RCV005394235
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu)	SNV Germline	Chr2:178548259	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA141278	rs_202096200	8 SubmittersRCV000040800 RCV000172195 RCV001087420 RCV002371845
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)	SNV Germline	Chr2:178547726	Conflicting classifications of pathogenicity	not specified Condition: not provided Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Conflicting Classifications	CA284075	rs_200173934	18 SubmittersRCV000040805 RCV000233211 RCV000295092 RCV000350053 RCV000345296 RCV000389462 RCV000396326 RCV000622010 RCV000768857 RCV001086039
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)	SNV Germline	Chr2:178546805	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA284085	rs_376539252	12 SubmittersRCV000040810 RCV000328211 RCV000332146 RCV000288131 RCV000367671 RCV000382848 RCV000768855 RCV000726857 RCV001085173 RCV002362653
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met)	SNV Germline	Chr2:178546799	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Tibial muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure TTN-related myopathy	Criteria Provided Conflicting Classifications	CA141305	rs_397517759	5 SubmittersRCV000040811 RCV000247537 RCV000277148 RCV000298221 RCV000356392 RCV000353169 RCV000390504 RCV004786313
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=)	SNV Germline	Chr2:178546485	Conflicting classifications of pathogenicity	not specified Condition: not provided Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy	Criteria Provided Conflicting Classifications	CA284090	rs_72648255	19 SubmittersRCV000040813 RCV000228324 RCV000290312 RCV000341684 RCV000402372 RCV000345101 RCV000397865 RCV000621726 RCV001086327 RCV001171238
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu)	SNV Germline	Chr2:178546480	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J TTN-related disorder	Criteria Provided Conflicting Classifications	CA141313	rs_72648256	16 SubmittersRCV000040814 RCV000252550 RCV000513556 RCV000768854 RCV001082680 RCV001131865 RCV001132851 RCV001131864 RCV001131866 RCV001131867 RCV004534941
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp)	SNV Germline	Chr2:178546253	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA141318	rs_2288326	6 SubmittersRCV000040817 RCV000172188 RCV000268106 RCV000272165 RCV000325497 RCV000360898 RCV000382966 RCV001083436
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys)	SNV Germline	Chr2:178545994	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA141327	rs_142525903	13 SubmittersRCV000040821 RCV000172617 RCV000620427 RCV001079500 RCV001131616 RCV001131617 RCV001131618 RCV001131620 RCV001131619 RCV001170761 RCV004534943
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=)	SNV Germline	Chr2:178545992	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Condition: not provided TTN-related disorder Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA284115	rs_368243641	12 SubmittersRCV000040822 RCV000244797 RCV000467863 RCV001128957 RCV001131613 RCV001128956 RCV001131614 RCV001131615 RCV001529974 RCV004534944 RCV005890216
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)	SNV Germline	Chr2:178545939	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Cardiomyopathy	Criteria Provided Conflicting Classifications	CA141332	rs_191484894	21 SubmittersRCV000040824 RCV000082453 RCV000620998 RCV000852787 RCV001082921 RCV001134487 RCV001135944 RCV001135945 RCV001135946 RCV001135947 RCV001798200
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)	SNV Germline	Chr2:178545457	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Cardiovascular phenotype Cardiomyopathy Ventricular fibrillation Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G TTN-related disorder	Criteria Provided Conflicting Classifications	CA141349	rs_72648263	20 SubmittersRCV000040830 RCV000172615 RCV000270075 RCV000292373 RCV000327509 RCV000349608 RCV000380825 RCV000621105 RCV000769875 RCV000852785 RCV001085084 RCV004534945

NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)

SNV
Germline

Chr13:23324513

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339932

rs_104894422

10 SubmittersRCV000002083 RCV001090241

NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)

SNV
Germline

Chr13:23324452

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA220515

rs_104894423

14 SubmittersRCV000002086 RCV000078408 RCV004766977 RCV005480313

NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)

SNV
Germline

Chr11:22255485

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy
ANO5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA224408

rs_137854524

10 SubmittersRCV000002246 RCV000082843 RCV000762831 RCV001851575 RCV003234889 RCV004732524

NM_213599.3(ANO5):c.692G>T (p.Gly231Val)

SNV
Germline

Chr11:22236206

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
ANO5-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Hereditary fructosuria
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy
Acute rhabdomyolysis
Nonpapillary renal cell carcinoma
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA224418

rs_137854523

30 SubmittersRCV000002249 RCV000082853 RCV000369126 RCV000627782 RCV000825558 RCV000762830 RCV003993729 RCV003993730 RCV005865150 RCV005887208 RCV005887209

NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)

SNV
Germline

Chr11:22274605

Pathogenic

Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy
ANO5 Muscle Disease

Reviewed By Expert Panel

CA130516

rs_137854529

22 SubmittersRCV000002250 RCV000032966 RCV000128778 RCV000811162 RCV004998071 RCV005249979

NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser)

SNV
Germline

Chr9:105604372

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4

Criteria Provided
Multiple Submitters
No Conflicts

CA116061

rs_119463996

3 SubmittersRCV000003358 RCV000626166 RCV005409594

NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)

SNV
Germline

Chr9:105617968

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2M
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA116072

rs_119463992

10 SubmittersRCV000003362 RCV000724028 RCV001036532 RCV001192872 RCV001254647 RCV003466793 RCV004991964 RCV005041974 RCV006261717

NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr)

SNV
Germline

Chr9:105601319

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA116076

rs_119463995

3 SubmittersRCV000003368 RCV000675045 RCV001851612

NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)

SNV
Germline

Chr9:105620001

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Criteria Provided
Conflicting Classifications

CA116084

rs_119464998

10 SubmittersRCV000003370 RCV000554503 RCV002433443 RCV004566677 RCV003466794 RCV005632154 RCV005041975

NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)

SNV
Germline

Chr9:105617967

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4

Criteria Provided
Multiple Submitters
No Conflicts

CA116088

rs_267606814

13 SubmittersRCV000003371 RCV000498134 RCV000795218 RCV002444418 RCV003466795 RCV004819203 RCV005003319

NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)

SNV
Germline

Chr14:77278849

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Multiple Submitters
No Conflicts

CA252628

rs_119463989

6 SubmittersRCV000003373 RCV000336243 RCV003230345 RCV005003320

NM_013382.7(POMT2):c.1006+1G>A

SNV
Germline

Chr14:77298688

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Multiple Submitters
No Conflicts

CA252631

rs_533916138

6 SubmittersRCV000003374 RCV000379703 RCV001203685

NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)

SNV
Germline

Chr14:77278764

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Condition: not provided
Muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
POMT2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA116093

rs_200198778

11 SubmittersRCV000003377 RCV000003376 RCV000081569 RCV000193219 RCV000648175 RCV003398429

NM_013382.7(POMT2):c.2177G>A (p.Gly726Glu)

SNV
Germline

Chr14:77277452

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA116095

rs_267606969

2 SubmittersRCV000003378 RCV000030874 RCV005222664

NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg)

SNV
Germline

Chr14:77277387

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Multiple Submitters
No Conflicts

CA116100

rs_267606964

3 SubmittersRCV000003380 RCV000551490

NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro)

SNV
Germline

Chr14:77288777

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA223063

rs_190285831

7 SubmittersRCV000003381 RCV000081563 RCV001240349

NM_013382.7(POMT2):c.551C>T (p.Thr184Met)

SNV
Germline

Chr14:77302940

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Intellectual disability
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Multiple Submitters
No Conflicts

CA223089

rs_267606971

10 SubmittersRCV000003385 RCV000723643 RCV001203060 RCV001252357 RCV004700184 RCV003472965

NM_013382.7(POMT2):c.248+5G>C

SNV
Germline

Chr14:77320429

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA116104

rs_587777816

2 SubmittersRCV000003390 RCV003764520

NM_013382.7(POMT2):c.1333-14G>A

SNV
Germline

Chr14:77285646

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Criteria Provided
Multiple Submitters
No Conflicts

CA263823667

rs_918556979

4 SubmittersRCV000003391 RCV001851613 RCV003480018

NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg)

SNV
Germline

Chr9:131506217

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA278040

rs_28941782

3 SubmittersRCV000003394 RCV001171882 RCV005055501

NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)

SNV
Germline

Chr9:131510401

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Abnormality of the musculature
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Multiple Submitters
No Conflicts

CA278042

rs_119462981

6 SubmittersRCV000003395 RCV001813941 RCV003231073 RCV003764521

NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)

SNV
Germline

Chr9:131509801

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Abnormality of the nervous system
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Multiple Submitters
No Conflicts

CA203493

rs_119462982

12 SubmittersRCV000003399 RCV000179928 RCV001385876 RCV001264826 RCV001813942 RCV003234890 RCV003472966 RCV005357065

NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)

SNV
Germline

Chr9:131506184

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA116108

rs_119462983

4 SubmittersRCV002512705 RCV002286389 RCV003460408 RCV005887254

NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)

SNV
Germline

Chr9:131518945

Pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Multiple Submitters
No Conflicts

CA116110

rs_119462985

5 SubmittersRCV000760355 RCV001851614 RCV002286390 RCV005041976

NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)

SNV
Germline

Chr9:131521351

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
not specified

Criteria Provided
Conflicting Classifications

CA116112

rs_119462986

4 SubmittersRCV000175324 RCV002286391 RCV003764522 RCV006456598

NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)

SNV
Germline

Chr9:131522160

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA116114

rs_119462987

8 SubmittersRCV000414180 RCV000694423 RCV002286394 RCV003460409

NM_001077365.2(POMT1):c.1175+1G>A

SNV
Germline

Chr9:131513332

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA200787505

rs_1051679985

4 SubmittersRCV001383583 RCV002286395 RCV003472967 RCV005055502

NM_017739.4(POMGNT1):c.1413+1G>T

SNV
Germline

Chr1:46192307

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA116538

rs_587777821

2 SubmittersRCV001377279 RCV001847568

NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)

SNV
Germline

Chr1:46190473

Pathogenic/Likely pathogenic

Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA116540

rs_193919335

4 SubmittersRCV000169201 RCV001847570 RCV005406722

NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)

SNV
Germline

Chr1:46192397

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
Autosomal recessive limb-girdle muscular dystrophy
Retinal dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA116547

rs_28940869

12 SubmittersRCV000150001 RCV000984303 RCV000984302 RCV000984210 RCV000984301 RCV001219572 RCV001847573 RCV002512738 RCV002222337 RCV004814821 RCV005025002

NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)

SNV
Germline

Chr1:46193873

Pathogenic/Likely pathogenic

Muscle eye brain disease
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA211242

rs_193919336

10 SubmittersRCV000049989 RCV001582464 RCV001370524 RCV001847574 RCV002509144 RCV002512739 RCV005862697

NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)

SNV
Germline

Chr1:46197018

Pathogenic

Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76

Criteria Provided
Multiple Submitters
No Conflicts

CA116550

rs_193919337

7 SubmittersRCV000240891 RCV001390610 RCV001529546 RCV001847575 RCV004566681 RCV005016236

NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)

SNV
Germline

Chr1:46189973

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
not specified
Condition: not provided
Muscle eye brain disease
Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Structural eye disease

Criteria Provided
Conflicting Classifications

CA116557

rs_74374973

16 SubmittersRCV000004204 RCV000081801 RCV000710195 RCV000671438 RCV001097781 RCV001082774 RCV001579238 RCV001579237 RCV001449938 RCV005400692

NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)

SNV
Germline

Chr1:46189539

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA116560

rs_267606962

9 SubmittersRCV000004205 RCV000671290 RCV000824425 RCV001268426 RCV002512740 RCV003322587

NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)

SNV
Germline

Chr1:46192168

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
POMGNT1-related disorder
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA116564

rs_267606960

11 SubmittersRCV000004207 RCV000411094 RCV000798530 RCV001091843 RCV002476922 RCV003460424 RCV004532285 RCV002512742

NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter)

SNV
Germline

Chr19:46756604

Pathogenic/Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Multiple Submitters
No Conflicts

CA116697

rs_104894680

6 SubmittersRCV000634067 RCV002226439 RCV003137491 RCV003460427 RCV003352746 RCV005025007

NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)

SNV
Germline

Chr19:46756793

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA116699

rs_104894681

7 SubmittersRCV000360542 RCV000763056 RCV002226440 RCV002381242 RCV003466807 RCV003591620

NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)

SNV
Germline

Chr19:46756276

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy
Limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
8 conditions
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Myopathy
Autosomal recessive limb-girdle muscular dystrophy
Cardiovascular phenotype
Myopathy caused by variation in FKRP
FKRP-related disorder
Neuronopathy, distal hereditary motor, type 2B
FKRP-related muscular dystrophy-dystroglycanopathy
Hereditary skeletal muscle disorder
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Nizon-Isidor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA116701

rs_28937900

51 SubmittersRCV000004442 RCV000082182 RCV000231711 RCV000503787 RCV000612115 RCV000660622 RCV000626960 RCV001329320 RCV001197775 RCV001526640 RCV002222338 RCV002408451 RCV003993736 RCV004532287 RCV004776425 RCV005401279 RCV005624670 RCV005357072 RCV004776426

NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)

SNV
Germline

Chr19:46756936

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA116704

rs_104894682

6 SubmittersRCV000004444 RCV000471321 RCV000501528 RCV000725596 RCV002222339

NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)

SNV
Germline

Chr19:46756396

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Condition: not provided
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA116706

rs_28937901

5 SubmittersRCV000004445 RCV000675047 RCV003144104 RCV003591621

NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)

SNV
Germline

Chr19:46756814

Pathogenic

Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Multiple Submitters
No Conflicts

CA116710

rs_28937903

11 SubmittersRCV000004447 RCV000201040 RCV000532707 RCV000597675 RCV003466808

NM_024301.5(FKRP):c.1213G>T (p.Val405Leu)

SNV
Germline

Chr19:46756663

Likely pathogenic

Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Single Submitter

CA116712

rs_28937904

3 SubmittersRCV000004448 RCV003466809 RCV005614366

NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)

SNV
Germline

Chr19:46755610

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA116714

rs_28937905

5 SubmittersRCV000004449 RCV003591622 RCV004700187

NM_024301.5(FKRP):c.235G>A (p.Val79Met)

SNV
Germline

Chr19:46755685

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2I
not specified
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA116716

rs_104894683

16 SubmittersRCV000004450 RCV000236146 RCV000513718 RCV001083979 RCV002444421

NM_024301.5(FKRP):c.764G>A (p.Trp255Ter)

SNV
Germline

Chr19:46756214

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I

No Assertion Criteria Provided

CA116718

rs_104894689

1 SubmittersRCV000004451

NM_024301.5(FKRP):c.899T>C (p.Val300Ala)

SNV
Germline

Chr19:46756349

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Multiple Submitters
No Conflicts

CA116722

rs_104894691

14 SubmittersRCV000004453 RCV000732974 RCV000814162 RCV001813735 RCV002371759 RCV003466810 RCV003155013 RCV005003334

NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)

SNV
Germline

Chr19:46756369

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Condition: not provided
Walker-Warburg congenital muscular dystrophy
FKRP-related disorder
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA116724

rs_104894692

8 SubmittersRCV000004454 RCV000004455 RCV000494504 RCV000805125 RCV000844942 RCV003488324

NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)

SNV
Germline

Chr19:46756837

Pathogenic/Likely pathogenic

Muscular dystrophy
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA116728

rs_121908110

13 SubmittersRCV000194089 RCV000178346 RCV000540601 RCV001254718 RCV001273521 RCV002226441 RCV002490307 RCV003114175 RCV003460429 RCV004018553

NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)

SNV
Germline

Chr17:39665762

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2G
Hypertrophic cardiomyopathy 25
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy 25
Primary familial hypertrophic cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2G
Hypertrophic cardiomyopathy 25
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA117567

rs_104894655

7 SubmittersRCV000005861 RCV000037790 RCV000211741 RCV001380074 RCV002496272 RCV005749510

NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter)

SNV
Germline

Chr2:71553071

Pathogenic

Miyoshi muscular dystrophy 1
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA253901

rs_121908953

4 SubmittersRCV000007047 RCV000301362 RCV003574697 RCV006445460

NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)

SNV
Germline

Chr2:71682597

Pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Abnormality of the musculature
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222203

rs_121908955

15 SubmittersRCV000007051 RCV000007052 RCV000080320 RCV000815134 RCV001813961 RCV005025020 RCV006252413

NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)

SNV
Germline

Chr2:71564074

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA222139

rs_121908956

5 SubmittersRCV000007055 RCV000007056 RCV000790785 RCV000807968 RCV005430920

NM_001130987.2(DYSF):c.5174+5G>A

SNV
Germline

Chr2:71664443

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Reviewed By Expert Panel

CA253906

rs_745891180

6 SubmittersRCV000007057 RCV001781198 RCV002298436 RCV001851715 RCV003466824

NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)

SNV
Germline

Chr2:71570300

Pathogenic/Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA222147

rs_28937581

10 SubmittersRCV000007059 RCV000176869 RCV000790765 RCV001232546 RCV004525846 RCV005031402

NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)

SNV
Germline

Chr2:71570704

Pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222152

rs_121908958

11 SubmittersRCV000007060 RCV000176936 RCV000763088 RCV000790688 RCV001229764 RCV006252414

NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)

SNV
Germline

Chr2:71674242

Pathogenic

Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA118412

rs_121908959

14 SubmittersRCV000007062 RCV000007063 RCV000007061 RCV000080312 RCV000808564 RCV003114177 RCV005025022

NM_001130987.2(DYSF):c.1927G>T (p.Asp643Tyr)

SNV
Germline

Chr2:71553131

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

No Assertion Criteria Provided

CA253909

rs_121908960

1 SubmittersRCV000007064

NM_001130987.2(DYSF):c.5318A>G (p.Glu1773Gly)

SNV
Germline

Chr2:71667376

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

No Assertion Criteria Provided

CA253911

rs_121908961

1 SubmittersRCV000007065

NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)

SNV
Germline

Chr2:71551073

Pathogenic

Miyoshi muscular dystrophy 1
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA253913

rs_121908962

8 SubmittersRCV000007066 RCV000342783 RCV001048974 RCV005237357

NM_001130987.2(DYSF):c.3497-33A>G

SNV
Germline

Chr2:71590178

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

No Assertion Criteria Provided

CA253915

rs_786205083

1 SubmittersRCV000007067

NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)

SNV
Germline

Chr2:71517028

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA253916

rs_121908963

8 SubmittersRCV000007068 RCV000726614 RCV001388966 RCV003460431 RCV006252415

NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)

SNV
Germline

Chr2:71517028

Pathogenic

Miyoshi muscular dystrophy 1
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA253918

rs_121908963

5 SubmittersRCV000007069 RCV000594920 RCV003159090 RCV006252416

NM_001130987.2(DYSF):c.1381-2A>G

SNV
Germline

Chr2:71535019

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA253920

rs_786200897

4 SubmittersRCV000007070 RCV003574698 RCV005430921

NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)

SNV
Germline

Chr19:10793832

Pathogenic

Autosomal dominant centronuclear myopathy
Centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B
Charcot-Marie-Tooth disease
Condition: not provided
Limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA118658

rs_121909090

11 SubmittersRCV000007703 RCV000145899 RCV000641108 RCV001027496 RCV001537068 RCV005624680

NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)

SNV
Germline

Chr5:156595042

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2F
Autosomal recessive limb-girdle muscular dystrophy type 2F
Dilated cardiomyopathy 1L
Condition: not provided
Dilated cardiomyopathy 1L
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA340747

rs_121909295

9 SubmittersRCV000008650 RCV000664788 RCV000760352 RCV003473058 RCV004998079

NM_000337.6(SGCD):c.89G>A (p.Trp30Ter)

SNV
Germline

Chr5:156344574

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Single Submitter

CA340750

rs_121909296

2 SubmittersRCV000008651

NM_000337.6(SGCD):c.784G>A (p.Glu262Lys)

SNV
Germline

Chr5:156759301

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2F
Dilated cardiomyopathy 1L

Criteria Provided
Multiple Submitters
No Conflicts

CA340753

rs_121909297

3 SubmittersRCV000008652 RCV004566697

NM_000337.6(SGCD):c.391G>C (p.Ala131Pro)

SNV
Germline

Chr5:156594940

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2F

No Assertion Criteria Provided

CA340756

rs_267607045

1 SubmittersRCV000008656

NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp)

SNV
Germline

Chr8:143924012

Pathogenic

Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Simplex epidermolysis bullosa_Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Multiple Submitters
No Conflicts

CA340759

rs_80338756

8 SubmittersRCV000008751 RCV000519116 RCV001352838 RCV001381863

NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter)

SNV
Germline

Chr8:143920817

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

CA249467

rs_137853161

2 SubmittersRCV000008755 RCV001851744

NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)

SNV
Germline

Chr3:8745627

Conflicting classifications of pathogenicity

Rippling muscle disease 2
Condition: not provided
not specified
Limb-girdle muscular dystrophy
Cardiovascular phenotype
Hypertrophic cardiomyopathy 1
Elevated circulating creatine kinase concentration
Distal myopathy, Tateyama type
Long QT syndrome 9
Rippling muscle disease 2
Long QT syndrome 1
Cardiomyopathy
Long QT syndrome
Caveolinopathy
CAV3-related disorder

Criteria Provided
Conflicting Classifications

CA175393

rs_116840776

20 SubmittersRCV000008769 RCV000024381 RCV000150236 RCV000171752 RCV000249612 RCV000477819 RCV000987087 RCV000769171 RCV001084478 RCV001144018 RCV003952349

NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)

SNV
Germline

Chr4:52028899

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA119849

rs_28936383

8 SubmittersRCV000009250 RCV000598498 RCV004998080

NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter)

SNV
Germline

Chr4:52028799

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Single Submitter

CA119851

rs_104893868

3 SubmittersRCV000009251

NM_000232.5(SGCB):c.272G>C (p.Arg91Pro)

SNV
Germline

Chr4:52029835

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

No Assertion Criteria Provided

CA119854

rs_104893869

1 SubmittersRCV000009254

NM_000232.5(SGCB):c.323T>G (p.Leu108Arg)

SNV
Germline

Chr4:52029784

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA119856

rs_104893870

3 SubmittersRCV000009255 RCV006456607

NM_000232.5(SGCB):c.299T>A (p.Met100Lys)

SNV
Germline

Chr4:52029808

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA119858

rs_104893871

6 SubmittersRCV000009256

NM_000232.5(SGCB):c.272G>T (p.Arg91Leu)

SNV
Germline

Chr4:52029835

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA119860

rs_104893869

3 SubmittersRCV000009257 RCV000727513

NM_000023.4(SGCA):c.293G>A (p.Arg98His)

SNV
Germline

Chr17:50167717

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA120423

rs_137852621

11 SubmittersRCV000010042 RCV000725507 RCV002307361

NM_000023.4(SGCA):c.524T>C (p.Val175Ala)

SNV
Germline

Chr17:50168512

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

No Assertion Criteria Provided

CA120425

rs_137852622

1 SubmittersRCV000010043

NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)

SNV
Germline

Chr17:50167653

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided
Sarcoglycanopathy
Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA120427

rs_28933693

30 SubmittersRCV000010044 RCV000077937 RCV000779225 RCV001813971 RCV003987316 RCV005624683

NM_000023.4(SGCA):c.410A>G (p.Glu137Gly)

SNV
Germline

Chr17:50168398

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

No Assertion Criteria Provided

CA120429

rs_397514451

1 SubmittersRCV000010045

NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)

SNV
Germline

Chr17:50170245

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided
Sarcoglycanopathy
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA120431

rs_137852623

17 SubmittersRCV000010046 RCV000498385 RCV000778108 RCV001194149

NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)

SNV
Germline

Chr2:178527121

Likely pathogenic

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA341209

rs_267607156

6 SubmittersRCV000013489 RCV001378935 RCV001781256 RCV005237373

NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)

SNV
Germline

Chr2:178527148

Pathogenic/Likely pathogenic

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA341213

rs_281864928

5 SubmittersRCV000013490 RCV001319595 RCV004767005

NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn)

SNV
Germline

Chr2:178738114

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA256521

rs_147879266

6 SubmittersRCV000013494 RCV000733710 RCV001089351 RCV004734516

NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)

SNV
Germline

Chr2:178799566

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA256527

rs_138060032

19 SubmittersRCV000013495 RCV000172493 RCV000219791 RCV000468349 RCV000617531 RCV000769143 RCV001131435 RCV001134416 RCV001134417 RCV001134418

NM_001927.4(DES):c.1154T>C (p.Leu385Pro)

SNV
Germline

Chr2:219421470

Likely pathogenic

Condition: not provided
Desmin-related myofibrillar myopathy
Limb-girdle muscular dystrophy

Criteria Provided
Single Submitter

CA217023

rs_57955682

3 SubmittersRCV000056775 RCV002265562 RCV005624695

NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)

SNV
Germline

Chr15:42410926

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Reviewed By Expert Panel

CA127306

rs_80338802

15 SubmittersRCV000020096 RCV000711017 RCV003473106 RCV005406749 RCV005007872

NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)

SNV
Germline

Chr15:42402972

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA341470

rs_121434544

14 SubmittersRCV000019180 RCV000726518 RCV001198825 RCV003323362 RCV005357147

NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)

SNV
Germline

Chr15:42384501

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Reviewed By Expert Panel

CA341471

rs_121434545

12 SubmittersRCV000019181 RCV001813749 RCV004998102 RCV005007873 RCV005630707

NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe)

SNV
Germline

Chr15:42360062

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA341473

rs_121434546

2 SubmittersRCV000019182

NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)

SNV
Germline

Chr15:42392649

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA341474

rs_121434547

8 SubmittersRCV000019183 RCV000417420 RCV003473107 RCV005007874

NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys)

SNV
Germline

Chr15:42394306

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

No Assertion Criteria Provided

CA341475

rs_267606703

1 SubmittersRCV000019186

NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)

SNV
Germline

Chr15:42401755

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Reviewed By Expert Panel

CA341479

rs_121434548

17 SubmittersRCV000019189 RCV000724646 RCV002222356 RCV002490391 RCV003473110

NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)

SNV
Germline

Chr2:71668842

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA253922

rs_786205084

7 SubmittersRCV000007073 RCV000723469 RCV001215439 RCV002476993 RCV006252426

NM_000070.3(CAPN3):c.946-1G>A

SNV
Germline

Chr15:42392638

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA341532

rs_80338801

2 SubmittersRCV000020097

NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter)

SNV
Germline

Chr8:143923055

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA249711

rs_387906802

5 SubmittersRCV000023092 RCV001007967 RCV001387924 RCV002273816

NM_058246.4(DNAJB6):c.277T>C (p.Phe93Leu)

SNV
Germline

Chr7:157367414

Pathogenic

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Single Submitter

CA259939

rs_387907046

2 SubmittersRCV000023891

NM_058246.4(DNAJB6):c.287C>G (p.Pro96Arg)

SNV
Germline

Chr7:157367424

Pathogenic

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA259941

rs_387907047

3 SubmittersRCV000023892 RCV000594360

NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu)

SNV
Germline

Chr7:157367416

Pathogenic

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA260014

rs_149278319

9 SubmittersRCV000024240 RCV000498905

NM_058246.4(DNAJB6):c.279C>A (p.Phe93Leu)

SNV
Germline

Chr7:157367416

Pathogenic

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA260015

rs_149278319

4 SubmittersRCV000024241 RCV000414366

NM_058246.4(DNAJB6):c.265T>A (p.Phe89Ile)

SNV
Germline/somatic

Chr7:157367402

Pathogenic

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Condition: not provided
Ehlers-Danlos syndrome, classic type, 2
Ehlers-Danlos syndrome, classic type, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA260016

rs_387907150

7 SubmittersRCV000024242 RCV000724639 RCV005428994

NM_001101426.4(CRPPA):c.1120-1G>T

SNV
Germline

Chr7:16216198

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Multiple Submitters
No Conflicts

CA260022

rs_397515396

4 SubmittersRCV000024269 RCV000344890 RCV000650387

NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter)

SNV
Germline

Chr7:16301454

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Multiple Submitters
No Conflicts

CA260031

rs_368593151

4 SubmittersRCV000024276 RCV000591620 RCV005222703

NM_004393.6(DAG1):c.1773C>T (p.Phe591=)

SNV
Germline

Chr3:49532284

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P

Criteria Provided
Conflicting Classifications

CA215252

rs_2229010

5 SubmittersRCV000024447 RCV001088550

NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)

SNV
Germline

Chr17:50168562

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided
Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA130100

rs_387907298

10 SubmittersRCV000030783 RCV000730723 RCV001836716 RCV004998112

NM_213599.3(ANO5):c.1407+5G>A

SNV
Germline

Chr11:22257759

Pathogenic/Likely pathogenic

Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA343748

rs_281865464

4 SubmittersRCV000032968 RCV000032553 RCV001091512 RCV006555352

NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp)

SNV
Germline

Chr9:131508913

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K

No Assertion Criteria Provided

CA211169

rs_397514501

1 SubmittersRCV000032629

NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)

SNV
Germline

Chr4:52029766

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E
Condition: not provided
Qualitative or quantitative defects of beta-sarcoglycan
Inborn genetic diseases
Limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA202230

rs_150518260

20 SubmittersRCV000177020 RCV000271872 RCV000340831 RCV001267013 RCV005862742 RCV006456637

NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)

SNV
Germline

Chr5:156759365

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Qualitative or quantitative defects of delta-sarcoglycan
Hypertrophic cardiomyopathy 1
Autosomal recessive limb-girdle muscular dystrophy type 2F
Primary dilated cardiomyopathy
SGCD-related disorder

Criteria Provided
Conflicting Classifications

CA132475

rs_397516338

10 SubmittersRCV000036266 RCV000172107 RCV000365095 RCV000584814 RCV001084187 RCV001293129 RCV003944896

NM_003673.4(TCAP):c.458G>A (p.Arg153His)

SNV
Germline

Chr17:39666063

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy 25
Hypertrophic cardiomyopathy 25
Autosomal recessive limb-girdle muscular dystrophy type 2G
Condition: not provided
Hypertrophic cardiomyopathy 25
Primary familial hypertrophic cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA134926

rs_149585781

7 SubmittersRCV000037797 RCV000170302 RCV000765349 RCV000766898 RCV001087199 RCV002336134

NM_003673.4(TCAP):c.60C>G (p.Ala20=)

SNV
Germline

Chr17:39665419

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Hypertrophic cardiomyopathy 25
Autosomal recessive limb-girdle muscular dystrophy type 2G
Condition: not provided
Hypertrophic cardiomyopathy 25
Primary familial hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA134937

rs_146502276

16 SubmittersRCV000037801 RCV000248291 RCV000275117 RCV000385933 RCV000723762 RCV001081526

NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr)

SNV
Germline

Chr2:178527235

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA138642

rs_193212275

9 SubmittersRCV000769835 RCV001509175 RCV002408527 RCV004534848 RCV000039843 RCV000464810

NM_001267550.2(TTN):c.107766T>C (p.Gly35922=)

SNV
Germline

Chr2:178527222

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138647

rs_147293964

13 SubmittersRCV000039844 RCV000245995 RCV000464935 RCV001131348 RCV001131347 RCV001131346 RCV001134349 RCV001134350 RCV001528464 RCV004534849

NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)

SNV
Germline

Chr2:178764203

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA138655

rs_148169214

12 SubmittersRCV000039847 RCV000172723 RCV001081037 RCV001129648 RCV001129650 RCV001129649 RCV001129651 RCV001134674 RCV002381318

NM_001267550.2(TTN):c.10114+5G>A

SNV
Germline

Chr2:178764172

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
TTN-related myopathy
Lung cancer

Criteria Provided
Conflicting Classifications

CA282639

rs_115985443

20 SubmittersRCV000039849 RCV000228929 RCV000247922 RCV000769098 RCV001133198 RCV001133199 RCV001133201 RCV001133200 RCV001133202 RCV001171818 RCV003993762 RCV005890137

NM_001267550.2(TTN):c.10188A>G (p.Glu3396=)

SNV
Germline

Chr2:178759099

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA282640

rs_183336802

15 SubmittersRCV000039850 RCV000585488 RCV001081342 RCV001133087 RCV001136534 RCV001136536 RCV001136533 RCV001136535 RCV001798128 RCV002399384

NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=)

SNV
Germline

Chr2:178759045

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA282647

rs_45447891

20 SubmittersRCV000039851 RCV000233026 RCV000246467 RCV000769097 RCV001080637 RCV001132162 RCV001132163 RCV001133086 RCV001132164 RCV001133085

NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln)

SNV
Germline

Chr2:178738264

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA138666

rs_202017278

5 SubmittersRCV000039854 RCV000172413 RCV000474160

NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)

SNV
Germline

Chr2:178738221

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA138670

rs_55906845

16 SubmittersRCV000039855 RCV000185316 RCV000554346 RCV000619842 RCV000769089 RCV001132041 RCV001132979 RCV001132980 RCV001132981 RCV001132982

NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn)

SNV
Germline

Chr2:178735913

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138675

rs_373378672

9 SubmittersRCV000039858 RCV000534664 RCV000724172 RCV001132890 RCV001132891 RCV001136315 RCV001136316 RCV001136317 RCV004724766

NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)

SNV
Germline

Chr2:178735911

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA138679

rs_184307461

12 SubmittersRCV000039859 RCV000727735 RCV001085828 RCV001798129

NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser)

SNV
Germline

Chr2:178735576

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138697

rs_72648925

20 SubmittersRCV000039864 RCV000172700 RCV000245398 RCV000769085 RCV001083213 RCV001131803 RCV001131799 RCV001131800 RCV001131801 RCV001131802 RCV004534850

NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys)

SNV
Germline

Chr2:178734926

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138702

rs_369933152

6 SubmittersRCV000039866 RCV000539374 RCV001719762

NM_001267550.2(TTN):c.1137A>G (p.Arg379=)

SNV
Germline

Chr2:178795030

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided
Tip-toe gait
TTN-related myopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA138707

rs_55972547

21 SubmittersRCV000039867 RCV000226691 RCV000248787 RCV000769138 RCV001130574 RCV001130575 RCV001135664 RCV001135666 RCV001135665 RCV001528655 RCV002225276 RCV003993763 RCV005394227

NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)

SNV
Germline

Chr2:178734746

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Supraventricular tachycardia
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA138719

rs_72648929

22 SubmittersRCV000039869 RCV000245443 RCV000273361 RCV000277012 RCV000331058 RCV000356589 RCV000416068 RCV000369337 RCV000769081 RCV000852913 RCV001079457 RCV002227928 RCV003993764

NM_001267550.2(TTN):c.15496+1G>A

SNV
Germline

Chr2:178734327

Pathogenic/Likely pathogenic

Neuromuscular disease
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA138728

rs_397517481

2 SubmittersRCV000039871 RCV001245126

NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)

SNV
Germline

Chr2:178733826

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
TTN-related disorder
Congenital myopathy
Hereditary skeletal muscle disorder

Criteria Provided
Conflicting Classifications

CA211174

rs_72648930

20 SubmittersRCV000039873 RCV000126097 RCV001082361 RCV001134549 RCV001134550 RCV001134551 RCV001134552 RCV001170871 RCV001131551 RCV002225075 RCV004534852 RCV005625233 RCV005625234

NM_001267550.2(TTN):c.16113T>C (p.Asn5371=)

SNV
Germline

Chr2:178733063

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138759

rs_143845692

10 SubmittersRCV000039883 RCV000245367 RCV000272671 RCV000277429 RCV000327716 RCV000367309 RCV000381306 RCV000469089 RCV001086930 RCV004541133

NM_001267550.2(TTN):c.16303G>A (p.Val5435Met)

SNV
Germline

Chr2:178732873

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Heart failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA282698

rs_72648937

21 SubmittersRCV000039884 RCV000242487 RCV000293024 RCV000333991 RCV000318931 RCV000387402 RCV000387868 RCV000458298 RCV000770101 RCV000852911 RCV001529446

NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)

SNV
Germline

Chr2:178732863

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138763

rs_190636272

16 SubmittersRCV000039885 RCV000172406 RCV001080301 RCV001130571 RCV001130572 RCV001130573 RCV001130570 RCV001135657 RCV003149638 RCV004541134

NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)

SNV
Germline

Chr2:178732515

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138772

rs_72648940

16 SubmittersRCV000039888 RCV000172697 RCV000249224 RCV000660557 RCV000852909 RCV001081556 RCV001131186 RCV001131188 RCV001131189 RCV001131187 RCV001170649 RCV004534854

NM_001267550.2(TTN):c.16621+7A>T

SNV
Germline

Chr2:178732433

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA282703

rs_10200398

16 SubmittersRCV000039889 RCV000474528 RCV001130461 RCV001085418 RCV001135532 RCV001135534 RCV001135531 RCV001135533 RCV004534855

NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)

SNV
Germline

Chr2:178731827

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Brugada syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
Sarcoma

Criteria Provided
Conflicting Classifications

CA138781

rs_72648942

24 SubmittersRCV000039891 RCV000118738 RCV000252018 RCV000284293 RCV000297377 RCV000336946 RCV000335998 RCV000394055 RCV000770092 RCV000852908 RCV001081837 RCV004534856 RCV005890138

NM_001267550.2(TTN):c.17183-7C>T

SNV
Germline

Chr2:178731590

Conflicting classifications of pathogenicity

not specified
Left ventricular noncompaction cardiomyopathy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138786

rs_371785683

12 SubmittersRCV000039892 RCV000157571 RCV000272411 RCV000285166 RCV000324946 RCV000342528 RCV000381839 RCV000471462 RCV001170647 RCV001815173

NM_001267550.2(TTN):c.17183-9T>C

SNV
Germline

Chr2:178731592

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA232536

rs_141687561

15 SubmittersRCV000039893 RCV000230568 RCV001135409 RCV001135410 RCV001135411 RCV001135412 RCV001135408 RCV001529758

NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)

SNV
Germline

Chr2:178731542

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Hypertrophic cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138791

rs_72648943

13 SubmittersRCV000039895 RCV000205655 RCV000725312 RCV000852907 RCV001130952 RCV001133898 RCV001133899 RCV001133900 RCV001133901 RCV001798130 RCV004534857

NM_001267550.2(TTN):c.1365G>A (p.Thr455=)

SNV
Germline

Chr2:178794432

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA138805

rs_145211131

5 SubmittersRCV000039898 RCV000270976 RCV000311791 RCV000368852 RCV000363227 RCV000408385 RCV000867716 RCV002381319

NM_001267550.2(TTN):c.1399-3C>T

SNV
Germline

Chr2:178793544

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA138811

rs_397517486

4 SubmittersRCV000461970 RCV000039900 RCV001092344 RCV002390168

NM_001267550.2(TTN):c.17928G>A (p.Leu5976=)

SNV
Germline

Chr2:178730605

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA246489

rs_373963067

6 SubmittersRCV000039904 RCV000526756 RCV000724392 RCV003486571

NM_001267550.2(TTN):c.18173G>A (p.Arg6058His)

SNV
Germline

Chr2:178730227

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138816

rs_376012117

4 SubmittersRCV000039906 RCV000225778 RCV003436926

NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)

SNV
Germline

Chr2:178729493

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138833

rs_369544339

7 SubmittersRCV000039912 RCV000545466 RCV000725041

NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn)

SNV
Germline

Chr2:178729411

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138838

rs_201263441

10 SubmittersRCV000039913 RCV000172695 RCV000313481 RCV000335088 RCV000370482 RCV000394105 RCV000390068 RCV001087573 RCV001170641 RCV004545740

NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)

SNV
Germline

Chr2:178729380

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Atrial fibrillation
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA138843

rs_72648949

22 SubmittersRCV000039914 RCV000246252 RCV000229581 RCV000289663 RCV000283432 RCV000340760 RCV000341928 RCV000380242 RCV000852902 RCV001080584 RCV001170640

NM_001267550.2(TTN):c.18816T>C (p.Ile6272=)

SNV
Germline

Chr2:178729340

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138848

rs_146219199

13 SubmittersRCV000039915 RCV000253545 RCV000272168 RCV000329497 RCV000330701 RCV000370173 RCV000387580 RCV000462864 RCV001170639 RCV001311557

NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)

SNV
Germline

Chr2:178729332

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA138852

rs_184412722

20 SubmittersRCV000039916 RCV000082364 RCV000262868 RCV000302779 RCV000296922 RCV000355321 RCV000342596 RCV000852901 RCV001082917 RCV001798131

NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile)

SNV
Germline

Chr2:178729300

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA282728

rs_149131555

13 SubmittersRCV000039918 RCV000226134 RCV000290608 RCV000304112 RCV000345615 RCV000349032 RCV000402296 RCV000769068

NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr)

SNV
Germline

Chr2:178728776

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138872

rs_72648953

20 SubmittersRCV000039923 RCV000154091 RCV000769064 RCV001086633 RCV001134662 RCV001134664 RCV001134665 RCV001134666 RCV001134663 RCV004534862

NM_001267550.2(TTN):c.19356C>T (p.Ser6452=)

SNV
Germline

Chr2:178728570

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA138877

rs_369275615

6 SubmittersRCV000039927 RCV000274068 RCV000325828 RCV000329256 RCV000368729 RCV000383781 RCV000865191 RCV001079227

NM_001267550.2(TTN):c.19715-4A>G

SNV
Germline

Chr2:178727867

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA138885

rs_375009631

7 SubmittersRCV000039930 RCV000726302 RCV001087185 RCV003149639

NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)

SNV
Germline

Chr2:178727840

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA282763

rs_116572520

13 SubmittersRCV000039931 RCV000228030 RCV000294624 RCV000291004 RCV000349495 RCV000315973 RCV000385353 RCV000769059

NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn)

SNV
Germline

Chr2:178727615

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138890

rs_397517493

4 SubmittersRCV000039933 RCV000643024 RCV001703895

NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)

SNV
Germline

Chr2:178727190

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA138899

rs_146627500

19 SubmittersRCV000039937 RCV000082367 RCV000264795 RCV000319862 RCV000260706 RCV000304724 RCV000359492 RCV000852896 RCV001082940 RCV001798132

NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)

SNV
Germline

Chr2:178725987

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138912

rs_149470241

18 SubmittersRCV000039940 RCV000082369 RCV001086508 RCV001132885 RCV001132886 RCV001132887 RCV001132888 RCV001132889 RCV001798133 RCV004541135

NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)

SNV
Germline

Chr2:178725981

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder
Distal myopathy
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA138917

rs_72648958

20 SubmittersRCV000039941 RCV000172694 RCV001079880 RCV001131917 RCV001131918 RCV001131919 RCV001132883 RCV001132884 RCV001798134 RCV004534864 RCV005625236 RCV005625235

NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala)

SNV
Germline

Chr2:178725406

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138930

rs_200118743

15 SubmittersRCV000039945 RCV000172393 RCV001081728 RCV001129108 RCV001129109 RCV001129107 RCV001131791 RCV001131792 RCV001170088 RCV004018898 RCV004734557

NM_001267550.2(TTN):c.1709C>T (p.Ala570Val)

SNV
Germline

Chr2:178790799

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138935

rs_146690035

10 SubmittersRCV000039946 RCV000172490 RCV000852945 RCV001085831 RCV001130955 RCV001130956 RCV001130957 RCV001130954 RCV001130953 RCV004541136

NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)

SNV
Germline

Chr2:178724356

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA282788

rs_114626713

15 SubmittersRCV000039949 RCV000713983 RCV001081389 RCV001136098 RCV001136099 RCV001136095 RCV001136096 RCV001136097 RCV003486573

NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp)

SNV
Germline

Chr2:178724086

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA282803

rs_72648964

16 SubmittersRCV000039952 RCV000249879 RCV000225946 RCV001128990 RCV001128991 RCV001128992 RCV001128993 RCV001128994 RCV001528458

NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)

SNV
Germline

Chr2:178723895

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138945

rs_201394117

15 SubmittersRCV000039953 RCV000082370 RCV000278937 RCV000275531 RCV000367843 RCV000333001 RCV000389765 RCV001079235 RCV001170083 RCV004734558

NM_001267550.2(TTN):c.21404-4A>G

SNV
Germline

Chr2:178723700

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary familial hypertrophic cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA231585

rs_72648965

16 SubmittersRCV000039954 RCV000118741 RCV000143964 RCV001082089 RCV001134544 RCV001134546 RCV001134548 RCV001134545 RCV001134547 RCV004534866

NM_001267550.2(TTN):c.1776T>C (p.Asp592=)

SNV
Germline

Chr2:178790732

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138950

rs_147081804

7 SubmittersRCV000039955 RCV000555156 RCV001135275 RCV001135276 RCV001135277 RCV001135278 RCV001135274 RCV001170667 RCV001598619

NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)

SNV
Germline

Chr2:178723432

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138962

rs_138853909

16 SubmittersRCV000039958 RCV000269064 RCV000326449 RCV000350254 RCV000388473 RCV000384905 RCV000713986 RCV001086766 RCV001170080 RCV004534867

NM_001267550.2(TTN):c.1800+1G>A

SNV
Germline

Chr2:178790707

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Schizophrenia

Criteria Provided
Conflicting Classifications

CA261846

rs_397517497

5 SubmittersRCV000039959 RCV000184208 RCV000503453 RCV000707086 RCV005625237

NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)

SNV
Germline

Chr2:178722809

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA138988

rs_397517500

12 SubmittersRCV000039966 RCV000643520 RCV001573334 RCV002477118 RCV003486574 RCV003319175

NM_001267550.2(TTN):c.22241-5T>C

SNV
Germline

Chr2:178722551

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138993

rs_397517501

6 SubmittersRCV000039967 RCV001396572 RCV001719763 RCV004534868

NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)

SNV
Germline

Chr2:178722401

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA138994

rs_183482849

13 SubmittersRCV000039969 RCV001065236 RCV001130567 RCV001130569 RCV001130568 RCV001130565 RCV001130566 RCV001507605 RCV003149640 RCV004534869

NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)

SNV
Germline

Chr2:178722029

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139004

rs_72648969

22 SubmittersRCV000039973 RCV000205601 RCV000267036 RCV000320876 RCV000325323 RCV000380195 RCV000384525 RCV000770074 RCV001529752

NM_001267550.2(TTN):c.22968C>T (p.Asn7656=)

SNV
Germline

Chr2:178721051

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA282840

rs_201904848

8 SubmittersRCV000039977 RCV000287408 RCV000322519 RCV000375799 RCV000342343 RCV000377175 RCV000474181 RCV003137562

NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)

SNV
Germline

Chr2:178720641

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA282852

rs_72648971

14 SubmittersRCV000039982 RCV000726226 RCV001130943 RCV001084613 RCV001133896 RCV001130944 RCV001133897 RCV001133895 RCV001171041

NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu)

SNV
Germline

Chr2:178720585

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139019

rs_17452588

19 SubmittersRCV000039983 RCV000248207 RCV000278120 RCV000284280 RCV000331984 RCV000337890 RCV000372590 RCV000373899 RCV000755421 RCV000770071 RCV001529703

NM_001267550.2(TTN):c.23301C>T (p.Ser7767=)

SNV
Germline

Chr2:178720461

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA282862

rs_73038337

15 SubmittersRCV000039986 RCV000246470 RCV000463595 RCV001133767 RCV001133769 RCV001133768 RCV001133770 RCV001133771 RCV001528272 RCV003486576

NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)

SNV
Germline

Chr2:178720460

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Tip-toe gait
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139029

rs_72648973

21 SubmittersRCV000039987 RCV000154089 RCV000249580 RCV000270207 RCV000299836 RCV000305761 RCV000359255 RCV000402503 RCV001081260 RCV001171039 RCV001358669 RCV004534871

NM_001267550.2(TTN):c.23378-10C>A

SNV
Germline

Chr2:178720274

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA210970

rs_72648975

10 SubmittersRCV000039988 RCV000417750 RCV001081932 RCV001130102 RCV001130804 RCV001130103 RCV001130805 RCV001130803 RCV004534872

NM_001267550.2(TTN):c.23392G>A (p.Val7798Met)

SNV
Germline

Chr2:178720250

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139034

rs_144032104

5 SubmittersRCV001130096 RCV001135128 RCV001135129 RCV001135131 RCV001135130 RCV000039989 RCV000726274

NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)

SNV
Germline

Chr2:178720104

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139042

rs_149523263

19 SubmittersRCV000039991 RCV000082372 RCV000293069 RCV000335014 RCV000352590 RCV000406710 RCV000390050 RCV000852891 RCV001082941 RCV001798135

NM_001267550.2(TTN):c.24114C>T (p.Asn8038=)

SNV
Germline

Chr2:178719276

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA139052

rs_199576800

5 SubmittersRCV000039994 RCV000726463 RCV001081081 RCV001133388 RCV001133389 RCV001134858 RCV001134859 RCV001134860

NM_001267550.2(TTN):c.24344G>A (p.Ser8115Asn)

SNV
Germline

Chr2:178718856

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA139062

rs_397517506

6 SubmittersRCV000039999 RCV000231430 RCV003137563 RCV005025092

NM_001267550.2(TTN):c.24546T>A (p.Val8182=)

SNV
Germline

Chr2:178718560

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139071

rs_397517508

2 SubmittersRCV000040005 RCV000463444

NM_001267550.2(TTN):c.24639A>C (p.Gln8213His)

SNV
Germline

Chr2:178718467

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139079

rs_397517510

5 SubmittersRCV000040008 RCV000643239 RCV001531338

NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly)

SNV
Germline

Chr2:178718454

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA231586

rs_72648980

16 SubmittersRCV000040009 RCV000118743 RCV000248593 RCV000769055 RCV001083337 RCV001134656 RCV001134657 RCV001134658 RCV001134659 RCV001134660 RCV004534873

NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)

SNV
Germline

Chr2:178718186

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
6 conditions
TTN-related disorder
Gastric cancer

Criteria Provided
Conflicting Classifications

CA139087

rs_72648981

20 SubmittersRCV000040011 RCV000082378 RCV001085022 RCV001132271 RCV001132267 RCV001132268 RCV001132269 RCV001132270 RCV001170867 RCV001787037 RCV004534874 RCV005890151

NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser)

SNV
Germline

Chr2:178717787

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139118

rs_200972189

13 SubmittersRCV000040022 RCV000118744 RCV001087646 RCV004541139

NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)

SNV
Germline

Chr2:178717244

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139128

rs_149855485

19 SubmittersRCV000040029 RCV000082380 RCV000280234 RCV000293034 RCV000333108 RCV000374655 RCV000387544 RCV000852888 RCV001082276 RCV001798137

NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn)

SNV
Germline

Chr2:178717170

Conflicting classifications of pathogenicity

6 conditions
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139137

rs_199619070

6 SubmittersRCV002496642 RCV000040031 RCV000473874 RCV000726850

NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe)

SNV
Germline

Chr2:178717115

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA139141

rs_201523784

12 SubmittersRCV000040032 RCV000172686 RCV001081212 RCV001132881 RCV001132882 RCV001136309 RCV001136308 RCV001136310 RCV003149643 RCV005054150

NM_001267550.2(TTN):c.25704G>A (p.Arg8568=)

SNV
Germline

Chr2:178715710

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139146

rs_150544093

15 SubmittersRCV000040034 RCV000266857 RCV000272529 RCV000321972 RCV000382248 RCV000376394 RCV000463917 RCV001083818 RCV001170864 RCV004534876

NM_001267550.2(TTN):c.25758C>T (p.Asp8586=)

SNV
Germline

Chr2:178715656

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139158

rs_372802604

7 SubmittersRCV000040038 RCV000290007 RCV000314787 RCV000345084 RCV000369514 RCV000393922 RCV000529441 RCV001697102 RCV003486578

NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)

SNV
Germline

Chr2:178715208

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Ventricular tachycardia
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139162

rs_141856116

22 SubmittersRCV000040041 RCV000118746 RCV000249830 RCV000268699 RCV000327425 RCV000333139 RCV000293596 RCV000382034 RCV000852887 RCV000769050 RCV001083462 RCV004528204

NM_001267550.2(TTN):c.26439C>T (p.Asn8813=)

SNV
Germline

Chr2:178714335

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139171

rs_200088963

15 SubmittersRCV000040048 RCV000226412 RCV000769047 RCV001134540 RCV001134537 RCV001134539 RCV001134536 RCV001134538 RCV001529112

NM_001267550.2(TTN):c.26466C>G (p.Ala8822=)

SNV
Germline

Chr2:178714308

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA282994

rs_140003804

16 SubmittersRCV000040050 RCV000229613 RCV000272376 RCV000321184 RCV000324738 RCV000364621 RCV000378220 RCV000769046 RCV001084999

NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met)

SNV
Germline

Chr2:178714306

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139175

rs_368151971

5 SubmittersRCV000040051 RCV000249193 RCV000643107 RCV001697103

NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)

SNV
Germline

Chr2:178714130

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Hypertrophic cardiomyopathy
TTN-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA139179

rs_72648990

13 SubmittersRCV000040052 RCV000226309 RCV000725012 RCV001293146 RCV004528205 RCV005394229

NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)

SNV
Germline

Chr2:178713986

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139188

rs_146057575

16 SubmittersRCV000040055 RCV000289133 RCV000284411 RCV000327811 RCV000333598 RCV000381135 RCV000488131 RCV001084221

NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)

SNV
Germline

Chr2:178713199

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139198

rs_376982715

14 SubmittersRCV000040061 RCV000227647 RCV000725243 RCV001170860

NM_001267550.2(TTN):c.27328+5G>A

SNV
Germline

Chr2:178712692

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139202

rs_397517521

7 SubmittersRCV000040063 RCV000209435 RCV000726292 RCV001087453 RCV001131175 RCV001131176 RCV001131177 RCV001131179 RCV001131178 RCV004534879

NM_001267550.2(TTN):c.27498G>A (p.Ser9166=)

SNV
Germline

Chr2:178712424

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139209

rs_372528823

12 SubmittersRCV000040065 RCV000300773 RCV000336995 RCV000335503 RCV000394095 RCV000405514 RCV000724437 RCV001081198 RCV001170859 RCV004534880

NM_001267550.2(TTN):c.27593A>G (p.Gln9198Arg)

SNV
Germline

Chr2:178712329

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA139213

rs_368297438

5 SubmittersRCV000040066 RCV000550845 RCV000726525 RCV001798140 RCV005025093

NM_001267550.2(TTN):c.27793A>C (p.Asn9265His)

SNV
Germline

Chr2:178712037

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139227

rs_397517524

4 SubmittersRCV000040069 RCV001131058 RCV001131059 RCV001131060 RCV001131062 RCV001131061 RCV003128574 RCV004534881

NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln)

SNV
Germline

Chr2:178711322

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139240

rs_397517527

6 SubmittersRCV000040073 RCV000730993 RCV000852884 RCV001087344

NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile)

SNV
Germline

Chr2:178711166

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA283026

rs_144930507

11 SubmittersRCV000040076 RCV000231488 RCV000291931 RCV000344859 RCV000346806 RCV000390703 RCV000404062 RCV001081637

NM_001267550.2(TTN):c.28463-14G>A

SNV
Germline

Chr2:178709870

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139256

rs_200917885

4 SubmittersRCV000040080 RCV000281900 RCV000335874 RCV000336885 RCV000371892 RCV000379633 RCV001610337 RCV002054778

NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)

SNV
Germline

Chr2:178706644

Conflicting classifications of pathogenicity

not specified
Sudden cardiac death
Cardiac arrest
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139279

rs_375266859

11 SubmittersRCV000040090 RCV000415299 RCV000530713 RCV000730819 RCV000769897 RCV001134854 RCV001134856 RCV001134853 RCV001134855 RCV001134857

NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser)

SNV
Germline

Chr2:178784240

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139287

rs_370962244

7 SubmittersRCV000040094 RCV000643692 RCV000725042

NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr)

SNV
Germline

Chr2:178704534

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139294

rs_189286381

7 SubmittersRCV000040097 RCV000172684 RCV001078743

NM_001267550.2(TTN):c.29963-13A>G

SNV
Germline

Chr2:178704420

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA283066

rs_72650008

11 SubmittersRCV000040098 RCV000282220 RCV000335038 RCV000352559 RCV000374337 RCV000403313 RCV001529310 RCV002054780

NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln)

SNV
Germline

Chr2:178704189

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139299

rs_184153985

8 SubmittersRCV000040099 RCV000468986 RCV000768894 RCV001703899 RCV004541142

NM_001267550.2(TTN):c.30231A>G (p.Pro10077=)

SNV
Germline

Chr2:178702656

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA283067

rs_74324101

11 SubmittersRCV000040101 RCV000229424 RCV001133186 RCV001133187 RCV001133188 RCV001133189 RCV001134653 RCV001531334 RCV003486579

NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)

SNV
Germline

Chr2:178702613

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139304

rs_72650011

23 SubmittersRCV000040102 RCV000143966 RCV000172683 RCV000768893 RCV000986941 RCV001081687 RCV004534882

NM_001267550.2(TTN):c.30433+11T>G

SNV
Germline

Chr2:178702443

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA283082

rs_199848546

5 SubmittersRCV000040105 RCV001129516 RCV001129518 RCV001129515 RCV001129517 RCV001136529 RCV002054781

NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)

SNV
Germline

Chr2:178702194

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139313

rs_200593368

14 SubmittersRCV000040107 RCV000253899 RCV000260855 RCV000262132 RCV000300682 RCV000353220 RCV000385979 RCV000475078 RCV000725352 RCV001170630

NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)

SNV
Germline

Chr2:178784159

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139318

rs_376768790

12 SubmittersRCV000040109 RCV000471292 RCV000620387 RCV000725605 RCV000770154 RCV001135012 RCV001135014 RCV001135013 RCV001135010 RCV001135011 RCV004534885

NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)

SNV
Germline

Chr2:178698879

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy
Cardiomyopathy
Long QT syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139329

rs_111671438

20 SubmittersRCV000040111 RCV000172682 RCV000578036 RCV000577956 RCV000578117 RCV000852879 RCV001084360 RCV001129423 RCV001129424 RCV004541143

NM_001267550.2(TTN):c.30803-15C>T

SNV
Germline

Chr2:178696284

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139338

rs_397517535

2 SubmittersRCV000040113 RCV006555373

NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)

SNV
Germline

Chr2:178784114

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA139343

rs_141961878

9 SubmittersRCV000040116 RCV000456367 RCV000725691 RCV002433509

NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile)

SNV
Germline

Chr2:178694626

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139353

rs_72650019

20 SubmittersRCV000040118 RCV000172681 RCV001079188 RCV001129209 RCV001129210 RCV001129207 RCV001129206 RCV001129208 RCV001170628

NM_001267550.2(TTN):c.31426+1G>C

SNV
Germline

Chr2:178694598

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA139358

rs_6749719

4 SubmittersRCV000040119 RCV000209261 RCV000560902 RCV005237460

NM_001267550.2(TTN):c.2776-14T>C

SNV
Germline

Chr2:178783799

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139359

rs_201611946

6 SubmittersRCV000040120 RCV001132586 RCV001132587 RCV001133513 RCV001133514 RCV001133515 RCV002054782 RCV004534886

NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)

SNV
Germline

Chr2:178692021

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139360

rs_200459347

14 SubmittersRCV000040123 RCV000725032 RCV001085078 RCV001131660 RCV001131661 RCV001131663 RCV001131662 RCV001131664 RCV001170626 RCV004534887

NM_001267550.2(TTN):c.31763-1G>A

SNV
Germline

Chr2:178689897

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Tip-toe gait
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139366

rs_202234172

13 SubmittersRCV000040125 RCV000209343 RCV000726093 RCV001080016 RCV001798142 RCV001849293 RCV003333729

NM_001267550.2(TTN):c.31806C>T (p.Pro10602=)

SNV
Germline

Chr2:178689853

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139371

rs_370080995

15 SubmittersRCV000040127 RCV000231153 RCV000293056 RCV000308421 RCV000344333 RCV000347979 RCV000387481 RCV001170625 RCV001528269 RCV004541144

NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)

SNV
Germline

Chr2:178689822

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139375

rs_200213832

12 SubmittersRCV000040128 RCV000233950 RCV000725168 RCV001134533 RCV001134534 RCV001134535 RCV001135959 RCV001135960 RCV004528207

NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)

SNV
Germline

Chr2:178688688

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder
Hypertrophic cardiomyopathy 9
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139379

rs_115119858

10 SubmittersRCV000040130 RCV000241648 RCV000474330 RCV001798143 RCV004534888 RCV004799179 RCV006449960

NM_001267550.2(TTN):c.32197+11G>A

SNV
Germline

Chr2:178688666

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA283106

rs_369265969

7 SubmittersRCV000040131 RCV001131414 RCV001131415 RCV001131416 RCV001134391 RCV001134392 RCV002054783

NM_001267550.2(TTN):c.32198-10T>C

SNV
Germline

Chr2:178688234

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139384

rs_371121439

5 SubmittersRCV000040132 RCV000868229 RCV001719765 RCV003486580

NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val)

SNV
Germline

Chr2:178684980

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139390

rs_72650030

18 SubmittersRCV000040138 RCV000082390 RCV001131295 RCV001086201 RCV001134271 RCV001134272 RCV001134273 RCV001134274 RCV003486581 RCV004534889

NM_001267550.2(TTN):c.32555-12G>T

SNV
Germline

Chr2:178684761

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139395

rs_397517540

4 SubmittersRCV000040139 RCV001131290 RCV001131291 RCV001131292 RCV001131293 RCV001131294 RCV001535406 RCV002054785

NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)

SNV
Germline

Chr2:178684747

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139397

rs_201738153

13 SubmittersRCV000040141 RCV000254304 RCV000725191 RCV001082304 RCV001130562 RCV001130563 RCV001130561 RCV001131289 RCV001131288 RCV001798144 RCV004534890

NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)

SNV
Germline

Chr2:178684680

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Supraventricular tachycardia
Brugada syndrome
Ventricular tachycardia
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA139407

rs_72650031

22 SubmittersRCV000040143 RCV000118748 RCV000245813 RCV000770067 RCV000852875 RCV001081904 RCV001134135 RCV001134137 RCV001134134 RCV001134136 RCV001134138 RCV005621859

NM_001267550.2(TTN):c.32703G>A (p.Glu10901=)

SNV
Germline

Chr2:178684349

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139412

rs_397517542

7 SubmittersRCV000040145 RCV000560344 RCV001131172 RCV001131173 RCV001131174 RCV001130451 RCV001131171 RCV001725953 RCV004541145

NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu)

SNV
Germline

Chr2:178684055

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA283129

rs_73973137

13 SubmittersRCV000040148 RCV000225853 RCV000245854 RCV000770065 RCV001130445 RCV001130444 RCV001135520 RCV001135521 RCV001135522 RCV004534893 RCV004546420

NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)

SNV
Germline

Chr2:178682738

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139426

rs_72650034

16 SubmittersRCV000040152 RCV000154080 RCV000241592 RCV000770062 RCV001085855 RCV001133885 RCV001133887 RCV001133886 RCV001133888 RCV001133889 RCV004541146

NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys)

SNV
Germline

Chr2:178682732

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139431

rs_72650035

13 SubmittersRCV000040153 RCV000244280 RCV000540453 RCV000725326 RCV000770061 RCV000852874 RCV001130927 RCV001130929 RCV001130925 RCV001130926 RCV001130928

NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)

SNV
Germline

Chr2:178682728

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA283135

rs_115744476

20 SubmittersRCV000040154 RCV000250652 RCV000845348 RCV000770060 RCV001083883 RCV001130222 RCV001130223 RCV001130922 RCV001130923 RCV001130924

NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr)

SNV
Germline

Chr2:178680256

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA139436

rs_72650040

15 SubmittersRCV000040158 RCV000172680 RCV000770057 RCV001082271 RCV001130091 RCV001130090 RCV001130092 RCV001135119 RCV001135120 RCV005621860

NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)

SNV
Germline

Chr2:178679349

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA283153

rs_190604150

15 SubmittersRCV000040160 RCV000253048 RCV000727781 RCV001081741 RCV001130650 RCV001130646 RCV001130647 RCV001130648 RCV001130649 RCV003486582 RCV004541147

NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg)

SNV
Germline

Chr2:178782904

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139441

rs_148269839

7 SubmittersRCV002433511 RCV000040162 RCV000475442 RCV000725354

NM_001267550.2(TTN):c.33827-8C>T

SNV
Germline

Chr2:178678505

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139448

rs_371318311

8 SubmittersRCV000040163 RCV000725591 RCV001088808 RCV001798145 RCV004541148

NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys)

SNV
Germline

Chr2:178678468

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139449

rs_376874956

10 SubmittersRCV000040165 RCV000261380 RCV000264717 RCV000300081 RCV000315424 RCV000353902 RCV000643124 RCV000714019 RCV001170394

NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter)

SNV
Germline

Chr2:178782872

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA261847

rs_397517547

5 SubmittersRCV000040169 RCV000754723 RCV001314678 RCV002433512 RCV005434619

NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)

SNV
Germline

Chr2:178675085

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139474

rs_140640738

19 SubmittersRCV000040174 RCV000082392 RCV000309400 RCV000315049 RCV000350143 RCV000369677 RCV000399534 RCV000852870 RCV001082919 RCV001798146

NM_001267550.2(TTN):c.34708+9G>T

SNV
Germline

Chr2:178674305

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139479

rs_397517551

6 SubmittersRCV000040175 RCV000730362 RCV001399669

NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)

SNV
Germline

Chr2:178672473

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139486

rs_202014478

20 SubmittersRCV000040179 RCV000172679 RCV000247302 RCV000769039 RCV001081699 RCV001133178 RCV001133179 RCV001132263 RCV001132265 RCV001132264 RCV004534895

NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)

SNV
Germline

Chr2:178782806

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary dilated cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139491

rs_142951505

17 SubmittersRCV000040180 RCV000154101 RCV000209217 RCV000271482 RCV000246075 RCV000366063 RCV000369218 RCV000986946 RCV001083564 RCV002227929 RCV003149645 RCV004541149

NM_001267550.2(TTN):c.35037G>A (p.Pro11679=)

SNV
Germline

Chr2:178672161

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139498

rs_369095270

7 SubmittersRCV000040182 RCV000725450 RCV000769037 RCV001087182

NM_001267550.2(TTN):c.3133G>A (p.Val1045Met)

SNV
Germline

Chr2:178782570

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA139502

rs_72647868

11 SubmittersRCV000040183 RCV000456345 RCV000714011 RCV002433513 RCV005394230

NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr)

SNV
Germline

Chr2:178671134

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139508

rs_189966800

16 SubmittersRCV000040184 RCV000246293 RCV000274824 RCV000329904 RCV000364890 RCV000370805 RCV000389983 RCV000464829 RCV000769035 RCV001293076 RCV001719766

NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser)

SNV
Germline

Chr2:178659026

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139513

rs_200992277

12 SubmittersRCV000040185 RCV000082395 RCV000852867 RCV001083903 RCV001136516 RCV001133068 RCV001133069 RCV001133070 RCV001133071

NM_001267550.2(TTN):c.39128-14T>C

SNV
Germline

Chr2:178652361

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA283182

rs_200916144

7 SubmittersRCV000040190 RCV000295213 RCV000294097 RCV000329232 RCV000383775 RCV000390094 RCV001727542 RCV002054789

NM_001267550.2(TTN):c.39211+6C>T

SNV
Germline

Chr2:178652258

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA210973

rs_187365142

16 SubmittersRCV000040193 RCV000723852 RCV000852865 RCV001085041 RCV001132960 RCV001132021 RCV001132018 RCV001132019 RCV001132020 RCV001798147

NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys)

SNV
Germline

Chr2:178651962

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139530

rs_201035457

11 SubmittersRCV000040194 RCV000228887 RCV000725460 RCV001798148

NM_001267550.2(TTN):c.39616C>T (p.Pro13206Ser)

SNV
Germline

Chr2:178651252

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139547

rs_186404793

8 SubmittersRCV000040198 RCV000285797 RCV000310247 RCV000346455 RCV000400718 RCV000400546 RCV000468407 RCV001719767 RCV003486584

NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)

SNV
Germline

Chr2:178782351

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139551

rs_55914517

20 SubmittersRCV000040201 RCV000172732 RCV000253970 RCV001085560 RCV001129772 RCV001132484 RCV001132481 RCV001132483 RCV001132482 RCV001170662 RCV004534896

NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)

SNV
Germline

Chr2:178642297

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139563

rs_201944202

20 SubmittersRCV000040205 RCV000082399 RCV000279186 RCV000294379 RCV000336318 RCV000337656 RCV000385921 RCV000620121 RCV001086509 RCV001798149 RCV004541151

NM_001267550.2(TTN):c.40587A>G (p.Glu13529=)

SNV
Germline

Chr2:178641287

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139568

rs_370597107

13 SubmittersRCV000040206 RCV000477228 RCV000619166 RCV000770042 RCV001131657 RCV001131658 RCV001131659 RCV001131656 RCV001131655 RCV001719769

NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)

SNV
Germline

Chr2:178782297

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139572

rs_368282893

10 SubmittersRCV000171326 RCV000040208 RCV000643604 RCV001134754 RCV001134751 RCV001134752 RCV001134753 RCV001134755 RCV001293182

NM_001267550.2(TTN):c.40877-14T>C

SNV
Germline

Chr2:178637433

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139578

rs_397517561

2 SubmittersRCV000040209 RCV002054792

NM_001267550.2(TTN):c.3318C>T (p.Gly1106=)

SNV
Germline

Chr2:178782274

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA139579

rs_141768043

5 SubmittersRCV000040210 RCV000461316 RCV001133303 RCV001133304 RCV001133305 RCV001133306 RCV001133302 RCV001636630 RCV002321518

NM_001267550.2(TTN):c.41103C>T (p.Gly13701=)

SNV
Germline

Chr2:178636624

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA283198

rs_72650077

20 SubmittersRCV000040213 RCV000251423 RCV000266898 RCV000312419 RCV000263483 RCV000354706 RCV000355579 RCV000465879 RCV000770040 RCV001081405

NM_001267550.2(TTN):c.33G>A (p.Pro11=)

SNV
Germline

Chr2:178804610

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139601

rs_138331646

15 SubmittersRCV000040218 RCV000283360 RCV000292016 RCV000342991 RCV000346931 RCV000396961 RCV000621623 RCV000725148 RCV000769152 RCV001086556 RCV004541152

NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg)

SNV
Germline

Chr2:178781235

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139607

rs_72647870

15 SubmittersRCV000040219 RCV000172731 RCV000250640 RCV000852941 RCV001084204 RCV001129652 RCV001129653 RCV001129654 RCV001129655 RCV001132367 RCV001798150

NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=)

SNV
Germline

Chr2:178635258

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139614

rs_369128249

11 SubmittersRCV000040220 RCV000622242 RCV000770039 RCV000868263 RCV001128759 RCV001128760 RCV001128761 RCV001128762 RCV001128763 RCV001528673

NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)

SNV
Germline

Chr2:178634452

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA139618

rs_34706299

14 SubmittersRCV000040225 RCV000172337 RCV000294831 RCV000328437 RCV000343733 RCV000383259 RCV000399696 RCV000618332 RCV001079995 RCV002225277

NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr)

SNV
Germline

Chr2:178633990

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139622

rs_369623392

7 SubmittersRCV000040226 RCV000254284 RCV000458956 RCV000726937

NM_001267550.2(TTN):c.3523G>A (p.Ala1175Thr)

SNV
Germline

Chr2:178781121

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139643

rs_397517570

3 SubmittersRCV000040232 RCV000726416 RCV001089291

NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr)

SNV
Germline

Chr2:178633254

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hypertrophic cardiomyopathy 9
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139649

rs_397517571

6 SubmittersRCV001588857 RCV002399386 RCV005051741 RCV000040234 RCV000230470

NM_001267550.2(TTN):c.43417G>C (p.Asp14473His)

SNV
Germline

Chr2:178632589

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139661

rs_397517573

6 SubmittersRCV000040237 RCV000617879 RCV000726234 RCV001087264 RCV001171014

NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)

SNV
Germline

Chr2:178632317

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA139665

rs_373491468

12 SubmittersRCV000040239 RCV000473565 RCV000724718 RCV001133884 RCV001135396 RCV001135397 RCV001135394 RCV001135395 RCV002399388

NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)

SNV
Germline

Chr2:178632204

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA139670

rs_181189778

14 SubmittersRCV000040242 RCV000463518 RCV000725048 RCV000852859 RCV001130918 RCV001130920 RCV001130919 RCV001130921 RCV001130917 RCV001171013 RCV002399389

NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter)

SNV
Germline

Chr2:178621517

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA261855

rs_397517580

6 SubmittersRCV000040256 RCV000642772 RCV000786251 RCV002408529

NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn)

SNV
Germline

Chr2:178621496

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139699

rs_17354992

20 SubmittersRCV000040257 RCV000243472 RCV000306752 RCV000271569 RCV000312455 RCV000363806 RCV000350900 RCV000407483 RCV000755420 RCV000770032 RCV001528376

NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)

SNV
Germline

Chr2:178621310

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA289089

rs_72677225

24 SubmittersRCV000040258 RCV000118755 RCV000242768 RCV000770031 RCV001084207 RCV001133292 RCV001133294 RCV001133295 RCV001133296 RCV001133293 RCV004534897

NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)

SNV
Germline

Chr2:178621219

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139704

rs_183245562

12 SubmittersRCV000040259 RCV000725531 RCV001084767 RCV002408530 RCV003149646 RCV004534898

NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)

SNV
Germline

Chr2:178621119

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder
Thyroid cancer, nonmedullary, 1
Cervical cancer

Criteria Provided
Conflicting Classifications

CA248648

rs_201057307

17 SubmittersRCV000040261 RCV000118756 RCV000282960 RCV000378515 RCV000385022 RCV000621910 RCV000767850 RCV000986939 RCV001085279 RCV003149647 RCV004541155 RCV005890165 RCV005890164

NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)

SNV
Germline

Chr2:178620456

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139717

rs_397517583

7 SubmittersRCV000040265 RCV000727270 RCV000770026 RCV001079806 RCV004541156

NM_001267550.2(TTN):c.46386C>T (p.Cys15462=)

SNV
Germline

Chr2:178620031

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA283286

rs_147703145

6 SubmittersRCV000040269 RCV000557245 RCV001133065 RCV001133061 RCV001133062 RCV001133063 RCV001133064 RCV002408533 RCV003326338

NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg)

SNV
Germline

Chr2:178620030

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139729

rs_200042932

11 SubmittersRCV000040270 RCV000643829 RCV000726230 RCV001132132 RCV001132133 RCV001132134 RCV001132131 RCV001133060 RCV002408534 RCV004534899

NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter)

SNV
Germline

Chr2:178618768

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA261864

rs_397517587

4 SubmittersRCV000209642 RCV006555374

NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser)

SNV
Germline

Chr2:178618727

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139739

rs_397517588

5 SubmittersRCV000040275 RCV000724839 RCV001078812

NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val)

SNV
Germline

Chr2:178618670

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139743

rs_115813214

11 SubmittersRCV000040276 RCV000272075 RCV000287419 RCV000322491 RCV000342339 RCV000377170 RCV000470629 RCV000617450 RCV001719770 RCV004534900

NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)

SNV
Germline

Chr2:178618267

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA139747

rs_72677231

22 SubmittersRCV000040277 RCV000206445 RCV000253777 RCV000283374 RCV000291644 RCV000343176 RCV000346585 RCV000382285 RCV000769010 RCV001081905 RCV004541157 RCV005621861

NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)

SNV
Germline

Chr2:178618036

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Atrial fibrillation
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139757

rs_72677233

21 SubmittersRCV000040280 RCV000225870 RCV000254435 RCV000308756 RCV000343876 RCV000352447 RCV000392384 RCV000404240 RCV000852855 RCV001083111 RCV001798152

NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter)

SNV
Germline

Chr2:178617845

Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA261868

rs_397517589

2 SubmittersRCV000040282 RCV001852832

NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)

SNV
Germline

Chr2:178617806

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139762

rs_146181477

20 SubmittersRCV000040283 RCV000082410 RCV000314422 RCV000299345 RCV000349511 RCV000369133 RCV000406274 RCV000619989 RCV000852853 RCV001083906 RCV001798153

NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe)

SNV
Germline

Chr2:178617348

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA283315

rs_138576504

13 SubmittersRCV000040286 RCV000227469 RCV000285222 RCV000302752 RCV000337139 RCV000342472 RCV000391758 RCV000621575 RCV000769005 RCV001085025

NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp)

SNV
Germline

Chr2:178779048

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA283320

rs_36021856

20 SubmittersRCV000040288 RCV000225777 RCV000250117 RCV000266423 RCV000288662 RCV000323811 RCV000380733 RCV000385248 RCV000769135 RCV001530088

NM_001267550.2(TTN):c.48638+5G>T

SNV
Germline

Chr2:178615302

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139791

rs_397517594

4 SubmittersRCV000040293 RCV000578677 RCV002426574 RCV002513563

NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)

SNV
Germline

Chr2:178614880

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Long QT syndrome
Tip-toe gait
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139792

rs_72677242

16 SubmittersRCV000040294 RCV000172666 RCV000244085 RCV000337051 RCV000278356 RCV000284453 RCV000335718 RCV000406708 RCV000768998 RCV001081356 RCV000852850 RCV001358658 RCV004528209

NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)

SNV
Germline

Chr2:178614561

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Tibial muscular dystrophy
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA139797

rs_72677243

16 SubmittersRCV000040295 RCV000172665 RCV000247886 RCV000655929 RCV000768997 RCV001083138 RCV001130555 RCV001131281 RCV001131282 RCV001131280

NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)

SNV
Germline

Chr2:178613870

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139810

rs_202094100

15 SubmittersRCV000040300 RCV000184581 RCV000248683 RCV000275689 RCV000317820 RCV000330719 RCV000357355 RCV000372520 RCV000560033 RCV000764335 RCV001170837 RCV004534902

NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr)

SNV
Germline

Chr2:178778883

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiomyopathy
Condition: not provided
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA139816

rs_138506461

14 SubmittersRCV000040304 RCV000232832 RCV000618058 RCV001132983 RCV001132985 RCV001132984 RCV001136418 RCV001136419 RCV001170659 RCV001537833 RCV005625238

NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)

SNV
Germline

Chr2:178612802

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139823

rs_55663050

21 SubmittersRCV000040306 RCV000082412 RCV000282058 RCV000318292 RCV000278424 RCV000376541 RCV000321923 RCV000618761 RCV000770020 RCV000852849 RCV001084198

NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr)

SNV
Germline

Chr2:178611946

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139836

rs_397517599

12 SubmittersRCV000040312 RCV000284717 RCV000288386 RCV000324575 RCV000339767 RCV000404730 RCV000539364 RCV000770017 RCV001703901 RCV002426575 RCV004541159

NM_001267550.2(TTN):c.50385T>C (p.Gly16795=)

SNV
Germline

Chr2:178611924

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139841

rs_374672630

6 SubmittersRCV000040313 RCV000254431 RCV000727126 RCV001079702 RCV001798155

NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys)

SNV
Germline

Chr2:178611857

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139845

rs_397517600

6 SubmittersRCV000040315 RCV000618209 RCV000726235 RCV001086999 RCV001170833

NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter)

SNV
Germline

Chr2:178611611

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA261872

rs_397517601

5 SubmittersRCV000040317 RCV001852833 RCV003149648 RCV005403743 RCV005630712

NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser)

SNV
Germline

Chr2:178777825

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Atrial fibrillation
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139860

rs_376857956

11 SubmittersRCV000040321 RCV000242790 RCV000544938 RCV000852938 RCV001082368 RCV001798156 RCV004534904

NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)

SNV
Germline

Chr2:178609501

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA139879

rs_200650668

17 SubmittersRCV000040327 RCV000227290 RCV000250975 RCV000279940 RCV000294783 RCV000334677 RCV000374388 RCV000389173 RCV000725456 RCV001170610

NM_001267550.2(TTN):c.52110G>A (p.Pro17370=)

SNV
Germline

Chr2:178608901

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA283403

rs_139789997

15 SubmittersRCV000040329 RCV000618342 RCV000714048 RCV001086625 RCV001134737 RCV001133291 RCV001134736 RCV001134738 RCV001133290 RCV001798157

NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly)

SNV
Germline

Chr2:178608867

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA139888

rs_397517607

7 SubmittersRCV000040330 RCV000727140 RCV001084774 RCV001798158 RCV002426576

NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn)

SNV
Germline

Chr2:178608768

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139896

rs_397517609

4 SubmittersRCV001588858 RCV000040332 RCV000642909

NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)

SNV
Germline

Chr2:178607935

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary dilated cardiomyopathy
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139904

rs_201213901

23 SubmittersRCV000040336 RCV000118765 RCV000852845 RCV001084228 RCV001129510 RCV001129511 RCV001129509 RCV001129508 RCV001136507 RCV001798159 RCV002426577 RCV004534905

NM_001267550.2(TTN):c.53002+10G>A

SNV
Germline

Chr2:178607775

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA283418

rs_370352450

7 SubmittersRCV000040339 RCV000468834 RCV001336911 RCV006445479

NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)

SNV
Germline

Chr2:178607592

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tip-toe gait
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139912

rs_72646808

17 SubmittersRCV000040340 RCV000172663 RCV000291245 RCV000315170 RCV000335069 RCV000350259 RCV000404069 RCV000618788 RCV000770012 RCV000852844 RCV001086451 RCV002221192 RCV004534906

NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)

SNV
Germline

Chr2:178607428

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139925

rs_397517612

12 SubmittersRCV000040345 RCV000276975 RCV000278213 RCV000332004 RCV000366890 RCV000372745 RCV000560612 RCV000770011 RCV001719771 RCV002426579 RCV004534907

NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys)

SNV
Germline

Chr2:178605029

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA139954

rs_55734111

16 SubmittersRCV000040353 RCV000231268 RCV000245658 RCV000770009 RCV001131774 RCV001131772 RCV001132763 RCV001131771 RCV001131773 RCV001293198 RCV001705688

NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=)

SNV
Germline

Chr2:178604988

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA283436

rs_2303834

18 SubmittersRCV000040356 RCV000465245 RCV000770008 RCV001129093 RCV001129094 RCV001136066 RCV001311249 RCV001136065 RCV001136067 RCV002453325 RCV004534908

NM_001267550.2(TTN):c.54381+6C>G

SNV
Germline

Chr2:178604702

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139979

rs_368265962

5 SubmittersRCV000040360 RCV000724174 RCV001128983 RCV001128981 RCV001131641 RCV001128980 RCV001128982 RCV004734565

NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His)

SNV
Germline

Chr2:178604197

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA139980

rs_370135374

10 SubmittersRCV000040361 RCV000228122 RCV000725242 RCV001170604 RCV002426581

NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter)

SNV
Germline

Chr2:178604051

Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA261876

rs_397517620

2 SubmittersRCV000040362 RCV003764696

NM_001267550.2(TTN):c.54685G>A (p.Val18229Met)

SNV
Germline

Chr2:178604002

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA139984

rs_116142642

9 SubmittersRCV001131522 RCV001131523 RCV001131524 RCV001131525 RCV001131526 RCV001699025 RCV002433514 RCV000040363 RCV000461813

NM_001267550.2(TTN):c.54811+15G>A

SNV
Germline

Chr2:178603861

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA139998

rs_201450276

5 SubmittersRCV000040366 RCV001134383 RCV001135848 RCV001135846 RCV001135847 RCV001135849 RCV002054794

NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)

SNV
Germline

Chr2:178602584

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139999

rs_201035511

14 SubmittersRCV000040367 RCV000172661 RCV000260976 RCV000316224 RCV000341213 RCV000375984 RCV000388261 RCV001086441 RCV001798161 RCV002433515 RCV004528210

NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)

SNV
Germline

Chr2:178602132

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA140004

rs_72646819

9 SubmittersRCV000040371 RCV000555854 RCV000726968 RCV000764327 RCV005357278

NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn)

SNV
Germline

Chr2:178602002

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140013

rs_367799017

3 SubmittersRCV000040373 RCV000797680 RCV003156220

NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr)

SNV
Germline

Chr2:178601450

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA283460

rs_146608896

12 SubmittersRCV000040375 RCV000228188 RCV000620720 RCV001085000 RCV001131279 RCV001134253 RCV001134251 RCV001134252 RCV001134254 RCV004732586

NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg)

SNV
Germline

Chr2:178601444

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140022

rs_72646823

16 SubmittersRCV000040376 RCV000172659 RCV000245388 RCV000324440 RCV000270469 RCV000290334 RCV000360425 RCV000384696 RCV001080060 RCV001170600 RCV004534910

NM_001267550.2(TTN):c.55692T>A (p.Pro18564=)

SNV
Germline

Chr2:178601305

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA140027

rs_200864020

4 SubmittersRCV000040377 RCV000724558 RCV006555375

NM_001267550.2(TTN):c.56647+1G>A

SNV
Germline

Chr2:178599145

Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA261880

rs_397517624

2 SubmittersRCV000040383 RCV001230770

NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val)

SNV
Germline

Chr2:178598768

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype
6 conditions
TTN-related disorder
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140053

rs_397517627

11 SubmittersRCV001130207 RCV001130203 RCV001130204 RCV001130205 RCV001130206 RCV001703902 RCV002433518 RCV005394231 RCV004734567 RCV000040387 RCV000768980

NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)

SNV
Germline

Chr2:178597958

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140058

rs_200001206

16 SubmittersRCV000040388 RCV000154063 RCV000456245 RCV002433519 RCV003149649

NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter)

SNV
Germline

Chr2:178597751

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA261883

rs_72646831

7 SubmittersRCV000157562 RCV000184240 RCV000223733 RCV001213420 RCV002433520

NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)

SNV
Germline

Chr2:178595768

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Ventricular tachycardia
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140071

rs_397517630

14 SubmittersRCV000040396 RCV000118768 RCV000253459 RCV000467434 RCV000852835 RCV001135097 RCV001135099 RCV001135095 RCV001135096 RCV001135098 RCV001798164

NM_001267550.2(TTN):c.57847+1G>A

SNV
Germline

Chr2:178595506

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA261888

rs_397517631

4 SubmittersRCV000040399 RCV001798166 RCV002444494 RCV006555378

NM_001267550.2(TTN):c.58122C>G (p.Thr19374=)

SNV
Germline

Chr2:178594372

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140089

rs_189818369

7 SubmittersRCV000040403 RCV000544873 RCV001129936 RCV001129932 RCV001129934 RCV001129933 RCV001129935 RCV001711155 RCV002321519

NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile)

SNV
Germline

Chr2:178593967

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140094

rs_397517636

7 SubmittersRCV000040405 RCV000184655 RCV000302892 RCV000335169 RCV000338819 RCV000396639 RCV000401844 RCV001087765 RCV002321520

NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln)

SNV
Germline

Chr2:178593664

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Cardiomyopathy
Ventricular fibrillation
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA283500

rs_201840554

14 SubmittersRCV000040407 RCV000463384 RCV000620821 RCV000770002 RCV000852834 RCV001129739 RCV001129741 RCV001129740 RCV001129742 RCV001134735 RCV006449962

NM_001267550.2(TTN):c.58982G>A (p.Gly19661Asp)

SNV
Germline

Chr2:178593226

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140115

rs_397517640

5 SubmittersRCV000040413 RCV000642907 RCV002225278 RCV004541162

NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)

SNV
Germline

Chr2:178593006

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Arrhythmogenic right ventricular dysplasia 9
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140129

rs_72646839

12 SubmittersRCV000040416 RCV000469250 RCV000491963 RCV000725816 RCV000852513 RCV002321523

NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)

SNV
Germline

Chr2:178592801

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140139

rs_371719028

10 SubmittersRCV000040419 RCV000172655 RCV001085920 RCV002321525 RCV004541163

NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)

SNV
Germline

Chr2:178592800

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA283510

rs_367622770

14 SubmittersRCV000040420 RCV000254300 RCV000284184 RCV000308595 RCV000339177 RCV000363322 RCV000399397 RCV000465101 RCV001723623 RCV001798168

NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)

SNV
Germline

Chr2:178592797

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140144

rs_188063446

17 SubmittersRCV000040421 RCV000278971 RCV000318896 RCV000342659 RCV000373508 RCV000386004 RCV000469487 RCV001530016 RCV002321526 RCV004534912

NM_001267550.2(TTN):c.59835C>T (p.Asn19945=)

SNV
Germline

Chr2:178592069

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140157

rs_72646842

11 SubmittersRCV000040425 RCV000266817 RCV000302100 RCV000305690 RCV000353482 RCV000359114 RCV000714060 RCV001086691 RCV002321527 RCV004541164

NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)

SNV
Germline

Chr2:178591814

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140165

rs_199512049

13 SubmittersRCV000040427 RCV000172654 RCV000472663 RCV000768977 RCV001132010 RCV001132952 RCV002321528 RCV004734571

NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)

SNV
Germline

Chr2:178591004

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Tip-toe gait
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140179

rs_200212521

21 SubmittersRCV000040433 RCV000172653 RCV000280109 RCV000286181 RCV000337757 RCV000343483 RCV000396846 RCV001086697 RCV001171297 RCV002222151 RCV002321530 RCV004534913

NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly)

SNV
Germline

Chr2:178776550

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA140193

rs_150725992

7 SubmittersRCV001128998 RCV001128997 RCV001135973 RCV001135975 RCV001135974 RCV001719774 RCV003335072 RCV000040436 RCV000545067

NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln)

SNV
Germline

Chr2:178590625

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140204

rs_141973925

22 SubmittersRCV000040438 RCV000233759 RCV000242716 RCV000768968 RCV001082822 RCV001136053 RCV001136054 RCV001136055 RCV001136056 RCV001136057 RCV004534914

NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)

SNV
Germline

Chr2:178590403

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140219

rs_147580753

12 SubmittersRCV000040442 RCV000118772 RCV000617338 RCV001086533 RCV004534915

NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)

SNV
Germline

Chr2:178590316

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA140224

rs_202012910

14 SubmittersRCV000040443 RCV000118773 RCV000621098 RCV000643646

NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)

SNV
Germline

Chr2:178589849

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype
Primary familial dilated cardiomyopathy
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA261891

rs_72646846

17 SubmittersRCV000184247 RCV000211745 RCV000642745 RCV000768966 RCV001537860 RCV002477121 RCV002453326 RCV003387740 RCV006555379

NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)

SNV
Germline

Chr2:178589803

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tip-toe gait
TTN-related disorder
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA140235

rs_199895260

24 SubmittersRCV000040447 RCV000172651 RCV000279995 RCV000300024 RCV000335020 RCV000378989 RCV000401779 RCV000621320 RCV000768965 RCV000852829 RCV001084857 RCV002222152 RCV004534916 RCV005890170

NM_001267550.2(TTN):c.62385C>A (p.Gly20795=)

SNV
Germline

Chr2:178589340

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA283565

rs_72646848

16 SubmittersRCV000040452 RCV000247961 RCV000545656 RCV001082861 RCV001135748 RCV001135747 RCV001135744 RCV001135745 RCV001135746 RCV001171290

NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)

SNV
Germline

Chr2:178776385

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Cardiovascular phenotype
Primary dilated cardiomyopathy
Heart failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140248

rs_141213991

21 SubmittersRCV000040454 RCV000172728 RCV000329243 RCV000617741 RCV000852935 RCV001086722 RCV001798169 RCV004528211

NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)

SNV
Germline

Chr2:178589153

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140255

rs_200689750

16 SubmittersRCV000040455 RCV000172650 RCV000246008 RCV000263771 RCV000292758 RCV000318648 RCV000317683 RCV000387122 RCV000458325 RCV003149651

NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)

SNV
Germline

Chr2:178588731

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140264

rs_375006117

15 SubmittersRCV000040457 RCV000268107 RCV000278904 RCV000323386 RCV000338583 RCV000373423 RCV000621929 RCV000726632 RCV001079539 RCV003149652

NM_001267550.2(TTN):c.63165G>A (p.Pro21055=)

SNV
Germline

Chr2:178588560

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA232501

rs_72646852

17 SubmittersRCV000040461 RCV000227404 RCV000621228 RCV000769986 RCV001079503 RCV001131027 RCV001131029 RCV001131026 RCV001131028 RCV001131030 RCV004732587

NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp)

SNV
Germline

Chr2:178588055

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA140280

rs_200726948

11 SubmittersRCV000040464 RCV000172292 RCV000248255 RCV000269467 RCV000332764 RCV000328753 RCV000367338 RCV000382596 RCV000852826 RCV001080206

NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)

SNV
Germline

Chr2:178776282

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA140284

rs_140914855

13 SubmittersRCV000040465 RCV000459694 RCV000725302 RCV001798170 RCV002345306 RCV004734572 RCV005054151

NM_001267550.2(TTN):c.63558G>A (p.Val21186=)

SNV
Germline

Chr2:178587751

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140291

rs_200261892

3 SubmittersRCV000040466 RCV002054796 RCV002453329

NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)

SNV
Germline

Chr2:178587720

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary familial hypertrophic cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA140295

rs_72646855

18 SubmittersRCV000040467 RCV000082417 RCV000143969 RCV000262231 RCV000297845 RCV000357132 RCV000312697 RCV000393151 RCV000619500 RCV000852825 RCV001086280

NM_001267550.2(TTN):c.63879C>T (p.Asp21293=)

SNV
Germline

Chr2:178587332

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140305

rs_200463088

11 SubmittersRCV000040470 RCV000245900 RCV000295521 RCV000294525 RCV000316505 RCV000334167 RCV000373573 RCV000475891 RCV001798171 RCV004534917 RCV005411309

NM_001267550.2(TTN):c.63917G>A (p.Arg21306His)

SNV
Germline

Chr2:178587294

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140309

rs_202240487

13 SubmittersRCV000040471 RCV000172287 RCV001086239 RCV001130765 RCV001130766 RCV001130768 RCV001130767 RCV001130769 RCV001170812 RCV002453331

NM_001267550.2(TTN):c.63942G>A (p.Ser21314=)

SNV
Germline

Chr2:178587269

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140314

rs_201285872

16 SubmittersRCV000040472 RCV000248175 RCV000475952 RCV001085677 RCV001130062 RCV001130063 RCV001130064 RCV001130065 RCV001135093 RCV001170811

NM_001267550.2(TTN):c.63960T>A (p.Val21320=)

SNV
Germline

Chr2:178587251

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140318

rs_397517655

11 SubmittersRCV000040473 RCV000727351 RCV000769980 RCV001081322 RCV002453332

NM_001267550.2(TTN):c.64101G>A (p.Pro21367=)

SNV
Germline

Chr2:178586800

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140326

rs_397517657

4 SubmittersRCV000040476 RCV000731919 RCV001087658 RCV002345307

NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)

SNV
Germline

Chr2:178586727

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Hypertrophic cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140336

rs_72646859

20 SubmittersRCV000040478 RCV000172649 RCV000244887 RCV001080680 RCV001129930 RCV001129931 RCV001130634 RCV001130633 RCV001130635 RCV001170810 RCV003319176 RCV004541165

NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)

SNV
Germline

Chr2:178776196

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Systolic heart failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140341

rs_146496197

14 SubmittersRCV000040480 RCV000172727 RCV000264307 RCV000299606 RCV000298490 RCV000358988 RCV000393329 RCV000852934 RCV001083255 RCV001798172 RCV002345308 RCV004534918

NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)

SNV
Germline

Chr2:178584852

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140358

rs_150661999

20 SubmittersRCV000040483 RCV000082419 RCV000620024 RCV000852822 RCV001079485 RCV001134837 RCV001134839 RCV001134836 RCV001134838 RCV001134840 RCV001798173

NM_001267550.2(TTN):c.65187G>A (p.Glu21729=)

SNV
Germline

Chr2:178584364

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140377

rs_397517660

7 SubmittersRCV000040489 RCV001170805 RCV001727544 RCV002514153 RCV004018901

NM_001267550.2(TTN):c.65276-8T>C

SNV
Germline

Chr2:178583914

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA210974

rs_377484398

5 SubmittersRCV000040491 RCV000727837 RCV001084825 RCV004541166

NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)

SNV
Germline

Chr2:178583723

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140385

rs_56130023

14 SubmittersRCV000040492 RCV000172648 RCV000289204 RCV000285866 RCV000325515 RCV000341054 RCV000383806 RCV000617230 RCV001084400 RCV001170804 RCV004534919

NM_001267550.2(TTN):c.65575+10T>C

SNV
Germline

Chr2:178583597

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA344682

rs_72646864

13 SubmittersRCV000040494 RCV000204359 RCV001133051 RCV001133050 RCV001133052 RCV001136493 RCV001136494 RCV001701487 RCV003149653 RCV004541167

NM_001267550.2(TTN):c.65604T>C (p.Ala21868=)

SNV
Germline

Chr2:178583199

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA283609

rs_200825430

14 SubmittersRCV000040495 RCV000253653 RCV000466167 RCV000768959 RCV001132125 RCV001132126 RCV001132122 RCV001132124 RCV001132123 RCV001200435 RCV004541168

NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln)

SNV
Germline

Chr2:178583056

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140394

rs_148849567

15 SubmittersRCV000040499 RCV000241625 RCV000282835 RCV000337921 RCV000341241 RCV000408381 RCV000381175 RCV000466378 RCV001170583 RCV001703903 RCV004528213

NM_001267550.2(TTN):c.65775C>T (p.Ser21925=)

SNV
Germline

Chr2:178583028

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA283624

rs_72646867

18 SubmittersRCV000040500 RCV000225958 RCV000274823 RCV000326526 RCV000329910 RCV000369611 RCV000384695 RCV000621981 RCV000768957 RCV001529138

NM_001267550.2(TTN):c.5823A>G (p.Arg1941=)

SNV
Germline

Chr2:178776041

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA283629

rs_149668487

17 SubmittersRCV000040501 RCV000643663 RCV001085536 RCV001128880 RCV001128882 RCV001128879 RCV001128881 RCV001131552 RCV001170110 RCV002345311

NM_001267550.2(TTN):c.583+5G>A

SNV
Germline

Chr2:178800390

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140399

rs_397517663

6 SubmittersRCV000040502 RCV000642802 RCV001573352

NM_001267550.2(TTN):c.66086G>A (p.Arg22029His)

SNV
Germline

Chr2:178582370

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Primary dilated cardiomyopathy
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140400

rs_72646868

10 SubmittersRCV002362633 RCV005621862 RCV000040503 RCV000460102 RCV000714070

NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)

SNV
Germline

Chr2:178581978

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140405

rs_140842479

10 SubmittersRCV000040504 RCV000184735 RCV000765558 RCV001088816 RCV002321531

NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter)

SNV
Germline

Chr2:178581650

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA261896

rs_397517664

2 SubmittersRCV000040507 RCV003764698

NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn)

SNV
Germline

Chr2:178581595

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140414

rs_72646870

9 SubmittersRCV000040508 RCV000473534 RCV000714072 RCV002371842

NM_001267550.2(TTN):c.66692G>A (p.Arg22231His)

SNV
Germline

Chr2:178581576

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Thymoma
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA210975

rs_200971254

17 SubmittersRCV000040510 RCV000459532 RCV000619559 RCV001082762 RCV001132756 RCV001132757 RCV001170580 RCV001136161 RCV001136162 RCV001136163 RCV005890171 RCV005890172

NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile)

SNV
Germline

Chr2:178580481

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140433

rs_200343420

10 SubmittersRCV000040513 RCV000266781 RCV000269962 RCV000323852 RCV000327353 RCV000384336 RCV000456180 RCV000617644 RCV001703904

NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr)

SNV
Germline

Chr2:178580462

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140437

rs_397517667

6 SubmittersRCV000040514 RCV000621653 RCV000727127 RCV001087265 RCV001170578

NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)

SNV
Germline

Chr2:178580188

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Brugada syndrome
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Tip-toe gait
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140450

rs_72646873

22 SubmittersRCV000040518 RCV000230180 RCV000260453 RCV000275767 RCV000318112 RCV000333256 RCV000368971 RCV000621791 RCV000852821 RCV001083546 RCV001170577 RCV002221193 RCV004541169

NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg)

SNV
Germline

Chr2:178580140

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140455

rs_372388682

7 SubmittersRCV001507592 RCV003989305 RCV000040519 RCV000462522 RCV000618423

NM_001267550.2(TTN):c.597A>G (p.Val199=)

SNV
Germline

Chr2:178799897

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140463

rs_144214844

7 SubmittersRCV000040522 RCV000727055 RCV001087951 RCV002354201 RCV004534920

NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)

SNV
Germline

Chr2:178775871

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
Cardiomyopathy
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA140473

rs_144135510

19 SubmittersRCV000040526 RCV000172726 RCV000243819 RCV001085386 RCV001135885 RCV001135886 RCV001135887 RCV001135884 RCV001135883 RCV002225279 RCV003149655 RCV003993766

NM_001267550.2(TTN):c.67960G>C (p.Asp22654His)

SNV
Germline

Chr2:178579070

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA140484

rs_144295295

3 SubmittersRCV000040528 RCV001134379 RCV001135840 RCV001135838 RCV001135839 RCV001135841

NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro)

SNV
Germline

Chr2:178578057

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Hypertrophic cardiomyopathy
Cardiomyopathy
6 conditions
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140519

rs_72646880

15 SubmittersRCV000040538 RCV000282806 RCV000307639 RCV000337009 RCV000342426 RCV000405692 RCV000463057 RCV000618829 RCV001093056 RCV001293209 RCV001798175 RCV001787841 RCV004534921

NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)

SNV
Germline

Chr2:178576311

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
TTN-related disorder
Brugada syndrome

Criteria Provided
Conflicting Classifications

CA140538

rs_201043950

22 SubmittersRCV000040547 RCV000251867 RCV000714083 RCV001086284 RCV001133870 RCV001133871 RCV001133872 RCV001133873 RCV001133874 RCV001798176 RCV004534922 RCV004732463

NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)

SNV
Germline

Chr2:178576229

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140543

rs_372799151

11 SubmittersRCV000040548 RCV000725637 RCV001080058 RCV001170571 RCV002326749 RCV004534923

NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile)

SNV
Germline

Chr2:178576228

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140548

rs_190421400

9 SubmittersRCV000040549 RCV000246349 RCV000726999 RCV001088941 RCV003149656

NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)

SNV
Germline

Chr2:178575640

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA140578

rs_370771532

8 SubmittersRCV001130763 RCV001130764 RCV001130762 RCV001133729 RCV001133730 RCV002326752 RCV000040556 RCV000184775 RCV000544602

NM_001267550.2(TTN):c.70677T>C (p.Asp23559=)

SNV
Germline

Chr2:178575455

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA283682

rs_72646890

19 SubmittersRCV000040559 RCV000247488 RCV000225796 RCV000768943 RCV001079505 RCV001135087 RCV001135084 RCV001135085 RCV001135086 RCV001135088 RCV004528215

NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys)

SNV
Germline

Chr2:178575384

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140591

rs_397517687

7 SubmittersRCV000040561 RCV000469845 RCV000764320 RCV001311960 RCV001798178

NM_001267550.2(TTN):c.70815G>A (p.Val23605=)

SNV
Germline

Chr2:178575317

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA283692

rs_55847238

19 SubmittersRCV000040562 RCV000273614 RCV000247125 RCV000328195 RCV000270031 RCV000362297 RCV000389086 RCV000513284 RCV000768941 RCV001082634

NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val)

SNV
Germline

Chr2:178575300

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA283702

rs_72646891

15 SubmittersRCV000040564 RCV000227732 RCV000249890 RCV000295463 RCV000337737 RCV000294398 RCV000352767 RCV000390725 RCV000768940 RCV001081336 RCV004534924

NM_001267550.2(TTN):c.70833G>A (p.Ala23611=)

SNV
Germline

Chr2:178575299

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140595

rs_377220635

9 SubmittersRCV000040565 RCV000727288 RCV001088879 RCV001134966 RCV001134967 RCV001134968 RCV001134969 RCV001134970 RCV002326754 RCV004541172

NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr)

SNV
Germline

Chr2:178775511

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Tip-toe gait
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA283707

rs_56404770

17 SubmittersRCV000040567 RCV000204975 RCV000250798 RCV000265924 RCV000285494 RCV000321007 RCV000345056 RCV000381017 RCV000770129 RCV001353375 RCV002227054 RCV004541173

NM_001267550.2(TTN):c.71373T>G (p.Leu23791=)

SNV
Germline

Chr2:178574759

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140607

rs_56245285

11 SubmittersRCV000040569 RCV000285577 RCV000284462 RCV000347647 RCV000372899 RCV000376588 RCV000732480 RCV001083091 RCV002326755

NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)

SNV
Germline

Chr2:178574530

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary familial dilated cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA261901

rs_397517689

19 SubmittersRCV000184258 RCV000208052 RCV000542963 RCV000623243 RCV000768934 RCV002326756 RCV002490565 RCV003448251 RCV003152675 RCV004734574

NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)

SNV
Germline

Chr2:178574427

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Premature ventricular contraction
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140617

rs_55837610

16 SubmittersRCV000040572 RCV000172643 RCV000252755 RCV000263162 RCV000315908 RCV000330895 RCV000370274 RCV000374141 RCV000768933 RCV001079127 RCV001781363 RCV004534925

NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile)

SNV
Germline

Chr2:178574251

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140622

rs_397517690

7 SubmittersRCV000040573 RCV000725281 RCV001088776 RCV001293079 RCV002326757

NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)

SNV
Germline

Chr2:178574000

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Tip-toe gait
TTN-related disorder
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA283729

rs_56169243

17 SubmittersRCV000040578 RCV000205454 RCV000300762 RCV000249434 RCV000355560 RCV000313330 RCV000393450 RCV000393452 RCV001081981 RCV001170340 RCV002226451 RCV004534926 RCV003993768

NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val)

SNV
Germline

Chr2:178573995

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140631

rs_146767076

14 SubmittersRCV000040579 RCV000172642 RCV001084590 RCV001133161 RCV001133158 RCV001133160 RCV001133157 RCV001133159 RCV002326758

NM_001267550.2(TTN):c.72181A>G (p.Met24061Val)

SNV
Germline

Chr2:178573951

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140640

rs_201482015

7 SubmittersRCV000040581 RCV000727728 RCV001087461 RCV002326759

NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)

SNV
Germline

Chr2:178573753

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140644

rs_149763294

12 SubmittersRCV000040582 RCV000285232 RCV000310657 RCV000334264 RCV000396450 RCV000403418 RCV000725033 RCV001083817 RCV001170337 RCV002336144 RCV004541174

NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr)

SNV
Germline

Chr2:178573950

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140649

rs_200471370

8 SubmittersRCV000040583 RCV000460260 RCV000620443 RCV000723985

NM_001267550.2(TTN):c.72488G>A (p.Arg24163His)

SNV
Germline

Chr2:178573644

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140653

rs_374712231

5 SubmittersRCV000040584 RCV000558833 RCV001703906

NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala)

SNV
Germline

Chr2:178775386

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA140658

rs_397517693

5 SubmittersRCV000040585 RCV002362634 RCV000727443 RCV000539387

NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln)

SNV
Germline

Chr2:178573350

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140664

rs_142874389

16 SubmittersRCV000040587 RCV000172641 RCV000288602 RCV000343679 RCV000349884 RCV000388861 RCV000397203 RCV001080138 RCV002336145 RCV003149657

NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)

SNV
Germline

Chr2:178573201

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140669

rs_56201325

20 SubmittersRCV000040588 RCV000118779 RCV000249950 RCV000769952 RCV001083516 RCV001131595 RCV001131997 RCV001131999 RCV001131996 RCV001131998

NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala)

SNV
Germline

Chr2:178572964

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140678

rs_182491843

17 SubmittersRCV000040590 RCV000253827 RCV000264085 RCV000322850 RCV000328591 RCV000377423 RCV000383061 RCV000474900 RCV000769950 RCV001703907

NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)

SNV
Germline

Chr2:178572307

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA140683

rs_55762754

21 SubmittersRCV000040592 RCV000247787 RCV000314072 RCV000301041 RCV000336155 RCV000367543 RCV000458685 RCV000396511 RCV000769945 RCV001083733 RCV002223143

NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)

SNV
Germline

Chr2:178571605

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Ventricular tachycardia
Primary dilated cardiomyopathy
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA140696

rs_373527654

13 SubmittersRCV000040598 RCV000534367 RCV000621675 RCV000724394 RCV000852812 RCV001293173 RCV003486596 RCV005394232

NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)

SNV
Germline

Chr2:178774998

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Ventricular tachycardia
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140701

rs_201284459

15 SubmittersRCV000040600 RCV000172466 RCV000467881 RCV000852931 RCV001131310 RCV001131307 RCV001131308 RCV001131309 RCV001131311 RCV001798179 RCV002362635

NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu)

SNV
Germline

Chr2:178571241

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140708

rs_72646899

11 SubmittersRCV000040601 RCV000288129 RCV000339683 RCV000345344 RCV000397267 RCV000397257 RCV000714090 RCV001082391 RCV002336147 RCV004541175

NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)

SNV
Germline

Chr2:178571237

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140713

rs_201512527

19 SubmittersRCV000040602 RCV000249030 RCV000471721 RCV000768930 RCV001086359 RCV001128971 RCV001128973 RCV001128972 RCV001128974 RCV001131634 RCV004534927

NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp)

SNV
Germline

Chr2:178571098

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140718

rs_368914555

12 SubmittersRCV000040605 RCV000464020 RCV001093053 RCV001134503 RCV001134502 RCV001134504 RCV001135950 RCV001171268 RCV001135951 RCV001293087 RCV002336148 RCV004534928

NM_001267550.2(TTN):c.76070G>A (p.Arg25357His)

SNV
Germline

Chr2:178570062

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140740

rs_397517703

4 SubmittersRCV000040612 RCV000467480 RCV001534450

NM_001267550.2(TTN):c.76113A>G (p.Glu25371=)

SNV
Germline

Chr2:178570019

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA283771

rs_140350441

15 SubmittersRCV000040613 RCV000233046 RCV000289871 RCV000304997 RCV000362069 RCV000397350 RCV000390049 RCV000619539 RCV000768924 RCV001082582

NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val)

SNV
Germline

Chr2:178569459

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140756

rs_201095164

10 SubmittersRCV000040618 RCV000172252 RCV000271372 RCV000303107 RCV000306562 RCV000365850 RCV000400010 RCV001085393 RCV003448252 RCV003486598 RCV004541177

NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=)

SNV
Germline

Chr2:178569410

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA283786

rs_55696153

18 SubmittersRCV000040620 RCV000234701 RCV000269503 RCV000247729 RCV000277480 RCV000313845 RCV000364093 RCV000367544 RCV000768922 RCV001081795

NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)

SNV
Germline

Chr2:178569059

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140764

rs_375398118

9 SubmittersRCV000040623 RCV000620778 RCV000714097 RCV001088371 RCV001133863 RCV001133864 RCV001133865 RCV001133866 RCV001133862

NM_001267550.2(TTN):c.77205G>A (p.Val25735=)

SNV
Germline

Chr2:178568927

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140774

rs_55857909

19 SubmittersRCV000040625 RCV000618047 RCV000714098 RCV001086724 RCV001130891 RCV001130893 RCV001130895 RCV001130892 RCV001130894 RCV003486599

NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)

SNV
Germline

Chr2:178568319

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140792

rs_186681106

15 SubmittersRCV000040631 RCV000264343 RCV000324153 RCV000359085 RCV000360289 RCV000389951 RCV000476610 RCV000768918 RCV001081320 RCV002336150 RCV004534929

NM_001267550.2(TTN):c.77816A>C (p.Asp25939Ala)

SNV
Germline

Chr2:178568316

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA140797

rs_397517712

7 SubmittersRCV000040632 RCV000526838 RCV001574137 RCV002504912

NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe)

SNV
Germline

Chr2:178568284

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA140801

rs_376814602

10 SubmittersRCV000040633 RCV000172251 RCV000768917 RCV001081540 RCV002336151 RCV005394233

NM_001267550.2(TTN):c.7061G>A (p.Arg2354His)

SNV
Germline

Chr2:178774107

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA283801

rs_75031300

16 SubmittersRCV000040635 RCV000252219 RCV000472312 RCV000770124 RCV001092342 RCV001131193 RCV001131190 RCV001131191 RCV001131192 RCV001131194

NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)

SNV
Germline

Chr2:178567240

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Premature ventricular contraction
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140814

rs_72648205

15 SubmittersRCV000040638 RCV000247997 RCV000643181 RCV000726516 RCV001134832 RCV001134833 RCV001134834 RCV001134831 RCV001134830 RCV001781364 RCV003149658 RCV004534931

NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)

SNV
Germline

Chr2:178566906

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140828

rs_72648206

15 SubmittersRCV000040642 RCV000172633 RCV000296264 RCV000348884 RCV000317619 RCV000397192 RCV000388436 RCV000467348 RCV000620048 RCV000852500 RCV005625239

NM_001267550.2(TTN):c.79319G>A (p.Arg26440His)

SNV
Germline

Chr2:178566813

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA283828

rs_56044609

18 SubmittersRCV000040645 RCV000228748 RCV000248962 RCV000769940 RCV001132349 RCV001132348 RCV001132350 RCV001132351 RCV001132352 RCV001573281 RCV004541178

NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)

SNV
Germline

Chr2:178773995

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140833

rs_374509926

6 SubmittersRCV000040646 RCV000725211 RCV001088352 RCV002362636

NM_001267550.2(TTN):c.80271C>T (p.Val26757=)

SNV
Germline

Chr2:178565861

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140848

rs_199875474

14 SubmittersRCV000040654 RCV000249905 RCV000302475 RCV000306368 RCV000342552 RCV000359525 RCV000399521 RCV000465955 RCV001170789 RCV001529926

NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser)

SNV
Germline

Chr2:178565707

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140856

rs_369941201

10 SubmittersRCV000040656 RCV000154047 RCV000242849 RCV000471525 RCV000852499

NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys)

SNV
Germline

Chr2:178565149

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140873

rs_397517719

10 SubmittersRCV000040663 RCV000617992 RCV000726121 RCV001079917 RCV001132747 RCV001132749 RCV001132748 RCV001136159 RCV001136160 RCV001798182

NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)

SNV
Germline

Chr2:178565027

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA283874

rs_72648212

15 SubmittersRCV000040665 RCV000620096 RCV000726275 RCV001080788 RCV001131747 RCV001129079 RCV001129078 RCV001131746 RCV001131748 RCV001170787

NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr)

SNV
Germline

Chr2:178564668

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140878

rs_397517720

3 SubmittersRCV000040666 RCV000524889 RCV000617267

NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter)

SNV
Germline

Chr2:178564600

Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA261909

rs_397517721

3 SubmittersRCV000040667 RCV001378905 RCV001290682

NM_001267550.2(TTN):c.81558T>C (p.Asn27186=)

SNV
Germline

Chr2:178564574

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
Hypertrophic cardiomyopathy 2

Criteria Provided
Conflicting Classifications

CA283879

rs_56181243

20 SubmittersRCV000040669 RCV000243142 RCV000289639 RCV000311788 RCV000343025 RCV000392160 RCV000401208 RCV000756835 RCV000768912 RCV001083853 RCV004528221 RCV004595900

NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)

SNV
Germline

Chr2:178564461

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140891

rs_368443217

11 SubmittersRCV001170785 RCV002345315 RCV004541180 RCV000040671 RCV000643828 RCV000727800

NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile)

SNV
Germline

Chr2:178564276

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA140895

rs_372784067

4 SubmittersRCV001697136 RCV000040673 RCV000643291

NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)

SNV
Germline

Chr2:178564233

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140899

rs_55850344

12 SubmittersRCV000040674 RCV000176835 RCV000227596 RCV000415094 RCV000619262 RCV000768910

NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly)

SNV
Germline

Chr2:178564029

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140913

rs_145373396

9 SubmittersRCV000040678 RCV000456789 RCV000619273 RCV001811298 RCV004541182

NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)

SNV
Germline

Chr2:178563912

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140918

rs_376037252

7 SubmittersRCV000040679 RCV000361272 RCV000265407 RCV000391590 RCV000300600 RCV000304128 RCV000726237 RCV002345317

NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln)

SNV
Germline

Chr2:178563730

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140922

rs_201958805

11 SubmittersRCV000040681 RCV000300172 RCV000353764 RCV000322064 RCV000357436 RCV000456607 RCV000768905 RCV000787943 RCV000997376 RCV002345318

NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg)

SNV
Germline

Chr2:178563643

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140926

rs_201158906

20 SubmittersRCV000040682 RCV000184884 RCV000620912 RCV000768904 RCV001086569 RCV001135731 RCV001135727 RCV001135728 RCV001135729 RCV001135730 RCV004534933

NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)

SNV
Germline

Chr2:178563572

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140931

rs_56264840

21 SubmittersRCV000040684 RCV000082434 RCV000280746 RCV000277428 RCV000316062 RCV000369656 RCV000373068 RCV000620318 RCV000852805 RCV001082278 RCV001798183

NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)

SNV
Germline

Chr2:178563441

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140936

rs_55634791

17 SubmittersRCV000040686 RCV000267329 RCV000302688 RCV000327142 RCV000362027 RCV000363058 RCV000724925 RCV001427304 RCV001798184 RCV002345320

NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly)

SNV
Germline

Chr2:178562961

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA140941

rs_201896662

11 SubmittersRCV000040691 RCV000172628 RCV000252102 RCV000476606 RCV001130325 RCV001130327 RCV001130324 RCV001130326 RCV001130323 RCV001170783

NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)

SNV
Germline

Chr2:178562851

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140946

rs_371788070

14 SubmittersRCV000040692 RCV000171313 RCV000466706 RCV000769925 RCV001330312 RCV002345321 RCV004734575

NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)

SNV
Germline

Chr2:178562833

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140951

rs_184643087

10 SubmittersRCV000040693 RCV000725532 RCV001087252 RCV002345322 RCV003149659 RCV004534934

NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)

SNV
Germline

Chr2:178562514

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140964

rs_200775919

11 SubmittersRCV000040697 RCV000172229 RCV000283706 RCV000320147 RCV000341923 RCV000380228 RCV000372050 RCV000559104 RCV000620676 RCV000764310 RCV004541183

NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr)

SNV
Germline

Chr2:178562262

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Brugada syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140968

rs_148067743

7 SubmittersRCV000040699 RCV000335686 RCV000293712 RCV000336932 RCV000375171 RCV000392066 RCV000475754 RCV000727431 RCV000852498 RCV002345323

NM_001267550.2(TTN):c.7619G>A (p.Arg2540His)

SNV
Germline

Chr2:178773345

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA140973

rs_397517725

8 SubmittersRCV000040700 RCV000172460 RCV000242133 RCV000287099 RCV000309186 RCV000347654 RCV000339655 RCV000403204 RCV000463035

NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)

SNV
Germline

Chr2:178561869

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA140979

rs_200450022

15 SubmittersRCV000040701 RCV000172224 RCV001084560 RCV001130623 RCV001130624 RCV001130625 RCV001130627 RCV001130626 RCV002345324 RCV003149660 RCV004734576

NM_001267550.2(TTN):c.84448T>C (p.Tyr28150His)

SNV
Germline

Chr2:178561684

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA140988

rs_397517727

5 SubmittersRCV000040704 RCV000907241 RCV001798185 RCV003137570

NM_001267550.2(TTN):c.84553C>T (p.Arg28185Ter)

SNV
Germline

Chr2:178561579

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary familial dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141001

rs_397517729

5 SubmittersRCV000040708 RCV004819212 RCV005222726 RCV004991995 RCV005237461

NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp)

SNV
Germline

Chr2:178561436

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141005

rs_397517730

5 SubmittersRCV000040709 RCV000274794 RCV000318173 RCV000332698 RCV000375092 RCV000387249 RCV000726293 RCV001087454 RCV002345326

NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)

SNV
Germline

Chr2:178561209

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Congestive heart failure
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA141009

rs_201674674

16 SubmittersRCV000040710 RCV000176789 RCV000531860 RCV000852801 RCV002354203 RCV005025095

NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln)

SNV
Germline

Chr2:178561155

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141014

rs_200843338

15 SubmittersRCV000040711 RCV000247193 RCV000305618 RCV000335949 RCV000341787 RCV000391984 RCV000406632 RCV000477567 RCV000726282 RCV001170551

NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr)

SNV
Germline

Chr2:178561092

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141018

rs_397517731

7 SubmittersRCV001798186 RCV002354204 RCV000040712 RCV000227162 RCV000724198

NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys)

SNV
Germline

Chr2:178560726

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141026

rs_202040332

9 SubmittersRCV000040715 RCV000769914 RCV001080928 RCV001134724 RCV001134725 RCV001134726 RCV001134727 RCV001134723 RCV002354205 RCV003883486

NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr)

SNV
Germline

Chr2:178560153

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA141043

rs_397517733

4 SubmittersRCV002354207 RCV003137571 RCV000040719 RCV000643724

NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile)

SNV
Germline

Chr2:178559661

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141051

rs_200709344

9 SubmittersRCV000232855 RCV000040723 RCV000768877 RCV000997368 RCV002354208

NM_001267550.2(TTN):c.86526T>G (p.Val28842=)

SNV
Germline

Chr2:178559606

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141055

rs_72648226

12 SubmittersRCV000040724 RCV000724569 RCV001081370 RCV001129501 RCV001129502 RCV001129503 RCV001129500 RCV001129499 RCV001798187 RCV002354209 RCV004541184

NM_001267550.2(TTN):c.86683G>A (p.Val28895Met)

SNV
Germline

Chr2:178559449

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141059

rs_201290358

11 SubmittersRCV000040725 RCV000172219 RCV000291684 RCV000307010 RCV000346476 RCV000393775 RCV000402859 RCV001081280 RCV001170545 RCV002354210

NM_001267550.2(TTN):c.86821+2T>A

SNV
Germline

Chr2:178559309

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G
TTN-related disorder
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA261913

rs_397517735

14 SubmittersRCV000040727 RCV000184278 RCV000627778 RCV000768876 RCV002354211 RCV002490567 RCV003389235 RCV004541185 RCV005055544

NM_001267550.2(TTN):c.86910C>T (p.Gly28970=)

SNV
Germline

Chr2:178558549

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141064

rs_397517736

5 SubmittersRCV000040728 RCV000727331 RCV001490570 RCV002354212

NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=)

SNV
Germline

Chr2:178558009

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141075

rs_369444690

4 SubmittersRCV000040731 RCV000727242 RCV001078979 RCV003162349

NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg)

SNV
Germline

Chr2:178557987

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141079

rs_375198596

9 SubmittersRCV000040732 RCV000643680 RCV000725253 RCV001798188 RCV002354213

NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)

SNV
Germline

Chr2:178557942

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Primary dilated cardiomyopathy
Cardiomyopathy
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA141084

rs_72648227

21 SubmittersRCV000040733 RCV000172625 RCV000618830 RCV001086492 RCV001129292 RCV001129291 RCV001131993 RCV001131994 RCV001131995 RCV001293177 RCV001798189 RCV002227443

NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)

SNV
Germline

Chr2:178557731

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141089

rs_201831707

11 SubmittersRCV000040734 RCV000225888 RCV000244493 RCV000726191 RCV001136274 RCV001129285 RCV001136271 RCV001136272 RCV001136273 RCV001798190

NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)

SNV
Germline

Chr2:178557454

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141102

rs_141624266

20 SubmittersRCV000040738 RCV000118785 RCV000307938 RCV000313315 RCV000370289 RCV000397868 RCV000403035 RCV001080518 RCV001170318 RCV002354214

NM_001267550.2(TTN):c.88028G>A (p.Arg29343His)

SNV
Germline

Chr2:178557126

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141113

rs_73036368

10 SubmittersRCV000040741 RCV000118786 RCV000476079 RCV001798191 RCV002354215

NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser)

SNV
Germline

Chr2:178557064

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141118

rs_183013408

11 SubmittersRCV000040742 RCV000270510 RCV000327903 RCV000334082 RCV000362829 RCV000384731 RCV000475243 RCV000618175 RCV000725444 RCV001798192

NM_001267550.2(TTN):c.88183T>C (p.Phe29395Leu)

SNV
Germline

Chr2:178556971

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA141123

rs_55940667

5 SubmittersRCV000040743 RCV000172214 RCV000245043 RCV001086668

NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)

SNV
Germline

Chr2:178555065

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Hypertrophic cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA141128

rs_146181116

23 SubmittersRCV000040746 RCV000242549 RCV000262196 RCV000266709 RCV000319678 RCV000354841 RCV000367586 RCV000471049 RCV000768870 RCV000852799 RCV001081488

NM_001267550.2(TTN):c.88459G>A (p.Val29487Met)

SNV
Germline

Chr2:178555000

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141137

rs_200899806

13 SubmittersRCV000040748 RCV000723789 RCV001084841 RCV001170314 RCV001132651 RCV001132652 RCV001132653 RCV001132654 RCV001132655 RCV002354217 RCV004534935

NM_001267550.2(TTN):c.88485C>T (p.Leu29495=)

SNV
Germline

Chr2:178554974

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141142

rs_371612136

14 SubmittersRCV000040750 RCV000535039 RCV000618466 RCV000768869 RCV001131625 RCV001131626 RCV001131627 RCV001131628 RCV001132650 RCV001796719 RCV004541188

NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)

SNV
Germline

Chr2:178554626

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141150

rs_111727915

12 SubmittersRCV000040752 RCV000282040 RCV000348715 RCV000352269 RCV000374104 RCV000386956 RCV000725034 RCV001085079 RCV001170313 RCV002354219 RCV004534937

NM_001267550.2(TTN):c.89136C>T (p.Asn29712=)

SNV
Germline

Chr2:178553975

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141155

rs_376289479

9 SubmittersRCV000040754 RCV000867974 RCV001134365 RCV001134366 RCV001134364 RCV001135832 RCV001135831 RCV001703911 RCV002354220 RCV004541189

NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)

SNV
Germline

Chr2:178553579

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141163

rs_72648238

18 SubmittersRCV000040758 RCV000172208 RCV001082145 RCV001134225 RCV001134226 RCV001134228 RCV001134227 RCV001134229 RCV001798193 RCV002362637 RCV004734578

NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)

SNV
Germline

Chr2:178552953

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
EBV-positive nodal T- and NK-cell lymphoma

Criteria Provided
Conflicting Classifications

CA141176

rs_397517746

9 SubmittersRCV000040762 RCV000458878 RCV000733290 RCV002362639 RCV003147329 RCV004558291

NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)

SNV
Germline

Chr2:178552364

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141188

rs_149567378

21 SubmittersRCV000040766 RCV000082444 RCV000269727 RCV000320246 RCV000310741 RCV000364179 RCV000365525 RCV000617583 RCV000852796 RCV001083905 RCV001798194

NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)

SNV
Germline

Chr2:178552276

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA141193

rs_370479059

13 SubmittersRCV000040768 RCV000251412 RCV000727784 RCV000769888 RCV001083455

NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)

SNV
Germline

Chr2:178552074

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA141197

rs_150430592

21 SubmittersRCV000040770 RCV000082445 RCV000278620 RCV000327591 RCV000286969 RCV000373393 RCV000376846 RCV000618823 RCV000852794 RCV001083184 RCV001798195 RCV003993769

NM_001267550.2(TTN):c.91347T>C (p.Asp30449=)

SNV
Germline

Chr2:178551184

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA284025

rs_193022702

18 SubmittersRCV000040776 RCV000234492 RCV000769884 RCV001085113 RCV001133860 RCV001133859 RCV001133861 RCV001133857 RCV001133858 RCV002362641

NM_001267550.2(TTN):c.91425C>T (p.Asp30475=)

SNV
Germline

Chr2:178551106

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141214

rs_145133144

12 SubmittersRCV000040777 RCV000726356 RCV001088287 RCV001130186 RCV001130882 RCV001130184 RCV001130183 RCV001130185 RCV002362642 RCV004541190

NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)

SNV
Germline

Chr2:178550237

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141227

rs_182549226

11 SubmittersRCV000040781 RCV000294400 RCV000347053 RCV000359863 RCV000307351 RCV000403395 RCV000723853 RCV001081378 RCV002362643 RCV003149661 RCV004541191

NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg)

SNV
Germline

Chr2:178550217

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Distal myopathy

Criteria Provided
Conflicting Classifications

CA141232

rs_200854704

11 SubmittersRCV000040782 RCV000172620 RCV000282263 RCV000316301 RCV000295443 RCV000352604 RCV000373589 RCV000457779 RCV002362644 RCV005625240

NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)

SNV
Germline

Chr2:178550073

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141236

rs_148617456

20 SubmittersRCV000040783 RCV000082447 RCV000621123 RCV000852791 RCV001082275 RCV001130053 RCV001135074 RCV001135075 RCV001135076 RCV001135077 RCV001798197

NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp)

SNV
Germline

Chr2:178549680

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA141246

rs_201400267

12 SubmittersRCV000040787 RCV000172200 RCV000472772 RCV001134952 RCV001134953 RCV001134955 RCV001134954 RCV001134956 RCV003486607 RCV002354221 RCV005394234

NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)

SNV
Germline

Chr2:178549450

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Supraventricular tachycardia
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Tip-toe gait
TTN-related myopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141251

rs_72648247

23 SubmittersRCV000040789 RCV000082448 RCV000247505 RCV000290790 RCV000852789 RCV001083918 RCV001132527 RCV001132528 RCV001798198 RCV002227930 RCV003993770 RCV004534939

NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg)

SNV
Germline

Chr2:178549293

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141256

rs_201019681

9 SubmittersRCV000040791 RCV000643343 RCV000726970 RCV001129835 RCV001129836 RCV001129837 RCV001129838 RCV001129839 RCV002362645 RCV003486608

NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp)

SNV
Germline

Chr2:178549175

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA141261

rs_397517755

9 SubmittersRCV001698952 RCV002362646 RCV000040793 RCV000226810

NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala)

SNV
Germline

Chr2:178549089

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141265

rs_77968867

17 SubmittersRCV000040794 RCV000714120 RCV000768860 RCV000852788 RCV001082181 RCV001129729 RCV001132436 RCV001132437 RCV001132438 RCV001132439 RCV002362647

NM_001267550.2(TTN):c.92782G>C (p.Asp30928His)

SNV
Germline

Chr2:178548844

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA141274

rs_397517756

10 SubmittersRCV000040797 RCV000464223 RCV000726117 RCV002362648 RCV005394235

NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu)

SNV
Germline

Chr2:178548259

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141278

rs_202096200

8 SubmittersRCV000040800 RCV000172195 RCV001087420 RCV002371845

NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)

SNV
Germline

Chr2:178547726

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA284075

rs_200173934

18 SubmittersRCV000040805 RCV000233211 RCV000295092 RCV000350053 RCV000345296 RCV000389462 RCV000396326 RCV000622010 RCV000768857 RCV001086039

NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)

SNV
Germline

Chr2:178546805

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA284085

rs_376539252

12 SubmittersRCV000040810 RCV000328211 RCV000332146 RCV000288131 RCV000367671 RCV000382848 RCV000768855 RCV000726857 RCV001085173 RCV002362653

NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met)

SNV
Germline

Chr2:178546799

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA141305

rs_397517759

5 SubmittersRCV000040811 RCV000247537 RCV000277148 RCV000298221 RCV000356392 RCV000353169 RCV000390504 RCV004786313

NM_001267550.2(TTN):c.94846C>T (p.Leu31616=)

SNV
Germline

Chr2:178546485

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA284090

rs_72648255

19 SubmittersRCV000040813 RCV000228324 RCV000290312 RCV000341684 RCV000402372 RCV000345101 RCV000397865 RCV000621726 RCV001086327 RCV001171238

NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu)

SNV
Germline

Chr2:178546480

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141313

rs_72648256

16 SubmittersRCV000040814 RCV000252550 RCV000513556 RCV000768854 RCV001082680 RCV001131865 RCV001132851 RCV001131864 RCV001131866 RCV001131867 RCV004534941

NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp)

SNV
Germline

Chr2:178546253

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA141318

rs_2288326

6 SubmittersRCV000040817 RCV000172188 RCV000268106 RCV000272165 RCV000325497 RCV000360898 RCV000382966 RCV001083436

NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys)

SNV
Germline

Chr2:178545994

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141327

rs_142525903

13 SubmittersRCV000040821 RCV000172617 RCV000620427 RCV001079500 RCV001131616 RCV001131617 RCV001131618 RCV001131620 RCV001131619 RCV001170761 RCV004534943

NM_001267550.2(TTN):c.95244C>T (p.Arg31748=)

SNV
Germline

Chr2:178545992

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
TTN-related disorder
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA284115

rs_368243641

12 SubmittersRCV000040822 RCV000244797 RCV000467863 RCV001128957 RCV001131613 RCV001128956 RCV001131614 RCV001131615 RCV001529974 RCV004534944 RCV005890216

NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)

SNV
Germline

Chr2:178545939

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141332

rs_191484894

21 SubmittersRCV000040824 RCV000082453 RCV000620998 RCV000852787 RCV001082921 RCV001134487 RCV001135944 RCV001135945 RCV001135946 RCV001135947 RCV001798200

NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)

SNV
Germline

Chr2:178545457

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Cardiomyopathy
Ventricular fibrillation
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141349

rs_72648263

20 SubmittersRCV000040830 RCV000172615 RCV000270075 RCV000292373 RCV000327509 RCV000349608 RCV000380825 RCV000621105 RCV000769875 RCV000852785 RCV001085084 RCV004534945

NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)

SNV
Germline

Chr2:178544004

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA141358

rs_375640847

8 SubmittersRCV000040833 RCV000643737 RCV000725040 RCV000764305

NM_001267550.2(TTN):c.8843C>T (p.Ser2948Leu)

SNV
Germline

Chr2:178769738

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141363

rs_397517763

7 SubmittersRCV000040834 RCV000185204 RCV000226116 RCV001170097 RCV002371846

NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)

SNV
Germline

Chr2:178543910

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA141370

rs_376532382

11 SubmittersRCV000040836 RCV000286881 RCV000281420 RCV000341232 RCV000341884 RCV000390449 RCV000619267 RCV000724899 RCV001086828

NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)

SNV
Germline

Chr2:178543892

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA141374

rs_369626133

11 SubmittersRCV000040837 RCV000272185 RCV000307689 RCV000327286 RCV000362345 RCV000367993 RCV000621254 RCV000724900 RCV001086829

NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr)

SNV
Germline

Chr2:178543858

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141378

rs_376039623

8 SubmittersRCV000040838 RCV000767014 RCV000643268 RCV002504916 RCV004018903 RCV004734579

NM_001267550.2(TTN):c.96904+4T>C

SNV
Germline

Chr2:178543065

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Skeletal dysplasia

Criteria Provided
Conflicting Classifications

CA141383

rs_373514079

12 SubmittersRCV000040841 RCV000415660 RCV000415631 RCV000727795 RCV000537275 RCV001133976 RCV001135491 RCV001133977 RCV001135492 RCV002371847 RCV005625241

NM_001267550.2(TTN):c.96918C>T (p.Ile32306=)

SNV
Germline

Chr2:178542936

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141384

rs_72648266

14 SubmittersRCV000040842 RCV000466836 RCV001133972 RCV001133973 RCV001133974 RCV001133971 RCV001133975 RCV001170753 RCV001528947 RCV002371848

NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr)

SNV
Germline

Chr2:178768898

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141401

rs_72647885

17 SubmittersRCV000040847 RCV000082457 RCV001084542 RCV001133642 RCV001133644 RCV001133643 RCV001133640 RCV001133641 RCV002444495 RCV003486612 RCV004534948

NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)

SNV
Germline

Chr2:178542755

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141408

rs_202064385

16 SubmittersRCV000040848 RCV000185032 RCV000242748 RCV001085595 RCV001130310 RCV001135351 RCV001135352 RCV001135353 RCV001135354 RCV001798203

NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)

SNV
Germline

Chr2:178542499

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141421

rs_373206096

14 SubmittersRCV000040851 RCV000185035 RCV001082096 RCV001130874 RCV001130875 RCV001130877 RCV001130876 RCV001130878 RCV002371849 RCV004734580

NM_001267550.2(TTN):c.97418G>A (p.Arg32473His)

SNV
Germline

Chr2:178542338

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA141434

rs_397517770

5 SubmittersRCV000040854 RCV000726674 RCV001088882

NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val)

SNV
Germline

Chr2:178541335

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141439

rs_397517771

5 SubmittersRCV000040856 RCV000266897 RCV000297925 RCV000324467 RCV000354697 RCV000407527 RCV000726291 RCV001088537 RCV002362658

NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)

SNV
Germline

Chr2:178541317

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141448

rs_55704830

16 SubmittersRCV000040858 RCV000172611 RCV000248871 RCV000282930 RCV000291082 RCV000322814 RCV000383122 RCV000379720 RCV000769863 RCV001086482 RCV001293119

NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val)

SNV
Germline

Chr2:178540307

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141453

rs_397517772

9 SubmittersRCV000040860 RCV000277556 RCV000303221 RCV000308086 RCV000369817 RCV000393698 RCV000619770 RCV000861079 RCV001575156 RCV003149662

NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)

SNV
Germline

Chr2:178539823

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

CA141465

rs_72648272

23 SubmittersRCV000040865 RCV000172610 RCV000298721 RCV000338814 RCV000341836 RCV000387355 RCV000401107 RCV000620090 RCV000768849 RCV001081784 RCV004534949 RCV005890217

NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)

SNV
Germline

Chr2:178539771

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tip-toe gait
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141474

rs_72648273

27 SubmittersRCV000040867 RCV000118794 RCV000248345 RCV000260558 RCV000264048 RCV000322722 RCV000321435 RCV000354955 RCV000361061 RCV000768847 RCV001079943 RCV002222153 RCV004534950

NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)

SNV
Germline

Chr2:178539675

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Long QT syndrome
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA284164

rs_149001703

23 SubmittersRCV000040869 RCV000419770 RCV000621374 RCV000768846 RCV000852783 RCV001082901 RCV001129725 RCV001132433 RCV001129726 RCV001132434 RCV001132435

NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile)

SNV
Germline

Chr2:178768759

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141480

rs_11900987

19 SubmittersRCV000040871 RCV000457548 RCV000618556 RCV000769105 RCV001130675 RCV001130677 RCV001130674 RCV001130676 RCV001130678 RCV001293102 RCV001703913 RCV004534951

NM_001267550.2(TTN):c.98683+7G>C

SNV
Germline

Chr2:178539375

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141487

rs_141150066

10 SubmittersRCV000040874 RCV000542024 RCV001129594 RCV001129595 RCV001129596 RCV001134625 RCV001134626 RCV001529114

NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala)

SNV
Germline

Chr2:178539209

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Intellectual disability

Criteria Provided
Conflicting Classifications

CA141489

rs_368877793

15 SubmittersRCV000040877 RCV000525675 RCV000725120 RCV000622118 RCV001170525 RCV005621863

NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu)

SNV
Germline

Chr2:178539126

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141494

rs_200544701

8 SubmittersRCV000040878 RCV000864110 RCV001132220 RCV001132222 RCV001132224 RCV001132221 RCV001132223 RCV001561054 RCV003486614 RCV004541194

NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr)

SNV
Germline

Chr2:178538798

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA284189

rs_78814506

12 SubmittersRCV000040880 RCV000226010 RCV000246674 RCV001080938 RCV001129391 RCV001132108 RCV001132109 RCV001132110 RCV001132107 RCV001170523

NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)

SNV
Germline

Chr2:178537867

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141509

rs_371656672

14 SubmittersRCV000040885 RCV000725601 RCV001079868 RCV001798206 RCV002371851

NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln)

SNV
Germline

Chr2:178537773

Conflicting classifications of pathogenicity

Cardiomyopathy
Hypertrophic cardiomyopathy 9
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141513

rs_371531675

7 SubmittersRCV003149663 RCV005051744 RCV000040886 RCV000226662 RCV000725376

NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)

SNV
Germline

Chr2:178537208

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141530

rs_72648278

14 SubmittersRCV000040890 RCV000206544 RCV000242155 RCV000301140 RCV000297253 RCV000354426 RCV000367561 RCV000390707 RCV000390934 RCV000725311 RCV001798207 RCV004534953

NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)

SNV
Germline

Chr2:178537118

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
See cases
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA141535

rs_56061641

17 SubmittersRCV000040891 RCV000242557 RCV000487595 RCV000549681 RCV001131862 RCV001196003 RCV001131859 RCV001131863 RCV001131860 RCV001131861

NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro)

SNV
Germline

Chr2:178768029

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141544

rs_373366126

6 SubmittersRCV000040899 RCV000468674 RCV001133509 RCV001133511 RCV001133512 RCV001133510 RCV001135007 RCV001703915

NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)

SNV
Germline

Chr2:178535403

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Atrial fibrillation
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA231615

rs_56273463

23 SubmittersRCV000040902 RCV000118798 RCV000251517 RCV000299708 RCV000334610 RCV000349947 RCV000404458 RCV000407040 RCV000852781 RCV001083282 RCV001170520 RCV003993771

NM_001267550.2(TTN):c.101245G>A (p.Val33749Met)

SNV
Germline

Chr2:178535370

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA141552

rs_201554140

15 SubmittersRCV000040903 RCV000226035 RCV000620304 RCV001081693 RCV001128953 RCV001128955 RCV001128954 RCV001131611 RCV001131612 RCV001170519 RCV005625242

NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)

SNV
Germline

Chr2:178767871

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Atrial fibrillation
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA141561

rs_72647894

18 SubmittersRCV000040905 RCV000082466 RCV000247307 RCV000282222 RCV000286768 RCV000317271 RCV000341793 RCV000371851 RCV000769103 RCV000852925 RCV001084199 RCV004534955 RCV005890222

NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)

SNV
Germline

Chr2:178534950

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy
Supraventricular tachycardia
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA231620

rs_34924609

23 SubmittersRCV000040908 RCV000246329 RCV000769857 RCV000713950 RCV000852780 RCV001079468 RCV001131495 RCV001131492 RCV001131493 RCV001131494 RCV001134484 RCV002227931

NM_001267550.2(TTN):c.101766G>C (p.Gln33922His)

SNV
Germline

Chr2:178534849

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Cardiomyopathy
Ventricular tachycardia
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA284242

rs_55886356

17 SubmittersRCV000040910 RCV000233206 RCV000289503 RCV000245404 RCV000388677 RCV000344458 RCV000341092 RCV000393835 RCV000769856 RCV000852779 RCV001085578

NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)

SNV
Germline

Chr2:178534724

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141574

rs_55669553

22 SubmittersRCV000040912 RCV000082468 RCV000621955 RCV000852778 RCV001131352 RCV001131354 RCV001082939 RCV001131353 RCV001131350 RCV001131351 RCV001798210

NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn)

SNV
Germline

Chr2:178534512

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141584

rs_144963736

18 SubmittersRCV000040914 RCV000713952 RCV000769853 RCV000852777 RCV001084745 RCV001128724 RCV001128725 RCV001128726 RCV001128723 RCV001135717 RCV002390171

NM_001267550.2(TTN):c.102156G>T (p.Arg34052=)

SNV
Germline

Chr2:178534459

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141589

rs_376894729

8 SubmittersRCV000040915 RCV000306383 RCV000350714 RCV000349889 RCV000403010 RCV000407697 RCV000862227 RCV001535414 RCV002390172

NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)

SNV
Germline

Chr2:178534425

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA141593

rs_200237973

11 SubmittersRCV000040916 RCV000172607 RCV000246004 RCV000280823 RCV000279530 RCV000316166 RCV000378875 RCV000375400 RCV000466398

NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr)

SNV
Germline

Chr2:178534187

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA141597

rs_397517786

8 SubmittersRCV002390173 RCV000040918 RCV000172161 RCV000542073

NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)

SNV
Germline

Chr2:178766597

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141602

rs_140664731

11 SubmittersRCV000040920 RCV000786253 RCV001088345 RCV002371852 RCV004534956

NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)

SNV
Germline

Chr2:178534020

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA141609

rs_56347248

21 SubmittersRCV000040921 RCV000082470 RCV000622061 RCV000852775 RCV001080039 RCV001130525 RCV001130527 RCV001130524 RCV001130526 RCV001130528

NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)

SNV
Germline

Chr2:178533878

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141618

rs_372716177

10 SubmittersRCV000040923 RCV000462618 RCV001293170 RCV001703916 RCV002390174 RCV003149664

NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)

SNV
Germline

Chr2:178533738

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Arrhythmogenic right ventricular dysplasia 9
Cardiomyopathy
Hypertrophic cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
TTN-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA141622

rs_72629783

19 SubmittersRCV000040925 RCV000172604 RCV000465722 RCV000491304 RCV000769849 RCV001293056 RCV001333490 RCV002390175 RCV004734584 RCV005394236

NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)

SNV
Germline

Chr2:178533323

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141626

rs_192001910

13 SubmittersRCV000040927 RCV000619030 RCV000725429 RCV001082764 RCV001135484 RCV001135485 RCV001135486 RCV001135487 RCV001135488 RCV001170292

NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys)

SNV
Germline

Chr2:178533252

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141631

rs_72629785

16 SubmittersRCV000040928 RCV000710275 RCV000768834 RCV001081893 RCV001133969 RCV001133967 RCV001133968 RCV001133970 RCV001135483 RCV002390176

NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)

SNV
Germline

Chr2:178532927

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141643

rs_55945684

14 SubmittersRCV000040931 RCV000245149 RCV000264463 RCV000263262 RCV000322000 RCV000316083 RCV000355491 RCV000361393 RCV000725310 RCV001083917 RCV001798211 RCV004534957

NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln)

SNV
Germline

Chr2:178532669

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA141648

rs_397517788

5 SubmittersRCV001170290 RCV001576785 RCV000040933 RCV000475599

NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)

SNV
Germline

Chr2:178532641

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA284281

rs_199714102

19 SubmittersRCV000040934 RCV000246198 RCV000312978 RCV000273242 RCV000371402 RCV000314269 RCV000365348 RCV000463236 RCV001529975 RCV001798212 RCV004528224

NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)

SNV
Germline

Chr2:178532364

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141656

rs_185683410

17 SubmittersRCV000040936 RCV000082473 RCV000241855 RCV000768829 RCV001084033 RCV001135205 RCV001135202 RCV001135203 RCV001135204 RCV001135206 RCV004541196

NM_001267550.2(TTN):c.104364C>T (p.Ser34788=)

SNV
Germline

Chr2:178532251

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA141661

rs_181679744

11 SubmittersRCV000040937 RCV000725850 RCV001087200 RCV001798213 RCV002399391 RCV005890223

NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys)

SNV
Germline

Chr2:178532250

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141665

rs_190565627

13 SubmittersRCV000040938 RCV000291584 RCV000292859 RCV000344090 RCV000350073 RCV000388022 RCV000474765 RCV000618932 RCV001703917 RCV004537120

NM_001267550.2(TTN):c.104385G>A (p.Lys34795=)

SNV
Germline

Chr2:178532230

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141670

rs_397517790

6 SubmittersRCV000040940 RCV002399392 RCV002513571 RCV006445482

NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser)

SNV
Germline

Chr2:178766410

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141678

rs_202011992

10 SubmittersRCV002371853 RCV000040942 RCV000172455 RCV000544021 RCV000769101

NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)

SNV
Germline

Chr2:178532055

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA289122

rs_55866005

25 SubmittersRCV000040943 RCV000118804 RCV000250530 RCV000768826 RCV001080684 RCV001135062 RCV001135064 RCV001135063 RCV001135065 RCV001135061 RCV004528225

NM_001267550.2(TTN):c.104769A>C (p.Thr34923=)

SNV
Germline

Chr2:178531846

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA284296

rs_56375087

19 SubmittersRCV000040946 RCV000233825 RCV000245559 RCV000272409 RCV000312358 RCV000328153 RCV000364115 RCV000366919 RCV000768825 RCV001529921

NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)

SNV
Germline

Chr2:178531488

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA141711

rs_200378865

15 SubmittersRCV000040952 RCV000228793 RCV000275138 RCV000330183 RCV000333536 RCV000369582 RCV000383536 RCV000620982 RCV001081694 RCV001170285 RCV005625243

NM_001267550.2(TTN):c.105183G>A (p.Ala35061=)

SNV
Germline

Chr2:178531432

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141716

rs_371075036

13 SubmittersRCV000040954 RCV000291115 RCV000306236 RCV000342687 RCV000386216 RCV000406153 RCV000474673 RCV000622179 RCV001170284 RCV001703919

NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly)

SNV
Germline

Chr2:178764766

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141720

rs_55634230

5 SubmittersRCV000040955 RCV000230763 RCV001697033 RCV002381322

NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)

SNV
Germline

Chr2:178531387

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA284311

rs_55938627

16 SubmittersRCV000040956 RCV000295377 RCV000261411 RCV000316683 RCV000350411 RCV000374814 RCV000488073 RCV000621052 RCV000768822 RCV001084222 RCV004528226

NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met)

SNV
Germline

Chr2:178531355

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA344687

rs_397517795

7 SubmittersRCV000040957 RCV000204885 RCV002408536 RCV003137574 RCV004537121

NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile)

SNV
Germline

Chr2:178531199

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA141726

rs_200782068

7 SubmittersRCV000040959 RCV000172151 RCV001132331 RCV001132333 RCV001133260 RCV001132330 RCV001132332 RCV002408537 RCV002483020

NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)

SNV
Germline

Chr2:178529173

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA284387

rs_55838839

12 SubmittersRCV000040977 RCV000275025 RCV000295013 RCV000330150 RCV000317386 RCV000364730 RCV000462969 RCV000621207 RCV001091785 RCV004537122

NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)

SNV
Germline

Chr2:178529171

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141752

rs_55725279

13 SubmittersRCV000040978 RCV000172601 RCV000269028 RCV000328741 RCV000357546 RCV000363681 RCV000400183 RCV000621595 RCV001082037 RCV004537123

NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)

SNV
Germline

Chr2:178528964

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA284402

rs_55842557

21 SubmittersRCV000040981 RCV000231148 RCV000253556 RCV000287599 RCV000286567 RCV000341504 RCV000347285 RCV000395312 RCV000769842 RCV001529340

NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala)

SNV
Germline

Chr2:178528914

Conflicting classifications of pathogenicity

not specified
6 conditions
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141761

rs_374405802

7 SubmittersRCV000040983 RCV000764292 RCV001129058 RCV001129059 RCV001136027 RCV001136028 RCV001136026 RCV001219380 RCV001548379 RCV002415483

NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)

SNV
Germline

Chr2:178528831

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA284407

rs_183923129

14 SubmittersRCV000040985 RCV000233309 RCV000311379 RCV000274938 RCV000310281 RCV000369768 RCV000398874 RCV000617669 RCV001080543 RCV003149665 RCV004528227

NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)

SNV
Germline

Chr2:178528796

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA141765

rs_200497615

15 SubmittersRCV000040986 RCV000538774 RCV000620414 RCV000726670 RCV001131607 RCV001131608 RCV001131609 RCV001131610 RCV001131606 RCV001171217

NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)

SNV
Germline

Chr2:178527550

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Primary dilated cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141774

rs_72629793

21 SubmittersRCV000040989 RCV000082477 RCV000241675 RCV001079456 RCV000986935 RCV001128833 RCV001135823 RCV001135821 RCV001135822 RCV001171215 RCV001293191 RCV004537124

NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly)

SNV
Germline

Chr2:178527521

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA141780

rs_201835888

10 SubmittersRCV000040991 RCV000466809 RCV000621101 RCV001134356 RCV001135818 RCV001135819 RCV001135820 RCV001135817 RCV001703920

NM_001267550.2(TTN):c.11506G>A (p.Val3836Met)

SNV
Germline

Chr2:178741727

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141947

rs_397517825

11 SubmittersRCV000041078 RCV000539120 RCV000769095 RCV001719777 RCV002390177 RCV004541203

NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile)

SNV
Germline

Chr2:178741561

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141953

rs_148164929

13 SubmittersRCV000041080 RCV000725031 RCV001081319 RCV001171051 RCV002399394 RCV004537137

NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser)

SNV
Germline

Chr2:178741088

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA141967

rs_201888760

13 SubmittersRCV000041086 RCV000172704 RCV000560737 RCV002426582 RCV003486619 RCV004537139

NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr)

SNV
Germline

Chr2:178741052

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141976

rs_397517829

6 SubmittersRCV000041088 RCV000476484 RCV000727750 RCV002453334

NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter)

SNV
Germline

Chr2:178741025

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA261922

rs_397517830

3 SubmittersRCV000041089 RCV002223774 RCV003764701

NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter)

SNV
Germline

Chr2:178740646

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA141989

rs_370912401

7 SubmittersRCV000041096 RCV000233246 RCV000766916 RCV002453335

NM_001267550.2(TTN):c.13969A>C (p.Asn4657His)

SNV
Germline

Chr2:178739264

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hypertrophic cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA142026

rs_200204761

13 SubmittersRCV000041112 RCV000172415 RCV000852920 RCV001083873 RCV001170876 RCV002381323

NM_001267550.2(TTN):c.10679-10G>C

SNV
Germline

Chr2:178756807

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA142031

rs_397517832

2 SubmittersRCV000041114 RCV000863334

NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr)

SNV
Germline

Chr2:178756554

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA142036

rs_141027782

6 SubmittersRCV000041118 RCV000462754 RCV001088266

NM_000337.6(SGCD):c.123C>G (p.Leu41=)

SNV
Germline

Chr5:156344608

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2F
Qualitative or quantitative defects of delta-sarcoglycan
Inborn genetic diseases
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA142617

rs_200670993

12 SubmittersRCV000041401 RCV000725068 RCV001085117 RCV001156235 RCV002371857 RCV005890247

NM_000337.6(SGCD):c.213G>A (p.Arg71=)

SNV
Germline

Chr5:156508621

Conflicting classifications of pathogenicity

not specified
Qualitative or quantitative defects of delta-sarcoglycan
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA142621

rs_74846539

16 SubmittersRCV000041402 RCV000334932 RCV000725174 RCV000770205 RCV001083678 RCV002426583

NM_000337.6(SGCD):c.69C>T (p.Tyr23=)

SNV
Germline

Chr5:156344554

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1L
Autosomal recessive limb-girdle muscular dystrophy type 2F
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Conflicting Classifications

CA142638

rs_397517923

6 SubmittersRCV000041409 RCV000665851 RCV000726379 RCV001089288

NM_000337.6(SGCD):c.699+18C>G

SNV
Germline

Chr5:156757722

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2F
Dilated cardiomyopathy 1L
Autosomal recessive limb-girdle muscular dystrophy type 2F
SGCD-related disorder

Criteria Provided
Conflicting Classifications

CA142644

rs_180898690

10 SubmittersRCV000041411 RCV000172106 RCV000670909 RCV001522616 RCV004754288

NM_032237.5(POMK):c.773A>G (p.Gln258Arg)

SNV
Germline

Chr8:43122597

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Limb-girdle muscular dystrophy due to POMK deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA143783

rs_397509386

3 SubmittersRCV000043556 RCV001068653 RCV005641502

NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)

SNV
Germline

Chr1:46194359

Conflicting classifications of pathogenicity

Muscle eye brain disease
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76

Criteria Provided
Conflicting Classifications

CA263935

rs_386834010

8 SubmittersRCV000049988 RCV000250383 RCV001045717 RCV005629902 RCV005430113 RCV005862959

NM_017739.4(POMGNT1):c.1285-2A>G

SNV
Germline

Chr1:46192438

Pathogenic/Likely pathogenic

Muscle eye brain disease
POMGNT1-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA263941

rs_386834012

6 SubmittersRCV000049991 RCV000292476 RCV000375211 RCV000983991 RCV001853063 RCV003460639 RCV002514260

NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)

SNV
Germline

Chr1:46192379

Conflicting classifications of pathogenicity

Muscle eye brain disease
Retinitis pigmentosa 76
Condition: not provided
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA263945

rs_386834014

8 SubmittersRCV000049993 RCV001542551 RCV003228903 RCV002514261 RCV003460640 RCV002514262 RCV005025103

NM_017739.4(POMGNT1):c.1539+1G>A

SNV
Germline

Chr1:46192097

Pathogenic

Muscle eye brain disease
Condition: not provided
POMGNT1-related disorder
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
Myopathy caused by variation in POMGNT1
Retinal dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Cervical cancer
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Malignant tumor of esophagus
Autosomal recessive POMGNT1-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA234711

rs_138642840

27 SubmittersRCV000049995 RCV000153760 RCV000323217 RCV000501155 RCV000648199 RCV000763345 RCV000983990 RCV001030748 RCV001269143 RCV001196668 RCV002295277 RCV002514263 RCV002470740 RCV004814990 RCV005357428 RCV005890363 RCV005025104 RCV005890362 RCV006633891

NM_017739.4(POMGNT1):c.1539+1G>T

SNV
Germline

Chr1:46192097

Pathogenic

Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA263949

rs_138642840

3 SubmittersRCV000049996 RCV002513695 RCV005430480

NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)

SNV
Germline

Chr1:46189901

Pathogenic

Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA263951

rs_386834018

7 SubmittersRCV000049999 RCV000818740 RCV002514264 RCV003460641 RCV005051746

NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)

SNV
Germline

Chr1:46189870

Pathogenic

Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA263954

rs_386834019

10 SubmittersRCV000050000 RCV000820354 RCV001542522 RCV002514265 RCV002496725 RCV005632218 RCV004566907

NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)

SNV
Germline

Chr1:46189539

Pathogenic/Likely pathogenic

Muscle eye brain disease
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA263958

rs_267606962

8 SubmittersRCV000050002 RCV001269853 RCV001853064 RCV003460642 RCV002513696 RCV005016346

NM_017739.4(POMGNT1):c.1895+1G>A

SNV
Germline

Chr1:46189457

Pathogenic/Likely pathogenic

Muscle eye brain disease
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA263963

rs_386834024

8 SubmittersRCV000050005 RCV000240866 RCV001043665 RCV001810415 RCV002513697 RCV004700352

NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)

SNV
Germline

Chr1:46194853

Pathogenic

Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA263981

rs_386834034

10 SubmittersRCV000050017 RCV000408610 RCV000578838 RCV000984295 RCV000984294 RCV001062800 RCV002272048 RCV003460643 RCV005016347

NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys)

SNV
Germline

Chr1:46194637

Conflicting classifications of pathogenicity

Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Conflicting Classifications

CA263984

rs_386834036

4 SubmittersRCV000050019 RCV002514268 RCV005639077 RCV003466919

NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)

SNV
Germline

Chr1:46193874

Pathogenic

Muscle eye brain disease
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76

Criteria Provided
Multiple Submitters
No Conflicts

CA223256

rs_386834039

9 SubmittersRCV000050023 RCV000081807 RCV000984204 RCV000984205 RCV001039421 RCV000984300 RCV003466920 RCV005016348

NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg)

SNV
Germline

Chr4:183701783

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18
Muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA144539

rs_397509417

8 SubmittersRCV000054408 RCV004798763

NM_021942.6(TRAPPC11):c.1287+5G>A

SNV
Germline

Chr4:183684059

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal recessive 23

Criteria Provided
Multiple Submitters
No Conflicts

CA144540

rs_397509418

13 SubmittersRCV000054409 RCV000414573 RCV001254697

NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)

SNV
Germline

Chr3:49721835

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided
Abnormality of the musculature
Inborn genetic diseases
GMPPB-related disorder
Limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA144551

rs_397509422

13 SubmittersRCV000054432 RCV000054433 RCV000651273 RCV000788090 RCV001836725 RCV002513710 RCV004549480 RCV005625254

NM_021971.4(GMPPB):c.64C>T (p.Pro22Ser)

SNV
Germline

Chr3:49723663

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2T

No Assertion Criteria Provided

CA144557

rs_397509424

1 SubmittersRCV000054435

NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)

SNV
Germline

Chr3:49722604

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA144560

rs_397509425

7 SubmittersRCV000054436 RCV000054437 RCV000200261 RCV000503216 RCV000623944 RCV001781385

NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu)

SNV
Germline

Chr3:49723632

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Multiple Submitters
No Conflicts

CA090934

rs_397509426

5 SubmittersRCV000054438 RCV000209926 RCV000493576 RCV000684892

NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)

SNV
Germline

Chr3:49722056

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Inborn genetic diseases
Abnormality of the musculature
GMPPB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA090892

rs_202160208

22 SubmittersRCV000054439 RCV000209893 RCV000520160 RCV000553832 RCV001542745 RCV001266808 RCV001814035 RCV003407434

NM_021971.4(GMPPB):c.79G>C (p.Asp27His)

SNV
Germline

Chr3:49723648

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Inborn genetic diseases
GMPPB-related disorder
Acute rhabdomyolysis

Criteria Provided
Multiple Submitters
No Conflicts

CA144567

rs_142336618

19 SubmittersRCV000054440 RCV000444697 RCV000533184 RCV000610921 RCV001331794 RCV003388824 RCV002513711 RCV003421962 RCV005865226

NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)

SNV
Germline

Chr3:49721847

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided
Muscular dystrophy-dystroglycanopathy
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Autosomal recessive GMPPB-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA144570

rs_199922550

10 SubmittersRCV000054441 RCV000440664 RCV000501778 RCV000623470 RCV000651278 RCV001330455 RCV006554445

NM_001267550.2(TTN):c.95232C>T (p.Ile31744=)

SNV
Germline

Chr2:178546004

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986985

rs_267599026

3 SubmittersRCV000727839 RCV002513790 RCV004019076

NM_001267550.2(TTN):c.57692G>A (p.Trp19231Ter)

SNV
Germline

Chr2:178595662

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60973642

rs_267599044

1 SubmittersRCV002001044

NM_001267550.2(TTN):c.22592G>A (p.Ser7531Asn)

SNV
Germline

Chr2:178722071

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000803

rs_267599060

2 SubmittersRCV000643853 RCV001555800

NM_001267550.2(TTN):c.16057C>T (p.Arg5353Ter)

SNV
Germline

Chr2:178733119

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002098

rs_267599069

2 SubmittersRCV001058308 RCV005632225

NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys)

SNV
Germline

Chr2:178773253

Conflicting classifications of pathogenicity

6 conditions
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311474

rs_149660690

5 SubmittersRCV005025113 RCV000185190 RCV000535408 RCV000620633 RCV000734888

NM_213599.3(ANO5):c.1746C>T (p.Phe582=)

SNV
Germline

Chr11:22262244

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA218768059

rs_267602823

2 SubmittersRCV000729825 RCV001458065

NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp)

SNV
Germline

Chr14:77296235

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
not specified

Criteria Provided
Conflicting Classifications

CA248160

rs_141339355

6 SubmittersRCV000712831 RCV001088687 RCV006456672

NM_000023.4(SGCA):c.101G>A (p.Arg34His)

SNV
Germline

Chr17:50167431

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA199071

rs_371675217

17 SubmittersRCV000077936 RCV000169164 RCV004998203

NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)

SNV
Germline

Chr17:50167665

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy
SGCA-related disorder

Reviewed By Expert Panel

CA220233

rs_398123098

8 SubmittersRCV000077938 RCV001854369 RCV004998204 RCV004755760

NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)

SNV
Germline

Chr17:50167962

Conflicting classifications of pathogenicity

Condition: not provided
Sarcoglycanopathy
Hypertrophic cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2D
SGCA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA220236

rs_200137051

9 SubmittersRCV000077939 RCV000391706 RCV000852722 RCV001437168 RCV003915047 RCV004019523

NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)

SNV
Germline

Chr15:42401721

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
CAPN3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA220341

rs_201736037

11 SubmittersRCV000280277 RCV000790779 RCV002271401 RCV002498373 RCV003474672 RCV004732653

NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)

SNV
Germline

Chr15:42402879

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA220342

rs_398123143

11 SubmittersRCV000338313 RCV000790834 RCV003474673 RCV005237519

NM_000070.3(CAPN3):c.1746-20C>G

SNV
Germline

Chr15:42403721

Pathogenic

not specified
Condition: not provided
8 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
See cases
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Reviewed By Expert Panel

CA220343

rs_201892814

18 SubmittersRCV000078089 RCV000585323 RCV000626578 RCV000559180 RCV003225929 RCV004797780 RCV005394336

NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)

SNV
Germline

Chr15:42411299

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA220348

rs_149095128

14 SubmittersRCV000078095 RCV000201145 RCV001804832 RCV002504988 RCV003474674

NM_000232.5(SGCB):c.1A>G (p.Met1Val)

SNV
Germline

Chr4:52038259

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA200290

rs_398123262

10 SubmittersRCV000173087 RCV001049531 RCV001594381

NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)

SNV
Germline

Chr4:52029739

Conflicting classifications of pathogenicity

Condition: not provided
Qualitative or quantitative defects of beta-sarcoglycan
Autosomal recessive limb-girdle muscular dystrophy type 2E
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA220521

rs_398123263

6 SubmittersRCV000078412 RCV000405910 RCV001085043 RCV001293238

NM_201384.3(PLEC):c.946-6T>C

SNV
Germline

Chr8:143934736

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA220835

rs_200168705

2 SubmittersRCV000078831 RCV001078660

NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser)

SNV
Germline

Chr8:143919404

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA220836

rs_201765507

6 SubmittersRCV000723747 RCV001088568 RCV004537313

NM_201384.3(PLEC):c.10656G>A (p.Val3552=)

SNV
Germline

Chr8:143919165

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
PLEC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA220845

rs_368312695

6 SubmittersRCV000078834 RCV001088523 RCV004542753 RCV006456680

NM_201384.3(PLEC):c.2263G>A (p.Ala755Thr)

SNV
Germline

Chr8:143931575

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases
PLEC-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA220864

rs_200173947

6 SubmittersRCV000078852 RCV000873584 RCV002513828 RCV004537316 RCV004706478

NM_201384.3(PLEC):c.3111C>T (p.Gly1037=)

SNV
Germline

Chr8:143929252

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA220874

rs_398123397

2 SubmittersRCV000078855 RCV002514386

NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu)

SNV
Germline

Chr8:143925373

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA220883

rs_182120395

9 SubmittersRCV000078868 RCV000544997 RCV001086335 RCV004737185

NM_201384.3(PLEC):c.4707G>A (p.Thr1569=)

SNV
Germline

Chr8:143925222

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA220892

rs_398123398

2 SubmittersRCV000078872 RCV002514387

NM_201384.3(PLEC):c.5930C>T (p.Ala1977Val)

SNV
Germline

Chr8:143923999

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA220937

rs_398123401

6 SubmittersRCV000078884 RCV000554019 RCV002514388 RCV004700388

NM_201384.3(PLEC):c.7821C>T (p.Ala2607=)

SNV
Germline

Chr8:143922000

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA220955

rs_398123402

2 SubmittersRCV000078894 RCV000534108

NM_201384.3(PLEC):c.7880C>G (p.Pro2627Arg)

SNV
Germline

Chr8:143921941

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA146563

rs_184879368

7 SubmittersRCV000078896 RCV000527429 RCV001711188 RCV005702151

NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)

SNV
Germline

Chr9:105575073

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Autosomal recessive limb-girdle muscular dystrophy type 2M
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA221461

rs_149033995

9 SubmittersRCV000079435 RCV000634064 RCV002504991 RCV004019537 RCV006456682

NM_001849.4(COL6A2):c.1970-3C>A

SNV
Germline

Chr21:46125782

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
Tip-toe gait
Myosclerosis
Bethlem myopathy 1B
Ullrich congenital muscular dystrophy 1B
not specified
Lung cancer
Familial cancer of breast
Limb-girdle muscular dystrophy
Ovarian serous cystadenocarcinoma
Melanoma
Acute myeloid leukemia
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Cervical cancer

Criteria Provided
Conflicting Classifications

CA221815

rs_201879417

11 SubmittersRCV000300588 RCV000415855 RCV000709829 RCV001084118 RCV003319318 RCV005394344 RCV005417455 RCV005886336 RCV005886329 RCV005625276 RCV005886334 RCV005886335 RCV005886330 RCV005886331 RCV005886332 RCV005886333

NM_001130987.2(DYSF):c.1149+1G>A

SNV
Germline

Chr2:71520905

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222120

rs_398123763

8 SubmittersRCV000174082 RCV000700616 RCV000711544 RCV000763501 RCV003466976 RCV005600649

NM_001130987.2(DYSF):c.1380+2T>C

SNV
Germline

Chr2:71528403

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
DYSF-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA222122

rs_398123765

6 SubmittersRCV000080229 RCV000174526 RCV003574709 RCV003466978 RCV005867871

NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)

SNV
Germline

Chr2:71535282

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222125

rs_202044973

10 SubmittersRCV000080232 RCV000174882 RCV000698361 RCV003466979 RCV005025135 RCV006445495

NM_001130987.2(DYSF):c.1494-1G>A

SNV
Germline

Chr2:71539156

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA222128

rs_398123768

4 SubmittersRCV000175043 RCV000790756 RCV003574710 RCV006249585

NM_003494.4(DYSF):c.1481-1G>A

SNV
Germline

Chr2:71549349

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222130

rs_398123770

9 SubmittersRCV000175175 RCV000711548 RCV002477229 RCV002514411 RCV003460748 RCV006252431

NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)

SNV
Germline

Chr2:71551631

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
DYSF-related disorder
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222133

rs_377735262

14 SubmittersRCV000080241 RCV000984167 RCV001384924 RCV003460749 RCV004549502 RCV005031566 RCV004998208

NM_001130987.2(DYSF):c.1944G>A (p.Pro648=)

SNV
Germline

Chr2:71553148

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA147730

rs_115849497

8 SubmittersRCV000080246 RCV000544595 RCV001274450

NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter)

SNV
Germline

Chr2:71561900

Pathogenic

Condition: not provided
Distal myopathy with anterior tibial onset
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA222137

rs_398123773

6 SubmittersRCV000176393 RCV001089587 RCV001390522 RCV003466982 RCV005025136

NM_001130987.2(DYSF):c.2697+1G>A

SNV
Germline

Chr2:71568083

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
DYSF-related disorder
Autosomal recessive limb-girdle muscular dystrophy
Clear cell carcinoma of kidney
Papillary renal cell carcinoma type 1

Reviewed By Expert Panel

CA222141

rs_140108514

16 SubmittersRCV000080255 RCV000176550 RCV000233433 RCV000697172 RCV000763504 RCV003415848 RCV004998211 RCV005886431 RCV005886430

NM_001130987.2(DYSF):c.2706C>T (p.Asn902=)

SNV
Germline

Chr2:71568180

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA222142

rs_398123775

3 SubmittersRCV000080256 RCV000668890 RCV002055161

NM_001130987.2(DYSF):c.3086-17G>T

SNV
Germline

Chr2:71570582

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA222149

rs_3764971

3 SubmittersRCV000080263 RCV000667521 RCV002515772

NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=)

SNV
Germline

Chr2:71570627

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA222150

rs_398123778

5 SubmittersRCV000080264 RCV000666317 RCV001084847

NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)

SNV
Germline

Chr2:71612726

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA222164

rs_398123787

12 SubmittersRCV000080287 RCV000177998 RCV000536105 RCV003460751 RCV003993797 RCV005025137

NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)

SNV
Germline

Chr2:71511892

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA222166

rs_139654844

7 SubmittersRCV000080288 RCV000647983 RCV001276718 RCV004019553

NM_001130987.2(DYSF):c.4556A>C (p.Lys1519Thr)

SNV
Germline

Chr2:71643993

Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222170

rs_398123788

6 SubmittersRCV000080290 RCV001854416 RCV003460752 RCV005614381 RCV005600652

NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)

SNV
Germline

Chr2:71658970

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA147764

rs_62145939

11 SubmittersRCV000080294 RCV000538106 RCV001271545 RCV001795106

NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)

SNV
Germline

Chr2:71658995

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222174

rs_398123789

13 SubmittersRCV000178524 RCV000790739 RCV000794872 RCV003466985 RCV005409617 RCV005600653

NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)

SNV
Germline

Chr2:71659033

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
DYSF-related disorder
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222176

rs_141704244

12 SubmittersRCV000080297 RCV000548178 RCV001271548 RCV003466986 RCV004549503 RCV005025138 RCV005406809

NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)

SNV
Germline

Chr2:71660641

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA222178

rs_147056383

12 SubmittersRCV000080298 RCV000669830 RCV000864868 RCV001086563 RCV003952509

NM_001130987.2(DYSF):c.606G>A (p.Ala202=)

SNV
Germline

Chr2:71513768

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA222182

rs_398123791

4 SubmittersRCV000080301 RCV001086592 RCV001826719 RCV003894938

NM_001130987.2(DYSF):c.5546+1G>T

SNV
Germline

Chr2:71668843

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222185

rs_398123793

2 SubmittersRCV000178661 RCV006252434

NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)

SNV
Germline

Chr2:71669191

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
DYSF-related disorder
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222190

rs_398123794

10 SubmittersRCV000178688 RCV000790680 RCV001384247 RCV003466987 RCV005031568 RCV005867872 RCV006252435

NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)

SNV
Germline

Chr2:71513868

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Reviewed By Expert Panel

CA222201

rs_373585652

11 SubmittersRCV000179424 RCV000693273 RCV000711569 RCV003114244 RCV003474680

NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)

SNV
Germline

Chr2:71682612

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA222205

rs_150834671

8 SubmittersRCV000543402 RCV000725370 RCV001449586 RCV001276874

NM_001130987.2(DYSF):c.759+1G>C

SNV
Germline

Chr2:71513922

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA222207

rs_398123800

5 SubmittersRCV000179423 RCV000790678 RCV001386483 RCV002498413 RCV003474681

NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)

SNV
Germline

Chr2:71515714

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Reviewed By Expert Panel

CA222210

rs_398123802

10 SubmittersRCV000595897 RCV000790709 RCV001237531 RCV001814050 RCV003317083 RCV003466990

NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)

SNV
Germline

Chr2:71516990

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222220

rs_398123807

6 SubmittersRCV000080333 RCV000696449 RCV001831823 RCV003330426

NM_001130987.2(DYSF):c.961T>C (p.Ser321Pro)

SNV
Germline

Chr2:71516998

Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222222

rs_398123808

4 SubmittersRCV000080334 RCV003236666 RCV003460754 RCV005600655

NM_001130987.2(DYSF):c.1033+1G>A

SNV
Germline

Chr2:71520209

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA222224

rs_201869739

9 SubmittersRCV000173782 RCV000262780 RCV000801493 RCV001810422 RCV003466991 RCV006445498

NM_001164508.2(NEB):c.8072G>A (p.Arg2691His)

SNV
Germline

Chr2:151643238

Conflicting classifications of pathogenicity

not specified
Nemaline myopathy 2
Condition: not provided
NEB-related disorder
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA148262

rs_35555631

6 SubmittersRCV000081145 RCV000873814 RCV001697106 RCV004549520 RCV005625281

NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)

SNV
Germline

Chr9:131513243

Pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA222989

rs_200056620

12 SubmittersRCV000081477 RCV000578428 RCV000686940 RCV002288580 RCV003460755 RCV002498428 RCV004689449

NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)

SNV
Germline

Chr9:131506123

Pathogenic/Likely pathogenic

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
POMT1-related disorder
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA222993

rs_398124244

8 SubmittersRCV000177268 RCV001376971 RCV002477237 RCV003474682 RCV004529856 RCV005431467

NM_001077365.2(POMT1):c.1365+15C>T

SNV
Germline

Chr9:131518552

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2K
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA222995

rs_58896330

5 SubmittersRCV000250460 RCV000406427 RCV000723552 RCV002055205

NM_001077365.2(POMT1):c.1416C>T (p.Val472=)

SNV
Germline

Chr9:131518887

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Condition: not provided
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA148550

rs_139687326

7 SubmittersRCV000081483 RCV000302685 RCV000537255 RCV001697139 RCV004528292

NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)

SNV
Germline

Chr9:131519401

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Intellectual disability
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Conflicting Classifications

CA206170

rs_117985576

17 SubmittersRCV000192982 RCV000443667 RCV000515174 RCV001085429 RCV001166758 RCV001252355 RCV001332898

NM_001077365.2(POMT1):c.2115G>A (p.Ser705=)

SNV
Germline

Chr9:131523043

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2K
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA222997

rs_76092524

6 SubmittersRCV000253981 RCV000285946 RCV000712823 RCV001087221

NM_001077365.2(POMT1):c.310C>T (p.Leu104=)

SNV
Germline

Chr9:131507397

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA222999

rs_146982282

3 SubmittersRCV000081490 RCV001517108 RCV004734639

NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter)

SNV
Germline

Chr9:131510287

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Myopathy caused by variation in POMT1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA223003

rs_398124247

7 SubmittersRCV000081494 RCV002513831 RCV003314560 RCV003474683

NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)

SNV
Germline

Chr9:131510312

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA223005

rs_139660235

7 SubmittersRCV000081495 RCV000764803 RCV001328597 RCV001341723 RCV004542790

NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter)

SNV
Germline

Chr14:77285548

Pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Multiple Submitters
No Conflicts

CA223068

rs_368817785

4 SubmittersRCV000081565 RCV000705738

NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)

SNV
Germline

Chr14:77320450

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
not specified
POMT2-related disorder

Criteria Provided
Conflicting Classifications

CA223080

rs_151103906

9 SubmittersRCV000303743 RCV000765180 RCV000712838 RCV001084326 RCV001705757 RCV003952518

NM_013382.7(POMT2):c.320C>T (p.Pro107Leu)

SNV
Germline

Chr14:77311962

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Intellectual disability

Criteria Provided
Conflicting Classifications

CA223086

rs_398124264

8 SubmittersRCV000081574 RCV000550659 RCV000989247 RCV001252356

NM_013382.7(POMT2):c.559C>T (p.Leu187Phe)

SNV
Germline

Chr14:77302932

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA223091

rs_398124265

3 SubmittersRCV000081576 RCV002513833

NM_017739.4(POMGNT1):c.236-13T>C

SNV
Germline

Chr1:46196862

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA148806

rs_150578902

5 SubmittersRCV000081802 RCV000828431 RCV001101653 RCV001101654 RCV001521834

NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)

SNV
Germline

Chr1:46196784

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA148807

rs_150576537

14 SubmittersRCV000081803 RCV000312026 RCV000369008 RCV000667593 RCV001079365 RCV000710196 RCV001449947 RCV004528294

NM_017739.4(POMGNT1):c.582G>A (p.Arg194=)

SNV
Germline

Chr1:46194914

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA223252

rs_398124309

2 SubmittersRCV000081804 RCV001398919

NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)

SNV
Germline

Chr19:46755791

Conflicting classifications of pathogenicity

not specified
Walker-Warburg congenital muscular dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA149248

rs_143793528

16 SubmittersRCV000082175 RCV000227473 RCV000711662 RCV000577971 RCV001563823 RCV001563824 RCV002453409

NM_024301.5(FKRP):c.606G>A (p.Leu202=)

SNV
Germline

Chr19:46756056

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype
FKRP-related disorder

Criteria Provided
Conflicting Classifications

CA223743

rs_140084192

11 SubmittersRCV000082180 RCV000723553 RCV001088477 RCV001831885 RCV002354284 RCV004542795

NM_024301.5(FKRP):c.696G>T (p.Ala232=)

SNV
Germline

Chr19:46756146

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA223745

rs_398124394

4 SubmittersRCV000082181 RCV000665517 RCV001494780 RCV005562305

NM_024301.5(FKRP):c.941C>T (p.Thr314Met)

SNV
Germline

Chr19:46756391

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5

Criteria Provided
Multiple Submitters
No Conflicts

CA202828

rs_398124395

8 SubmittersRCV000082183 RCV000178344 RCV001050280 RCV003466994 RCV003987356

NM_001267550.2(TTN):c.14424G>C (p.Val4808=)

SNV
Germline

Chr2:178736022

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA223879

rs_374479775

7 SubmittersRCV000225699 RCV000725707 RCV001170874 RCV001084587

NM_001267550.2(TTN):c.23616C>T (p.Asn7872=)

SNV
Germline

Chr2:178720026

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA223891

rs_181206334

8 SubmittersRCV000082373 RCV001086234 RCV001582572 RCV001798279 RCV004542796

NM_001267550.2(TTN):c.24139T>C (p.Leu8047=)

SNV
Germline

Chr2:178719251

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA223900

rs_398124442

3 SubmittersRCV000082375 RCV002055227 RCV003149767

NM_001267550.2(TTN):c.27702T>C (p.Ile9234=)

SNV
Germline

Chr2:178712128

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA223913

rs_143368674

16 SubmittersRCV000244485 RCV000221682 RCV000289504 RCV000318601 RCV000368614 RCV000388555 RCV000334030 RCV000472277 RCV000769904 RCV001080202 RCV004734642

NM_001267550.2(TTN):c.28131C>T (p.Asn9377=)

SNV
Germline

Chr2:178711105

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA223917

rs_72648997

14 SubmittersRCV000214658 RCV000725696 RCV001087430 RCV001170858 RCV001130935 RCV001130937 RCV001133893 RCV001130936 RCV001133894

NM_001267550.2(TTN):c.28754-7A>T

SNV
Germline

Chr2:178707820

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA223921

rs_398124445

2 SubmittersRCV000082385 RCV001089243

NM_001267550.2(TTN):c.2765G>A (p.Arg922His)

SNV
Germline

Chr2:178784080

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA149418

rs_56046320

12 SubmittersRCV000082388 RCV000462914 RCV000617419 RCV000852943 RCV001133517 RCV001133519 RCV001133516 RCV001133518 RCV001133520 RCV001811386 RCV003486639

NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu)

SNV
Germline

Chr2:178659050

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA285769

rs_398124448

9 SubmittersRCV000082394 RCV000467432 RCV000765579 RCV001705786

NM_001267550.2(TTN):c.39548-8A>G

SNV
Germline

Chr2:178651328

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA178879

rs_369594816

5 SubmittersRCV000152361 RCV000723598 RCV001089077

NM_001267550.2(TTN):c.39786A>G (p.Glu13262=)

SNV
Germline

Chr2:178650195

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA223935

rs_398124450

8 SubmittersRCV000219253 RCV000725698 RCV001079567

NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)

SNV
Germline

Chr2:178618381

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181789

rs_201717871

20 SubmittersRCV000082407 RCV000154942 RCV000298829 RCV000335113 RCV000368094 RCV000299417 RCV000404084 RCV000618716 RCV001079941 RCV001798280 RCV004542797

NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)

SNV
Germline

Chr2:178608347

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
not specified
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA223945

rs_199615557

16 SubmittersRCV000082414 RCV000230058 RCV000280893 RCV000284416 RCV000341274 RCV000319623 RCV000376497 RCV001553555 RCV002453410 RCV003486641

NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg)

SNV
Germline

Chr2:178584879

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary dilated cardiomyopathy
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181752

rs_181717727

13 SubmittersRCV000154930 RCV000272166 RCV000329528 RCV000289674 RCV000381758 RCV000342201 RCV000468946 RCV000619243 RCV000852823 RCV001798281 RCV001811388

NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)

SNV
Germline

Chr2:178577602

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Uveal melanoma
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA223957

rs_199506676

14 SubmittersRCV000082422 RCV000243614 RCV000209613 RCV000461211 RCV000725504 RCV000765553 RCV001131150 RCV001131151 RCV001134109 RCV001131152 RCV001131153 RCV003486642 RCV005887650 RCV005887651 RCV005887649

NM_001267550.2(TTN):c.70491C>T (p.Thr23497=)

SNV
Germline

Chr2:178575641

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA211199

rs_372382315

9 SubmittersRCV000152231 RCV001080767 RCV000723764 RCV001133735 RCV001133734 RCV001133731 RCV001133732 RCV001133733 RCV002326801

NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)

SNV
Germline

Chr2:178575481

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA223961

rs_72646889

12 SubmittersRCV000220711 RCV000725697 RCV001079568 RCV001130061 RCV001130060 RCV001135090 RCV001130059 RCV001135089 RCV002326802

NM_001267550.2(TTN):c.72167G>A (p.Arg24056His)

SNV
Germline

Chr2:178573965

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA223965

rs_398124455

6 SubmittersRCV000082427 RCV001087441 RCV001699202

NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala)

SNV
Germline

Chr2:178571536

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA285779

rs_199784966

8 SubmittersRCV000617309 RCV000725164 RCV001082586 RCV002265602 RCV003486643

NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu)

SNV
Germline

Chr2:178565869

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA178482

rs_200181804

14 SubmittersRCV000152208 RCV000261192 RCV000332574 RCV000389361 RCV000301222 RCV000467146 RCV000353634 RCV000723763 RCV001170790 RCV002345399 RCV004529866 RCV005394349

NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro)

SNV
Germline

Chr2:178564885

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181698

rs_186273940

10 SubmittersRCV000082433 RCV000154913 RCV000229774 RCV000252341

NM_001267550.2(TTN):c.83733C>T (p.Ser27911=)

SNV
Germline

Chr2:178562399

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA223977

rs_375442124

9 SubmittersRCV000082435 RCV001083975 RCV001582573 RCV001798282 RCV002345400 RCV004542798

NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala)

SNV
Germline

Chr2:178562392

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary dilated cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181689

rs_188370772

13 SubmittersRCV000154911 RCV000231904 RCV000621416 RCV000852803 RCV001130750 RCV001130752 RCV001130751 RCV001130753 RCV001133725 RCV001811389 RCV003486644

NM_001267550.2(TTN):c.87707-4G>T

SNV
Germline

Chr2:178557559

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA211128

rs_201770959

19 SubmittersRCV000154904 RCV000272726 RCV000266636 RCV000249525 RCV000324137 RCV000359033 RCV000364984 RCV000472169 RCV000768871 RCV001086313

NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val)

SNV
Germline

Chr2:178554639

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181657

rs_139506970

13 SubmittersRCV000154901 RCV000232949 RCV000619471 RCV000852798 RCV001128958 RCV001128959 RCV001128960 RCV001128961 RCV001128962 RCV001811390 RCV003486645

NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)

SNV
Germline

Chr2:178553619

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Hypertrophic cardiomyopathy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Primary dilated cardiomyopathy
7 conditions
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181641

rs_72648237

17 SubmittersRCV000082442 RCV000154897 RCV000283095 RCV000298847 RCV000353742 RCV000343194 RCV000246600 RCV000393180 RCV000404036 RCV001080123 RCV001170311 RCV001293236 RCV001270084 RCV004529867

NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)

SNV
Germline

Chr2:178547242

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181617

rs_149375775

14 SubmittersRCV000154889 RCV000463812 RCV001727567 RCV002362733 RCV004529868

NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)

SNV
Germline

Chr2:178545966

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA181612

rs_72648259

15 SubmittersRCV000082452 RCV000154888 RCV000263196 RCV000312560 RCV000317322 RCV000355719 RCV000369634 RCV000465970 RCV001170760 RCV002362734 RCV004529869 RCV005394350

NM_001267550.2(TTN):c.96015C>T (p.Pro32005=)

SNV
Germline

Chr2:178544214

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA223989

rs_183620684

8 SubmittersRCV000082454 RCV000244743 RCV001079012 RCV001420776 RCV004734644

NM_001267550.2(TTN):c.96501T>C (p.Ser32167=)

SNV
Germline

Chr2:178543472

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA295734

rs_139223781

15 SubmittersRCV000154886 RCV000227702 RCV000618156 RCV001130418 RCV001135493 RCV001130419 RCV001130420 RCV001130421 RCV001529854 RCV003486646

NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)

SNV
Germline

Chr2:178542370

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA223997

rs_376810671

16 SubmittersRCV000082458 RCV000260318 RCV000277832 RCV000251217 RCV000308697 RCV000314163 RCV000367775 RCV000769869 RCV000724942 RCV001085154

NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr)

SNV
Germline

Chr2:178542266

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary dilated cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181603

rs_55660660

14 SubmittersRCV000154885 RCV000229045 RCV000620292 RCV000852784 RCV001130045 RCV001130046 RCV001130047 RCV001130048 RCV001130049 RCV001811391 RCV003486647

NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu)

SNV
Germline

Chr2:178539109

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA285784

rs_190967471

7 SubmittersRCV000259070 RCV000465659 RCV000723663 RCV002371932 RCV004734645

NM_001267550.2(TTN):c.9443G>A (p.Arg3148His)

SNV
Germline

Chr2:178767787

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA224005

rs_368786036

6 SubmittersRCV000709826 RCV000714122

NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)

SNV
Germline

Chr2:178533198

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA285790

rs_188917199

8 SubmittersRCV000259069 RCV000293378 RCV000294576 RCV000333239 RCV000373025 RCV000385289 RCV000470580 RCV000723662 RCV002390246

NM_213599.3(ANO5):c.242A>G (p.Asp81Gly)

SNV
Germline

Chr11:22221158

Pathogenic/Likely pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA224411

rs_199501657

6 SubmittersRCV000082846 RCV001377409 RCV004700398

NM_213599.3(ANO5):c.364-8T>A

SNV
Germline

Chr11:22227294

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA224417

rs_398124624

2 SubmittersRCV000082850 RCV001480649

NM_213599.3(ANO5):c.41-1G>A

SNV
Germline

Chr11:22203803

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA201762

rs_398124625

7 SubmittersRCV000082852 RCV000176019 RCV000645359

NM_000070.3(CAPN3):c.1830C>T (p.Asn610=)

SNV
Germline

Chr15:42408240

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
not specified
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA230931

rs_202019404

6 SubmittersRCV000116540 RCV000355668 RCV000418961 RCV004529960

NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)

SNV
Germline

Chr15:42410646

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA345536

rs_587780290

16 SubmittersRCV000116542 RCV000489478 RCV001814062 RCV003474720 RCV005008017

NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala)

SNV
Germline

Chr15:42384544

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA345537

rs_587780291

6 SubmittersRCV000116543 RCV000711021 RCV002528206

NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His)

SNV
Germline

Chr2:71574310

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA152663

rs_59915619

8 SubmittersRCV000116927 RCV001086595 RCV001826784

NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=)

SNV
Germline

Chr2:71612796

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Cervical cancer
Gastric cancer
Thyroid cancer, nonmedullary, 1
Thymoma
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA152667

rs_76576806

9 SubmittersRCV000116929 RCV000711561 RCV001080539 RCV001271538 RCV005888065 RCV005888066 RCV005888068 RCV005888067 RCV005888064

NM_024301.5(FKRP):c.822C>G (p.Ile274Met)

SNV
Germline

Chr19:46756272

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA152821

rs_77138370

14 SubmittersRCV000117039 RCV000711666 RCV001086481 RCV001836732 RCV002426662

NM_201384.3(PLEC):c.12615C>T (p.Ile4205=)

SNV
Germline

Chr8:143917206

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA154407

rs_202116866

7 SubmittersRCV000117950 RCV000726487 RCV001087438

NM_000445.5(PLEC):c.133G>A (p.Gly45Ser)

SNV
Germline

Chr8:143975237

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA154434

rs_201820569

5 SubmittersRCV000117953 RCV000558023 RCV000725963

NM_013382.7(POMT2):c.1006+5G>A

SNV
Germline

Chr14:77298684

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Conflicting Classifications

CA269780

rs_587780422

7 SubmittersRCV000118039 RCV000725964 RCV001344111 RCV003226202 RCV003474721

NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys)

SNV
Germline

Chr14:77299497

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA269781

rs_587780423

6 SubmittersRCV000118041 RCV000497603 RCV001778739 RCV003474722 RCV005008018

NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter)

SNV
Germline

Chr2:178733497

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Orofacial cleft 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA269788

rs_372277017

4 SubmittersRCV000118735 RCV000807735 RCV003320566 RCV003159098

NM_001267550.2(TTN):c.1297G>A (p.Val433Ile)

SNV
Germline

Chr2:178794500

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA289082

rs_146000949

15 SubmittersRCV000118737 RCV000227944 RCV000229796 RCV001134163 RCV001134164 RCV001134165 RCV001134166 RCV001134167 RCV002381429 RCV004529987

NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)

SNV
Germline

Chr2:178713271

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA181864

rs_72648994

16 SubmittersRCV000118747 RCV000154969 RCV001082127 RCV001170861 RCV002224961

NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu)

SNV
Germline

Chr2:178642237

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA231595

rs_587780488

10 SubmittersRCV000118752 RCV000209291 RCV000525548 RCV001542652 RCV003235044 RCV004797596

NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val)

SNV
Germline

Chr2:178608872

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA289095

rs_373305248

12 SubmittersRCV000118764 RCV000253770 RCV000532684 RCV001133285 RCV001133286 RCV001133287 RCV001133288 RCV001133289 RCV005394402 RCV005406832

NM_001267550.2(TTN):c.57273C>T (p.Asp19091=)

SNV
Germline

Chr2:178597809

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA155878

rs_587780489

3 SubmittersRCV000118767 RCV000724559 RCV001430700

NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter)

SNV
Germline

Chr2:178776817

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA269792

rs_587780490

5 SubmittersRCV000118769 RCV001053412 RCV002336259 RCV002464117 RCV004017402

NM_001267550.2(TTN):c.59247C>T (p.Asp19749=)

SNV
Germline

Chr2:178592872

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA155882

rs_587780491

4 SubmittersRCV000118770 RCV001133165 RCV001133167 RCV001133164 RCV001404960 RCV001133166 RCV001133168 RCV004678613

NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser)

SNV
Germline

Chr2:178592871

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA231599

rs_200732032

11 SubmittersRCV000118771 RCV000556436 RCV001132252 RCV001132253 RCV001132254 RCV001133162 RCV001133163 RCV002321598 RCV005403764

NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn)

SNV
Germline

Chr2:178574291

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA289100

rs_56019808

11 SubmittersRCV000118778 RCV000412700 RCV001088347 RCV002326818 RCV004542862

NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)

SNV
Germline

Chr2:178568416

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181709

rs_56341835

13 SubmittersRCV000118781 RCV000154916 RCV000260854 RCV000280942 RCV000316126 RCV000375446 RCV000385773 RCV001081879 RCV002336260

NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp)

SNV
Germline

Chr2:178567236

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178490

rs_73036377

11 SubmittersRCV000118782 RCV000152210 RCV000618164 RCV001083638 RCV005051749 RCV004734657

NM_001267550.2(TTN):c.80322C>T (p.Ala26774=)

SNV
Germline

Chr2:178565810

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA289105

rs_55892928

18 SubmittersRCV000118783 RCV000471248 RCV000769934 RCV001129405 RCV001132115 RCV001129406 RCV001132116 RCV001129404 RCV001727579 RCV002345423 RCV004542863

NM_001267550.2(TTN):c.100315T>C (p.Trp33439Arg)

SNV
Germline

Chr2:178536432

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA289110

rs_545443009

4 SubmittersRCV000118796 RCV000279980 RCV000337342 RCV000284327 RCV000407424 RCV000407478

NM_001267550.2(TTN):c.9338G>A (p.Arg3113His)

SNV
Germline

Chr2:178767892

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA289115

rs_141258018

12 SubmittersRCV000118797 RCV000273543 RCV000313328 RCV000317280 RCV000355456 RCV000319315 RCV000395255 RCV001082250 RCV001293103 RCV001798370 RCV002444573 RCV004542865

NM_001267550.2(TTN):c.102963C>T (p.Asn34321=)

SNV
Germline

Chr2:178533652

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA155890

rs_528502993

5 SubmittersRCV000118802 RCV000253169 RCV000534275 RCV000726088

NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)

SNV
Germline

Chr2:178533468

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tip-toe gait
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181560

rs_148525155

18 SubmittersRCV000118803 RCV000154869 RCV000769847 RCV001086370 RCV002225083 RCV002390268

NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)

SNV
Germline

Chr2:178546102

Pathogenic/Likely pathogenic

Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA358820

rs_869320740

16 SubmittersRCV000119021 RCV000254991 RCV000627779 RCV000768851 RCV004767078 RCV005025188 RCV003989320 RCV005403765

NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)

SNV
Germline

Chr2:178546049

Pathogenic/Likely pathogenic

Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA358826

rs_869320742

5 SubmittersRCV000119024 RCV000255214 RCV001380728

NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)

SNV
Germline

Chr2:178546041

Pathogenic/Likely pathogenic

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Dilated cardiomyopathy 1G
Hereditary inclusion-body myopathy
Primary familial dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA358828

rs_753334568

16 SubmittersRCV000119025 RCV000684823 RCV000727672 RCV002492403 RCV003988827 RCV004586554 RCV003987364 RCV003343647

NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp)

SNV
Germline

Chr2:178545864

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA358832

rs_869320744

4 SubmittersRCV000326796 RCV001383197

NM_032237.5(POMK):c.325C>T (p.Gln109Ter)

SNV
Germline

Chr8:43122149

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Limb-girdle muscular dystrophy due to POMK deficiency

Criteria Provided
Single Submitter

CA156434

rs_587777423

2 SubmittersRCV000119846 RCV000148014

NM_012470.4(TNPO3):c.2453G>C (p.Arg818Pro)

SNV
Germline

Chr7:128970293

Pathogenic

Autosomal dominant limb-girdle muscular dystrophy type 1F

No Assertion Criteria Provided

CA163120

rs_587777431

1 SubmittersRCV000122739

NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)

SNV
Germline

Chr19:46756627

Conflicting classifications of pathogenicity

not specified
Walker-Warburg congenital muscular dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype
FKRP-related disorder

Criteria Provided
Conflicting Classifications

CA205982

rs_140679502

14 SubmittersRCV000192864 RCV000456138 RCV001093246 RCV001275320 RCV002336274 RCV004530080

NM_001267550.2(TTN):c.29079G>A (p.Ala9693=)

SNV
Germline

Chr2:178706917

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA291432

rs_372997298

17 SubmittersRCV000125736 RCV000466578 RCV001084369 RCV001133492 RCV001133488 RCV001133489 RCV001133490 RCV001133491

NM_001267550.2(TTN):c.29541C>T (p.Phe9847=)

SNV
Germline

Chr2:178705237

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA295544

rs_56812642

14 SubmittersRCV000152382 RCV000474782 RCV000769895 RCV001132472 RCV001132474 RCV001132476 RCV001132473 RCV001132475 RCV001529519 RCV004532507

NM_001267550.2(TTN):c.41330-7T>A

SNV
Germline

Chr2:178636248

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hypertrophic cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
TTN-related disorder
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA291451

rs_373636988

14 SubmittersRCV000125788 RCV000488383 RCV000852861 RCV001084338 RCV001131531 RCV001131532 RCV001131533 RCV001131534 RCV001131535 RCV001798422 RCV004532508 RCV005890881

NM_001267550.2(TTN):c.43260C>T (p.Phe14420=)

SNV
Germline

Chr2:178632746

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291452

rs_372382546

5 SubmittersRCV000125795 RCV000725645 RCV001089327 RCV001130343 RCV001130342 RCV001130345 RCV001130346 RCV001130344 RCV002399497

NM_001267550.2(TTN):c.59344+3G>A

SNV
Germline

Chr2:178592772

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Ventricular tachycardia
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA211129

rs_142095604

13 SubmittersRCV000154935 RCV000248538 RCV000264865 RCV000304853 RCV000310825 RCV000335560 RCV000359571 RCV000727110 RCV000769994 RCV000852833 RCV001080536

NM_001267550.2(TTN):c.66051G>A (p.Val22017=)

SNV
Germline

Chr2:178582405

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA291463

rs_587780981

12 SubmittersRCV000125859 RCV000726514 RCV001087910 RCV002362759 RCV003149860 RCV004532509

NM_001267550.2(TTN):c.69716-5C>G

SNV
Germline

Chr2:178576421

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Sarcoma
Ovarian serous cystadenocarcinoma
Cervical cancer
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA295531

rs_72646886

21 SubmittersRCV000152234 RCV000226852 RCV000252710 RCV000769958 RCV001080234 RCV001135371 RCV001135373 RCV001135370 RCV001135372 RCV001135374 RCV004532510 RCV005890886 RCV005890884 RCV005890885 RCV005890883 RCV005890882

NM_001267550.2(TTN):c.75738A>G (p.Glu25246=)

SNV
Germline

Chr2:178570394

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302898

rs_371344165

12 SubmittersRCV000176800 RCV000619456 RCV000768925 RCV001081896 RCV001131272 RCV001131273 RCV001131274 RCV001131275 RCV001131271 RCV003311627 RCV004734663

NM_001267550.2(TTN):c.80722A>C (p.Arg26908=)

SNV
Germline

Chr2:178565410

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291469

rs_573877174

7 SubmittersRCV000125904 RCV000468046 RCV001083608 RCV002345431

NM_001267550.2(TTN):c.83133G>A (p.Lys27711=)

SNV
Germline

Chr2:178562999

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA291472

rs_369223412

11 SubmittersRCV000125915 RCV000714101 RCV001087514 RCV002345432 RCV003486655

NM_001267550.2(TTN):c.85248A>T (p.Thr28416=)

SNV
Germline

Chr2:178560884

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA291475

rs_187180708

10 SubmittersRCV000125920 RCV000725585 RCV001079390 RCV002354317 RCV003149861

NM_001267550.2(TTN):c.91557T>C (p.Asp30519=)

SNV
Germline

Chr2:178550974

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA295739

rs_202185465

18 SubmittersRCV000154895 RCV000316581 RCV000261379 RCV000358783 RCV000301633 RCV000395547 RCV000474541 RCV000769881 RCV001083779 RCV002362760 RCV004544258

NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)

SNV
Germline

Chr2:178543289

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291485

rs_368423941

8 SubmittersRCV000125955 RCV000726232 RCV001087489 RCV002362761

NM_001267550.2(TTN):c.98892C>T (p.Pro32964=)

SNV
Germline

Chr2:178539043

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA295730

rs_374081262

14 SubmittersRCV000154881 RCV000249130 RCV000533532 RCV001129489 RCV001129487 RCV001129488 RCV001132218 RCV001132219 RCV001529852 RCV003486656

NM_001267550.2(TTN):c.104457C>T (p.Tyr34819=)

SNV
Germline

Chr2:178532158

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA291495

rs_548677252

7 SubmittersRCV000125984 RCV000726930 RCV001087731 RCV001798423 RCV002399498 RCV004734665

NM_001267550.2(TTN):c.105570A>G (p.Ser35190=)

SNV
Germline

Chr2:178531045

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291499

rs_377340289

5 SubmittersRCV000125993 RCV000866384 RCV001132213 RCV001132215 RCV001132211 RCV001132212 RCV001132214 RCV003162565

NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)

SNV
Germline

Chr2:178527729

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA295718

rs_371480338

19 SubmittersRCV000154866 RCV000293396 RCV000328511 RCV000394329 RCV000352785 RCV000382989 RCV000467771 RCV000619495 RCV000769838 RCV001079489

NM_001267550.2(TTN):c.6790+12C>T

SNV
Germline

Chr2:178774909

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA295558

rs_200187117

8 SubmittersRCV000152498 RCV000304236 RCV000334636 RCV000349481 RCV000406832 RCV000405722 RCV001705913 RCV002055618

NM_001267550.2(TTN):c.7020C>T (p.Ile2340=)

SNV
Germline

Chr2:178774244

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA291507

rs_587780986

5 SubmittersRCV000126025 RCV000724995 RCV001465849 RCV002371964

NM_001267550.2(TTN):c.8902+14T>A

SNV
Germline

Chr2:178769665

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Atrial fibrillation
Ventricular tachycardia
Congestive heart failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA232526

rs_13388274

13 SubmittersRCV000225706 RCV000300272 RCV000267488 RCV000313227 RCV000352988 RCV000393312 RCV000723790 RCV000852926 RCV002055620

NM_001267550.2(TTN):c.9402C>T (p.Asn3134=)

SNV
Germline

Chr2:178767828

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA291514

rs_587780987

5 SubmittersRCV000126038 RCV000725086 RCV001085779 RCV003162566 RCV004544259

NM_001267550.2(TTN):c.10163G>A (p.Arg3388Gln)

SNV
Germline

Chr2:178759124

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA232527

rs_187703540

9 SubmittersRCV000126046 RCV000184059 RCV000617538 RCV000852924 RCV001081931 RCV001129539 RCV001129535 RCV001129536 RCV001129537 RCV001129538 RCV003149862

NM_001267550.2(TTN):c.12307T>C (p.Leu4103=)

SNV
Germline

Chr2:178740926

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA291524

rs_587780988

4 SubmittersRCV000126087 RCV000727051 RCV001426537

NM_001267550.2(TTN):c.296-14T>C

SNV
Germline

Chr2:178800696

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA211121

rs_199951296

14 SubmittersRCV000152537 RCV000287900 RCV000302999 RCV000347569 RCV000400585 RCV000400683 RCV001528638 RCV002055622 RCV004532512 RCV004017413

NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val)

SNV
Germline

Chr2:178729077

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA295771

rs_145204073

13 SubmittersRCV000154988 RCV000266819 RCV000263263 RCV000303282 RCV000306728 RCV000357808 RCV000472153 RCV000769066

NM_001267550.2(TTN):c.21555C>A (p.Ile7185=)

SNV
Germline

Chr2:178723545

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA295759

rs_201155967

16 SubmittersRCV000154979 RCV000271009 RCV000232778 RCV000303705 RCV000307316 RCV000364338 RCV000360759 RCV000770081 RCV001081223

NM_001267550.2(TTN):c.25563C>T (p.Gly8521=)

SNV
Germline

Chr2:178717171

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA295811

rs_556205722

7 SubmittersRCV000155696 RCV000231186 RCV001812063

NM_001267550.2(TTN):c.25569C>T (p.Ala8523=)

SNV
Germline

Chr2:178717165

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA211203

rs_375022009

9 SubmittersRCV000154971 RCV000724192 RCV001089031 RCV004532513

NM_001267550.2(TTN):c.26019C>T (p.His8673=)

SNV
Germline

Chr2:178715167

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA291535

rs_370266918

7 SubmittersRCV000126158 RCV000254515 RCV000727398 RCV001084296

NM_017739.4(POMGNT1):c.-11G>A

SNV
Germline

Chr1:46197832

Conflicting classifications of pathogenicity

not specified
Congenital Muscular Dystrophy, alpha-dystroglycan related
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA292891

rs_80107141

3 SubmittersRCV000127571 RCV001097959 RCV001097960

NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)

SNV
Germline

Chr11:22262231

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA232785

rs_137854526

13 SubmittersRCV000128774 RCV000405473 RCV001814063 RCV002288618 RCV002498636 RCV002464119

NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys)

SNV
Germline

Chr11:22270431

Pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA232789

rs_137854527

6 SubmittersRCV000128776 RCV000645348 RCV006249593 RCV004998250

NM_003673.4(TCAP):c.32C>A (p.Ser11Ter)

SNV
Germline

Chr17:39665391

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2G

No Assertion Criteria Provided

CA163427

rs_45495192

1 SubmittersRCV000128799

NM_031372.4(HNRNPDL):c.1132G>A (p.Asp378Asn)

SNV
Germline

Chr4:82426523

Pathogenic/Likely pathogenic

Autosomal dominant limb-girdle muscular dystrophy type 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA170633

rs_587777669

3 SubmittersRCV000133585

NM_031372.4(HNRNPDL):c.1132G>C (p.Asp378His)

SNV
Germline

Chr4:82426523

Pathogenic/Likely pathogenic

Autosomal dominant limb-girdle muscular dystrophy type 1G
Condition: not provided
HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles

Criteria Provided
Multiple Submitters
No Conflicts

CA170634

rs_587777669

6 SubmittersRCV000133586 RCV003317098 RCV004586566

NM_001267550.2(TTN):c.50858-3C>T

SNV
Germline

Chr2:178611274

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA345902

rs_587782987

12 SubmittersRCV000143972 RCV000225702 RCV000546863 RCV000727758 RCV001130643 RCV001130639 RCV001130640 RCV001130641 RCV001130642 RCV002444595 RCV004544324

NM_001101426.4(CRPPA):c.161G>C (p.Gly54Ala)

SNV
Germline

Chr7:16421162

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2U

No Assertion Criteria Provided

CA170896

rs_587777797

1 SubmittersRCV000144515

NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)

SNV
Germline

Chr12:49185162

Pathogenic/Likely pathogenic

Lissencephaly due to TUBA1A mutation
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
Tubulinopathy
Lissencephaly

Criteria Provided
Multiple Submitters
No Conflicts

CA213256

rs_587784483

11 SubmittersRCV000147798 RCV000494633 RCV000663417 RCV000767408 RCV001291300

NM_032237.5(POMK):c.905T>A (p.Val302Asp)

SNV
Germline

Chr8:43122729

Conflicting classifications of pathogenicity

Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA173960

rs_199756983

5 SubmittersRCV000552911 RCV001818339 RCV000148016 RCV001781486

NM_000337.6(SGCD):c.226G>T (p.Gly76Cys)

SNV
Germline

Chr5:156508634

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2F
not specified

Criteria Provided
Conflicting Classifications

CA211885

rs_376659221

3 SubmittersRCV000148887 RCV006263685

NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)

SNV
Germline

Chr1:46194314

Conflicting classifications of pathogenicity

not specified
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Inborn genetic diseases
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA295419

rs_142485035

10 SubmittersRCV000150000 RCV000763935 RCV000725700 RCV001083649 RCV001333960 RCV002514874 RCV004732704

NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser)

SNV
Germline

Chr1:46196766

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA295425

rs_375420073

4 SubmittersRCV000648197 RCV000763937 RCV001272275 RCV003129788

NM_001079802.2(FKTN):c.25G>T (p.Val9Phe)

SNV
Germline

Chr9:105575057

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
Dilated cardiomyopathy 1X
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
not specified

Criteria Provided
Conflicting Classifications

CA295350

rs_145387221

11 SubmittersRCV000735003 RCV001243305 RCV002426707 RCV002483297 RCV005888293

NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser)

SNV
Germline

Chr9:105635059

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Criteria Provided
Conflicting Classifications

CA295377

rs_727502849

5 SubmittersRCV000149979 RCV001831931 RCV002492549 RCV005411356

NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)

SNV
Germline

Chr14:77286815

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Multiple Submitters
No Conflicts

CA295434

rs_727502855

7 SubmittersRCV000594145 RCV000699248 RCV001004950 RCV001731484 RCV003474801

NM_024301.5(FKRP):c.469G>C (p.Ala157Pro)

SNV
Germline

Chr19:46755919

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA295341

rs_727502842

3 SubmittersRCV003324234 RCV003466061 RCV003592021

NM_001267550.2(TTN):c.105212C>G (p.Ser35071Cys)

SNV
Germline

Chr2:178531403

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder
Gastric cancer

Criteria Provided
Conflicting Classifications

CA181087

rs_3813249

6 SubmittersRCV000154641 RCV000868561 RCV001133349 RCV001133350 RCV001133347 RCV001133348 RCV001134817 RCV001697052 RCV004534958 RCV005888484

NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala)

SNV
Germline

Chr2:178531841

Conflicting classifications of pathogenicity

not specified
Primary familial hypertrophic cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA181565

rs_201218828

16 SubmittersRCV000154870 RCV000157567 RCV000172603 RCV000248440 RCV000768824 RCV001082313 RCV001129917 RCV001134948 RCV001134949 RCV001134950 RCV001134951

NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val)

SNV
Germline

Chr2:178532354

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Hypertrophic cardiomyopathy 9
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA184841

rs_727505020

9 SubmittersRCV000156444 RCV000475607 RCV000620906 RCV001262303 RCV003137680 RCV003149957 RCV004535009

NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)

SNV
Germline

Chr2:178532615

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183120

rs_727504476

11 SubmittersRCV000155604 RCV000474904 RCV000725227 RCV000768831 RCV000764296 RCV002399551

NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr)

SNV
Germline

Chr2:178532957

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA185350

rs_727505196

8 SubmittersRCV000156687 RCV001369508 RCV001589021 RCV002390367

NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)

SNV
Germline

Chr2:178534344

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Tibial muscular dystrophy
Cardiovascular phenotype
Condition: not provided
Primary dilated cardiomyopathy
Heart failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA211232

rs_140319117

21 SubmittersRCV000119019 RCV000154875 RCV000509179 RCV000621822 RCV000713953 RCV000852776 RCV001086721 RCV001134221 RCV001134222 RCV001134223 RCV001798505 RCV004544417

NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)

SNV
Germline

Chr2:178536347

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA178384

rs_200166942

18 SubmittersRCV000152165 RCV000277427 RCV000381891 RCV000328826 RCV000324927 RCV000376472 RCV000471295 RCV000621516 RCV000724741 RCV000768836 RCV000764299

NM_001267550.2(TTN):c.99290-6G>T

SNV
Germline

Chr2:178537923

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA184776

rs_727504987

3 SubmittersRCV000156404 RCV000869431

NM_001267550.2(TTN):c.98684-10A>G

SNV
Germline

Chr2:178539261

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA184979

rs_727505072

2 SubmittersRCV000156510 RCV000964574

NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter)

SNV
Germline

Chr2:178539537

Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273569

rs_727504550

3 SubmittersRCV000155712 RCV000815550 RCV004815246

NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter)

SNV
Germline

Chr2:178539931

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA273595

rs_727504679

3 SubmittersRCV000155948 RCV001378990 RCV002362826

NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys)

SNV
Germline

Chr2:178541435

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181600

rs_377599569

6 SubmittersRCV000154884 RCV000726736 RCV000643170 RCV002372013

NM_001267550.2(TTN):c.95968G>A (p.Val31990Met)

SNV
Germline

Chr2:178544261

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA178410

rs_727503541

6 SubmittersRCV000152176 RCV000549754 RCV000619899 RCV000769874 RCV002478434

NM_001267550.2(TTN):c.95557C>T (p.Arg31853Cys)

SNV
Germline

Chr2:178545553

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178417

rs_727503542

3 SubmittersRCV000152178 RCV001134360 RCV001134362 RCV001131362 RCV001134361 RCV001134363 RCV005632257

NM_001267550.2(TTN):c.95130C>A (p.Gly31710=)

SNV
Germline

Chr2:178546106

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA184386

rs_727504857

7 SubmittersRCV000156207 RCV000727861 RCV001170764 RCV001421063 RCV002362827

NM_001267550.2(TTN):c.94863C>T (p.His31621=)

SNV
Germline

Chr2:178546468

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA295527

rs_373871146

17 SubmittersRCV000152180 RCV000246063 RCV000259872 RCV000330140 RCV000333738 RCV000384593 RCV000388220 RCV000415743 RCV001084133 RCV001171237 RCV004532689

NM_001267550.2(TTN):c.94664G>A (p.Arg31555His)

SNV
Germline

Chr2:178546764

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178427

rs_727503545

6 SubmittersRCV000152182 RCV000477611 RCV000726542

NM_001267550.2(TTN):c.93981C>G (p.Val31327=)

SNV
Germline

Chr2:178547645

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181625

rs_370894846

13 SubmittersRCV000154891 RCV000727162 RCV000768856 RCV001087854 RCV002362819

NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)

SNV
Germline

Chr2:178547823

Conflicting classifications of pathogenicity

not specified
Myopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183580

rs_200766837

14 SubmittersRCV000155821 RCV000415349 RCV000726977 RCV001086291 RCV001129491 RCV001129490 RCV001129492 RCV001129493 RCV001129494 RCV002362823 RCV003486700

NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys)

SNV
Germline

Chr2:178548846

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Primary dilated cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA185183

rs_531432790

11 SubmittersRCV000156609 RCV000643727 RCV001086729 RCV001171250 RCV001293089 RCV002362832 RCV004724938

NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln)

SNV
Germline

Chr2:178548942

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178440

rs_200141081

12 SubmittersRCV000152188 RCV000172199 RCV000269133 RCV000309213 RCV000326590 RCV000367439 RCV000402112 RCV000619946 RCV000642884 RCV001798477

NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr)

SNV
Germline

Chr2:178549332

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183087

rs_373099440

12 SubmittersRCV000155586 RCV000714119 RCV001081292 RCV002354372 RCV004534997

NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter)

SNV
Germline

Chr2:178551055

Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA273585

rs_727504646

3 SubmittersRCV000155909 RCV001040492 RCV003162636

NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp)

SNV
Germline

Chr2:178551727

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA178447

rs_199505541

8 SubmittersRCV000152190 RCV000246520 RCV000470539 RCV001130319 RCV001130320 RCV001130321 RCV001130322 RCV001130318 RCV003456357 RCV005394514

NM_001267550.2(TTN):c.90742G>A (p.Val30248Ile)

SNV
Germline

Chr2:178552158

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA184850

rs_727505024

3 SubmittersRCV000156450 RCV000544571 RCV002362831

NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met)

SNV
Germline

Chr2:178552911

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183587

rs_369855092

11 SubmittersRCV000155823 RCV000289428 RCV000344162 RCV000292921 RCV000352439 RCV000387336 RCV000643752 RCV001798515 RCV002354376 RCV004546441

NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser)

SNV
Germline

Chr2:178554127

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA181649

rs_187460377

10 SubmittersRCV000154899 RCV000618633 RCV000769893 RCV000727232 RCV001079791

NM_001267550.2(TTN):c.87137T>G (p.Met29046Arg)

SNV
Germline

Chr2:178558217

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181669

rs_143975327

10 SubmittersRCV000154905 RCV000264981 RCV000270733 RCV000389752 RCV000329578 RCV000384089 RCV000457318 RCV002354368 RCV004534969 RCV006436682

NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln)

SNV
Germline

Chr2:178560015

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA185401

rs_199788826

8 SubmittersRCV000156709 RCV000643058 RCV000768881 RCV001726012 RCV002354383

NM_001267550.2(TTN):c.85516C>A (p.Gln28506Lys)

SNV
Germline

Chr2:178560616

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181675

rs_201272728

14 SubmittersRCV000154907 RCV000543680 RCV000621827 RCV001132347 RCV001132346 RCV001132343 RCV001132344 RCV001132345 RCV001704124 RCV004534970

NM_001267550.2(TTN):c.84965G>A (p.Arg28322His)

SNV
Germline

Chr2:178561167

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181679

rs_373532064

10 SubmittersRCV000154908 RCV000172222 RCV000542158 RCV001170552 RCV002354370

NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser)

SNV
Germline

Chr2:178561734

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA184934

rs_727505053

7 SubmittersRCV000156482 RCV000459869 RCV000764308 RCV002345519 RCV003137682 RCV004535010

NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu)

SNV
Germline

Chr2:178564194

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178475

rs_199670463

10 SubmittersRCV000152203 RCV000274661 RCV000260100 RCV000332173 RCV000366979 RCV000370450 RCV000643482 RCV000768909 RCV001704096 RCV002345480 RCV004544366

NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met)

SNV
Germline

Chr2:178565274

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183467

rs_377506142

13 SubmittersRCV000155780 RCV000172245 RCV000316713 RCV000291098 RCV000330851 RCV000254311 RCV000385420 RCV000371276 RCV001078567 RCV001170788 RCV001293186

NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)

SNV
Germline

Chr2:178565431

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Primary dilated cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA248764

rs_201562505

22 SubmittersRCV000152207 RCV000273789 RCV000270152 RCV000325455 RCV000364915 RCV000369763 RCV000471832 RCV000617421 RCV000769931 RCV000852807 RCV001530137 RCV004532690

NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp)

SNV
Germline

Chr2:178566017

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA346130

rs_558830502

10 SubmittersRCV000156336 RCV000206691 RCV000336649 RCV000389979 RCV000296905 RCV000401815 RCV000303254 RCV001170791 RCV001311954 RCV002345518 RCV004544452

NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)

SNV
Germline

Chr2:178566722

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178487

rs_140942979

12 SubmittersRCV000152209 RCV000464687 RCV001528773 RCV002336300 RCV004544367

NM_001267550.2(TTN):c.78774A>G (p.Arg26258=)

SNV
Germline

Chr2:178567358

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181703

rs_368270588

8 SubmittersRCV000154914 RCV000725849 RCV001129843 RCV001129842 RCV001129844 RCV001129845 RCV001129846 RCV001426417 RCV002336325 RCV004534971

NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val)

SNV
Germline

Chr2:178607676

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178776

rs_549478203

6 SubmittersRCV000152326 RCV000250139 RCV000541819 RCV003137656

NM_001267550.2(TTN):c.51678C>T (p.Asn17226=)

SNV
Germline

Chr2:178609745

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178803

rs_372635204

8 SubmittersRCV000152336 RCV000277665 RCV000292995 RCV000332647 RCV000372898 RCV000387269 RCV000724703 RCV001082902 RCV002426725

NM_001267550.2(TTN):c.49649-11T>C

SNV
Germline

Chr2:178613083

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA183116

rs_727504474

7 SubmittersRCV000155602 RCV001697150 RCV002056092

NM_001267550.2(TTN):c.49527A>G (p.Thr16509=)

SNV
Germline

Chr2:178613756

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA185526

rs_727505248

4 SubmittersRCV000156768 RCV000725597 RCV002053894 RCV002426760

NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn)

SNV
Germline

Chr2:178616911

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178829

rs_727503622

7 SubmittersRCV000152345 RCV000277761 RCV000291298 RCV000330386 RCV000388479 RCV000343952 RCV000553961 RCV003137657 RCV002415642

NM_001267550.2(TTN):c.47380G>A (p.Val15794Ile)

SNV
Germline

Chr2:178617971

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA184456

rs_727504878

2 SubmittersRCV000156247 RCV000642984

NM_001267550.2(TTN):c.47196G>C (p.Val15732=)

SNV
Germline

Chr2:178618262

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181778

rs_369979598

6 SubmittersRCV000154938 RCV000714040 RCV001089087 RCV002415662

NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met)

SNV
Germline

Chr2:178618703

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA185646

rs_368057764

10 SubmittersRCV000156822 RCV000338432 RCV000279104 RCV000406384 RCV000312780 RCV000407419 RCV000714039 RCV001087961 RCV001798523 RCV004544459

NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)

SNV
Germline

Chr2:178621551

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA295747

rs_72677223

16 SubmittersRCV000154945 RCV000617257 RCV000725294 RCV001082787 RCV001129748 RCV001129750 RCV001129752 RCV001129749 RCV001129751 RCV001798507 RCV004544425

NM_001267550.2(TTN):c.107961T>C (p.His35987=)

SNV
Germline

Chr2:178527027

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA295714

rs_377439315

16 SubmittersRCV000154865 RCV000250627 RCV000234218 RCV000287512 RCV000361840 RCV000322761 RCV000323432 RCV000381988 RCV000769834 RCV001086128

NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg)

SNV
Germline

Chr2:178527469

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183096

rs_727504465

3 SubmittersRCV000155590 RCV001850129 RCV003441758

NM_001267550.2(TTN):c.106827T>G (p.Ile35609Met)

SNV
Germline

Chr2:178528924

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183314

rs_727504540

5 SubmittersRCV000155693 RCV000726637 RCV001087390 RCV004544442

NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe)

SNV
Germline

Chr2:178570008

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178498

rs_374494927

9 SubmittersRCV000152212 RCV000642829 RCV000727226 RCV001171265 RCV002336302

NM_001267550.2(TTN):c.75762G>T (p.Val25254=)

SNV
Germline

Chr2:178570370

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA295743

rs_374003257

13 SubmittersRCV000154918 RCV000233495 RCV001079801 RCV001131270 RCV001130538 RCV001130539 RCV001131269 RCV001130540 RCV001171266 RCV002336327

NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr)

SNV
Germline

Chr2:178572528

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA185568

rs_201804005

13 SubmittersRCV000156784 RCV000172640 RCV000284991 RCV000315675 RCV000340019 RCV000415309 RCV000379391 RCV000373849 RCV000643266 RCV002336337 RCV005394535 RCV005863006

NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn)

SNV
Germline

Chr2:178573830

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178513

rs_192962624

12 SubmittersRCV000152220 RCV000642992 RCV001133042 RCV001133041 RCV001133043 RCV001133044 RCV001136490 RCV001311958 RCV002336305 RCV004532691 RCV003486674

NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser)

SNV
Germline

Chr2:178575180

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178526

rs_149075285

12 SubmittersRCV000152226 RCV000230428 RCV000620143 RCV001132547 RCV001133458 RCV001132548 RCV001132545 RCV001132546 RCV001719940 RCV004532692

NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)

SNV
Germline

Chr2:178576001

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA185670

rs_369503828

12 SubmittersRCV000156831 RCV000282721 RCV000262898 RCV000342673 RCV000318111 RCV000371793 RCV000714084 RCV001087657 RCV001798524 RCV002326892 RCV004544460

NM_001267550.2(TTN):c.70056A>G (p.Arg23352=)

SNV
Germline

Chr2:178576076

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181731

rs_75948012

5 SubmittersRCV000154923 RCV000724396 RCV001088774 RCV002326883

NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys)

SNV
Germline

Chr2:178576279

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181734

rs_376870149

5 SubmittersRCV000154924 RCV000226257 RCV001561005 RCV002326884

NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)

SNV
Germline

Chr2:178577471

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181737

rs_201381085

15 SubmittersRCV000154925 RCV000643716 RCV000726203 RCV002326885 RCV003149945

NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)

SNV
Germline

Chr2:178578078

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA181741

rs_200797552

9 SubmittersRCV000154926 RCV000172272 RCV000261085 RCV000234385 RCV000248442 RCV000262197 RCV000316255 RCV000370118 RCV000375502

NM_001267550.2(TTN):c.68082C>T (p.Cys22694=)

SNV
Germline

Chr2:178578948

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181745

rs_79406408

8 SubmittersRCV000154927 RCV000487687 RCV001086131 RCV001131379 RCV001131378 RCV001131380 RCV001134378 RCV001134377 RCV002321642 RCV003486694

NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln)

SNV
Germline

Chr2:178579752

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178570

rs_200146608

5 SubmittersRCV000152243 RCV000552973 RCV001704098 RCV002354350

NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile)

SNV
Germline

Chr2:178581777

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178593

rs_371081043

7 SubmittersRCV000152250 RCV000229659 RCV000733490 RCV001132865 RCV001136277 RCV001132863 RCV001132864 RCV001132866 RCV002372001

NM_001267550.2(TTN):c.66160+15C>T

SNV
Germline

Chr2:178582281

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA181751

rs_377288086

6 SubmittersRCV000154929 RCV000259910 RCV000299785 RCV000333559 RCV000354765 RCV000358279 RCV002056066

NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp)

SNV
Germline

Chr2:178583057

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA178599

rs_200155485

7 SubmittersRCV000152252 RCV000172283 RCV000404677 RCV000470625 RCV000298339 RCV000312931 RCV000408391 RCV000353195

NM_001267550.2(TTN):c.63578G>A (p.Arg21193His)

SNV
Germline

Chr2:178587731

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183601

rs_372267046

8 SubmittersRCV000155828 RCV000469678 RCV001130905 RCV001130906 RCV001130907 RCV001133875 RCV001130904 RCV001293204 RCV002453519 RCV003137672

NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)

SNV
Germline

Chr2:178587968

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiomyopathy
Primary dilated cardiomyopathy
Tip-toe gait
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181764

rs_72646853

19 SubmittersRCV000154933 RCV000243930 RCV000726451 RCV001086769 RCV001133876 RCV001133878 RCV001133877 RCV001133879 RCV001133880 RCV001170815 RCV001293232 RCV001358656 RCV004544423

NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)

SNV
Germline

Chr2:178588782

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178630

rs_184863287

11 SubmittersRCV000152263 RCV000252401 RCV000725199 RCV001083795 RCV001130434 RCV001130433 RCV001130430 RCV001130431 RCV001130432 RCV001798479 RCV004544369

NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys)

SNV
Germline

Chr2:178589450

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178633

rs_562680371

7 SubmittersRCV000152264 RCV000300379 RCV000304060 RCV000339294 RCV000392749 RCV000400185 RCV000869565 RCV001704099 RCV002336306 RCV003486675

NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp)

SNV
Germline

Chr2:178590626

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183130

rs_727504479

5 SubmittersRCV000155608 RCV000536562 RCV001719976 RCV002453515

NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)

SNV
Germline

Chr2:178591978

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
Condition: not provided
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178643

rs_727503588

10 SubmittersRCV000152270 RCV000474565 RCV000618262 RCV000765563 RCV001704100 RCV003227676 RCV004786406 RCV004532695

NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met)

SNV
Germline

Chr2:178594203

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178656

rs_373527448

8 SubmittersRCV000152275 RCV000643314 RCV000723958 RCV003149926

NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)

SNV
Germline

Chr2:178597604

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA178665

rs_200778464

16 SubmittersRCV000152280 RCV000468153 RCV000726091 RCV000852836 RCV001130069 RCV001130070 RCV001130071 RCV001130072 RCV001130073

NM_001267550.2(TTN):c.56403A>G (p.Gln18801=)

SNV
Germline

Chr2:178599390

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178692

rs_553313488

7 SubmittersRCV000152293 RCV000309495 RCV000308399 RCV000347987 RCV000370125 RCV000397382 RCV000727304 RCV001081455 RCV002433657

NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)

SNV
Germline

Chr2:178600979

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181108

rs_140714512

17 SubmittersRCV000154653 RCV000172658 RCV000251794 RCV000264643 RCV000299433 RCV000298398 RCV000356712 RCV000360237 RCV000400539 RCV001085015 RCV004534960

NM_001267550.2(TTN):c.107377+14C>T

SNV
Germline

Chr2:178528260

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA181556

rs_367908657

8 SubmittersRCV000154867 RCV000305717 RCV000335428 RCV000359693 RCV000394286 RCV000400621 RCV001812132 RCV002056064

NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val)

SNV
Germline

Chr2:178528875

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181557

rs_373152640

5 SubmittersRCV000154868 RCV001136023 RCV001136025 RCV001136021 RCV001136022 RCV001136024 RCV004534966 RCV002415661 RCV005632266

NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val)

SNV
Germline

Chr2:178528931

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183576

rs_377337528

9 SubmittersRCV000155820 RCV000260975 RCV000262328 RCV000316313 RCV000322180 RCV000375521 RCV000542437 RCV000726570 RCV002415668 RCV003149949

NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr)

SNV
Germline

Chr2:178530494

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183679

rs_727504609

5 SubmittersRCV000155862 RCV000724768 RCV001085039 RCV004019866

NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg)

SNV
Germline

Chr2:178570628

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181717

rs_375204371

7 SubmittersRCV000154919 RCV000725368 RCV000768927 RCV001087044 RCV002336328

NM_001267550.2(TTN):c.74331C>T (p.Asp24777=)

SNV
Germline

Chr2:178571801

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181720

rs_368530092

5 SubmittersRCV000154920 RCV000643792 RCV000724584 RCV000769943 RCV002336329

NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)

SNV
Germline

Chr2:178573545

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181723

rs_200317412

13 SubmittersRCV000154921 RCV000621332 RCV000727739 RCV000769954 RCV001082619 RCV004534972

NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser)

SNV
Germline

Chr2:178574524

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178519

rs_727503564

5 SubmittersRCV000152222 RCV000184785 RCV000643884 RCV000617839

NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter)

SNV
Germline

Chr2:178574811

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273256

rs_727503567

4 SubmittersRCV000152227 RCV000184257 RCV003764933 RCV004724932

NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val)

SNV
Germline

Chr2:178576030

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178539

rs_367914610

11 SubmittersRCV000152232 RCV000457813 RCV000620418 RCV000768945 RCV000997409

NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)

SNV
Germline

Chr2:178576268

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178543

rs_368867993

11 SubmittersRCV000152233 RCV000723936 RCV001081781 RCV001130195 RCV001130196 RCV001130897 RCV001130898 RCV001130896 RCV002326873

NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile)

SNV
Germline

Chr2:178577664

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183458

rs_534567766

7 SubmittersRCV000155776 RCV000244691 RCV000934827 RCV001170574 RCV001288921

NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter)

SNV
Germline

Chr2:178578066

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Primary familial dilated cardiomyopathy
Cardiomyopathy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA273260

rs_371678190

7 SubmittersRCV000152238 RCV000184251 RCV000845462 RCV000769969 RCV002288662 RCV002326874 RCV002516063

NM_001267550.2(TTN):c.68208T>A (p.Val22736=)

SNV
Germline

Chr2:178578822

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178563

rs_727503575

6 SubmittersRCV000152241 RCV000727192 RCV001089296 RCV001128746 RCV001128745 RCV001128747 RCV001128743 RCV001128744 RCV002321630

NM_001267550.2(TTN):c.68097G>C (p.Gln22699His)

SNV
Germline

Chr2:178578933

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183247

rs_727504520

7 SubmittersRCV000155667 RCV000643666 RCV000714077 RCV004734735

NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=)

SNV
Germline

Chr2:178579197

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181748

rs_375538420

11 SubmittersRCV000154928 RCV000232589 RCV000298300 RCV000352280 RCV000294934 RCV000336929 RCV000392745 RCV000619951 RCV001528604

NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp)

SNV
Germline

Chr2:178579753

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178574

rs_563233842

8 SubmittersRCV000152244 RCV000172276 RCV000768948 RCV001082358 RCV002371999 RCV004532693

NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn)

SNV
Germline

Chr2:178580183

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178580

rs_727503577

9 SubmittersRCV000152246 RCV000308543 RCV000311951 RCV000365300 RCV000343431 RCV000405984 RCV000724292 RCV001406798 RCV003149925

NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr)

SNV
Germline

Chr2:178582020

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184884

rs_727505036

5 SubmittersRCV000156463 RCV000863688 RCV001507593

NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)

SNV
Germline

Chr2:178583074

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Primary dilated cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183594

rs_146941600

14 SubmittersRCV000155826 RCV000176704 RCV000252082 RCV000284877 RCV000336590 RCV000281491 RCV000372440 RCV000375751 RCV001081539 RCV001170584 RCV001293077 RCV004535001

NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu)

SNV
Germline

Chr2:178583648

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181757

rs_201662134

10 SubmittersRCV000154931 RCV000319887 RCV000293736 RCV000316262 RCV000374365 RCV000389492 RCV000620398 RCV000725861 RCV001081279 RCV001293206 RCV004534973

NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln)

SNV
Germline

Chr2:178584830

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183598

rs_188996850

9 SubmittersRCV000155827 RCV000733639 RCV002345509 RCV000476685 RCV000769975

NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys)

SNV
Germline

Chr2:178587944

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178623

rs_374727686

6 SubmittersRCV000152260 RCV000460153 RCV000724176 RCV002460047

NM_001267550.2(TTN):c.63065G>A (p.Arg21022His)

SNV
Germline

Chr2:178588660

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178627

rs_727503585

6 SubmittersRCV000152262 RCV000981791 RCV003137654 RCV002453495 RCV004734711

NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter)

SNV
Germline

Chr2:178589508

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA273264

rs_727503586

6 SubmittersRCV000152265 RCV000328776 RCV000621593 RCV000642735

NM_001267550.2(TTN):c.61992C>G (p.Asn20664Lys)

SNV
Germline

Chr2:178589733

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183604

rs_376455983

4 SubmittersRCV000155829 RCV000687436 RCV002225457 RCV002453520

NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr)

SNV
Germline

Chr2:178590436

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178640

rs_527704660

9 SubmittersRCV000152267 RCV000714063 RCV000535645 RCV001128979 RCV001128975 RCV001128976 RCV001128977 RCV001128978 RCV003486676 RCV002453496

NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met)

SNV
Germline

Chr2:178590587

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA211117

rs_201167216

15 SubmittersRCV000152268 RCV000461956 RCV000618661 RCV001085555 RCV001132661 RCV001132662 RCV001132663 RCV001132664 RCV001136052 RCV001171295 RCV004532694

NM_001267550.2(TTN):c.61029T>C (p.Phe20343=)

SNV
Germline

Chr2:178590696

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346113

rs_6706088

13 SubmittersRCV000152269 RCV000206824 RCV000252438 RCV000294997 RCV000289179 RCV000329660 RCV000333638 RCV000381251 RCV001532421

NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)

SNV
Germline

Chr2:178591882

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA185068

rs_727505101

6 SubmittersRCV000156550 RCV000620764 RCV000727465 RCV001080269

NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile)

SNV
Germline

Chr2:178592175

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181768

rs_369476725

10 SubmittersRCV000154934 RCV000643026 RCV000765564 RCV000786261 RCV001129407 RCV001129408 RCV001129409 RCV001129410 RCV001129411 RCV004734727

NM_001267550.2(TTN):c.58796C>T (p.Thr19599Ile)

SNV
Germline

Chr2:178593412

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181771

rs_367816473

4 SubmittersRCV000154936 RCV000477041 RCV001589013

NM_001267550.2(TTN):c.58653T>C (p.Ile19551=)

SNV
Germline

Chr2:178593647

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA184755

rs_727504980

5 SubmittersRCV000156395 RCV000728474 RCV001498359 RCV002321650

NM_001267550.2(TTN):c.58419A>G (p.Gln19473=)

SNV
Germline

Chr2:178593974

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183607

rs_186563991

11 SubmittersRCV000155830 RCV000272410 RCV000308825 RCV000251954 RCV000333302 RCV000357685 RCV000363270 RCV000756849 RCV001080531 RCV001798516

NM_001267550.2(TTN):c.58226G>A (p.Arg19409His)

SNV
Germline

Chr2:178594167

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178653

rs_201505306

13 SubmittersRCV000152274 RCV000172300 RCV000306594 RCV000314770 RCV000363653 RCV000366954 RCV000399359 RCV000621257 RCV001083650 RCV001170367 RCV004532696

NM_001267550.2(TTN):c.57263-4C>T

SNV
Germline

Chr2:178597823

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178678

rs_373552048

7 SubmittersRCV000152284 RCV000727743 RCV001086965 RCV002433656 RCV004544370

NM_001267550.2(TTN):c.56970T>C (p.Pro18990=)

SNV
Germline

Chr2:178598647

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA295536

rs_372019333

14 SubmittersRCV000152288 RCV000472628 RCV000617550 RCV001081047 RCV001133744 RCV001135232 RCV001135234 RCV001135231 RCV001135233 RCV001170374

NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln)

SNV
Germline

Chr2:178530896

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183238

rs_530537991

7 SubmittersRCV000155663 RCV000457467 RCV000617881 RCV001529846 RCV004534998

NM_001267550.2(TTN):c.104914G>A (p.Glu34972Lys)

SNV
Germline

Chr2:178531701

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA184576

rs_727504918

5 SubmittersRCV000156307 RCV000529644 RCV003137678 RCV002408696 RCV003486707

NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)

SNV
Germline

Chr2:178533864

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Hypertrophic cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181573

rs_56173891

19 SubmittersRCV000154873 RCV000289664 RCV000284033 RCV000342470 RCV000336674 RCV000376165 RCV000405890 RCV000617769 RCV000723860 RCV001085767 RCV001798491

NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile)

SNV
Germline

Chr2:178534095

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181577

rs_200430493

9 SubmittersRCV000154874 RCV000554691 RCV000732023 RCV002390348

NM_001267550.2(TTN):c.102024A>G (p.Leu34008=)

SNV
Germline

Chr2:178534591

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183840

rs_727504677

4 SubmittersRCV000155946 RCV000725607 RCV001473677 RCV002390361

NM_001267550.2(TTN):c.101925A>G (p.Leu33975=)

SNV
Germline

Chr2:178534690

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181580

rs_201246720

16 SubmittersRCV000154876 RCV000242624 RCV000725822 RCV001080673 RCV001128728 RCV001128730 RCV001128729 RCV001128727 RCV001131349 RCV004544418

NM_001267550.2(TTN):c.101281C>T (p.Arg33761Trp)

SNV
Germline

Chr2:178535334

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
TTN-related disorder
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA181583

rs_201421156

13 SubmittersRCV000154877 RCV000185080 RCV003486693 RCV004734726 RCV000557649 RCV000621205 RCV002498745

NM_001267550.2(TTN):c.100047A>C (p.Thr33349=)

SNV
Germline

Chr2:178537062

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183919

rs_727504698

4 SubmittersRCV000155976 RCV000642912 RCV000768839 RCV004019869

NM_001267550.2(TTN):c.99162G>A (p.Lys33054=)

SNV
Germline

Chr2:178538667

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181590

rs_368686031

14 SubmittersRCV000154880 RCV000289024 RCV000251384 RCV000347379 RCV000344022 RCV000383410 RCV000408192 RCV000725315 RCV001082468 RCV003149941

NM_001267550.2(TTN):c.98866A>G (p.Met32956Val)

SNV
Germline

Chr2:178539069

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178391

rs_727503538

9 SubmittersRCV000152169 RCV000462130 RCV000620518 RCV000764303 RCV001701771 RCV004532688

NM_001267550.2(TTN):c.98556T>C (p.Gly32852=)

SNV
Germline

Chr2:178539509

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181593

rs_373853269

11 SubmittersRCV000154882 RCV000285402 RCV000316176 RCV000319111 RCV000355714 RCV000380063 RCV000727742 RCV001085608 RCV002362816 RCV003149942

NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly)

SNV
Germline

Chr2:178539600

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178394

rs_191054704

10 SubmittersRCV000152170 RCV000727745 RCV001088064 RCV001293127 RCV002371998 RCV003486672

NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile)

SNV
Germline

Chr2:178539798

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181596

rs_199805060

15 SubmittersRCV000154883 RCV000172609 RCV000269738 RCV000296814 RCV000242078 RCV000349128 RCV000388775 RCV000327104 RCV001080422 RCV004544419

NM_001267550.2(TTN):c.97492+1G>C

SNV
Germline

Chr2:178542263

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA273675

rs_727505319

8 SubmittersRCV000156861 RCV000184284 RCV000462323 RCV000769868 RCV001788053 RCV002362834

NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys)

SNV
Germline

Chr2:178545528

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181608

rs_59148238

14 SubmittersRCV000154887 RCV000172616 RCV000852786 RCV001083749 RCV001131361 RCV001131360 RCV001131357 RCV001131358 RCV001131359 RCV002362817 RCV004544420

NM_001267550.2(TTN):c.94524T>C (p.Asp31508=)

SNV
Germline

Chr2:178546904

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA185365

rs_727505200

3 SubmittersRCV000156693 RCV005213215

NM_001267550.2(TTN):c.94045C>T (p.Arg31349Cys)

SNV
Germline

Chr2:178547581

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178433

rs_727503549

4 SubmittersRCV000152186 RCV000618452 RCV001129398 RCV001129397 RCV001129399 RCV001129395 RCV001129396 RCV003480065

NM_001267550.2(TTN):c.93972A>G (p.Glu31324=)

SNV
Germline

Chr2:178547654

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA183275

rs_727504528

6 SubmittersRCV000155678 RCV000249570 RCV000725871 RCV001081058

NM_001267550.2(TTN):c.93182G>A (p.Arg31061His)

SNV
Germline

Chr2:178548444

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA184587

rs_727504923

5 SubmittersRCV000156313 RCV000184991 RCV000643636 RCV002372023

NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile)

SNV
Germline

Chr2:178548820

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183583

rs_200476500

10 SubmittersRCV000155822 RCV000172198 RCV000286331 RCV000282938 RCV000380708 RCV000322760 RCV000377371 RCV000466689 RCV002362824 RCV005625340

NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr)

SNV
Germline

Chr2:178548930

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Cardiomyopathy
Arthrogryposis syndrome

Criteria Provided
Conflicting Classifications

CA181628

rs_373727636

12 SubmittersRCV000154892 RCV000458064 RCV000620291 RCV000725299 RCV001133267 RCV001133263 RCV001133264 RCV001133265 RCV001133266 RCV002467607 RCV003149943 RCV005621892

NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu)

SNV
Germline

Chr2:178548949

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178444

rs_370541682

6 SubmittersRCV000152189 RCV000533851 RCV002362798 RCV001559358

NM_001267550.2(TTN):c.91879A>G (p.Ile30627Val)

SNV
Germline

Chr2:178549843

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA185748

rs_535151633

3 SubmittersRCV000156873 RCV001130618 RCV001130620 RCV000727085 RCV001130619 RCV001130621 RCV001130622

NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile)

SNV
Germline

Chr2:178550106

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183824

rs_727504672

9 SubmittersRCV000155940 RCV000172202 RCV000264757 RCV000270671 RCV000322052 RCV000361658 RCV000362406 RCV000768866 RCV002362825

NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val)

SNV
Germline

Chr2:178550195

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183496

rs_553668520

9 SubmittersRCV000155789 RCV000184979 RCV000249201 RCV000769879 RCV001080345 RCV004535000

NM_001267550.2(TTN):c.90786C>T (p.Ile30262=)

SNV
Germline

Chr2:178552114

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181622

rs_727504439

4 SubmittersRCV000154890 RCV000727239 RCV001088394 RCV002362818

NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter)

SNV
Germline

Chr2:178553061

Likely pathogenic

Primary dilated cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA273662

rs_727505224

3 SubmittersRCV000156722 RCV003162647 RCV002515035

NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)

SNV
Germline

Chr2:178554093

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178450

rs_200639218

17 SubmittersRCV000152193 RCV000172210 RCV000532604 RCV000765549 RCV003149922

NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)

SNV
Germline

Chr2:178554139

Conflicting classifications of pathogenicity

not specified
Abnormality of neuronal migration
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181653

rs_200193877

10 SubmittersRCV000154900 RCV000201380 RCV000230724 RCV000621138 RCV000710279

NM_001267550.2(TTN):c.88340C>G (p.Thr29447Arg)

SNV
Germline

Chr2:178555119

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181662

rs_140201636

10 SubmittersRCV000154902 RCV000464472 RCV001136032 RCV001136034 RCV001136033 RCV001136035 RCV001136036 RCV002354367 RCV004534968 RCV006436681

NM_001267550.2(TTN):c.88306+1G>C

SNV
Germline

Chr2:178556847

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions

Criteria Provided
Conflicting Classifications

CA273251

rs_727503550

3 SubmittersRCV000152195 RCV001850077 RCV005410888

NM_001267550.2(TTN):c.87878G>A (p.Arg29293His)

SNV
Germline

Chr2:178557384

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA181666

rs_202001776

7 SubmittersRCV000154903 RCV000622203 RCV000727801 RCV000643154

NM_001267550.2(TTN):c.87111G>A (p.Glu29037=)

SNV
Germline

Chr2:178558348

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA295821

rs_374902148

10 SubmittersRCV000155824 RCV000768875 RCV000862693 RCV002262759 RCV002354377

NM_001267550.2(TTN):c.86700C>T (p.Asn28900=)

SNV
Germline

Chr2:178559432

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA184210

rs_727504793

7 SubmittersRCV000156119 RCV000727138 RCV001086613 RCV002354380

NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr)

SNV
Germline

Chr2:178560129

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181672

rs_374022393

8 SubmittersRCV000154906 RCV000477626 RCV000733310 RCV000768882 RCV002354369

NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln)

SNV
Germline

Chr2:178561239

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181682

rs_187270666

13 SubmittersRCV000154909 RCV000472564 RCV000617218 RCV000769915 RCV001134828 RCV001134829 RCV001133355 RCV001134826 RCV001134827 RCV001528765 RCV004544421

NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val)

SNV
Germline

Chr2:178561984

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181685

rs_201348580

11 SubmittersRCV000154910 RCV000172226 RCV000225816 RCV000295690 RCV000299304 RCV000348240 RCV000356815 RCV000404249 RCV002345503

NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser)

SNV
Germline

Chr2:178563322

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181694

rs_199929362

10 SubmittersRCV000154912 RCV000172232 RCV000260853 RCV000391203 RCV000314942 RCV000297223 RCV000346437 RCV000619231 RCV001082864 RCV003149944

NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)

SNV
Germline

Chr2:178564811

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA273651

rs_557312035

8 SubmittersRCV000209674 RCV000642760 RCV002223189 RCV002345521 RCV003149958 RCV002492596

NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu)

SNV
Germline

Chr2:178565188

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA185794

rs_200406978

10 SubmittersRCV000156898 RCV000172243 RCV000349857 RCV000364729 RCV000310296 RCV000313729 RCV000400261 RCV000769929 RCV001086890 RCV002345526 RCV004544461

NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter)

SNV
Germline

Chr2:178565416

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273669

rs_727505284

6 SubmittersRCV000156813 RCV000261915 RCV000642734 RCV002345525 RCV004535017

NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)

SNV
Germline

Chr2:178567277

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178495

rs_139953862

18 SubmittersRCV000152211 RCV000299956 RCV000287130 RCV000345493 RCV000339540 RCV000379204 RCV000725001 RCV001079314 RCV002336301 RCV003149924

NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)

SNV
Germline

Chr2:178607633

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178772

rs_200387466

9 SubmittersRCV000152325 RCV000727183 RCV001087840 RCV001170609 RCV002453499 RCV004544372

NM_001267550.2(TTN):c.52406-6T>A

SNV
Germline

Chr2:178608483

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA184132

rs_727504767

2 SubmittersRCV000156079 RCV001435686

NM_001267550.2(TTN):c.51739+1G>C

SNV
Germline

Chr2:178609683

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA273614

rs_727504799

6 SubmittersRCV000156125 RCV000770016 RCV002426753 RCV002516148 RCV003229813 RCV004786413

NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)

SNV
Germline

Chr2:178611515

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
TTN-related disorder
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178813

rs_191539637

22 SubmittersRCV000152339 RCV000172664 RCV000276790 RCV000328242 RCV000331815 RCV000367766 RCV000382730 RCV000622012 RCV001086129 RCV001837462 RCV004544373 RCV006555499

NM_001267550.2(TTN):c.50480G>A (p.Arg16827Gln)

SNV
Germline

Chr2:178611829

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178820

rs_138896856

5 SubmittersRCV000152342 RCV000532690 RCV000836249 RCV001130784 RCV001133746 RCV001133747 RCV001130783 RCV001133745

NM_001267550.2(TTN):c.50249-15T>G

SNV
Germline

Chr2:178612177

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA184032

rs_727504732

2 SubmittersRCV000156027 RCV003764962

NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly)

SNV
Germline

Chr2:178615748

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183909

rs_376273101

12 SubmittersRCV000155973 RCV000172667 RCV000242630 RCV001085935 RCV001128852 RCV001128853 RCV001135859 RCV001135860 RCV001135861 RCV004535005

NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg)

SNV
Germline

Chr2:178617228

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA183614

rs_371943746

9 SubmittersRCV000155832 RCV000471687 RCV000618664 RCV000725815 RCV001136068 RCV001132677 RCV001132678 RCV001132679 RCV001132680

NM_001267550.2(TTN):c.46928A>G (p.His15643Arg)

SNV
Germline

Chr2:178618622

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181794

rs_368502650

9 SubmittersRCV000154943 RCV000205370 RCV001719966 RCV002415664 RCV004534974

NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)

SNV
Germline

Chr2:178622684

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Congenital myopathy

Criteria Provided
Conflicting Classifications

CA185817

rs_727505350

7 SubmittersRCV000156906 RCV000620569 RCV000705371 RCV000725890 RCV004764904 RCV005625342

NM_001267550.2(TTN):c.44589G>A (p.Thr14863=)

SNV
Germline

Chr2:178624691

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181807

rs_369800903

10 SubmittersRCV000154948 RCV000725872 RCV001087758 RCV002408690 RCV003149946 RCV004534975

NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)

SNV
Germline

Chr2:178630241

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181813

rs_192766485

23 SubmittersRCV000154951 RCV000209622 RCV000415667 RCV000415702 RCV000621229 RCV000725365 RCV000769013 RCV001085058 RCV001130087 RCV001130088 RCV001130785 RCV001130089

NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter)

SNV
Germline

Chr2:178632294

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273562

rs_727504499

4 SubmittersRCV000155637 RCV001216159 RCV002399552 RCV004700482

NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=)

SNV
Germline

Chr2:178633295

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181817

rs_369959066

11 SubmittersRCV000154952 RCV000253166 RCV000228754 RCV001134012 RCV001134011 RCV001134013 RCV001135518 RCV001135519 RCV001171015 RCV001719967

NM_001267550.2(TTN):c.42891C>T (p.Gly14297=)

SNV
Germline

Chr2:178633468

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184077

rs_550471556

5 SubmittersRCV000156052 RCV000285996 RCV000346971 RCV000456625 RCV000292039 RCV000341059 RCV000401479 RCV000617426 RCV005003502

NM_001267550.2(TTN):c.42056G>A (p.Arg14019His)

SNV
Germline

Chr2:178634818

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183622

rs_374683153

5 SubmittersRCV000155835 RCV000463510 RCV001697117

NM_001267550.2(TTN):c.41958A>G (p.Ala13986=)

SNV
Germline

Chr2:178635231

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA295755

rs_186699871

11 SubmittersRCV000154953 RCV000245212 RCV000269359 RCV000308082 RCV000309522 RCV000366575 RCV000369715 RCV000845346 RCV001079462

NM_001267550.2(TTN):c.41166C>T (p.Asp13722=)

SNV
Germline

Chr2:178636561

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181820

rs_143049740

12 SubmittersRCV000154954 RCV000864708 RCV001131536 RCV001131538 RCV001134530 RCV001131537 RCV001134531 RCV001727605 RCV002390342

NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr)

SNV
Germline

Chr2:178637393

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178861

rs_191699632

8 SubmittersRCV000152356 RCV000556771 RCV001719941 RCV002381478

NM_001267550.2(TTN):c.40502G>A (p.Arg13501His)

SNV
Germline

Chr2:178642293

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178865

rs_571348685

8 SubmittersRCV000152357 RCV000725706 RCV001089127 RCV002381479 RCV004734713

NM_001267550.2(TTN):c.40335C>T (p.Leu13445=)

SNV
Germline

Chr2:178645993

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183913

rs_727504696

3 SubmittersRCV000155974 RCV000643260 RCV000770048

NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val)

SNV
Germline

Chr2:178650771

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178871

rs_148140756

10 SubmittersRCV000152359 RCV000172670 RCV001086600 RCV001129205 RCV001131897 RCV001129202 RCV001129203 RCV001129204 RCV003486680

NM_001267550.2(TTN):c.39578A>G (p.Glu13193Gly)

SNV
Germline

Chr2:178651290

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178875

rs_190461403

4 SubmittersRCV000152360 RCV000228409 RCV001704102

NM_001267550.2(TTN):c.39430G>A (p.Val13144Ile)

SNV
Germline

Chr2:178651699

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181830

rs_374394719

6 SubmittersRCV000154957 RCV000531792 RCV001589014 RCV003149947

NM_001267550.2(TTN):c.39276G>A (p.Pro13092=)

SNV
Germline

Chr2:178652115

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181834

rs_369002632

5 SubmittersRCV000154959 RCV000473560 RCV003884366 RCV004534976

NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr)

SNV
Germline

Chr2:178659037

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178887

rs_72650057

6 SubmittersRCV000152365 RCV000458579 RCV000725663 RCV004734714

NM_001267550.2(TTN):c.34709-1G>A

SNV
Germline

Chr2:178673711

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Primary familial dilated cardiomyopathy
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178899

rs_727503634

6 SubmittersRCV000152369 RCV000477440 RCV005632259 RCV005237587 RCV005860015 RCV005628232

NM_001267550.2(TTN):c.33838C>T (p.Pro11280Ser)

SNV
Germline

Chr2:178678486

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183625

rs_374449452

9 SubmittersRCV000155836 RCV000725087 RCV001084589 RCV003486701 RCV004734738

NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp)

SNV
Germline

Chr2:178682838

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA181838

rs_201991864

8 SubmittersRCV000154961 RCV000172363 RCV000643341 RCV000770064 RCV001130350 RCV001130352 RCV001130349 RCV001130351 RCV001135400

NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu)

SNV
Germline

Chr2:178684711

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181841

rs_150733188

14 SubmittersRCV000154962 RCV000206371 RCV000244036 RCV001135639 RCV001135637 RCV001135638 RCV001134139 RCV001134140 RCV001531333 RCV004544427

NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr)

SNV
Germline

Chr2:178689077

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA181845

rs_371452173

7 SubmittersRCV000154963 RCV000724173 RCV001087214

NM_001267550.2(TTN):c.31071C>T (p.His10357=)

SNV
Germline

Chr2:178696001

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178917

rs_368973334

10 SubmittersRCV000152378 RCV000460828 RCV000726543 RCV003149930 RCV004532700

NM_001267550.2(TTN):c.30857T>C (p.Ile10286Thr)

SNV
Germline

Chr2:178696215

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181851

rs_369094355

7 SubmittersRCV000154965 RCV000643366 RCV000724537

NM_001267550.2(TTN):c.28187C>T (p.Pro9396Leu)

SNV
Germline

Chr2:178710910

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181861

rs_373065549

7 SubmittersRCV000154968 RCV000556673 RCV000769901 RCV001719968

NM_001267550.2(TTN):c.28093C>T (p.Arg9365Trp)

SNV
Germline

Chr2:178711143

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178940

rs_190600127

6 SubmittersRCV000152388 RCV000643023 RCV000769903 RCV001804863

NM_001267550.2(TTN):c.26928G>A (p.Leu8976=)

SNV
Germline

Chr2:178713206

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA181854

rs_370973715

6 SubmittersRCV000154966 RCV000725629 RCV001470069

NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser)

SNV
Germline

Chr2:178713316

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181869

rs_201005813

11 SubmittersRCV000154970 RCV000172685 RCV001083461 RCV001131297 RCV001131296 RCV001130564 RCV001131298 RCV001131299 RCV004544428

NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)

SNV
Germline

Chr2:178714164

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder
Limb-girdle muscular dystrophy
Distal myopathy

Criteria Provided
Conflicting Classifications

CA181096

rs_72648989

18 SubmittersRCV000154645 RCV000172380 RCV001083732 RCV001131545 RCV001131544 RCV001131546 RCV001131542 RCV001131543 RCV001170862 RCV004534959 RCV005625334 RCV005625335

NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)

SNV
Germline

Chr2:178718042

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178960

rs_201571580

19 SubmittersRCV000152396 RCV000172688 RCV000246789 RCV001079307 RCV001132154 RCV001133076 RCV001132152 RCV001132153 RCV001133075 RCV002225086 RCV003486682

NM_001267550.2(TTN):c.24622G>A (p.Glu8208Lys)

SNV
Germline

Chr2:178718484

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181873

rs_190192954

5 SubmittersRCV000154972 RCV000531149 RCV001704126

NM_001267550.2(TTN):c.24385G>T (p.Glu8129Ter)

SNV
Germline

Chr2:178718815

Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA273620

rs_727504843

2 SubmittersRCV000156186 RCV001054543

NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys)

SNV
Germline

Chr2:178719425

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Conflicting Classifications

CA181876

rs_201653851

8 SubmittersRCV000154973 RCV000287568 RCV000326198 RCV000327268 RCV000384268 RCV000387819 RCV000725482 RCV001084561 RCV005394524

NM_001267550.2(TTN):c.23067C>T (p.Asp7689=)

SNV
Germline

Chr2:178720952

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181883

rs_191854953

4 SubmittersRCV000154975 RCV000725008 RCV001442541 RCV004734729

NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg)

SNV
Germline

Chr2:178720990

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178971

rs_367826445

12 SubmittersRCV000152399 RCV000172690 RCV000247819 RCV000261369 RCV000273970 RCV000316577 RCV000369809 RCV000368549 RCV001085387 RCV004532701

NM_001267550.2(TTN):c.22240+7A>C

SNV
Germline

Chr2:178722652

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181887

rs_368101794

7 SubmittersRCV000154977 RCV000869214 RCV001134293 RCV001134289 RCV001134290 RCV001134291 RCV001134292 RCV001529553

NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)

SNV
Germline

Chr2:178723552

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathy
TTN-related disorder
Skeletal dysplasia

Criteria Provided
Conflicting Classifications

CA181891

rs_189951108

18 SubmittersRCV000154980 RCV000172692 RCV000473052 RCV000852895 RCV001170082 RCV004534978 RCV005625336

NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)

SNV
Germline

Chr2:178724111

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA295767

rs_202089818

12 SubmittersRCV000154983 RCV000312387 RCV000392004 RCV000343275 RCV000365169 RCV000402063 RCV000725719 RCV001081065 RCV001170085

NM_001267550.2(TTN):c.20169C>T (p.Ala6723=)

SNV
Germline

Chr2:178727196

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184160

rs_727504776

4 SubmittersRCV000156093 RCV001498761 RCV003137675

NM_001267550.2(TTN):c.19426+2T>A

SNV
Germline

Chr2:178728498

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA185292

rs_727505178

6 SubmittersRCV000156661 RCV000729690 RCV002222411 RCV003989334 RCV003764978

NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys)

SNV
Germline

Chr2:178729022

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA181908

rs_192553687

10 SubmittersRCV000154987 RCV000232825 RCV000724663 RCV001132363 RCV001129645 RCV001129646 RCV001129647 RCV001132364

NM_001267550.2(TTN):c.18307+12A>G

SNV
Germline

Chr2:178730081

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA181919

rs_376899412

4 SubmittersRCV000154991 RCV001133633 RCV001133635 RCV001133637 RCV001133634 RCV001133636 RCV001719969 RCV002056068

NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val)

SNV
Germline

Chr2:178730727

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181923

rs_72648945

8 SubmittersRCV000154993 RCV000468325 RCV000727723

NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)

SNV
Germline

Chr2:178731122

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiomyopathy
Primary dilated cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183639

rs_185962498

14 SubmittersRCV000155840 RCV000179198 RCV001084052 RCV001133776 RCV001135264 RCV001133777 RCV001135263 RCV001135265 RCV001170644 RCV001293083 RCV004535002

NM_001267550.2(TTN):c.16863G>A (p.Glu5621=)

SNV
Germline

Chr2:178732106

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181927

rs_727504441

5 SubmittersRCV000154994 RCV000643826 RCV000770095 RCV001131068 RCV001131070 RCV001131069 RCV001131071 RCV001131067 RCV004546440

NM_001267550.2(TTN):c.16091G>A (p.Arg5364His)

SNV
Germline

Chr2:178733085

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181933

rs_200941841

8 SubmittersRCV000154996 RCV000725276 RCV001087743 RCV003486696

NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser)

SNV
Germline

Chr2:178738151

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA179001

rs_727503652

9 SubmittersRCV000152410 RCV000560224 RCV000725300 RCV002381481 RCV003486683

NM_001267550.2(TTN):c.13884C>T (p.Ser4628=)

SNV
Germline

Chr2:178739349

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA183643

rs_183328495

8 SubmittersRCV000155841 RCV000617889 RCV000727231 RCV000770104 RCV001086967 RCV004544444

NM_001267550.2(TTN):c.13782G>A (p.Gln4594=)

SNV
Germline

Chr2:178739451

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179010

rs_188071134

7 SubmittersRCV000152413 RCV000643700 RCV000770105 RCV001569296 RCV002444630

NM_001267550.2(TTN):c.13265T>G (p.Ile4422Ser)

SNV
Germline

Chr2:178739968

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179023

rs_727503656

3 SubmittersRCV000152417 RCV000545106 RCV003884364

NM_001267550.2(TTN):c.12889T>G (p.Cys4297Gly)

SNV
Germline

Chr2:178740344

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179026

rs_377063950

5 SubmittersRCV000152418 RCV000643407 RCV001358499 RCV002326875

NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)

SNV
Germline

Chr2:178740485

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Primary dilated cardiomyopathy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181936

rs_201437752

19 SubmittersRCV000154998 RCV000172703 RCV000621842 RCV000852922 RCV001085765 RCV001798510

NM_001267550.2(TTN):c.43138T>C (p.Cys14380Arg)

SNV
Germline

Chr2:178632993

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA184461

rs_557125278

6 SubmittersRCV000156249 RCV000862712 RCV001697085 RCV004544451

NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg)

SNV
Germline

Chr2:178636754

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181823

rs_184713215

9 SubmittersRCV000154955 RCV000252544 RCV000467649 RCV001134532 RCV001135955 RCV001135956 RCV001135958 RCV001135957 RCV001697149 RCV001798508

NM_001267550.2(TTN):c.40877-7A>G

SNV
Germline

Chr2:178637426

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA185368

rs_727505201

4 SubmittersRCV000156694 RCV000938441 RCV001657892

NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)

SNV
Germline

Chr2:178651534

Conflicting classifications of pathogenicity

not specified
Primary familial hypertrophic cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Supraventricular tachycardia
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181826

rs_72650064

19 SubmittersRCV000154956 RCV000157561 RCV000243216 RCV000724471 RCV000852863 RCV001080889 RCV001131898 RCV001131899 RCV001132870 RCV001132871 RCV001132872 RCV001798509 RCV004544426

NM_001267550.2(TTN):c.39044-9T>A

SNV
Germline

Chr2:178652550

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178886

rs_184888200

15 SubmittersRCV000152364 RCV000209245 RCV000725316 RCV001082467 RCV001132138 RCV001132140 RCV001132139 RCV001132141 RCV001132137 RCV003149928

NM_001267550.2(TTN):c.34894C>A (p.Leu11632Ile)

SNV
Germline

Chr2:178672443

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA178893

rs_727503633

3 SubmittersRCV000152367 RCV003149929 RCV005625326

NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser)

SNV
Germline

Chr2:178678777

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA178903

rs_201120871

12 SubmittersRCV000152371 RCV000515098 RCV000551047 RCV001134980 RCV001134982 RCV001134978 RCV001134979 RCV001134981

NM_001267550.2(TTN):c.33173-4G>A

SNV
Germline

Chr2:178681454

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181837

rs_727504440

8 SubmittersRCV000154960 RCV000642861 RCV001130216 RCV001135257 RCV001135256 RCV001135258 RCV001135259 RCV001528514

NM_001267550.2(TTN):c.32095+1G>A

SNV
Germline

Chr2:178689052

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA273278

rs_727503636

6 SubmittersRCV000184202 RCV000727053 RCV001078609 RCV004532699

NM_001267550.2(TTN):c.32035G>A (p.Val10679Ile)

SNV
Germline

Chr2:178689113

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181848

rs_369932282

5 SubmittersRCV000154964 RCV001134394 RCV001134396 RCV000829061 RCV001134395 RCV001134397 RCV001134393 RCV004734728

NM_001267550.2(TTN):c.31762+4C>T

SNV
Germline

Chr2:178692012

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178916

rs_368538884

4 SubmittersRCV000152377 RCV000541029 RCV001798483

NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val)

SNV
Germline

Chr2:178709578

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Supraventricular tachycardia
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181857

rs_371826762

12 SubmittersRCV000154967 RCV000464747 RCV000660516 RCV000725082 RCV000852883 RCV001130652 RCV001130653 RCV001129954 RCV001130654 RCV004534977

NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile)

SNV
Germline

Chr2:178709812

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178930

rs_202160275

11 SubmittersRCV000152385 RCV000172372 RCV000242706 RCV000268918 RCV000265162 RCV000320266 RCV000328537 RCV000363523 RCV001085700 RCV001170857

NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln)

SNV
Germline

Chr2:178711142

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA183901

rs_570608843

7 SubmittersRCV000155971 RCV001558815 RCV000461125 RCV003991467

NM_001267550.2(TTN):c.27015T>C (p.Gly9005=)

SNV
Germline

Chr2:178713119

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178946

rs_727503643

4 SubmittersRCV000152390 RCV001135641 RCV001135643 RCV001135644 RCV001135640 RCV001135642 RCV001429065 RCV003884363

NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys)

SNV
Germline

Chr2:178713241

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184422

rs_200325324

8 SubmittersRCV000156230 RCV000157558 RCV000555729 RCV001544671

NM_001267550.2(TTN):c.26694G>T (p.Gly8898=)

SNV
Germline

Chr2:178713964

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178949

rs_199525540

12 SubmittersRCV000152391 RCV000472215 RCV001134285 RCV001135764 RCV001134286 RCV001135762 RCV001135763 RCV001726004

NM_001267550.2(TTN):c.26055C>T (p.Ser8685=)

SNV
Germline

Chr2:178715131

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA185534

rs_727505250

4 SubmittersRCV000156771 RCV000643019 RCV000769049

NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser)

SNV
Germline

Chr2:178717748

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tip-toe gait
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183632

rs_375209098

9 SubmittersRCV000155838 RCV000526343 RCV000725209 RCV001132969 RCV001132970 RCV001132968 RCV001136399 RCV001132967 RCV002221205 RCV003149951

NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)

SNV
Germline

Chr2:178718054

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178964

rs_200103997

17 SubmittersRCV000152397 RCV000172383 RCV000284465 RCV000346191 RCV000345184 RCV000376603 RCV000391562 RCV001086487 RCV003149931 RCV004544374

NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met)

SNV
Germline

Chr2:178719315

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA183635

rs_371496970

9 SubmittersRCV000155839 RCV000643751 RCV001134862 RCV001134864 RCV001134863 RCV001134865 RCV001134861 RCV004546442 RCV005888550

NM_001267550.2(TTN):c.23925C>T (p.Ser7975=)

SNV
Germline

Chr2:178719567

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181880

rs_374879942

7 SubmittersRCV000154974 RCV000476615 RCV001840155 RCV001840157 RCV001840156 RCV001840158 RCV003137671

NM_001267550.2(TTN):c.23538C>T (p.Phe7846=)

SNV
Germline

Chr2:178720104

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183290

rs_149523263

7 SubmittersRCV000155684 RCV000865581 RCV001133628 RCV001133627 RCV001130664 RCV001130665 RCV001130666 RCV001589019

NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr)

SNV
Germline

Chr2:178720996

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA184389

rs_552951988

10 SubmittersRCV000156208 RCV000248812 RCV000713993 RCV001083518 RCV001130359 RCV001130360 RCV001135405 RCV001135407 RCV001135406 RCV003486706

NM_001267550.2(TTN):c.22817-15T>G

SNV
Germline

Chr2:178721217

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA184289

rs_727504821

2 SubmittersRCV000156160 RCV002056114

NM_001267550.2(TTN):c.22241-14A>G

SNV
Germline

Chr2:178722560

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA181886

rs_371352901

2 SubmittersRCV000154976 RCV003764948

NM_001267550.2(TTN):c.21157A>C (p.Thr7053Pro)

SNV
Germline

Chr2:178724102

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA184055

rs_727504741

2 SubmittersRCV000156039 RCV001131670 RCV001128995 RCV001131667 RCV001131668 RCV001131669

NM_001267550.2(TTN):c.21003A>G (p.Lys7001=)

SNV
Germline

Chr2:178724372

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA183411

rs_727504579

3 SubmittersRCV000155751 RCV000642848 RCV000725659

NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser)

SNV
Germline

Chr2:178725461

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181898

rs_201728165

7 SubmittersRCV000154984 RCV000730570 RCV001085049 RCV004534979

NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr)

SNV
Germline

Chr2:178728975

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA181905

rs_188878341

7 SubmittersRCV000154986 RCV000726949 RCV001087945

NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu)

SNV
Germline

Chr2:178729928

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181915

rs_73973139

15 SubmittersRCV000154990 RCV000172696 RCV000852904 RCV001081353 RCV001130672 RCV001130673 RCV001133630 RCV001133631 RCV001133632 RCV004544429

NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg)

SNV
Germline

Chr2:178730715

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA181920

rs_374882815

11 SubmittersRCV000154992 RCV000228841 RCV000247714 RCV000713979 RCV001353378

NM_001267550.2(TTN):c.15497-8T>C

SNV
Germline

Chr2:178733900

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA184824

rs_727505010

2 SubmittersRCV000156433 RCV001456018

NM_001267550.2(TTN):c.14697C>T (p.Ser4899=)

SNV
Germline

Chr2:178735749

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA178994

rs_372740215

8 SubmittersRCV000152408 RCV000527685 RCV001087802 RCV001131920 RCV001131922 RCV001129225 RCV001131921 RCV001131923

NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys)

SNV
Germline

Chr2:178738144

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
6 conditions
Cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA178997

rs_371552518

13 SubmittersRCV000152409 RCV000473338 RCV000726956 RCV002381480 RCV002505157 RCV003149932 RCV003327374

NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr)

SNV
Germline

Chr2:178739713

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA183646

rs_191968963

9 SubmittersRCV000155842 RCV000732240 RCV001085994 RCV002381498 RCV003486702

NM_001267550.2(TTN):c.13282G>A (p.Glu4428Lys)

SNV
Germline

Chr2:178739951

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179016

rs_528766978

5 SubmittersRCV000152415 RCV000465956 RCV000770107 RCV001538746 RCV002362801

NM_001267550.2(TTN):c.11910A>T (p.Thr3970=)

SNV
Germline

Chr2:178741323

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179042

rs_727503660

6 SubmittersRCV000152425 RCV000727474 RCV001397430 RCV002426726

NM_001267550.2(TTN):c.11254+2T>C

SNV
Germline

Chr2:178756220

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA181959

rs_199565715

8 SubmittersRCV000155005 RCV000713962 RCV002516117 RCV004544430

NM_001267550.2(TTN):c.10104T>G (p.Val3368=)

SNV
Germline

Chr2:178764187

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA346125

rs_142460433

12 SubmittersRCV000155007 RCV000617999 RCV000713948 RCV001084308 RCV001134667 RCV001134668 RCV001133203 RCV001133204 RCV001133205 RCV004544431

NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile)

SNV
Germline

Chr2:178764267

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA179186

rs_727503679

4 SubmittersRCV000152476 RCV000347185 RCV000377566 RCV000322923 RCV000286556 RCV000383088 RCV003137659 RCV001798485

NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met)

SNV
Germline

Chr2:178764631

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179196

rs_191708454

5 SubmittersRCV000152478 RCV000540226 RCV001293078 RCV001719943

NM_001267550.2(TTN):c.9485A>G (p.Gln3162Arg)

SNV
Germline

Chr2:178766599

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179217

rs_727503681

6 SubmittersRCV000152482 RCV000861721 RCV001134878 RCV001134874 RCV001134875 RCV001134876 RCV001134877 RCV001171058 RCV004544380

NM_001267550.2(TTN):c.8589A>G (p.Glu2863=)

SNV
Germline

Chr2:178770112

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179245

rs_72647883

11 SubmittersRCV000152489 RCV000464622 RCV001130107 RCV001130108 RCV001130104 RCV001130105 RCV001130106 RCV001170099 RCV001531512 RCV002408676

NM_001267550.2(TTN):c.8314G>A (p.Val2772Met)

SNV
Germline

Chr2:178770478

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA181974

rs_143035953

13 SubmittersRCV000155010 RCV000172725 RCV000620190 RCV001086015 RCV001133785 RCV001135271 RCV001133784 RCV001133783 RCV001135272

NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter)

SNV
Germline

Chr2:178773322

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179261

rs_727503688

3 SubmittersRCV000152492 RCV001326015 RCV004544381

NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)

SNV
Germline

Chr2:178774108

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179276

rs_145039979

10 SubmittersRCV000152495 RCV000185187 RCV000229239 RCV001293099 RCV001798486 RCV002372004 RCV004734716

NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)

SNV
Germline

Chr2:178776491

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179302

rs_727503693

5 SubmittersRCV000152501 RCV000548358 RCV000724889 RCV002336307

NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)

SNV
Germline

Chr2:178777292

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179317

rs_139192633

10 SubmittersRCV000152504 RCV000232506 RCV000621269 RCV001704105 RCV004544382

NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)

SNV
Germline

Chr2:178777788

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179328

rs_151310601

18 SubmittersRCV000152506 RCV000230032 RCV000172729 RCV000769129 RCV000852937 RCV001131924 RCV001131925 RCV001131926 RCV001132893 RCV001132892 RCV002326877

NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp)

SNV
Germline

Chr2:178777923

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181985

rs_144672482

5 SubmittersRCV000155012 RCV000643286 RCV001704127

NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter)

SNV
Germline

Chr2:178779055

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA273280

rs_727503697

3 SubmittersRCV000152508 RCV001359440 RCV002354352

NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala)

SNV
Germline

Chr2:178780124

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179349

rs_150667217

12 SubmittersRCV000152511 RCV000172730 RCV000476516 RCV001133206 RCV001133207 RCV001133209 RCV001133208 RCV001133210 RCV001798487 RCV002460048

NM_001267550.2(TTN):c.2396C>T (p.Thr799Met)

SNV
Germline

Chr2:178785717

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182001

rs_149061352

7 SubmittersRCV000155015 RCV000550907 RCV001293183 RCV002444639 RCV000727539

NM_001267550.2(TTN):c.2264C>T (p.Ser755Leu)

SNV
Germline

Chr2:178785954

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179386

rs_533384820

8 SubmittersRCV000152520 RCV000869244 RCV001697080 RCV001798488 RCV001840122 RCV001840119 RCV001840120 RCV001840121 RCV002415644 RCV004734717

NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter)

SNV
Germline

Chr2:178786081

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA185609

rs_727505277

5 SubmittersRCV000156806 RCV001039267 RCV001331619 RCV002415679 RCV003152593 RCV004719719

NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu)

SNV
Germline

Chr2:178790766

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA179396

rs_199778910

8 SubmittersRCV000152522 RCV000643740 RCV000726122 RCV001130242 RCV001130244 RCV001130245 RCV001130241 RCV001130243

NM_001267550.2(TTN):c.1398+4C>T

SNV
Germline

Chr2:178794395

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA179423

rs_368548209

10 SubmittersRCV000152529 RCV000280402 RCV000279380 RCV000337828 RCV000400060 RCV000408421 RCV000725255 RCV002390332 RCV003149933 RCV005863003

NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr)

SNV
Germline

Chr2:178794464

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA182011

rs_142414432

11 SubmittersRCV000155017 RCV000232642 RCV000619102 RCV000724953 RCV001131195 RCV001131197 RCV001131198 RCV001131199 RCV001131196

NM_001267550.2(TTN):c.1246-5T>C

SNV
Germline

Chr2:178794556

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA179429

rs_727503707

3 SubmittersRCV000152531 RCV002390333 RCV003764936

NM_001267550.2(TTN):c.1208G>C (p.Ser403Thr)

SNV
Germline

Chr2:178794959

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA185027

rs_727505091

3 SubmittersRCV000156534 RCV000643144 RCV002345520

NM_001267550.2(TTN):c.1002C>T (p.Thr334=)

SNV
Germline

Chr2:178795165

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA346116

rs_148094198

13 SubmittersRCV000152534 RCV000287830 RCV000332417 RCV000347502 RCV000389385 RCV000382294 RCV000713945 RCV001083824 RCV002390334 RCV004544384

NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala)

SNV
Germline

Chr2:178757842

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179177

rs_201735487

6 SubmittersRCV000152474 RCV000468123 RCV001840113 RCV001840111 RCV001840112 RCV001840114 RCV006450030

NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile)

SNV
Germline

Chr2:178764245

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA179180

rs_727503678

8 SubmittersRCV000152475 RCV000185219 RCV000458217 RCV002381482 RCV002483322

NM_001267550.2(TTN):c.9908C>T (p.Pro3303Leu)

SNV
Germline

Chr2:178764607

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179191

rs_201379132

6 SubmittersRCV000152477 RCV000874941 RCV003137660

NM_001267550.2(TTN):c.9811T>G (p.Ser3271Ala)

SNV
Germline

Chr2:178764704

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179212

rs_556720151

3 SubmittersRCV000152481 RCV000643842 RCV002372002

NM_001267550.2(TTN):c.9488G>A (p.Arg3163His)

SNV
Germline

Chr2:178766596

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA179222

rs_149755500

13 SubmittersRCV000152483 RCV000172724 RCV000460977 RCV000617183 RCV001171057

NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)

SNV
Germline

Chr2:178771258

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA179255

rs_374620001

13 SubmittersRCV000152491 RCV000280983 RCV000296370 RCV000326911 RCV000349014 RCV000388430 RCV000534706 RCV001310766 RCV002415643 RCV003486685

NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met)

SNV
Germline

Chr2:178776666

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179307

rs_367700246

9 SubmittersRCV000152502 RCV000252820 RCV000308535 RCV000302656 RCV000337667 RCV000362079 RCV000404360 RCV000471450 RCV003137662 RCV004532709

NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr)

SNV
Germline

Chr2:178778929

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181990

rs_140760859

10 SubmittersRCV000155013 RCV000172478 RCV000464939 RCV000769134 RCV002354371

NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)

SNV
Germline

Chr2:178779279

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179339

rs_199889888

10 SubmittersRCV000152509 RCV000643675 RCV000725635 RCV000770150 RCV002345483

NM_001267550.2(TTN):c.1834A>G (p.Lys612Glu)

SNV
Germline

Chr2:178790082

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA185553

rs_727505256

5 SubmittersRCV000156779 RCV000863658 RCV001447793

NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr)

SNV
Germline

Chr2:178792149

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA182006

rs_143030869

9 SubmittersRCV000155016 RCV000172492 RCV000266151 RCV000300150 RCV000305734 RCV000345372 RCV000358208 RCV000643424 RCV002399548

NM_001267550.2(TTN):c.1449C>T (p.Ala483=)

SNV
Germline

Chr2:178793491

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179412

rs_141617218

10 SubmittersRCV000152526 RCV000727211 RCV001454113 RCV002390330 RCV004532710

NM_001267550.2(TTN):c.1398+5G>A

SNV
Germline

Chr2:178794394

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA179422

rs_542965530

10 SubmittersRCV000152528 RCV000725264 RCV001087826 RCV001798489 RCV002390331

NM_001267550.2(TTN):c.1213G>A (p.Ala405Thr)

SNV
Germline

Chr2:178794954

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179430

rs_112266780

5 SubmittersRCV000152532 RCV000467044 RCV001531517 RCV002354353 RCV004544383

NM_001267550.2(TTN):c.1068G>A (p.Glu356=)

SNV
Germline

Chr2:178795099

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA179435

rs_144716589

13 SubmittersRCV000152533 RCV000290052 RCV000295842 RCV000316504 RCV000373503 RCV000398298 RCV000530911 RCV000769140 RCV001726005 RCV002408678 RCV004734718

NM_001267550.2(TTN):c.687T>C (p.Phe229=)

SNV
Germline

Chr2:178799714

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA295779

rs_376527094

16 SubmittersRCV000155018 RCV000726123 RCV001083173 RCV001135891 RCV001135893 RCV001135890 RCV001135892 RCV001135894 RCV002372014 RCV004544432

NM_001267550.2(TTN):c.156C>T (p.Pro52=)

SNV
Germline

Chr2:178802277

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA295560

rs_72647842

10 SubmittersRCV000152539 RCV000726251 RCV000769150 RCV001085381 RCV002399534

NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala)

SNV
Germline

Chr2:178601712

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178711

rs_727503600

9 SubmittersRCV000152300 RCV000533354 RCV000727413 RCV000768986 RCV005025229 RCV002433661

NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys)

SNV
Germline

Chr2:178601784

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178718

rs_201510986

9 SubmittersRCV000152302 RCV000469348 RCV001528481 RCV002433663

NM_001267550.2(TTN):c.54207A>G (p.Pro18069=)

SNV
Germline

Chr2:178604882

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178730

rs_372686070

9 SubmittersRCV000152309 RCV000619968 RCV000725193 RCV001078725 RCV001798481

NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu)

SNV
Germline

Chr2:178605017

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178736

rs_200968679

12 SubmittersRCV000152311 RCV000643272 RCV000725049 RCV001131770 RCV001131767 RCV001131768 RCV001131769 RCV001129100 RCV002453497 RCV003149927

NM_001267550.2(TTN):c.53807G>A (p.Arg17936His)

SNV
Germline

Chr2:178605488

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA178743

rs_727503604

7 SubmittersRCV000152313 RCV000462180 RCV000618978 RCV000726541

NM_001267550.2(TTN):c.55800G>A (p.Trp18600Ter)

SNV
Germline

Chr2:178601104

Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA273267

rs_727503598

2 SubmittersRCV000152296 RCV005222775

NM_001267550.2(TTN):c.55673G>A (p.Arg18558His)

SNV
Germline

Chr2:178601324

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178702

rs_115867512

10 SubmittersRCV000152297 RCV000226098 RCV000835240 RCV002433659

NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)

SNV
Germline

Chr2:178601716

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178714

rs_200550947

12 SubmittersRCV000152301 RCV000172660 RCV000476468 RCV001798480 RCV002433662

NM_001267550.2(TTN):c.54903C>G (p.Gly18301=)

SNV
Germline

Chr2:178602499

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178721

rs_190830121

18 SubmittersRCV000152303 RCV000231621 RCV000243957 RCV001093062 RCV001131388 RCV001170601 RCV001131389 RCV001131390 RCV001131391 RCV001131392 RCV004528878

NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter)

SNV
Germline

Chr2:178604049

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA273270

rs_727503602

4 SubmittersRCV000152307 RCV001378774 RCV002433665 RCV002483316

NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile)

SNV
Germline

Chr2:178604999

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Ventricular tachycardia
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA178733

rs_190574498

13 SubmittersRCV000152310 RCV000532070 RCV000730160 RCV000852518 RCV001129097 RCV001129099 RCV001129095 RCV001129096 RCV001129098 RCV002426723 RCV003486678 RCV004532697

NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln)

SNV
Germline

Chr2:178605109

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA178740

rs_727503603

8 SubmittersRCV000152312 RCV000553364 RCV000714052 RCV001170605

NM_001267550.2(TTN):c.53903G>A (p.Arg17968His)

SNV
Germline

Chr2:178605274

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA178750

rs_200100660

8 SubmittersRCV000152315 RCV000539449 RCV000727083 RCV001798482 RCV002483317 RCV002433666

NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter)

SNV
Germline

Chr2:178605642

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Primary familial dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA273273

rs_727503607

8 SubmittersRCV000152318 RCV000184237 RCV000622986 RCV000684992 RCV002453498 RCV003486679

NM_000337.6(SGCD):c.45T>A (p.Pro15=)

SNV
Germline

Chr5:156344530

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA185035

rs_727505092

5 SubmittersRCV000156536 RCV000732544 RCV001411707 RCV004965286

NM_000337.6(SGCD):c.193-12G>T

SNV
Germline

Chr5:156508589

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1L
Autosomal recessive limb-girdle muscular dystrophy type 2F
Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Conflicting Classifications

CA177976

rs_727503421

5 SubmittersRCV000151870 RCV000667337 RCV002056005

NM_000337.6(SGCD):c.394G>A (p.Val132Ile)

SNV
Germline

Chr5:156594943

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2F
Dilated cardiomyopathy 1L
Autosomal recessive limb-girdle muscular dystrophy type 2F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA180989

rs_367819390

6 SubmittersRCV000154571 RCV000671469 RCV000559296 RCV000724393

NM_000337.6(SGCD):c.-59G>A

SNV
Germline

Chr5:156327217

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2F
Dilated cardiomyopathy 1L
not specified
Dilated cardiomyopathy 1L
Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Conflicting Classifications

CA181131

rs_375477247

4 SubmittersRCV000669755 RCV000154667 RCV003233121 RCV003233120

NM_000337.6(SGCD):c.-44+11G>A

SNV
Germline

Chr5:156327243

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2F
Dilated cardiomyopathy 1L
not specified
Qualitative or quantitative defects of delta-sarcoglycan

Criteria Provided
Conflicting Classifications

CA183561

rs_184722381

4 SubmittersRCV000665825 RCV000155814 RCV001153631

NM_000337.6(SGCD):c.4-12C>T

SNV
Germline

Chr5:156344477

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1L
Autosomal recessive limb-girdle muscular dystrophy type 2F
Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Conflicting Classifications

CA183416

rs_727504580

3 SubmittersRCV000155753 RCV000668303 RCV002056102

NM_000337.6(SGCD):c.294+1G>A

SNV
Germline

Chr5:156508703

Likely pathogenic

Neuromuscular disease
Dilated cardiomyopathy 1L
Autosomal recessive limb-girdle muscular dystrophy type 2F
Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Multiple Submitters
No Conflicts

CA346112

rs_727503422

4 SubmittersRCV000151871 RCV000673416 RCV003233116

NM_000337.6(SGCD):c.383-11A>T

SNV
Germline

Chr5:156594921

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Conflicting Classifications

CA183421

rs_727504584

3 SubmittersRCV000155757 RCV003619651

NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)

SNV
Germline

Chr17:39665391

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy 25
Primary familial hypertrophic cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2G
Hypertrophic cardiomyopathy 25
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181033

rs_45495192

14 SubmittersRCV000154598 RCV000232686 RCV000248260 RCV000770524 RCV001126347 RCV001126346 RCV001529978

NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter)

SNV
Germline

Chr2:178532523

Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA235027

rs_727504184

8 SubmittersRCV000177503 RCV000209465 RCV002399536 RCV003764942 RCV005025234 RCV005250024

NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr)

SNV
Germline

Chr2:178542865

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA235042

rs_201023432

8 SubmittersRCV000154036 RCV000233400 RCV002362807 RCV002483330 RCV003488402

NM_201384.3(PLEC):c.7753G>C (p.Glu2585Gln)

SNV
Germline

Chr8:143922068

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA234643

rs_200488179

6 SubmittersRCV000710177 RCV001079339 RCV004737237

NM_000070.3(CAPN3):c.1354G>T (p.Asp452Tyr)

SNV
Germline

Chr15:42399652

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA233619

rs_727503838

3 SubmittersRCV000152923 RCV005089741

NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln)

SNV
Germline

Chr2:178590169

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235093

rs_727504191

5 SubmittersRCV000154061 RCV000723796 RCV001131520 RCV001131518 RCV001131519 RCV001131521 RCV001134510 RCV002453505

NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)

SNV
Germline

Chr2:178636764

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA235126

rs_727504198

7 SubmittersRCV000560235 RCV000618763 RCV000760496 RCV003453148

NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)

SNV
Germline

Chr15:42402956

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
CAPN3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA233622

rs_727503839

9 SubmittersRCV000174442 RCV000790649 RCV003114302 RCV003474805 RCV004532716

NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)

SNV
Germline

Chr19:46756523

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy
Cardiovascular phenotype
FKRP-related disorder
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Conflicting Classifications

CA234007

rs_143031195

14 SubmittersRCV000473789 RCV000657079 RCV001336093 RCV001838983 RCV002288663 RCV002298484 RCV002415648 RCV004734719 RCV005359326

NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile)

SNV
Germline

Chr2:178635975

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA235123

rs_375474669

8 SubmittersRCV000464514 RCV000710276 RCV001798493 RCV000621883 RCV005406851

NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)

SNV
Germline

Chr2:71600831

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy
DYSF-related disorder

Reviewed By Expert Panel

CA233937

rs_727503911

14 SubmittersRCV000323235 RCV000984259 RCV000809801 RCV003467211 RCV002492572 RCV005252773 RCV003917498

NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)

SNV
Germline

Chr9:105604256

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Walker-Warburg congenital muscular dystrophy
Dilated cardiomyopathy 1X
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Dilated cardiomyopathy 1X

Criteria Provided
Multiple Submitters
No Conflicts

CA233995

rs_537001725

9 SubmittersRCV000153239 RCV000984176 RCV001068213 RCV002492573 RCV003474809

NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)

SNV
Germline

Chr15:42401754

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
CAPN3-related disorder
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA233621

rs_141656719

23 SubmittersRCV000152924 RCV000173975 RCV000762950 RCV001332159 RCV001813761 RCV003987377

NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)

SNV
Germline

Chr19:46756190

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
FKRP-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA234005

rs_528000488

12 SubmittersRCV000711665 RCV001079526 RCV001275315 RCV002381484 RCV003225033 RCV004544393 RCV006268632

NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln)

SNV
Germline

Chr1:46192147

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Retinal dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76

Criteria Provided
Conflicting Classifications

CA234712

rs_573518562

6 SubmittersRCV000153761 RCV000622475 RCV002516092 RCV002516093 RCV003888594 RCV005025233

NM_001267550.2(TTN):c.97055G>A (p.Arg32352His)

SNV
Germline

Chr2:178542799

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235039

rs_575939045

8 SubmittersRCV000154035 RCV000460324 RCV000723859 RCV002372006

NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys)

SNV
Germline

Chr2:178565578

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA295646

rs_185887755

9 SubmittersRCV000259093 RCV000723773 RCV001132949 RCV001132946 RCV001132947 RCV001132948 RCV001132950 RCV002345491 RCV003764943 RCV004734722

NM_000023.4(SGCA):c.739G>A (p.Val247Met)

SNV
Germline

Chr17:50169246

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided
Sarcoglycanopathy
See cases
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA203189

rs_143570936

22 SubmittersRCV000179241 RCV000710212 RCV000779226 RCV002252007 RCV002271422

NM_001077365.2(POMT1):c.1488C>T (p.Ser496=)

SNV
Germline

Chr9:131519390

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Conflicting Classifications

CA233764

rs_727503872

3 SubmittersRCV000153047 RCV000362995 RCV001850088

NM_013382.7(POMT2):c.1683T>C (p.Asn561=)

SNV
Germline

Chr14:77280434

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA233769

rs_146307965

6 SubmittersRCV000153054 RCV000712835 RCV001085592 RCV001119000

NM_001130987.2(DYSF):c.1134T>C (p.Pro378=)

SNV
Germline

Chr2:71520889

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA233928

rs_571559303

7 SubmittersRCV000153174 RCV000878829 RCV001826823 RCV003422044

NM_001130987.2(DYSF):c.2334C>T (p.Leu778=)

SNV
Germline

Chr2:71561869

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA179985

rs_116204385

7 SubmittersRCV000153175 RCV000876464 RCV001704108 RCV001831950

NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)

SNV
Germline

Chr2:71568318

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA233931

rs_727503910

8 SubmittersRCV000153178 RCV000668306 RCV003329115 RCV003462058 RCV005055626

NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=)

SNV
Germline

Chr2:71574236

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA233933

rs_150355624

4 SubmittersRCV000249417 RCV000723785 RCV001086229 RCV001272827

NM_001130987.2(DYSF):c.5642+1G>A

SNV
Germline

Chr2:71669208

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA233946

rs_727503915

5 SubmittersRCV000407918 RCV000648019 RCV002469027 RCV003467212 RCV005025232

NM_201384.3(PLEC):c.12858G>A (p.Thr4286=)

SNV
Germline

Chr8:143916963

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA234598

rs_782480281

2 SubmittersRCV000153731 RCV001850103

NM_201384.3(PLEC):c.10359G>A (p.Lys3453=)

SNV
Germline

Chr8:143919462

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA234625

rs_782140099

3 SubmittersRCV000153734 RCV001393749 RCV004532731

NM_201384.3(PLEC):c.7830G>A (p.Ala2610=)

SNV
Germline

Chr8:143921991

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA234634

rs_376112916

7 SubmittersRCV000712761 RCV001087716 RCV004544402

NM_201384.3(PLEC):c.4218G>A (p.Glu1406=)

SNV
Germline

Chr8:143925711

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA234661

rs_782584192

3 SubmittersRCV000153740 RCV000723925 RCV001505852

NM_201384.3(PLEC):c.2478C>T (p.Asp826=)

SNV
Germline

Chr8:143930278

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
not specified

Criteria Provided
Conflicting Classifications

CA234688

rs_202135215

7 SubmittersRCV000725198 RCV001083079 RCV005431497

NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=)

SNV
Germline

Chr1:46189522

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA234708

rs_367848204

4 SubmittersRCV000153759 RCV001083116 RCV001826827 RCV004532732

NM_001267550.2(TTN):c.105876G>A (p.Leu35292=)

SNV
Germline

Chr2:178530739

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235024

rs_372521529

7 SubmittersRCV000215889 RCV000723770 RCV001086310 RCV001170282 RCV002408683

NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)

SNV
Germline

Chr2:178533511

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235030

rs_371535721

8 SubmittersRCV000222566 RCV000725626 RCV001086398 RCV002390341

NM_001267550.2(TTN):c.86025G>A (p.Pro28675=)

SNV
Germline

Chr2:178560107

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA235054

rs_369528150

7 SubmittersRCV000617188 RCV000723788 RCV001085457 RCV005404273

NM_001267550.2(TTN):c.80553C>T (p.Phe26851=)

SNV
Germline

Chr2:178565579

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype
TTN-related disorder
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA235060

rs_189790119

8 SubmittersRCV000154046 RCV000305658 RCV000309303 RCV000360503 RCV000364029 RCV000393864 RCV002345492 RCV004734723 RCV006555502

NM_001267550.2(TTN):c.77052C>T (p.Gly25684=)

SNV
Germline

Chr2:178569080

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235063

rs_372543652

12 SubmittersRCV000154049 RCV000723926 RCV001080765 RCV001798492 RCV002336313

NM_001267550.2(TTN):c.72552C>T (p.Val24184=)

SNV
Germline

Chr2:178573580

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235077

rs_727504187

3 SubmittersRCV000154054 RCV003764944 RCV004992025

NM_001267550.2(TTN):c.67637-4A>G

SNV
Germline

Chr2:178579397

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235083

rs_376053678

4 SubmittersRCV000245132 RCV000723876 RCV001087495 RCV002321632

NM_001267550.2(TTN):c.66123A>G (p.Pro22041=)

SNV
Germline

Chr2:178582333

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235090

rs_727504190

5 SubmittersRCV000154060 RCV000723921 RCV001084773 RCV002354361

NM_001267550.2(TTN):c.46899G>A (p.Gly15633=)

SNV
Germline

Chr2:178618651

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235111

rs_727504195

3 SubmittersRCV000154069 RCV000539478 RCV002415651

NM_001267550.2(TTN):c.43623G>A (p.Ser14541=)

SNV
Germline

Chr2:178632271

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235120

rs_369434563

4 SubmittersRCV000154072 RCV001079098 RCV002399537

NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys)

SNV
Germline

Chr2:178718115

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA235147

rs_727504205

4 SubmittersRCV000154088 RCV000680135 RCV000812622

NM_001267550.2(TTN):c.19158A>G (p.Gln6386=)

SNV
Germline

Chr2:178728768

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA235150

rs_727504206

2 SubmittersRCV000154090 RCV003764945

NM_001267550.2(TTN):c.17346C>T (p.Asn5782=)

SNV
Germline

Chr2:178731420

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA235153

rs_535281449

3 SubmittersRCV000154092 RCV001078810

NM_001267550.2(TTN):c.5196A>C (p.Pro1732=)

SNV
Germline

Chr2:178776668

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235170

rs_142262519

3 SubmittersRCV000154098 RCV001089298 RCV003162626

NM_001267550.2(TTN):c.2784A>G (p.Glu928=)

SNV
Germline

Chr2:178783777

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA235180

rs_727504211

2 SubmittersRCV000154102 RCV003764946

NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)

SNV
Germline

Chr2:178579702

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
6 conditions
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Centronuclear myopathy
Feingold syndrome type 1
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA346762

rs_574660186

15 SubmittersRCV000157564 RCV000255593 RCV000680139 RCV000684782 RCV002354385 RCV004586577 RCV004813064 RCV004764905

NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr)

SNV
Germline

Chr2:178620299

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309865

rs_730880239

4 SubmittersRCV000157555 RCV000184542 RCV000643915 RCV003137688

NM_001267550.2(TTN):c.41609-2A>C

SNV
Germline

Chr2:178635717

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA346771

rs_730880244

4 SubmittersRCV000157572 RCV000468208 RCV002492614 RCV005298452

NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys)

SNV
Germline

Chr2:178684074

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA309012

rs_199620003

7 SubmittersRCV000157559 RCV000184135 RCV000477233 RCV004544462

NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys)

SNV
Germline

Chr2:178713285

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
Condition: not provided
Tibial muscular dystrophy
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA302499

rs_199557654

11 SubmittersRCV000157556 RCV000172379 RCV000377872 RCV000222353 RCV000265600 RCV000379882 RCV000322987 RCV000335757 RCV000476275

NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)

SNV
Germline

Chr17:50167644

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA199069

rs_757888349

6 SubmittersRCV000169146 RCV003330528

NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)

SNV
Germline

Chr17:50168005

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA199048

rs_768814872

11 SubmittersRCV000169036 RCV000724041

NM_001267550.2(TTN):c.107255G>A (p.Arg35752His)

SNV
Germline

Chr2:178528396

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA236074

rs_760107623

4 SubmittersRCV000171307 RCV000643000 RCV004734768

NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter)

SNV
Germline

Chr2:178542441

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA236076

rs_767837705

3 SubmittersRCV000171309 RCV001852065 RCV002362874

NM_001267550.2(TTN):c.90223C>T (p.Gln30075Ter)

SNV
Germline

Chr2:178552677

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA236082

rs_786205538

2 SubmittersRCV000171312 RCV003765071

NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp)

SNV
Germline

Chr2:178582086

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA236091

rs_571093313

6 SubmittersRCV000171317 RCV000303449 RCV000340260 RCV000343261 RCV000288338 RCV000406446 RCV000544634 RCV001293233 RCV003137700

NM_001267550.2(TTN):c.32470+3A>G

SNV
Germline

Chr2:178685250

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA236099

rs_786205543

2 SubmittersRCV000171321 RCV005213219

NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)

SNV
Germline

Chr2:178774305

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA236104

rs_374615369

7 SubmittersRCV000171324 RCV000473786 RCV001253714 RCV002362875 RCV002498857 RCV006452474

NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val)

SNV
Germline

Chr2:178528421

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA237590

rs_142336788

9 SubmittersRCV000172143 RCV000516530 RCV000642924 RCV002415733 RCV004734771

NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)

SNV
Germline

Chr2:178528662

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA237596

rs_199531140

12 SubmittersRCV000172145 RCV000220851 RCV001079372 RCV001134481 RCV001134482 RCV001134483 RCV001135937 RCV001135938 RCV002415734 RCV004539582

NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)

SNV
Germline

Chr2:178529076

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related myopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302594

rs_199632397

15 SubmittersRCV000172600 RCV000246902 RCV000222652 RCV000266285 RCV000301237 RCV000266936 RCV000321269 RCV000380571 RCV000469383 RCV000769843 RCV001563645 RCV004535177

NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln)

SNV
Germline

Chr2:178530272

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA302375

rs_369703073

5 SubmittersRCV000172148 RCV001132849 RCV001132848 RCV001132850 RCV001132847 RCV001136253 RCV001347072

NM_001267550.2(TTN):c.105490C>T (p.Arg35164Cys)

SNV
Germline

Chr2:178531125

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA302379

rs_200123047

6 SubmittersRCV000172150 RCV000412707 RCV000459823 RCV001129589 RCV001129591 RCV001129593 RCV001129590 RCV001129592

NM_001267550.2(TTN):c.105128G>A (p.Arg35043His)

SNV
Germline

Chr2:178531487

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Tip-toe gait
not specified

Criteria Provided
Conflicting Classifications

CA302383

rs_370137295

8 SubmittersRCV000534990 RCV000619680 RCV000172152 RCV001353379 RCV000286045

NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys)

SNV
Germline

Chr2:178532979

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA237620

rs_777626473

7 SubmittersRCV000172158 RCV000530822 RCV001358750

NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln)

SNV
Germline

Chr2:178533203

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA237623

rs_149391616

12 SubmittersRCV000172159 RCV000729500 RCV001084327 RCV001133963 RCV001133964 RCV001133965 RCV001133966 RCV001131016 RCV004535168

NM_001267550.2(TTN):c.102827G>A (p.Arg34276Gln)

SNV
Germline

Chr2:178533788

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA237626

rs_199932621

4 SubmittersRCV000172160 RCV001338738 RCV005404315

NM_001267550.2(TTN):c.102275G>A (p.Arg34092His)

SNV
Germline

Chr2:178534340

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA237632

rs_757918924

12 SubmittersRCV000172163 RCV000642952 RCV002390414 RCV003479042

NM_001267550.2(TTN):c.101708G>A (p.Arg33903His)

SNV
Germline

Chr2:178534907

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA237635

rs_72629782

6 SubmittersRCV000172164 RCV001087093 RCV003319184 RCV004539583

NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys)

SNV
Germline

Chr2:178535633

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA237647

rs_201857158

9 SubmittersRCV000172168 RCV000244016 RCV000578003 RCV000600352 RCV000577929 RCV000578083 RCV001078580 RCV004535169

NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr)

SNV
Germline

Chr2:178536521

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302391

rs_201112096

10 SubmittersRCV000172170 RCV000311753 RCV000315180 RCV000270805 RCV000362844 RCV000403284 RCV000517499 RCV001087486 RCV002381562

NM_001267550.2(TTN):c.98893G>C (p.Asp32965His)

SNV
Germline

Chr2:178539042

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA302399

rs_186405108

9 SubmittersRCV000172176 RCV000204075 RCV000619992 RCV001804904 RCV003150038

NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)

SNV
Germline

Chr2:178539424

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA237665

rs_367979582

12 SubmittersRCV000172178 RCV000213432 RCV000278672 RCV000343230 RCV000393696 RCV000527211 RCV000339727 RCV000284749 RCV002362883 RCV004535170

NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys)

SNV
Germline

Chr2:178539565

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA238450

rs_199761901

9 SubmittersRCV000172608 RCV001079964 RCV001798621 RCV002372079 RCV005404327

NM_001267550.2(TTN):c.97538G>A (p.Arg32513His)

SNV
Germline

Chr2:178541539

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA302598

rs_201080904

18 SubmittersRCV000172612 RCV000220575 RCV000247259 RCV000469734 RCV000769867 RCV001133580 RCV001133581 RCV001135067 RCV001135068 RCV001135069

NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro)

SNV
Germline

Chr2:178542425

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
not specified
Lung cancer

Criteria Provided
Conflicting Classifications

CA302407

rs_184922462

10 SubmittersRCV000172182 RCV001087902 RCV001130177 RCV001130176 RCV001130178 RCV001135208 RCV001135209 RCV002362884 RCV003226236 RCV005889678

NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu)

SNV
Germline

Chr2:178545916

Conflicting classifications of pathogenicity

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA302411

rs_762265902

8 SubmittersRCV000172186 RCV000365968 RCV000308968 RCV000399987 RCV000469609 RCV000389961 RCV000286462 RCV004535171 RCV002307433

NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile)

SNV
Germline

Chr2:178547610

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Congenital portosystemic shunt

Criteria Provided
Conflicting Classifications

CA237695

rs_184078016

7 SubmittersRCV000172192 RCV000435407 RCV000620023 RCV001132113 RCV001133035 RCV001132111 RCV001133036 RCV001083580 RCV001132112 RCV006634299

NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)

SNV
Germline

Chr2:178548621

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA302602

rs_180975448

19 SubmittersRCV000172619 RCV000213505 RCV000244689 RCV001080503 RCV001129598 RCV001129600 RCV001129597 RCV001129599 RCV001132342 RCV001171247

NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr)

SNV
Germline

Chr2:178549713

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
not specified
Amyloidosis, hereditary systemic 1
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237707

rs_369342933

11 SubmittersRCV000172201 RCV000326514 RCV000272895 RCV000286593 RCV000378832 RCV000383680 RCV000610659 RCV000852790 RCV001086287 RCV001798611 RCV002354433

NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)

SNV
Germline

Chr2:178553192

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Ventricular fibrillation
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
TTN-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA302419

rs_72648240

12 SubmittersRCV000172206 RCV000317539 RCV000852797 RCV001083916 RCV001130534 RCV001130536 RCV001130533 RCV001130535 RCV001130537 RCV002362885 RCV004539584 RCV005396510

NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)

SNV
Germline

Chr2:178553691

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiomyopathy
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA237722

rs_200503016

18 SubmittersRCV000172209 RCV000242895 RCV000499612 RCV000528669 RCV000765548 RCV001798612 RCV003335176

NM_001267550.2(TTN):c.88733G>A (p.Arg29578His)

SNV
Germline

Chr2:178554614

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302606

rs_374147064

9 SubmittersRCV000172623 RCV001082027 RCV001293122 RCV002354443

NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val)

SNV
Germline

Chr2:178556869

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237731

rs_373738818

7 SubmittersRCV000172213 RCV000477224 RCV001129068 RCV001129069 RCV001129070 RCV002271446 RCV001129072 RCV001129071 RCV002354436

NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile)

SNV
Germline

Chr2:178558524

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302422

rs_201687390

9 SubmittersRCV000172216 RCV000268777 RCV000221192 RCV000308739 RCV000274973 RCV000363372 RCV000333135 RCV001086505 RCV002354437 RCV004539585

NM_001267550.2(TTN):c.86654G>A (p.Arg28885His)

SNV
Germline

Chr2:178559478

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237743

rs_371539720

5 SubmittersRCV000172220 RCV000230659 RCV001136481 RCV001129497 RCV001136482 RCV001136483 RCV001129498 RCV002354438

NM_001267550.2(TTN):c.85651C>A (p.Pro28551Thr)

SNV
Germline

Chr2:178560481

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA238468

rs_142478636

8 SubmittersRCV000172627 RCV000604152 RCV001083852 RCV001129601 RCV001129602 RCV001129603 RCV001129604 RCV001129605 RCV002354445 RCV004734774

NM_001267550.2(TTN):c.85624A>G (p.Ile28542Val)

SNV
Germline

Chr2:178560508

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA237746

rs_554841820

5 SubmittersRCV000172221 RCV000465020 RCV005404316

NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys)

SNV
Germline

Chr2:178561261

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302426

rs_192152102

13 SubmittersRCV000172223 RCV000302023 RCV000271594 RCV000277611 RCV000308136 RCV000346588 RCV000362784 RCV001082315 RCV001170553 RCV002354439 RCV004539586

NM_001267550.2(TTN):c.83063G>A (p.Arg27688His)

SNV
Germline

Chr2:178563069

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302430

rs_185002960

18 SubmittersRCV000172231 RCV000222897 RCV000277111 RCV000271952 RCV000366922 RCV000312262 RCV000366443 RCV001085618 RCV001170784 RCV002345589 RCV004539587

NM_001267550.2(TTN):c.82688G>A (p.Arg27563His)

SNV
Germline

Chr2:178563444

Conflicting classifications of pathogenicity

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237761

rs_118079537

7 SubmittersRCV000172233 RCV000295809 RCV000332094 RCV000328290 RCV000387397 RCV000372796 RCV001086678 RCV002345590

NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys)

SNV
Germline

Chr2:178563897

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA302434

rs_201489661

10 SubmittersRCV000172237 RCV000294267 RCV000259150 RCV000351562 RCV000386155 RCV000296920 RCV000335482 RCV001085422 RCV002345592 RCV003150040

NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn)

SNV
Germline

Chr2:178564240

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA238471

rs_200697681

15 SubmittersRCV000172630 RCV000768911 RCV001088746 RCV001128964 RCV001128965 RCV001128966 RCV001135948 RCV001135949 RCV002345597 RCV004734775 RCV005404328

NM_001267550.2(TTN):c.80555G>A (p.Arg26852His)

SNV
Germline

Chr2:178565577

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302441

rs_202149931

13 SubmittersRCV000172246 RCV000545122 RCV002345594 RCV002500449 RCV004725021

NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys)

SNV
Germline

Chr2:178566270

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200073

rs_3731746

7 SubmittersRCV000172788 RCV001133153 RCV001133154 RCV001133155 RCV001133156 RCV000643377 RCV001133152 RCV001697169

NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly)

SNV
Germline

Chr2:178568916

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA302610

rs_56391938

12 SubmittersRCV000172634 RCV000213073 RCV001171262 RCV001086328 RCV002345598 RCV002225090

NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn)

SNV
Germline

Chr2:178569145

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302614

rs_143186270

10 SubmittersRCV000172635 RCV000260684 RCV000249719 RCV001080773 RCV004734776

NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys)

SNV
Germline

Chr2:178569393

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302618

rs_56372592

12 SubmittersRCV000172636 RCV000214788 RCV000467029 RCV001135366 RCV001135365 RCV001135367 RCV001135368 RCV001135369 RCV001798622 RCV002336416

NM_001267550.2(TTN):c.74504A>G (p.Tyr24835Cys)

SNV
Germline

Chr2:178571628

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA238483

rs_201724962

3 SubmittersRCV000172639 RCV000457657 RCV003226237

NM_001267550.2(TTN):c.72803G>A (p.Arg24268His)

SNV
Germline

Chr2:178573329

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA237818

rs_140018785

6 SubmittersRCV000172260 RCV001083382 RCV001132951 RCV001132000 RCV001132001 RCV001132002 RCV001132003 RCV002336413 RCV002281995

NM_001267550.2(TTN):c.72180A>G (p.Thr24060=)

SNV
Germline

Chr2:178573952

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA237827

rs_786205320

2 SubmittersRCV000172263 RCV003765081

NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)

SNV
Germline

Chr2:178573986

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Ventricular tachycardia
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA302449

rs_56399205

15 SubmittersRCV000172264 RCV000282942 RCV000288822 RCV000248880 RCV000259146 RCV000379211 RCV000347355 RCV000404979 RCV000769955 RCV000852813 RCV001084205 RCV002227932 RCV006555538

NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys)

SNV
Germline

Chr2:178575096

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA302622

rs_200144345

18 SubmittersRCV000172645 RCV000222300 RCV000242642 RCV000475296 RCV000768939 RCV001132543 RCV001132544 RCV001129848 RCV001132542 RCV001132541

NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr)

SNV
Germline

Chr2:178575960

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA237836

rs_375202101

7 SubmittersRCV000172267 RCV000217947 RCV000466252

NM_001267550.2(TTN):c.70042G>A (p.Ala23348Thr)

SNV
Germline

Chr2:178576090

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA237839

rs_775146212

4 SubmittersRCV000172268 RCV000615591 RCV001087343

NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln)

SNV
Germline

Chr2:178576997

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA237845

rs_370890454

11 SubmittersRCV000172270 RCV000219897 RCV000470047 RCV000247024 RCV000769962 RCV005025271

NM_001267550.2(TTN):c.68824+1G>A

SNV
Germline

Chr2:178577601

Conflicting classifications of pathogenicity

Condition: not provided
Areflexia of lower limbs
Spinal rigidity
Thoracic kyphoscoliosis
Bilateral talipes equinovarus
Restrictive ventilatory defect
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA237848

rs_112484439

3 SubmittersRCV000172271 RCV000414790 RCV005213220

NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys)

SNV
Germline

Chr2:178578869

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA302453

rs_374492812

7 SubmittersRCV000172273 RCV000252894 RCV000412699 RCV000460832 RCV001131377 RCV001131373 RCV001131374 RCV001131375 RCV001131376

NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly)

SNV
Germline

Chr2:178579965

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237855

rs_201223583

5 SubmittersRCV000172277 RCV000464968 RCV002354440

NM_001267550.2(TTN):c.66386G>A (p.Arg22129His)

SNV
Germline

Chr2:178581983

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA237864

rs_187257105

6 SubmittersRCV000172280 RCV000768955 RCV001086075 RCV005237640

NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn)

SNV
Germline

Chr2:178587334

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA302457

rs_199505416

13 SubmittersRCV000172288 RCV000559196 RCV000769981 RCV001135229 RCV001135226 RCV001135227 RCV001135228 RCV002453599 RCV001135230 RCV004725022 RCV005404318

NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln)

SNV
Germline

Chr2:178590793

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA237900

rs_373062007

10 SubmittersRCV000172296 RCV000220034 RCV000283208 RCV000297539 RCV000341926 RCV000400629 RCV000558110 RCV000401451 RCV002453600 RCV004535172

NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile)

SNV
Germline

Chr2:178593724

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA238495

rs_377682563

14 SubmittersRCV000172656 RCV000266149 RCV000272074 RCV000321127 RCV000385028 RCV000311922 RCV000360816 RCV000471860 RCV001798623 RCV002321686

NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu)

SNV
Germline

Chr2:178595546

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiomyopathy
TTN-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA238498

rs_369440319

9 SubmittersRCV000172657 RCV000461841 RCV000592228 RCV000770004 RCV004539591 RCV002444691

NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)

SNV
Germline

Chr2:178597640

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302461

rs_188185141

22 SubmittersRCV000172302 RCV000213728 RCV000233875 RCV000764323 RCV001130772 RCV001130773 RCV001130774 RCV001130775 RCV001130776 RCV001798613 RCV002433752

NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr)

SNV
Germline

Chr2:178597928

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA237918

rs_78509062

7 SubmittersRCV000172304 RCV000463568 RCV003448276 RCV005237641

NM_001267550.2(TTN):c.56686G>A (p.Val18896Met)

SNV
Germline

Chr2:178599024

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA302465

rs_370629962

10 SubmittersRCV000172305 RCV000242147 RCV000768983 RCV001087751 RCV001293199 RCV003235091

NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu)

SNV
Germline

Chr2:178599646

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions

Criteria Provided
Conflicting Classifications

CA237921

rs_200132226

12 SubmittersRCV000172306 RCV000246388 RCV000500554 RCV000643101 RCV000764325

NM_001267550.2(TTN):c.55655G>A (p.Arg18552His)

SNV
Germline

Chr2:178601342

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237924

rs_201774108

8 SubmittersRCV000172307 RCV000232325 RCV002433753

NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg)

SNV
Germline

Chr2:178601694

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA237927

rs_772677752

8 SubmittersRCV000219508 RCV000172308 RCV001135752 RCV001135753 RCV001135754 RCV002433754 RCV000460774 RCV001135751 RCV001135750

NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro)

SNV
Germline

Chr2:178601736

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA302469

rs_372541479

9 SubmittersRCV000461788 RCV000852840 RCV000172309 RCV002433755 RCV003323425

NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr)

SNV
Germline

Chr2:178603947

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA302473

rs_200585270

10 SubmittersRCV000172311 RCV001087555 RCV002433756 RCV003150041 RCV005404320

NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)

SNV
Germline

Chr2:178603977

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Hypertrophic cardiomyopathy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302477

rs_201412693

14 SubmittersRCV000172312 RCV000259186 RCV000313378 RCV000242658 RCV000312071 RCV000277068 RCV000354316 RCV000366773 RCV000395819 RCV000768993 RCV001082395 RCV004535173

NM_001267550.2(TTN):c.54581G>A (p.Gly18194Asp)

SNV
Germline

Chr2:178604106

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA237930

rs_201802447

6 SubmittersRCV000172313 RCV000533892 RCV000764328 RCV005404321

NM_001267550.2(TTN):c.49367G>A (p.Arg16456His)

SNV
Germline

Chr2:178613916

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237945

rs_768914789

6 SubmittersRCV000342229 RCV000172318 RCV000289489 RCV002469044 RCV000387541 RCV000290799 RCV000381631 RCV002415735

NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro)

SNV
Germline

Chr2:178615350

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
6 conditions
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA237954

rs_752629624

6 SubmittersRCV000172322 RCV001128751 RCV001128752 RCV001798614 RCV005025272 RCV001128754 RCV001128753 RCV001135757

NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu)

SNV
Germline

Chr2:178616953

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA237963

rs_184815126

9 SubmittersRCV000172325 RCV000229401 RCV002415736 RCV002509279

NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys)

SNV
Germline

Chr2:178618369

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302485

rs_780334981

6 SubmittersRCV000172326 RCV000474594 RCV002415737

NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu)

SNV
Germline

Chr2:178621944

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA302630

rs_200931793

5 SubmittersRCV000172669 RCV000412693 RCV000468053

NM_001267550.2(TTN):c.42839A>G (p.Asp14280Gly)

SNV
Germline

Chr2:178633520

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237989

rs_181902304

4 SubmittersRCV000172336 RCV000527067 RCV002399618

NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)

SNV
Germline

Chr2:178636050

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA302489

rs_201257644

20 SubmittersRCV000172340 RCV000219175 RCV000469863 RCV000626790 RCV001134387 RCV001134389 RCV001131408 RCV001134390 RCV001134388 RCV002390415 RCV003150042

NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile)

SNV
Germline

Chr2:178652156

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA238015

rs_777119867

9 SubmittersRCV000172348 RCV000210649 RCV000234190 RCV001129320 RCV001132015 RCV001132016 RCV001132017 RCV001132014

NM_001267550.2(TTN):c.39050A>G (p.Glu13017Gly)

SNV
Germline

Chr2:178652535

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238018

rs_368056479

4 SubmittersRCV000172349 RCV001085993 RCV001129419 RCV001129420 RCV001129421 RCV001132135 RCV001132136

NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly)

SNV
Germline

Chr2:178664032

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder
6 conditions
Congenital myopathy

Criteria Provided
Conflicting Classifications

CA200105

rs_200513156

15 SubmittersRCV000172801 RCV000230117 RCV000997491 RCV001840242 RCV001840243 RCV001840244 RCV001840245 RCV004539593 RCV005396515 RCV005625363

NM_001267550.2(TTN):c.36254A>G (p.Gln12085Arg)

SNV
Germline

Chr2:178664486

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238033

rs_183220684

2 SubmittersRCV000172356 RCV001080191

NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg)

SNV
Germline

Chr2:178664926

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA238035

rs_199868380

6 SubmittersRCV000172357 RCV000226876 RCV003479043

NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr)

SNV
Germline

Chr2:178677696

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238045

rs_532102837

12 SubmittersRCV000172361 RCV000248449 RCV000340184 RCV000371985 RCV000282781 RCV000337132 RCV000394687 RCV000603350 RCV000770054 RCV001084484

NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln)

SNV
Germline

Chr2:178692043

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA238057

rs_376287951

11 SubmittersRCV000222100 RCV000548036 RCV000172366 RCV001132693 RCV001132694 RCV001132695 RCV001132696 RCV004535175 RCV001132692

NM_001267550.2(TTN):c.28681G>A (p.Ala9561Thr)

SNV
Germline

Chr2:178709638

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA238069

rs_373380202

3 SubmittersRCV000172370 RCV001133624 RCV001130655 RCV001130656 RCV001130657 RCV001130658

NM_001267550.2(TTN):c.28465C>T (p.Arg9489Trp)

SNV
Germline

Chr2:178709854

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA302495

rs_200489972

5 SubmittersRCV000172373 RCV000412691 RCV001130094 RCV001130095 RCV001130800 RCV001130801 RCV001130093

NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met)

SNV
Germline

Chr2:178710835

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238072

rs_375209383

5 SubmittersRCV000591182 RCV000172374 RCV000642914

NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg)

SNV
Germline

Chr2:178712832

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA238084

rs_201229221

7 SubmittersRCV000172378 RCV000457855 RCV000596358

NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)

SNV
Germline

Chr2:178715537

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
6 conditions
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA302503

rs_200355367

13 SubmittersRCV000172382 RCV000233708 RCV000278126 RCV000284139 RCV000372724 RCV000378374 RCV000339199 RCV000764342 RCV001798616 RCV003235092

NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln)

SNV
Germline

Chr2:178717253

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238518

rs_201418615

10 SubmittersRCV000172687 RCV000215717 RCV001083467

NM_001267550.2(TTN):c.21378A>C (p.Glu7126Asp)

SNV
Germline

Chr2:178723881

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238108

rs_786205315

3 SubmittersRCV000172391 RCV000610152 RCV000642888

NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp)

SNV
Germline

Chr2:178727370

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA238120

rs_146828735

5 SubmittersRCV000172397 RCV001089301 RCV001132974 RCV001132973 RCV001132975 RCV001132971 RCV001132972

NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met)

SNV
Germline

Chr2:178728277

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA302511

rs_199796249

12 SubmittersRCV000172398 RCV000303063 RCV000306811 RCV000342923 RCV000346409 RCV000401694 RCV000464696 RCV001170094 RCV004535176 RCV005404322

NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn)

SNV
Germline

Chr2:178731464

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA238135

rs_576904726

9 SubmittersRCV000172403 RCV000535301 RCV002225089 RCV001798617 RCV005237642

NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro)

SNV
Germline

Chr2:178735577

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA302515

rs_780405420

8 SubmittersRCV000172412 RCV000468843 RCV003448277 RCV003987420

NM_001267550.2(TTN):c.13701T>G (p.Asp4567Glu)

SNV
Germline

Chr2:178739532

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238155

rs_200422152

3 SubmittersRCV000172416 RCV000643203

NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn)

SNV
Germline

Chr2:178740412

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA238157

rs_200348414

7 SubmittersRCV000172417 RCV000217501 RCV000544990 RCV000620036 RCV003486720

NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp)

SNV
Germline

Chr2:178756706

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Conflicting Classifications

CA302528

rs_377401997

7 SubmittersRCV000172451 RCV000462612 RCV001563648 RCV002466253 RCV002500451

NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg)

SNV
Germline

Chr2:178764658

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA302531

rs_200052398

8 SubmittersRCV000172452 RCV000475682 RCV000622253 RCV001171055

NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu)

SNV
Germline

Chr2:178764808

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA302537

rs_146199720

8 SubmittersRCV000172453 RCV000412686 RCV000526576 RCV002381564 RCV002485115

NM_001267550.2(TTN):c.8788G>A (p.Val2930Ile)

SNV
Germline

Chr2:178769793

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238228

rs_56373393

7 SubmittersRCV000172458 RCV000614292 RCV000769106 RCV001084753

NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys)

SNV
Germline

Chr2:178774337

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA238249

rs_147580120

4 SubmittersRCV000172464 RCV000642748 RCV002362887

NM_001267550.2(TTN):c.6770C>G (p.Thr2257Ser)

SNV
Germline

Chr2:178774941

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238254

rs_755999681

2 SubmittersRCV000172465 RCV001078603

NM_001267550.2(TTN):c.6668A>T (p.His2223Leu)

SNV
Germline

Chr2:178775043

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
Hypertrophic cardiomyopathy
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA302549

rs_372979075

11 SubmittersRCV000172467 RCV000642957 RCV000618905 RCV000765589 RCV000852932 RCV003150043 RCV005404324

NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly)

SNV
Germline

Chr2:178775127

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA238259

rs_202032875

11 SubmittersRCV000172468 RCV000279091 RCV000282750 RCV000375953 RCV000336583 RCV000379439 RCV000540799 RCV002362888 RCV005404325

NM_001267550.2(TTN):c.5855A>G (p.His1952Arg)

SNV
Germline

Chr2:178776009

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238269

rs_572691153

3 SubmittersRCV000172470 RCV000471938

NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser)

SNV
Germline

Chr2:178776600

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA238284

rs_201904897

9 SubmittersRCV000476288 RCV000172475 RCV000259138

NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly)

SNV
Germline

Chr2:178779006

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA302567

rs_370978752

6 SubmittersRCV000172479 RCV000260058 RCV000263663 RCV000378238 RCV000321201 RCV000317593 RCV000412681 RCV000553812 RCV003486721

NM_001267550.2(TTN):c.3616G>T (p.Ala1206Ser)

SNV
Germline

Chr2:178780113

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238299

rs_200749662

3 SubmittersRCV000172481 RCV000643074

NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser)

SNV
Germline

Chr2:178782351

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA302579

rs_55914517

7 SubmittersRCV000172483 RCV000412679 RCV000536793 RCV001129768 RCV001129769 RCV001129770 RCV001129771 RCV001129767 RCV003486722

NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys)

SNV
Germline

Chr2:178782896

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA238309

rs_200902055

6 SubmittersRCV000172484 RCV000622026 RCV000477223

NM_001267550.2(TTN):c.2504C>A (p.Ala835Asp)

SNV
Germline

Chr2:178784341

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA238319

rs_200572298

4 SubmittersRCV000172486 RCV001129977 RCV001129978 RCV001129979 RCV001129980 RCV001129981 RCV002509280

NM_001267550.2(TTN):c.2358C>G (p.His786Gln)

SNV
Germline

Chr2:178785860

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA238324

rs_199507913

7 SubmittersRCV000172487 RCV000557117 RCV001135138 RCV001135140 RCV001135137 RCV001135139 RCV001135141 RCV002426824

NM_001267550.2(TTN):c.2022A>C (p.Arg674Ser)

SNV
Germline

Chr2:178789414

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA238334

rs_180694107

5 SubmittersRCV000172489 RCV000463378 RCV005404326

NM_001267550.2(TTN):c.266C>G (p.Ala89Gly)

SNV
Germline

Chr2:178802167

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Brugada syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA302585

rs_200165636

13 SubmittersRCV000172495 RCV000524658 RCV000577960 RCV000578069 RCV000578038 RCV001142582 RCV001142583 RCV001281537 RCV002433758 RCV004767117

NM_001267550.2(TTN):c.43G>A (p.Val15Ile)

SNV
Germline

Chr2:178804600

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA238531

rs_201857541

9 SubmittersRCV000172733 RCV000469634 RCV001140835 RCV001170882 RCV001142681 RCV001142682 RCV000218176 RCV002326949 RCV001140836 RCV001142683

NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)

SNV
Germline

Chr17:39665918

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy 25
Primary familial hypertrophic cardiomyopathy
Cardiovascular phenotype
not specified
Primary familial hypertrophic cardiomyopathy
Brugada syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2G
Hypertrophic cardiomyopathy 25
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2G
Primary dilated cardiomyopathy
Primary familial hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA302372

rs_146906267

18 SubmittersRCV000172109 RCV000198859 RCV000243459 RCV000219652 RCV000622969 RCV000852716 RCV001128398 RCV001128399 RCV001170355 RCV005863017

NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)

SNV
Germline

Chr15:42359950

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA346852

rs_794726871

10 SubmittersRCV000173055 RCV000710093 RCV003462272 RCV003114322

NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu)

SNV
Germline

Chr15:42360069

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA238547

rs_760626912

4 SubmittersRCV000173056 RCV001230993

NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro)

SNV
Germline

Chr7:16421244

Conflicting classifications of pathogenicity

not specified
Congenital Muscular Dystrophy, alpha-dystroglycan related
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Condition: not provided
CRPPA-related disorder

Criteria Provided
Conflicting Classifications

CA238663

rs_558064127

7 SubmittersRCV000173205 RCV000292121 RCV000531834 RCV001721100 RCV004535184

NM_013382.7(POMT2):c.87A>T (p.Ala29=)

SNV
Germline

Chr14:77320595

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Conflicting Classifications

CA238887

rs_794726937

2 SubmittersRCV000173433 RCV001484220

NM_201384.3(PLEC):c.933C>T (p.Phe311=)

SNV
Germline

Chr8:143934822

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA239120

rs_369363676

3 SubmittersRCV000173689 RCV001504088

NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp)

SNV
Germline

Chr2:178702065

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA302714

rs_577066020

6 SubmittersRCV000458510 RCV000724662 RCV005406889

NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)

SNV
Germline

Chr15:42401763

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA239448

rs_557164942

8 SubmittersRCV000173976 RCV000201107 RCV003462275 RCV005008096

NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile)

SNV
Germline

Chr2:178689852

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302729

rs_139790668

10 SubmittersRCV000214411 RCV000724240 RCV000768887 RCV001085372 RCV004535198

NM_001267550.2(TTN):c.31846+1G>A

SNV
Germline

Chr2:178689812

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA239715

rs_794727043

5 SubmittersRCV000473656 RCV000493981 RCV002287378

NM_201384.3(PLEC):c.1050G>A (p.Val350=)

SNV
Germline

Chr8:143934437

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA239748

rs_74461721

2 SubmittersRCV000174247 RCV001089305

NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg)

SNV
Germline

Chr8:143934329

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA239757

rs_201667254

10 SubmittersRCV000174248 RCV000559452 RCV001721103 RCV002516622 RCV004537363

NM_001267550.2(TTN):c.32471-1G>A

SNV
Germline

Chr2:178684990

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Dilated cardiomyopathy 1G
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA239986

rs_371725574

10 SubmittersRCV000174435 RCV000723286 RCV001060586 RCV002500468 RCV003989491 RCV004786489

NM_013382.7(POMT2):c.1404A>G (p.Lys468=)

SNV
Germline

Chr14:77285561

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy type 2N
Lung cancer

Criteria Provided
Conflicting Classifications

CA209704

rs_150491326

10 SubmittersRCV000195101 RCV000724261 RCV001078868 RCV001120972 RCV005889768

NM_001267550.2(TTN):c.32808G>T (p.Val10936=)

SNV
Germline

Chr2:178683290

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA240191

rs_794727109

2 SubmittersRCV000174633 RCV001466705

NM_001267550.2(TTN):c.33340+5A>C

SNV
Germline

Chr2:178681074

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA240203

rs_373367032

8 SubmittersRCV000174638 RCV000559362 RCV000724749 RCV002467644 RCV004539618

NM_001267550.2(TTN):c.33267A>G (p.Lys11089=)

SNV
Germline

Chr2:178681152

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA240204

rs_748320500

2 SubmittersRCV000174639 RCV003114324

NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro)

SNV
Germline

Chr2:71535079

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
not specified
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA240279

rs_794727119

5 SubmittersRCV000174707 RCV000674572 RCV003468855 RCV005237647 RCV005864457

NM_013382.7(POMT2):c.1485-4A>C

SNV
Germline

Chr14:77285045

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA240325

rs_794727127

2 SubmittersRCV000174764 RCV001078804

NM_001267550.2(TTN):c.2137C>A (p.Arg713=)

SNV
Germline

Chr2:178786081

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA240385

rs_727505277

2 SubmittersRCV000174803 RCV003765086

NM_201384.3(PLEC):c.1461G>A (p.Glu487=)

SNV
Germline

Chr8:143933069

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA240441

rs_782426400

3 SubmittersRCV000174849 RCV002056925

NM_201384.3(PLEC):c.1545C>T (p.Pro515=)

SNV
Germline

Chr8:143932985

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA240450

rs_199968254

4 SubmittersRCV000725385 RCV001087346

NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val)

SNV
Germline

Chr2:178662980

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA240621

rs_755562550

6 SubmittersRCV000340850 RCV000394487 RCV000174971 RCV000281125 RCV000360532 RCV000398847 RCV000724464

NM_013382.7(POMT2):c.1701C>G (p.Pro567=)

SNV
Germline

Chr14:77280416

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA240732

rs_151051452

8 SubmittersRCV000175070 RCV000381501 RCV000724544 RCV001087189

NM_001267550.2(TTN):c.2589T>C (p.Thr863=)

SNV
Germline

Chr2:178784256

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA240789

rs_794727178

4 SubmittersRCV000175104 RCV001082076 RCV005298455

NM_213599.3(ANO5):c.1898+1G>A

SNV
Germline

Chr11:22263044

Pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L

Reviewed By Expert Panel

CA201366

rs_142027093

17 SubmittersRCV000479758 RCV000627783 RCV000762832 RCV001270118 RCV005864458 RCV005632283

NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)

SNV
Germline

Chr9:131521445

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA211187

rs_794727208

6 SubmittersRCV000175325 RCV000704810 RCV003474928

NM_013382.7(POMT2):c.1881G>A (p.Ala627=)

SNV
Germline

Chr14:77279833

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided

Criteria Provided
Conflicting Classifications

CA201393

rs_146588608

7 SubmittersRCV000175331 RCV000327579 RCV000648187 RCV001531816

NM_001267550.2(TTN):c.3030C>T (p.Ser1010=)

SNV
Germline

Chr2:178782876

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA241114

rs_374346637

5 SubmittersRCV000175379 RCV001417394 RCV001699219 RCV002433766

NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys)

SNV
Germline

Chr2:178630881

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302785

rs_200445568

10 SubmittersRCV000219227 RCV000618077 RCV000724241 RCV000769015 RCV001079420 RCV004537383

NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu)

SNV
Germline

Chr9:131522113

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA278501

rs_149682171

7 SubmittersRCV000175455 RCV000648152 RCV004567380 RCV005049457 RCV005406892

NM_012470.4(TNPO3):c.2326A>G (p.Ile776Val)

SNV
Germline

Chr7:128972530

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA241214

rs_368873021

5 SubmittersRCV000175457 RCV000531231 RCV002516677

NM_013382.7(POMT2):c.1903G>A (p.Val635Ile)

SNV
Germline

Chr14:77278858

Conflicting classifications of pathogenicity

not specified
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Conflicting Classifications

CA241216

rs_142299878

9 SubmittersRCV000175458 RCV000543953 RCV000712836 RCV000763950

NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu)

SNV
Germline

Chr14:77278803

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Criteria Provided
Conflicting Classifications

CA241219

rs_794727228

7 SubmittersRCV000175459 RCV000703953 RCV005431519 RCV005868010

NM_201384.3(PLEC):c.2237G>A (p.Arg746His)

SNV
Germline

Chr8:143931601

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA201489

rs_200887085

6 SubmittersRCV000175499 RCV000555489 RCV000999100

NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser)

SNV
Germline

Chr11:22272895

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Gnathodiaphyseal dysplasia
ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy type 2L
not specified

Criteria Provided
Conflicting Classifications

CA241255

rs_200631556

12 SubmittersRCV000534324 RCV000710577 RCV000988506 RCV001108801 RCV002288780 RCV006456782

NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys)

SNV
Germline

Chr2:178619866

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302790

rs_72677229

13 SubmittersRCV000231768 RCV000259187 RCV000724743 RCV001798628 RCV002408763 RCV004734782

NM_000231.3(SGCG):c.58A>G (p.Asn20Asp)

SNV
Germline

Chr13:23203752

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C
not specified

Criteria Provided
Conflicting Classifications

CA241313

rs_763248287

5 SubmittersRCV000175560 RCV000818118 RCV004998372

NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)

SNV
Germline

Chr3:49510792

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
DAG1-related disorder

Criteria Provided
Conflicting Classifications

CA201626

rs_145403829

12 SubmittersRCV000175779 RCV000543538 RCV001080136 RCV001262919 RCV003891718

NM_004393.6(DAG1):c.183T>C (p.Val61=)

SNV
Germline

Chr3:49510717

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P
DAG1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA241546

rs_775928044

5 SubmittersRCV000175780 RCV001081487 RCV003977432 RCV005237649

NM_001077365.2(POMT1):c.42C>T (p.Asp14=)

SNV
Germline

Chr9:131504260

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA241620

rs_150937126

5 SubmittersRCV000215378 RCV000724701 RCV001088411 RCV004528935

NM_017739.4(POMGNT1):c.87G>A (p.Leu29=)

SNV
Germline

Chr1:46197735

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA241695

rs_794727291

2 SubmittersRCV000175881 RCV001432865

NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe)

SNV
Germline

Chr15:42410446

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive disease

Criteria Provided
Multiple Submitters
No Conflicts

CA241878

rs_794727318

6 SubmittersRCV000597464 RCV000798205 RCV003462280 RCV005623071

NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)

SNV
Germline

Chr2:71553110

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Reviewed By Expert Panel

CA241938

rs_201049092

9 SubmittersRCV000176067 RCV000675177 RCV001852168 RCV003468857 RCV003235095 RCV005025280

NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=)

SNV
Germline

Chr9:131523025

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA241948

rs_138902646

5 SubmittersRCV000724246 RCV001085583 RCV001169205

NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)

SNV
Germline

Chr9:131523025

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Conflicting Classifications

CA211189

rs_138902646

6 SubmittersRCV000176088 RCV000535678 RCV003462281 RCV005042377

NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)

SNV
Germline

Chr2:178617838

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
not specified
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302828

rs_199640194

13 SubmittersRCV000459255 RCV000724914 RCV001332831 RCV000213221 RCV003486728 RCV002415758

NM_001267550.2(TTN):c.48462G>A (p.Thr16154=)

SNV
Germline

Chr2:178615483

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA242012

rs_202141158

7 SubmittersRCV000617431 RCV000724694 RCV001083383 RCV001128756 RCV001131393 RCV001128757 RCV001128758 RCV001128755

NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)

SNV
Germline

Chr15:42410638

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA242015

rs_147774793

10 SubmittersRCV000246649 RCV000723489 RCV001085030 RCV003242999

NM_001130987.2(DYSF):c.1985-4C>G

SNV
Germline

Chr2:71553803

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA242073

rs_374489513

4 SubmittersRCV000176196 RCV001080312 RCV001271784

NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)

SNV
Germline

Chr2:178614225

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302836

rs_200944827

10 SubmittersRCV000222990 RCV000643008 RCV000724717 RCV001134129 RCV001134131 RCV001134132 RCV001134128 RCV001134130 RCV002426845 RCV004734785

NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile)

SNV
Germline

Chr2:178612448

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA242127

rs_377141765

7 SubmittersRCV000456148 RCV000724235 RCV002444706 RCV005417992

NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)

SNV
Germline

Chr15:42410958

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346865

rs_778768583

13 SubmittersRCV000176251 RCV000386470 RCV003474930 RCV005008101

NM_201384.3(PLEC):c.2604C>T (p.Ala868=)

SNV
Germline

Chr8:143930152

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA242149

rs_201827413

3 SubmittersRCV000176267 RCV001450221

NM_201384.3(PLEC):c.2458-8C>T

SNV
Germline

Chr8:143930306

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA242158

rs_201818691

6 SubmittersRCV000712728 RCV001080184

NM_201384.3(PLEC):c.2551G>A (p.Val851Met)

SNV
Germline

Chr8:143930205

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA242168

rs_200647397

7 SubmittersRCV000712729 RCV001089444 RCV004539634 RCV006439702

NM_213599.3(ANO5):c.2521C>G (p.His841Asp)

SNV
Germline

Chr11:22279544

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA242241

rs_781027702

7 SubmittersRCV000176339 RCV000791570 RCV001254725 RCV003330536

NM_213599.3(ANO5):c.2698A>C (p.Met900Leu)

SNV
Germline

Chr11:22279721

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases
Gnathodiaphyseal dysplasia
ANO5-related disorder

Criteria Provided
Conflicting Classifications

CA242244

rs_148293985

11 SubmittersRCV000176340 RCV000428732 RCV001082354 RCV001105586 RCV001333778 RCV004732743

NM_001267550.2(TTN):c.51231C>A (p.Thr17077=)

SNV
Germline

Chr2:178610295

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA242247

rs_779518431

4 SubmittersRCV000176341 RCV000534107 RCV003165367 RCV005404331

NM_001267550.2(TTN):c.51273G>A (p.Arg17091=)

SNV
Germline

Chr2:178610253

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA201914

rs_532589236

8 SubmittersRCV000176342 RCV001129942 RCV001130637 RCV001130638 RCV001129943 RCV001130636 RCV001443544 RCV004020092 RCV004734787

NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln)

SNV
Germline

Chr2:178609288

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242250

rs_370390570

9 SubmittersRCV000176344 RCV000724526 RCV001086903 RCV001798629 RCV002426846

NM_001267550.2(TTN):c.52004G>A (p.Arg17335His)

SNV
Germline

Chr2:178609306

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302842

rs_367603302

7 SubmittersRCV000213905 RCV000725162 RCV001086306 RCV002426847

NM_001267550.2(TTN):c.52374T>C (p.Val17458=)

SNV
Germline

Chr2:178608637

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242253

rs_752571545

4 SubmittersRCV000724746 RCV002054076 RCV002426848

NM_001267550.2(TTN):c.52656T>C (p.Pro17552=)

SNV
Germline

Chr2:178608227

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA242259

rs_371031259

5 SubmittersRCV000176348 RCV001089153 RCV001288570 RCV002426849 RCV004539636

NM_001267550.2(TTN):c.53590A>G (p.Thr17864Ala)

SNV
Germline

Chr2:178605705

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA242268

rs_375309278

5 SubmittersRCV000457092 RCV000852842 RCV000176351 RCV004700538

NM_001267550.2(TTN):c.54054G>A (p.Lys18018=)

SNV
Germline

Chr2:178605123

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242271

rs_761146363

4 SubmittersRCV000176352 RCV001427412 RCV002426850

NM_000070.3(CAPN3):c.2409A>T (p.Gly803=)

SNV
Germline

Chr15:42411315

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA242275

rs_143139259

2 SubmittersRCV000176354 RCV002517696

NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)

SNV
Germline

Chr2:71561870

Conflicting classifications of pathogenicity

Condition: not provided
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA242326

rs_138654170

7 SubmittersRCV000176395 RCV000765697 RCV001085145 RCV001271790

NM_001267550.2(TTN):c.54321A>G (p.Ala18107=)

SNV
Germline

Chr2:178604768

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242381

rs_368021072

9 SubmittersRCV000221057 RCV000724540 RCV001131648 RCV001132666 RCV001088302 RCV001131647 RCV001132665 RCV001132667 RCV002426851

NM_001267550.2(TTN):c.56535G>A (p.Thr18845=)

SNV
Germline

Chr2:178599258

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA207890

rs_529480368

9 SubmittersRCV000194014 RCV000619752 RCV000724413 RCV001078673 RCV001130335 RCV001130337 RCV001130338 RCV001131032 RCV001130336 RCV003150048

NM_201384.3(PLEC):c.2844C>T (p.Pro948=)

SNV
Germline

Chr8:143929725

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA242402

rs_200482255

10 SubmittersRCV000176458 RCV000725509 RCV001086698

NM_201384.3(PLEC):c.2748C>T (p.Thr916=)

SNV
Germline

Chr8:143929821

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA242411

rs_372942259

2 SubmittersRCV000176459 RCV001080178

NM_001267550.2(TTN):c.56850G>A (p.Val18950=)

SNV
Germline

Chr2:178598860

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA242485

rs_368068200

4 SubmittersRCV000176508 RCV000251225 RCV000724307 RCV001082517

NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser)

SNV
Germline

Chr2:178594030

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
TTN-related disorder
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA302859

rs_191927501

17 SubmittersRCV000176513 RCV000245462 RCV000218113 RCV000537285 RCV001132557 RCV001132559 RCV001132560 RCV001132558 RCV001133469 RCV004537403 RCV003486729 RCV005396534

NM_001267550.2(TTN):c.59316G>A (p.Pro19772=)

SNV
Germline

Chr2:178592803

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA242494

rs_377180286

11 SubmittersRCV000618923 RCV000724238 RCV000769995 RCV001085373 RCV004539639 RCV005431521

NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln)

SNV
Germline

Chr8:143929517

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA201975

rs_534045685

5 SubmittersRCV000176531 RCV000648652 RCV001697162 RCV003165369 RCV004537405

NM_001267550.2(TTN):c.4362A>G (p.Leu1454=)

SNV
Germline

Chr2:178777822

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242580

rs_794727406

3 SubmittersRCV000176593 RCV001450209 RCV004992050

NM_001267550.2(TTN):c.60342C>T (p.Thr20114=)

SNV
Germline

Chr2:178591383

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242602

rs_529529087

6 SubmittersRCV000176602 RCV001088829 RCV001699054 RCV002453627

NM_001267550.2(TTN):c.62280T>C (p.Val20760=)

SNV
Germline

Chr2:178589445

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA242608

rs_372065796

14 SubmittersRCV000176605 RCV000251065 RCV000284206 RCV000289353 RCV000333758 RCV000344432 RCV000388445 RCV000724705 RCV001079619 RCV004734789

NM_001267550.2(TTN):c.63273T>C (p.Asp21091=)

SNV
Germline

Chr2:178588134

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA242614

rs_374168580

13 SubmittersRCV000176608 RCV000724772 RCV001130333 RCV001131024 RCV001131025 RCV001085918 RCV001170818 RCV001130332 RCV001130334

NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)

SNV
Germline

Chr2:178586563

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA302863

rs_371514555

11 SubmittersRCV000213072 RCV000622146 RCV000724605 RCV001081517 RCV000769976

NM_001267550.2(TTN):c.66187G>C (p.Val22063Leu)

SNV
Germline

Chr2:178582182

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA242742

rs_768057735

7 SubmittersRCV000555829 RCV000724792 RCV002500489 RCV005628235

NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn)

SNV
Germline

Chr2:178581667

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tip-toe gait
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242748

rs_368924655

7 SubmittersRCV000176710 RCV000642872 RCV002250588 RCV002354451

NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)

SNV
Germline

Chr2:71569911

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
DYSF-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA242772

rs_144636654

14 SubmittersRCV000725533 RCV001079396 RCV001272822 RCV001810433 RCV001449649 RCV004552986 RCV006452486

NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr)

SNV
Germline

Chr2:178576952

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Sarcoma
Lung cancer

Criteria Provided
Conflicting Classifications

CA202117

rs_72646882

13 SubmittersRCV000176782 RCV000460701 RCV000620952 RCV001082646 RCV001133986 RCV001133988 RCV001133989 RCV001133990 RCV001133987 RCV001170572 RCV005889893 RCV005889890 RCV005889891 RCV005889892

NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp)

SNV
Germline

Chr2:178575697

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242813

rs_760509116

4 SubmittersRCV000724093 RCV000467630 RCV002326967

NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln)

SNV
Germline

Chr2:178562616

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Hypertrophic cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302878

rs_376820301

11 SubmittersRCV000242513 RCV000259119 RCV000259353 RCV000274523 RCV000299241 RCV000317203 RCV000356458 RCV000366970 RCV000487528 RCV001081800 RCV001798632 RCV004528940

NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp)

SNV
Germline

Chr2:178573366

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tip-toe gait
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA302882

rs_187868672

9 SubmittersRCV000265766 RCV000300684 RCV000337171 RCV000361406 RCV000397204 RCV000725272 RCV001081316 RCV002227452 RCV002326968 RCV005237652

NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)

SNV
Germline

Chr2:178564660

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302886

rs_200771189

16 SubmittersRCV000259190 RCV000539580 RCV000724797 RCV000769926 RCV002345607

NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile)

SNV
Germline

Chr2:178562817

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302890

rs_578191491

14 SubmittersRCV000220460 RCV000302870 RCV000357762 RCV000356701 RCV000402442 RCV000468138 RCV000406858 RCV000769924 RCV001796725 RCV002345608 RCV004537413

NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile)

SNV
Germline

Chr2:178565278

Conflicting classifications of pathogenicity

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA242835

rs_371362606

9 SubmittersRCV000176798 RCV000287638 RCV000327344 RCV000284771 RCV000342639 RCV000401115 RCV000464328 RCV001778772 RCV002345609 RCV004734790

NM_001267550.2(TTN):c.86052T>C (p.Thr28684=)

SNV
Germline

Chr2:178560080

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302902

rs_76928874

11 SubmittersRCV000176810 RCV000290898 RCV000381555 RCV000296778 RCV000385138 RCV000345872 RCV000528103 RCV001311951 RCV002354452

NM_001267550.2(TTN):c.80527T>C (p.Leu26843=)

SNV
Germline

Chr2:178565605

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242850

rs_142004835

7 SubmittersRCV000176811 RCV000724412 RCV001088000 RCV003150051 RCV002345610

NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln)

SNV
Germline

Chr2:178568883

Conflicting classifications of pathogenicity

Cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242859

rs_368038362

7 SubmittersRCV000768920 RCV001130187 RCV001130188 RCV001130888 RCV001130889 RCV001130890 RCV000176815 RCV000617448

NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala)

SNV
Germline

Chr2:178576035

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302906

rs_372782502

10 SubmittersRCV000259188 RCV000724759 RCV001087084 RCV002326970

NM_001267550.2(TTN):c.77706C>T (p.Asp25902=)

SNV
Germline

Chr2:178568426

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242862

rs_375764395

4 SubmittersRCV000176818 RCV000724774 RCV001457688 RCV002345611

NM_001267550.2(TTN):c.73914G>A (p.Glu24638=)

SNV
Germline

Chr2:178572218

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA242877

rs_376382707

4 SubmittersRCV000176824 RCV001079057 RCV002336429 RCV004539641

NM_001267550.2(TTN):c.81123G>A (p.Thr27041=)

SNV
Germline

Chr2:178565009

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242886

rs_181299250

4 SubmittersRCV000176828 RCV001080624 RCV002345612

NM_001267550.2(TTN):c.73873T>C (p.Leu24625=)

SNV
Germline

Chr2:178572259

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242889

rs_545556079

4 SubmittersRCV000176831 RCV000724522 RCV001483891 RCV002336431

NM_001267550.2(TTN):c.88106G>T (p.Gly29369Val)

SNV
Germline

Chr2:178557048

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA242898

rs_55898359

2 SubmittersRCV000176837 RCV001089335

NM_001267550.2(TTN):c.88248T>C (p.Val29416=)

SNV
Germline

Chr2:178556906

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA242901

rs_794727458

2 SubmittersRCV000176838 RCV001467250

NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly)

SNV
Germline

Chr8:143927435

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
PLEC-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA242919

rs_187648086

8 SubmittersRCV000176847 RCV000547452 RCV000724976 RCV004737269 RCV005396535

NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu)

SNV
Germline

Chr8:143927546

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA202134

rs_146685404

6 SubmittersRCV000176848 RCV000874343 RCV001288289 RCV002517703 RCV004737270

NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val)

SNV
Germline

Chr2:178776883

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA242985

rs_749438439

6 SubmittersRCV000176894 RCV000534726 RCV002336432 RCV005404332

NM_001267550.2(TTN):c.88594+1G>T

SNV
Germline

Chr2:178554864

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA275153

rs_794727467

3 SubmittersRCV000176899 RCV000690273

NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp)

SNV
Germline

Chr2:178554662

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Hypertrophic cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA302913

rs_72648235

10 SubmittersRCV000219348 RCV000542576 RCV000724710 RCV001293052 RCV002354453 RCV005396536

NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp)

SNV
Germline

Chr2:178551097

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA243018

rs_373900294

7 SubmittersRCV000176905 RCV000228254 RCV002362901 RCV004782286

NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)

SNV
Germline

Chr2:71570608

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA275155

rs_756328339

8 SubmittersRCV000176934 RCV000724183 RCV001050002 RCV001804906 RCV003468860

NM_001267550.2(TTN):c.94980A>G (p.Glu31660=)

SNV
Germline

Chr2:178546351

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA243073

rs_370769662

5 SubmittersRCV000176956 RCV001078900 RCV002362903 RCV004998377

NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)

SNV
Germline

Chr2:178543909

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Primary dilated cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302919

rs_200540781

14 SubmittersRCV000219446 RCV000316543 RCV000334102 RCV000273519 RCV000375971 RCV000388603 RCV000464293 RCV000617391 RCV000725268 RCV003150052 RCV003319185 RCV004734792

NM_000232.5(SGCB):c.429+5G>A

SNV
Germline

Chr4:52029673

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA243128

rs_794727477

2 SubmittersRCV000177019 RCV003137705

NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)

SNV
Germline

Chr5:156344577

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2F
Condition: not provided
Cardiomyopathy
Qualitative or quantitative defects of delta-sarcoglycan
Autosomal recessive limb-girdle muscular dystrophy type 2F
Dilated cardiomyopathy 1L
Dilated cardiomyopathy 1L

Criteria Provided
Conflicting Classifications

CA302926

rs_200476861

15 SubmittersRCV000212998 RCV000554394 RCV000723938 RCV000852562 RCV001156233 RCV002485153 RCV003233484

NM_201384.3(PLEC):c.174+10G>A

SNV
Germline

Chr8:143938621

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
not specified

Criteria Provided
Conflicting Classifications

CA243174

rs_181850748

3 SubmittersRCV000177068 RCV001088787 RCV001289141

NM_004393.6(DAG1):c.498G>A (p.Ser166=)

SNV
Germline

Chr3:49531009

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P

Criteria Provided
Conflicting Classifications

CA243312

rs_794727500

3 SubmittersRCV000253204 RCV000724576 RCV002516731

NM_004393.6(DAG1):c.2196G>A (p.Pro732=)

SNV
Germline

Chr3:49532707

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA243315

rs_773172058

2 SubmittersRCV000177202 RCV001397474

NM_004393.6(DAG1):c.735G>A (p.Pro245=)

SNV
Germline

Chr3:49531246

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P
not specified

Criteria Provided
Conflicting Classifications

CA243318

rs_748164001

5 SubmittersRCV000177203 RCV000558693 RCV001818427

NM_001077365.2(POMT1):c.129C>T (p.Asp43=)

SNV
Germline

Chr9:131506120

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA209472

rs_200465419

5 SubmittersRCV000194959 RCV000724773 RCV001086998

NM_001267550.2(TTN):c.186C>T (p.Arg62=)

SNV
Germline

Chr2:178802247

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA243575

rs_528853682

4 SubmittersRCV000177399 RCV001079082 RCV001170881 RCV002408768

NM_001267550.2(TTN):c.98781T>C (p.Ser32927=)

SNV
Germline

Chr2:178539154

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA243666

rs_750855113

4 SubmittersRCV000177484 RCV001079949

NM_001267550.2(TTN):c.98919C>T (p.Ile32973=)

SNV
Germline

Chr2:178539016

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA243669

rs_776133124

3 SubmittersRCV000177485 RCV002054092 RCV002372092

NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile)

SNV
Germline

Chr2:178539219

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Tip-toe gait
Cardiovascular phenotype
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA302940

rs_182683829

10 SubmittersRCV000725273 RCV001086077 RCV001134620 RCV001134622 RCV001134624 RCV001134621 RCV001134623 RCV002227933 RCV002362905 RCV004782287 RCV004537431

NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter)

SNV
Germline

Chr2:178537488

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA275197

rs_794727539

3 SubmittersRCV000407629 RCV001049392 RCV003362713

NM_001267550.2(TTN):c.100167A>G (p.Pro33389=)

SNV
Germline

Chr2:178536942

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA243678

rs_778478048

4 SubmittersRCV000177491 RCV001456774 RCV002381575 RCV005434678

NM_001267550.2(TTN):c.100467T>C (p.Ser33489=)

SNV
Germline

Chr2:178536280

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA243681

rs_794727540

2 SubmittersRCV000177493 RCV001479492

NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile)

SNV
Germline

Chr2:178533804

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA302944

rs_794727542

7 SubmittersRCV000259176 RCV000724604 RCV000852774 RCV000818971 RCV002390431 RCV005025283

NM_001267550.2(TTN):c.102025T>C (p.Leu34009=)

SNV
Germline

Chr2:178534590

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA243693

rs_794727543

4 SubmittersRCV000177502 RCV001488339 RCV002390432

NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu)

SNV
Germline

Chr2:178531955

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA243696

rs_774131659

5 SubmittersRCV000177504 RCV000553844 RCV000764294 RCV005404333

NM_201384.3(PLEC):c.3948C>T (p.Tyr1316=)

SNV
Germline

Chr8:143926880

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA243703

rs_782715020

2 SubmittersRCV000177514 RCV002054093

NM_001130987.2(DYSF):c.3403-2A>G

SNV
Germline

Chr2:71589591

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
Acute myeloid leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA275204

rs_370874727

6 SubmittersRCV000277199 RCV000701150 RCV000984258 RCV003468863 RCV004800315 RCV005889935

NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr)

SNV
Germline

Chr8:143922662

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA202537

rs_193257576

11 SubmittersRCV000177598 RCV000712756 RCV001086675 RCV004537437

NM_201384.3(PLEC):c.4839G>A (p.Arg1613=)

SNV
Germline

Chr8:143925090

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA243804

rs_554561043

4 SubmittersRCV000177580 RCV002054098 RCV004537438

NM_201384.3(PLEC):c.4581G>A (p.Ala1527=)

SNV
Germline

Chr8:143925348

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA243813

rs_782459694

2 SubmittersRCV000177581 RCV002054099

NM_201384.3(PLEC):c.6786G>A (p.Thr2262=)

SNV
Germline

Chr8:143923143

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA243831

rs_373922545

7 SubmittersRCV000177583 RCV000712754 RCV001088713

NM_201384.3(PLEC):c.4524G>A (p.Gln1508=)

SNV
Germline

Chr8:143925405

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
not specified

Criteria Provided
Conflicting Classifications

CA243840

rs_370168097

7 SubmittersRCV000727685 RCV001087481 RCV001706135

NM_001267550.2(TTN):c.107377+1G>A

SNV
Germline

Chr2:178528273

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Neuromuscular disease
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA243849

rs_112188483

11 SubmittersRCV000209587 RCV000413060 RCV000797446 RCV002485159 RCV004017452 RCV003380504

NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala)

SNV
Germline

Chr2:178527535

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA302948

rs_374859388

5 SubmittersRCV000213075 RCV000547954 RCV000724101

NM_201384.3(PLEC):c.5391C>T (p.Arg1797=)

SNV
Germline

Chr8:143924538

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA243858

rs_551187778

7 SubmittersRCV000725527 RCV001086331 RCV004537439 RCV004998379

NM_201384.3(PLEC):c.4076G>A (p.Arg1359His)

SNV
Germline

Chr8:143925853

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA243885

rs_574482100

7 SubmittersRCV000415901 RCV001088471 RCV001199099 RCV004737272

NM_201384.3(PLEC):c.6222C>T (p.Ser2074=)

SNV
Germline

Chr8:143923707

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA243894

rs_370347438

4 SubmittersRCV000724805 RCV001087368

NM_201384.3(PLEC):c.6303G>A (p.Glu2101=)

SNV
Germline

Chr8:143923626

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Lung cancer

Criteria Provided
Conflicting Classifications

CA243939

rs_781833947

3 SubmittersRCV000177609 RCV001088939 RCV005889937

NM_201384.3(PLEC):c.5796G>A (p.Ala1932=)

SNV
Germline

Chr8:143924133

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA243948

rs_375568532

5 SubmittersRCV000725386 RCV001079141

NM_201384.3(PLEC):c.7194C>T (p.Arg2398=)

SNV
Germline

Chr8:143922735

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA243957

rs_541134948

3 SubmittersRCV000177611 RCV001088128

NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln)

SNV
Germline

Chr8:143924905

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA243966

rs_370569372

10 SubmittersRCV000545545 RCV000724193 RCV005396542 RCV003987424

NM_201384.3(PLEC):c.4233G>A (p.Ala1411=)

SNV
Germline

Chr8:143925696

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA243975

rs_2855760

4 SubmittersRCV000724191 RCV001085664

NM_201384.3(PLEC):c.6594C>T (p.Thr2198=)

SNV
Germline

Chr8:143923335

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA243984

rs_144242254

9 SubmittersRCV000177614 RCV000585322 RCV001084155

NM_201384.3(PLEC):c.7383G>T (p.Lys2461Asn)

SNV
Germline

Chr8:143922546

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA243993

rs_371673069

5 SubmittersRCV000705315 RCV002516743 RCV000724247

NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln)

SNV
Germline

Chr8:143923393

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
PLEC-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244002

rs_117962829

7 SubmittersRCV000554395 RCV000724990 RCV004537440 RCV002517719

NM_201384.3(PLEC):c.7062G>A (p.Ala2354=)

SNV
Germline

Chr8:143922867

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
not specified
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244011

rs_375587611

6 SubmittersRCV000724225 RCV001083171 RCV004700540 RCV004737273

NM_201384.3(PLEC):c.7188G>A (p.Gln2396=)

SNV
Germline

Chr8:143922741

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA244029

rs_374517570

2 SubmittersRCV000177619 RCV001433609

NM_201384.3(PLEC):c.6162C>T (p.His2054=)

SNV
Germline

Chr8:143923767

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA202564

rs_563719398

7 SubmittersRCV000177620 RCV000528561 RCV001704845

NM_201384.3(PLEC):c.5873C>T (p.Thr1958Met)

SNV
Germline

Chr8:143924056

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA244047

rs_200715520

4 SubmittersRCV000177622 RCV001085671

NM_201384.3(PLEC):c.5948G>A (p.Arg1983His)

SNV
Germline

Chr8:143923981

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244056

rs_527947459

4 SubmittersRCV000177623 RCV001088197 RCV004955300

NM_201384.3(PLEC):c.7101G>A (p.Thr2367=)

SNV
Germline

Chr8:143922828

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244065

rs_202132558

4 SubmittersRCV000177624 RCV001082061 RCV004737274

NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val)

SNV
Germline

Chr8:143924458

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 1
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244092

rs_542642242

9 SubmittersRCV000177628 RCV000785605 RCV001086527 RCV001704846 RCV002516745 RCV004537442

NM_201384.3(PLEC):c.6198G>T (p.Gln2066His)

SNV
Germline

Chr8:143923731

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244101

rs_201574539

6 SubmittersRCV000177629 RCV000724739 RCV001083891 RCV004537443

NM_201384.3(PLEC):c.6486A>C (p.Ala2162=)

SNV
Germline

Chr8:143923443

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA244110

rs_797044714

2 SubmittersRCV000177630 RCV006555549

NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val)

SNV
Germline

Chr8:143924614

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244119

rs_782439290

7 SubmittersRCV000724704 RCV000764752 RCV001223236 RCV002516746 RCV004737275

NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)

SNV
Germline

Chr2:178773533

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA302955

rs_146970027

17 SubmittersRCV000177667 RCV000221018 RCV000620787 RCV000770121 RCV001080643 RCV001131080 RCV001134033 RCV001131081 RCV001131082 RCV001131079 RCV003227694

NM_201384.3(PLEC):c.8607G>A (p.Glu2869=)

SNV
Germline

Chr8:143921214

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA244195

rs_200819891

2 SubmittersRCV000177677 RCV001088452

NM_201384.3(PLEC):c.13071C>T (p.Cys4357=)

SNV
Germline

Chr8:143916750

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA244226

rs_202153947

4 SubmittersRCV000177685 RCV001078550

NM_201384.3(PLEC):c.13533C>T (p.Ser4511=)

SNV
Germline

Chr8:143916288

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA244235

rs_782669579

2 SubmittersRCV000177686 RCV002054100

NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn)

SNV
Germline

Chr8:143921315

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244253

rs_200814155

8 SubmittersRCV000723606 RCV001082916 RCV004020114 RCV004537445

NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys)

SNV
Germline

Chr8:143919323

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244271

rs_200541837

6 SubmittersRCV000177690 RCV000537688 RCV001704847 RCV004737276

NM_201384.3(PLEC):c.10533C>G (p.Gly3511=)

SNV
Germline

Chr8:143919288

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA244280

rs_782720434

2 SubmittersRCV000177691 RCV003765096

NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln)

SNV
Germline

Chr8:143921770

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular dysplasia 1
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244298

rs_200239963

8 SubmittersRCV000725505 RCV000785606 RCV001080318 RCV004528946

NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)

SNV
Germline

Chr8:143920488

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA244307

rs_188739870

9 SubmittersRCV000177694 RCV000512985 RCV001082161

NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys)

SNV
Germline

Chr8:143917631

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244316

rs_200206105

7 SubmittersRCV000177695 RCV000724010 RCV001083840 RCV004737277

NM_201384.3(PLEC):c.11207C>T (p.Pro3736Leu)

SNV
Germline

Chr8:143918614

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA244352

rs_77146441

6 SubmittersRCV000585029 RCV000557331

NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys)

SNV
Germline

Chr8:143918492

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA244361

rs_538589589

8 SubmittersRCV000177700 RCV000546144 RCV002516747 RCV005361074

NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp)

SNV
Germline

Chr8:143919614

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244397

rs_542488020

5 SubmittersRCV000177704 RCV001218004 RCV003278679

NM_201384.3(PLEC):c.11724G>T (p.Ala3908=)

SNV
Germline

Chr8:143918097

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244415

rs_374595008

3 SubmittersRCV000177706 RCV001450635 RCV004737279

NM_201384.3(PLEC):c.13287C>A (p.Gly4429=)

SNV
Germline

Chr8:143916534

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA244424

rs_782581005

3 SubmittersRCV000177707 RCV000724724 RCV001430462

NM_201384.3(PLEC):c.10413G>A (p.Thr3471=)

SNV
Germline

Chr8:143919408

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA244433

rs_782728053

3 SubmittersRCV000533228 RCV000724524

NM_201384.3(PLEC):c.9567G>A (p.Pro3189=)

SNV
Germline

Chr8:143920254

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA244442

rs_367761849

2 SubmittersRCV000177709 RCV001475027

NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys)

SNV
Germline

Chr8:143920787

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
PLEC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA244451

rs_200898220

8 SubmittersRCV000648559 RCV000724970 RCV004537446 RCV006439707

NM_201384.3(PLEC):c.8617G>A (p.Glu2873Lys)

SNV
Germline

Chr8:143921204

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244460

rs_377748878

5 SubmittersRCV000177711 RCV000724581 RCV000799044 RCV004955301

NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp)

SNV
Germline

Chr8:143920772

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244469

rs_201041716

8 SubmittersRCV000177712 RCV000537168 RCV005237656 RCV003165372

NM_201384.3(PLEC):c.12978C>T (p.Thr4326=)

SNV
Germline

Chr8:143916843

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244487

rs_781832846

3 SubmittersRCV000177714 RCV001078561 RCV004537447

NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr)

SNV
Germline

Chr8:143920346

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244496

rs_201030020

7 SubmittersRCV000712767 RCV001087645 RCV002516748

NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly)

SNV
Germline

Chr8:143917150

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244523

rs_368212208

6 SubmittersRCV000177718 RCV000526784 RCV003362714

NM_201384.3(PLEC):c.7911G>A (p.Ala2637=)

SNV
Germline

Chr8:143921910

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244550

rs_372688821

4 SubmittersRCV000177721 RCV002054101 RCV005702154

NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met)

SNV
Germline

Chr8:143918248

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
6 conditions
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA244559

rs_373863249

6 SubmittersRCV000177722 RCV001078692 RCV005396545 RCV004737280

NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr)

SNV
Germline

Chr8:143916710

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA244577

rs_200361523

8 SubmittersRCV000540878 RCV000725165 RCV002516749 RCV005396546 RCV004700541

NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr)

SNV
Germline

Chr8:143921999

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244622

rs_199995144

7 SubmittersRCV000816099 RCV000724784 RCV002517720

NM_201384.3(PLEC):c.9153C>T (p.Ser3051=)

SNV
Germline

Chr8:143920668

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA244631

rs_200231367

2 SubmittersRCV000177730 RCV001089403

NM_001267550.2(TTN):c.8013C>A (p.Gly2671=)

SNV
Germline

Chr2:178771314

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA244751

rs_369439944

3 SubmittersRCV000177817 RCV001432061 RCV002408770

NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)

SNV
Germline

Chr6:152428359

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Intellectual disability
not specified
SYNE1-related disorder
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA244907

rs_138617999

15 SubmittersRCV000379472 RCV000324886 RCV000560151 RCV000713672 RCV001252118 RCV003317128 RCV004537453 RCV005621902

NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=)

SNV
Germline

Chr2:71612673

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
not specified

Criteria Provided
Conflicting Classifications

CA244985

rs_142769942

6 SubmittersRCV000177975 RCV001084664 RCV001274833 RCV001640271

NM_000023.4(SGCA):c.313-10C>T

SNV
Germline

Chr17:50167937

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA245049

rs_569744194

2 SubmittersRCV000178023 RCV001086455

NM_000070.3(CAPN3):c.525C>T (p.Asp175=)

SNV
Germline

Chr15:42387779

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA245057

rs_144383442

9 SubmittersRCV000178035 RCV000374364 RCV000724809 RCV004732747

NM_001130987.2(DYSF):c.246G>A (p.Leu82=)

SNV
Germline

Chr2:71503220

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA245222

rs_756463088

3 SubmittersRCV000178192 RCV000810796 RCV001832021

NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter)

SNV
Germline

Chr2:71503242

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA275254

rs_794727636

8 SubmittersRCV000178195 RCV000724670 RCV001040341 RCV003462284 RCV005600802

NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)

SNV
Germline

Chr19:46756036

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA245426

rs_759875552

6 SubmittersRCV000178354 RCV000548844 RCV000674993 RCV002492782 RCV004619208 RCV005891951

NM_024301.5(FKRP):c.946C>T (p.Pro316Ser)

SNV
Germline

Chr19:46756396

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA245434

rs_28937901

4 SubmittersRCV000178358 RCV000670956 RCV003468865 RCV002517730

NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)

SNV
Germline

Chr19:46756397

Pathogenic/Likely pathogenic

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Multiple Submitters
No Conflicts

CA245436

rs_752582904

4 SubmittersRCV000263428 RCV001065681 RCV002500502 RCV003462286

NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)

SNV
Germline

Chr11:22218279

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy
ANO5-related disorder
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L

Reviewed By Expert Panel

CA202865

rs_201725369

21 SubmittersRCV000178420 RCV000254777 RCV000684805 RCV001254062 RCV001814090 RCV002282002 RCV004732749 RCV005042389

NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)

SNV
Germline

Chr11:22218262

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Gnathodiaphyseal dysplasia
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases

Criteria Provided
Conflicting Classifications

CA245507

rs_143777403

12 SubmittersRCV000178421 RCV000723959 RCV000988500 RCV001086326 RCV001108714

NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)

SNV
Germline

Chr2:71643988

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA275268

rs_766016391

10 SubmittersRCV000178461 RCV000527540 RCV000724391 RCV002485170 RCV003468866

NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)

SNV
Germline

Chr6:129440891

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Merosin deficient congenital muscular dystrophy
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Intellectual disability
Inborn genetic diseases
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA205852

rs_56035053

19 SubmittersRCV000178515 RCV000192788 RCV000509541 RCV000549092 RCV001154910 RCV001252049 RCV002516776 RCV005621903

NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=)

SNV
Germline

Chr2:71664274

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA245726

rs_151276652

4 SubmittersRCV000178575 RCV001079331 RCV001835707

NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu)

SNV
Germline

Chr2:71667447

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA245812

rs_370866476

4 SubmittersRCV000178627 RCV000813699 RCV001826908 RCV003165373

NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro)

SNV
Germline

Chr2:178735960

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA303009

rs_375177753

9 SubmittersRCV000228945 RCV000725231 RCV000769088 RCV001129331 RCV001129327 RCV001129328 RCV001129329 RCV001129330 RCV006555555

NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)

SNV
Germline

Chr17:50168409

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Sarcoglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA245881

rs_35130237

13 SubmittersRCV000713237 RCV000852723 RCV001122688 RCV001086384

NM_000231.3(SGCG):c.438C>T (p.Asp146=)

SNV
Germline

Chr13:23279411

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA245902

rs_144497243

3 SubmittersRCV000178737 RCV001081116

NM_213599.3(ANO5):c.294G>A (p.Ala98=)

SNV
Germline

Chr11:22221210

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA246289

rs_142858990

9 SubmittersRCV000724236 RCV001085524 RCV001103557 RCV005892001

NM_001267550.2(TTN):c.15775+9A>G

SNV
Germline

Chr2:178733605

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA246307

rs_746563654

3 SubmittersRCV000179078 RCV001082794

NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn)

SNV
Germline

Chr2:178732866

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA246343

rs_794727755

9 SubmittersRCV000179113 RCV000643531 RCV002492786 RCV004734797 RCV005404335

NM_001267550.2(TTN):c.16515T>C (p.Ser5505=)

SNV
Germline

Chr2:178732546

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA246369

rs_201625116

8 SubmittersRCV000723866 RCV001134154 RCV001135651 RCV001086282 RCV001134153 RCV001134155 RCV001135650 RCV005404336 RCV004539678

NM_001267550.2(TTN):c.16551G>A (p.Ser5517=)

SNV
Germline

Chr2:178732510

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA246372

rs_376037792

11 SubmittersRCV000215148 RCV000770098 RCV000724636 RCV001085533 RCV001131185 RCV001130462 RCV001130463 RCV001131183 RCV001131184 RCV004537479

NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)

SNV
Germline

Chr2:71682530

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA246386

rs_143762717

12 SubmittersRCV000724811 RCV001080306 RCV001276873 RCV003243003 RCV003977471

NM_001267550.2(TTN):c.16716A>G (p.Pro5572=)

SNV
Germline

Chr2:178732253

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA246404

rs_367821526

7 SubmittersRCV000713977 RCV001134032 RCV001085832 RCV001135527 RCV001135528 RCV001135529 RCV001135530 RCV006456790

NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)

SNV
Germline

Chr17:50169207

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA246512

rs_760608643

8 SubmittersRCV000648057 RCV000723501 RCV004998385

NM_000023.4(SGCA):c.690G>C (p.Leu230=)

SNV
Germline

Chr17:50169197

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
Sarcoglycanopathy

Criteria Provided
Conflicting Classifications

CA246515

rs_139454982

7 SubmittersRCV000179240 RCV000723474 RCV001084493 RCV001123796

NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)

SNV
Germline

Chr17:50169187

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided
Sarcoglycanopathy

Criteria Provided
Conflicting Classifications

CA246518

rs_201131924

9 SubmittersRCV000248171 RCV000700385 RCV000724711 RCV001123795

NM_017739.4(POMGNT1):c.421-7C>A

SNV
Germline

Chr1:46195931

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
POMGNT1-related disorder
Ovarian serous cystadenocarcinoma
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Lung cancer

Criteria Provided
Conflicting Classifications

CA246764

rs_189274856

11 SubmittersRCV000179495 RCV000263792 RCV000356295 RCV000724803 RCV001081913 RCV001277259 RCV004539682 RCV005892031 RCV005892033 RCV005892032

NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser)

SNV
Germline

Chr2:151640027

Conflicting classifications of pathogenicity

Condition: not provided
Nemaline myopathy 2
Inborn genetic diseases
NEB-related disorder
Limb-girdle muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA246904

rs_201707021

9 SubmittersRCV000179604 RCV001083915 RCV004020152 RCV004553014 RCV005625387 RCV006452490

NM_001267550.2(TTN):c.19744C>T (p.Arg6582Ter)

SNV
Germline

Chr2:178727834

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA246957

rs_794727829

3 SubmittersRCV000179656 RCV000542148 RCV001170093

NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser)

SNV
Germline

Chr2:178727369

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA246977

rs_571231816

9 SubmittersRCV000179667 RCV000643486 RCV002503693 RCV004734798 RCV005404337

NM_000023.4(SGCA):c.789C>A (p.Thr263=)

SNV
Germline

Chr17:50170184

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA247006

rs_769688229

2 SubmittersRCV000179699 RCV001441307

NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter)

SNV
Germline

Chr2:71515749

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA275391

rs_794727851

4 SubmittersRCV000179815 RCV000724796 RCV004567382 RCV006555559

NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)

SNV
Germline

Chr2:71515666

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA247174

rs_150917600

7 SubmittersRCV000656845 RCV000706741 RCV001276722 RCV001336579

NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)

SNV
Germline

Chr2:71515660

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA275400

rs_141497053

7 SubmittersRCV000179859 RCV000984257 RCV002265663 RCV001852238 RCV003468872 RCV005025287

NM_013382.7(POMT2):c.891C>A (p.Thr297=)

SNV
Germline

Chr14:77299487

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA247265

rs_769829396

3 SubmittersRCV000179935 RCV001117495 RCV002516806

NM_013382.7(POMT2):c.890C>T (p.Thr297Ile)

SNV
Germline

Chr14:77299488

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA247268

rs_775548781

5 SubmittersRCV000179936 RCV001852239 RCV004955304

NM_017739.4(POMGNT1):c.549C>T (p.Phe183=)

SNV
Germline

Chr1:46194947

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Muscle eye brain disease
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA247294

rs_140724142

5 SubmittersRCV000179953 RCV001088969 RCV000724831 RCV001275754 RCV004537498

NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)

SNV
Germline

Chr2:178795117

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA247370

rs_375448572

19 SubmittersRCV000217164 RCV000724795 RCV001087195 RCV001134295 RCV001134297 RCV001134298 RCV001134294 RCV001134296 RCV001798633 RCV002399641 RCV004539689

NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)

SNV
Germline

Chr15:42394302

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA247490

rs_794727895

5 SubmittersRCV000180098 RCV001332158 RCV003474937 RCV005055675

NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)

SNV
Germline

Chr7:16258450

Conflicting classifications of pathogenicity

not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
Condition: not provided
Congenital Muscular Dystrophy, alpha-dystroglycan related

Criteria Provided
Conflicting Classifications

CA247575

rs_181099904

10 SubmittersRCV000253188 RCV000544710 RCV001092556 RCV001162651

NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys)

SNV
Germline

Chr7:16258455

Conflicting classifications of pathogenicity

not specified
Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247577

rs_185594460

8 SubmittersRCV000248399 RCV000303108 RCV000534203 RCV001092557

NM_001267550.2(TTN):c.24019C>T (p.Arg8007Ter)

SNV
Germline

Chr2:178719371

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA247870

rs_794727941

3 SubmittersRCV000180408 RCV001228758

NM_001267550.2(TTN):c.25480C>T (p.Arg8494Ter)

SNV
Germline

Chr2:178717254

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA247894

rs_794727945

3 SubmittersRCV000180426 RCV000642705

NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu)

SNV
Germline

Chr2:178715244

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247912

rs_188234466

5 SubmittersRCV000222950 RCV000286098 RCV000280133 RCV000329768 RCV000335156 RCV000392294 RCV000724263

NM_012470.4(TNPO3):c.1179T>C (p.Thr393=)

SNV
Germline

Chr7:128993894

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA248158

rs_769500215

2 SubmittersRCV000180641 RCV001469282

NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr)

SNV
Germline

Chr2:178793493

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA248252

rs_34337578

8 SubmittersRCV000180698 RCV000300935 RCV000340586 RCV000406894 RCV000353413 RCV000401699 RCV000550205 RCV002390446 RCV005404339

NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)

SNV
Germline

Chr6:152293983

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Intellectual disability
not specified
SYNE1-related disorder
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA248323

rs_147998933

15 SubmittersRCV000261210 RCV000297752 RCV000542124 RCV000710246 RCV001252117 RCV003317130 RCV004537517 RCV005621905

NM_001267550.2(TTN):c.28547G>A (p.Arg9516His)

SNV
Germline

Chr2:178709772

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA203815

rs_374156904

14 SubmittersRCV000180762 RCV000232509 RCV000250709 RCV000769900 RCV001133625 RCV001135122 RCV001133626 RCV001135121 RCV001135123 RCV001721131 RCV004537519

NM_001267550.2(TTN):c.28983G>A (p.Val9661=)

SNV
Germline

Chr2:178707584

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA248347

rs_794727991

2 SubmittersRCV000180766 RCV002054160

NM_000337.6(SGCD):c.402T>C (p.Ala134=)

SNV
Germline

Chr5:156594951

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA308776

rs_190935424

8 SubmittersRCV000183898 RCV000725606 RCV000770206 RCV001082935 RCV003165409

NM_003673.4(TCAP):c.110+5G>T

SNV
Germline

Chr17:39665474

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2G

Criteria Provided
Multiple Submitters
No Conflicts

CA308852

rs_794729178

2 SubmittersRCV000183932 RCV003992214

NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)

SNV
Germline

Chr17:39665718

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy 25
Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 25
Autosomal recessive limb-girdle muscular dystrophy type 2G
Hypertrophic cardiomyopathy
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308835

rs_375310569

11 SubmittersRCV000487833 RCV000560917 RCV000660576 RCV000991354 RCV001797668 RCV002453666

NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)

SNV
Germline

Chr2:178527491

Pathogenic/Likely pathogenic

Waddling gait
Limb-girdle muscular dystrophy
Muscular dystrophy
Decreased patellar reflex
Proximal lower limb amyotrophy
Rimmed vacuoles
Myopathy
Lower limb muscle weakness
Limb-girdle muscle weakness
Limb-girdle muscle atrophy
Condition: not provided
Lower limb muscle weakness
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
TTN-related myopathy
TTN-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Neuromuscular disease
Dilated cardiomyopathy 1G
Autosomal recessive titinopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309520

rs_757082154

15 SubmittersRCV000414825 RCV000414850 RCV000415078 RCV000735131 RCV000714746 RCV001383196 RCV001808462 RCV003228796 RCV002516949 RCV004528965 RCV004771466 RCV004017470 RCV005621907 RCV006452497 RCV004992074

NM_001267550.2(TTN):c.107517T>G (p.Ser35839Arg)

SNV
Germline

Chr2:178527609

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311295

rs_776981475

5 SubmittersRCV000534043 RCV000734760 RCV002408824

NM_001267550.2(TTN):c.107339G>A (p.Arg35780His)

SNV
Germline

Chr2:178528312

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311289

rs_770904787

4 SubmittersRCV000185144 RCV000643585 RCV002492847 RCV003486760

NM_001267550.2(TTN):c.107200G>A (p.Glu35734Lys)

SNV
Germline

Chr2:178528551

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA311283

rs_374992991

3 SubmittersRCV000726867 RCV001852410

NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)

SNV
Germline

Chr2:178528646

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
Hypertrophic cardiomyopathy
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311280

rs_772957495

8 SubmittersRCV000544128 RCV000727225 RCV000764291 RCV000852484 RCV002469051 RCV002415797

NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile)

SNV
Germline

Chr2:178528824

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311266

rs_754459138

5 SubmittersRCV000618422 RCV000727495 RCV001300616 RCV003458164

NM_001267550.2(TTN):c.106133C>G (p.Ala35378Gly)

SNV
Germline

Chr2:178530482

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311252

rs_555476312

3 SubmittersRCV000534220 RCV001721176

NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr)

SNV
Germline

Chr2:178530675

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311244

rs_377171054

6 SubmittersRCV000642996 RCV000713957 RCV003486759

NM_001267550.2(TTN):c.105755G>A (p.Arg35252Gln)

SNV
Germline

Chr2:178530860

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311238

rs_368151146

5 SubmittersRCV000185126 RCV000274755 RCV000271197 RCV000331942 RCV000363562 RCV000328540 RCV000728009

NM_001267550.2(TTN):c.105512C>T (p.Thr35171Ile)

SNV
Germline

Chr2:178531103

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311235

rs_774524898

5 SubmittersRCV000261339 RCV000322851 RCV000319264 RCV000379527 RCV000376209 RCV000643648 RCV001704941 RCV002408823

NM_001267550.2(TTN):c.105491G>A (p.Arg35164His)

SNV
Germline

Chr2:178531124

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311232

rs_768358201

3 SubmittersRCV000459954 RCV000997317

NM_001267550.2(TTN):c.105482C>A (p.Thr35161Asn)

SNV
Germline

Chr2:178531133

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311229

rs_372263729

4 SubmittersRCV000185121 RCV000525111 RCV002408822 RCV003150076

NM_001267550.2(TTN):c.105391A>G (p.Ile35131Val)

SNV
Germline

Chr2:178531224

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA311220

rs_779464128

3 SubmittersRCV000218623 RCV000997320 RCV001352152

NM_001267550.2(TTN):c.105049A>G (p.Thr35017Ala)

SNV
Germline

Chr2:178531566

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA311205

rs_368779151

5 SubmittersRCV000185112 RCV002516954

NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met)

SNV
Germline

Chr2:178531637

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Left ventricular noncompaction 2
not specified

Criteria Provided
Conflicting Classifications

CA311202

rs_368945564

6 SubmittersRCV000727168 RCV001366707 RCV001331658 RCV005406912

NM_001267550.2(TTN):c.104953A>G (p.Ser34985Gly)

SNV
Germline

Chr2:178531662

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311199

rs_765030518

2 SubmittersRCV000643178 RCV001704940

NM_001267550.2(TTN):c.104796T>G (p.Ser34932Arg)

SNV
Germline

Chr2:178531819

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA311196

rs_794729566

3 SubmittersRCV001704939 RCV001852407

NM_001267550.2(TTN):c.104605G>A (p.Glu34869Lys)

SNV
Germline

Chr2:178532010

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311193

rs_563430855

6 SubmittersRCV000185108 RCV000726883 RCV000643758 RCV002399693

NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln)

SNV
Germline

Chr2:178532096

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311184

rs_199710082

8 SubmittersRCV000458275 RCV001170287 RCV000727494 RCV002399691

NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)

SNV
Germline

Chr2:178532201

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311178

rs_115150240

9 SubmittersRCV000467913 RCV000595276 RCV000726382 RCV002399690

NM_001267550.2(TTN):c.104093G>A (p.Arg34698Gln)

SNV
Germline

Chr2:178532522

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA311166

rs_757940030

2 SubmittersRCV000185098 RCV002516953

NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp)

SNV
Germline

Chr2:178532706

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA311160

rs_200716930

5 SubmittersRCV000223175 RCV000727452 RCV000466888

NM_001267550.2(TTN):c.103679A>G (p.Lys34560Arg)

SNV
Germline

Chr2:178532936

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311157

rs_544590023

4 SubmittersRCV000185094 RCV000459723 RCV003488440 RCV003486758

NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln)

SNV
Germline

Chr2:178533039

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309135

rs_770742837

9 SubmittersRCV000184181 RCV000553885 RCV000725161 RCV000622095

NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr)

SNV
Germline

Chr2:178533185

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311151

rs_751914956

7 SubmittersRCV000185092 RCV000462205 RCV000727152 RCV001130308 RCV001130307 RCV001131014 RCV001131015 RCV001130309 RCV002390483

NM_001267550.2(TTN):c.102696C>T (p.Val34232=)

SNV
Germline

Chr2:178533919

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA308978

rs_202180775

8 SubmittersRCV000184117 RCV000249663 RCV000725665 RCV001089410 RCV004537539

NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg)

SNV
Germline

Chr2:178533958

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311139

rs_370077023

8 SubmittersRCV000544778 RCV000725232 RCV001844076 RCV002390482

NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln)

SNV
Germline

Chr2:178534091

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311136

rs_201954720

6 SubmittersRCV000185086 RCV000530236 RCV001704936 RCV002390481 RCV004734823

NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser)

SNV
Germline

Chr2:178535109

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311127

rs_766439271

8 SubmittersRCV000213403 RCV000535734 RCV000725169 RCV002381618

NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=)

SNV
Germline

Chr2:178535239

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA308975

rs_367732133

17 SubmittersRCV000184116 RCV000262541 RCV000231588 RCV000332750 RCV000367647 RCV000382589 RCV000331702 RCV000620355 RCV000769859 RCV001726030 RCV004539715

NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter)

SNV
Germline

Chr2:178535388

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309376

rs_794729305

5 SubmittersRCV000184287 RCV000621263 RCV000706242 RCV002500557 RCV005222810

NM_001267550.2(TTN):c.101213G>A (p.Arg33738His)

SNV
Germline

Chr2:178535402

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311124

rs_192391568

5 SubmittersRCV000470343 RCV001721175 RCV002381617 RCV003317136 RCV003486757

NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)

SNV
Germline

Chr2:178536300

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
6 conditions
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311106

rs_368321767

18 SubmittersRCV000283303 RCV000305798 RCV000392156 RCV000353303 RCV000340707 RCV000617715 RCV000537271 RCV000713947 RCV000764297 RCV001270047 RCV002282014 RCV003486756

NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)

SNV
Germline

Chr2:178536315

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
6 conditions
6 conditions
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311103

rs_372304158

14 SubmittersRCV000369666 RCV000356693 RCV000299494 RCV000331220 RCV000390641 RCV000524719 RCV000621440 RCV000713946 RCV000764298 RCV001270048 RCV002282013 RCV003486755

NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr)

SNV
Germline

Chr2:178537163

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311091

rs_374295768

6 SubmittersRCV000727859 RCV001085795 RCV002381616 RCV004525889 RCV004539727

NM_001267550.2(TTN):c.98989+1G>A

SNV
Germline

Chr2:178538945

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309375

rs_112240298

4 SubmittersRCV000184286 RCV000217239 RCV001225100 RCV002372129

NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe)

SNV
Germline

Chr2:178538975

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
6 conditions
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311070

rs_746380940

5 SubmittersRCV000185057 RCV000292971 RCV000296474 RCV000338679 RCV000351408 RCV000477773 RCV000387180 RCV000766991

NM_001267550.2(TTN):c.98959T>C (p.Ser32987Pro)

SNV
Germline

Chr2:178538976

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311067

rs_758494581

4 SubmittersRCV000303989 RCV000358712 RCV000185056 RCV000298988 RCV000335265 RCV000392376 RCV001704935

NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys)

SNV
Germline

Chr2:178539460

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311058

rs_186244950

7 SubmittersRCV000468025 RCV000727860 RCV001132339 RCV001132341 RCV001133261 RCV001133262 RCV001132340 RCV002362970

NM_001267550.2(TTN):c.97612C>T (p.Arg32538Cys)

SNV
Germline

Chr2:178541465

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309132

rs_761050391

5 SubmittersRCV000184180 RCV000642927 RCV000997342 RCV001170527

NM_001267550.2(TTN):c.97442G>A (p.Gly32481Glu)

SNV
Germline

Chr2:178542314

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA311022

rs_201364164

6 SubmittersRCV000528741 RCV000734030 RCV003150075 RCV005237676

NM_001267550.2(TTN):c.97435C>A (p.Arg32479Ser)

SNV
Germline

Chr2:178542321

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311019

rs_200148139

4 SubmittersRCV000267740 RCV000281918 RCV000275218 RCV000318676 RCV000377474 RCV000375642 RCV000642928 RCV001704932

NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)

SNV
Germline

Chr2:178542509

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311016

rs_377412567

6 SubmittersRCV000469120 RCV001721174 RCV001844075 RCV002372136 RCV004537562

NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter)

SNV
Germline

Chr2:178543276

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309517

rs_781171206

3 SubmittersRCV000184397 RCV001852398 RCV002362952

NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn)

SNV
Germline

Chr2:178543336

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311010

rs_764561909

7 SubmittersRCV000458037 RCV000730978 RCV000764304 RCV002362967

NM_001267550.2(TTN):c.96310+2T>G

SNV
Germline

Chr2:178543832

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA309373

rs_794729303

3 SubmittersRCV000184283 RCV002372128 RCV005222809

NM_001267550.2(TTN):c.96225T>A (p.Val32075=)

SNV
Germline

Chr2:178543919

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309514

rs_752745266

5 SubmittersRCV000726252 RCV001088651 RCV002362951

NM_001267550.2(TTN):c.96016G>A (p.Val32006Met)

SNV
Germline

Chr2:178544213

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA310995

rs_191786700

15 SubmittersRCV000327957 RCV000643238 RCV001086209 RCV002362966 RCV005625395

NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln)

SNV
Germline

Chr2:178544356

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310989

rs_763270971

6 SubmittersRCV000351155 RCV000227090 RCV000298510 RCV000315003 RCV000400495 RCV000398498 RCV000765537 RCV001721172

NM_001267550.2(TTN):c.94774G>A (p.Val31592Ile)

SNV
Germline

Chr2:178546654

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA310959

rs_370918800

3 SubmittersRCV000234555 RCV001132852 RCV001132853 RCV001136261 RCV001136260 RCV001721171 RCV001136259

NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala)

SNV
Germline

Chr2:178546875

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310953

rs_377016580

11 SubmittersRCV000217908 RCV000468035 RCV000728623 RCV001132941 RCV001131992 RCV001132938 RCV001132939 RCV001132940 RCV004537560

NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser)

SNV
Germline

Chr2:178547243

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Tibial muscular dystrophy
not specified
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA310944

rs_190282707

9 SubmittersRCV000727765 RCV000695149 RCV000765540 RCV001196687 RCV005404364 RCV005365108

NM_001267550.2(TTN):c.94157A>C (p.Glu31386Ala)

SNV
Germline

Chr2:178547469

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA310938

rs_772833696

3 SubmittersRCV000185001 RCV000643541

NM_001267550.2(TTN):c.94075G>A (p.Val31359Ile)

SNV
Germline

Chr2:178547551

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA310935

rs_780436747

4 SubmittersRCV001136383 RCV001136385 RCV001136384 RCV001136386 RCV001704930 RCV002362963 RCV001136387

NM_001267550.2(TTN):c.93524G>A (p.Arg31175His)

SNV
Germline

Chr2:178548102

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310920

rs_72648251

14 SubmittersRCV000302003 RCV000305405 RCV000356493 RCV000360124 RCV000399391 RCV000725160 RCV001086637 RCV002362961 RCV004725033

NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)

SNV
Germline

Chr2:178548927

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310908

rs_186234393

11 SubmittersRCV000249807 RCV000373149 RCV000461639 RCV000768859 RCV001084202 RCV001293190 RCV004537559

NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn)

SNV
Germline

Chr2:178549036

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310905

rs_200621611

6 SubmittersRCV000280857 RCV000268053 RCV000319148 RCV000360353 RCV000377684 RCV000643867 RCV001704928 RCV002271448 RCV002362960

NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter)

SNV
Germline

Chr2:178549309

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA309367

rs_794729301

8 SubmittersRCV000184281 RCV000619760 RCV001212639 RCV002469050

NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys)

SNV
Germline

Chr2:178551132

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310881

rs_775591945

8 SubmittersRCV000461669 RCV000714115 RCV001170306 RCV002362958 RCV005404363

NM_001267550.2(TTN):c.91352G>A (p.Gly30451Asp)

SNV
Germline

Chr2:178551179

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310872

rs_751610164

8 SubmittersRCV000288065 RCV000274131 RCV000394225 RCV000347762 RCV000284310 RCV000339329 RCV000457893 RCV000725303 RCV002362957

NM_001267550.2(TTN):c.91199A>T (p.Tyr30400Phe)

SNV
Germline

Chr2:178551701

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310866

rs_376494747

4 SubmittersRCV000459434 RCV002362956 RCV001721169

NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser)

SNV
Germline

Chr2:178551909

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310855

rs_75022916

9 SubmittersRCV000184964 RCV000618251 RCV000697121 RCV000728236 RCV004528966

NM_001267550.2(TTN):c.90968G>C (p.Arg30323Thr)

SNV
Germline

Chr2:178551932

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310852

rs_11887722

5 SubmittersRCV000184963 RCV000559240 RCV001721168

NM_001267550.2(TTN):c.90913T>C (p.Tyr30305His)

SNV
Germline

Chr2:178551987

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310849

rs_544353741

5 SubmittersRCV000184962 RCV000951969 RCV001293132 RCV001170307 RCV003137740

NM_001267550.2(TTN):c.90870C>T (p.Val30290=)

SNV
Germline

Chr2:178552030

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310846

rs_794729527

3 SubmittersRCV000184961 RCV002054187 RCV003165417

NM_001267550.2(TTN):c.89280T>A (p.Tyr29760Ter)

SNV
Germline

Chr2:178553725

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA309511

rs_794729385

2 SubmittersRCV000184395 RCV001852397

NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter)

SNV
Germline

Chr2:178554510

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309364

rs_794729300

5 SubmittersRCV000184280 RCV001049626 RCV002354499 RCV002466463

NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)

SNV
Germline

Chr2:178554627

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310790

rs_200513274

12 SubmittersRCV000223660 RCV000301842 RCV000307858 RCV000396053 RCV000404508 RCV000359092 RCV000509283 RCV000526235 RCV000727677 RCV002354516 RCV004537558

NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg)

SNV
Germline

Chr2:178554963

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310778

rs_72648234

8 SubmittersRCV000184934 RCV000643904 RCV000725754 RCV002354514

NM_001267550.2(TTN):c.87751C>T (p.Arg29251Ter)

SNV
Germline

Chr2:178557511

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309361

rs_794729299

3 SubmittersRCV000184279 RCV001379937 RCV002354498

NM_001267550.2(TTN):c.87632G>A (p.Arg29211His)

SNV
Germline

Chr2:178557722

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA309120

rs_370948914

2 SubmittersRCV000184176 RCV000470417

NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg)

SNV
Germline

Chr2:178557743

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310756

rs_72648228

9 SubmittersRCV000184921 RCV000246125 RCV000727722 RCV001086279 RCV004539725

NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys)

SNV
Germline

Chr2:178558074

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310747

rs_199501185

8 SubmittersRCV000299316 RCV000259204 RCV000305120 RCV000359745 RCV000406021 RCV000540529 RCV000727727 RCV002354512

NM_001267550.2(TTN):c.86640C>G (p.Tyr28880Ter)

SNV
Germline

Chr2:178559492

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309358

rs_794729298

3 SubmittersRCV000184277 RCV001379237 RCV005502763

NM_001267550.2(TTN):c.86474T>G (p.Leu28825Ter)

SNV
Germline

Chr2:178559658

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA309355

rs_794729297

3 SubmittersRCV000184276 RCV000814982 RCV004545757

NM_001267550.2(TTN):c.86420G>A (p.Arg28807His)

SNV
Germline

Chr2:178559712

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA310731

rs_375800916

5 SubmittersRCV000470222 RCV001129504 RCV001132230 RCV001132232 RCV001704926 RCV002354509 RCV005437980 RCV001132229 RCV001132231

NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter)

SNV
Germline

Chr2:178560016

Pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309504

rs_794729384

5 SubmittersRCV000184392 RCV000697694 RCV001594384 RCV002354500

NM_001267550.2(TTN):c.86002A>G (p.Ile28668Val)

SNV
Germline

Chr2:178560130

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310728

rs_72648225

5 SubmittersRCV000525045 RCV001134632 RCV001134629 RCV001134631 RCV001134633 RCV001134630 RCV001704925 RCV002354508 RCV003330547

NM_001267550.2(TTN):c.85450G>A (p.Asp28484Asn)

SNV
Germline

Chr2:178560682

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310722

rs_56330345

5 SubmittersRCV000643365 RCV001704924 RCV002354507 RCV005418000

NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu)

SNV
Germline

Chr2:178561017

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA310719

rs_190721759

9 SubmittersRCV000184906 RCV000461663 RCV002298512 RCV002354506 RCV002500561

NM_001267550.2(TTN):c.85091G>A (p.Arg28364Gln)

SNV
Germline

Chr2:178561041

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA310716

rs_376283153

5 SubmittersRCV000529144 RCV001704923 RCV005404361

NM_001267550.2(TTN):c.84964C>T (p.Arg28322Cys)

SNV
Germline

Chr2:178561168

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310710

rs_774978209

3 SubmittersRCV000233244 RCV001704922

NM_001267550.2(TTN):c.84897G>A (p.Trp28299Ter)

SNV
Germline

Chr2:178561235

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA309352

rs_794729296

3 SubmittersRCV000184275 RCV003765149

NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe)

SNV
Germline

Chr2:178561747

Conflicting classifications of pathogenicity

6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310701

rs_752974639

5 SubmittersRCV000764309 RCV001129924 RCV001129926 RCV001129923 RCV001129925 RCV001134957 RCV001170780 RCV001704921

NM_001267550.2(TTN):c.83653G>T (p.Glu27885Ter)

SNV
Germline

Chr2:178562479

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA309349

rs_794729295

2 SubmittersRCV000184274 RCV003765148

NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr)

SNV
Germline

Chr2:178563378

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Tip-toe gait
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310674

rs_72648215

8 SubmittersRCV000222951 RCV000234626 RCV000725384 RCV002227935 RCV004537556

NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter)

SNV
Germline

Chr2:178563493

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309345

rs_779874042

4 SubmittersRCV000184272 RCV000702305 RCV002500556 RCV002345649

NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp)

SNV
Germline

Chr2:178563550

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA310671

rs_749852593

6 SubmittersRCV000184886 RCV000459776 RCV000734347 RCV002345659 RCV002485250

NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter)

SNV
Germline

Chr2:178563892

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Third degree atrioventricular block
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA309342

rs_766840243

7 SubmittersRCV000184271 RCV001241231 RCV002305453 RCV002345648 RCV006452495

NM_001267550.2(TTN):c.81758A>G (p.Asn27253Ser)

SNV
Germline

Chr2:178564374

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310659

rs_529055709

5 SubmittersRCV000223209 RCV000463691 RCV001535416 RCV002345658

NM_001267550.2(TTN):c.81337G>T (p.Glu27113Ter)

SNV
Germline

Chr2:178564795

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309336

rs_794729292

2 SubmittersRCV000184269 RCV003765147

NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val)

SNV
Germline

Chr2:178564830

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Left ventricular hypertrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310647

rs_201490050

10 SubmittersRCV000184873 RCV000619230 RCV000678759 RCV001086421 RCV001706158 RCV004537555

NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter)

SNV
Germline

Chr2:178565282

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309333

rs_794729291

4 SubmittersRCV000184268 RCV000699369 RCV003165415

NM_001267550.2(TTN):c.79856G>A (p.Arg26619His)

SNV
Germline

Chr2:178566276

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310617

rs_530507211

5 SubmittersRCV000184862 RCV000270696 RCV000283370 RCV000323369 RCV000322095 RCV000380163 RCV001085916 RCV002345656

NM_001267550.2(TTN):c.78697G>T (p.Glu26233Ter)

SNV
Germline

Chr2:178567435

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA309327

rs_267599036

2 SubmittersRCV000184266 RCV003765146

NM_001267550.2(TTN):c.78446C>G (p.Thr26149Ser)

SNV
Germline

Chr2:178567686

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310599

rs_191263181

5 SubmittersRCV000184854 RCV000529796 RCV002345655 RCV001721162

NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)

SNV
Germline

Chr2:178567954

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309324

rs_794729289

6 SubmittersRCV000184265 RCV000703198 RCV002503725 RCV002336475

NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr)

SNV
Germline

Chr2:178568478

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309108

rs_199514898

7 SubmittersRCV000643839 RCV000727067 RCV001133727 RCV001130754 RCV001133726 RCV001130755 RCV001130756 RCV004800322 RCV002336471

NM_001267550.2(TTN):c.77437C>T (p.Gln25813Ter)

SNV
Germline

Chr2:178568695

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309318

rs_794729287

3 SubmittersRCV000184263 RCV001852387 RCV002336474

NM_001267550.2(TTN):c.77188A>G (p.Ile25730Val)

SNV
Germline

Chr2:178568944

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310560

rs_745981754

2 SubmittersRCV000472984 RCV001721161

NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=)

SNV
Germline

Chr2:178569089

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA308968

rs_370810609

5 SubmittersRCV000184113 RCV000727528 RCV000617482 RCV001089107

NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp)

SNV
Germline

Chr2:178570113

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310523

rs_200287703

8 SubmittersRCV000598033 RCV000725582 RCV001087946 RCV002327009 RCV003150072 RCV004539722

NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser)

SNV
Germline

Chr2:178570450

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310517

rs_377226540

6 SubmittersRCV000714093 RCV001083823 RCV002336489

NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val)

SNV
Germline

Chr2:178570771

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310511

rs_199508062

7 SubmittersRCV000217890 RCV000727705 RCV001088038 RCV002336488

NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter)

SNV
Germline

Chr2:178570804

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309498

rs_794729382

7 SubmittersRCV000184390 RCV000532259 RCV002336479 RCV002485237 RCV004786510

NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter)

SNV
Germline

Chr2:178570882

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309315

rs_794729286

5 SubmittersRCV000184262 RCV001377801 RCV002336473 RCV004764910

NM_001267550.2(TTN):c.74564C>T (p.Thr24855Ile)

SNV
Germline

Chr2:178571568

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310496

rs_759432194

4 SubmittersRCV000184814 RCV001129081 RCV001129080 RCV001136048 RCV001136046 RCV001136047 RCV002336487 RCV003137736

NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala)

SNV
Germline

Chr2:178571619

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309094

rs_200723435

7 SubmittersRCV000184166 RCV000643768 RCV000726819 RCV002336469

NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter)

SNV
Germline

Chr2:178571794

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA309312

rs_794729285

8 SubmittersRCV000184261 RCV000208904 RCV001381840 RCV002336472 RCV002503724 RCV004764909 RCV005252793

NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp)

SNV
Germline

Chr2:178571827

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1S
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310493

rs_372787601

7 SubmittersRCV000216196 RCV000225993 RCV000491424 RCV002336486 RCV001704919

NM_001267550.2(TTN):c.74144C>T (p.Pro24715Leu)

SNV
Germline

Chr2:178571988

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310487

rs_55713856

7 SubmittersRCV000184811 RCV000469626 RCV000734356 RCV001131758 RCV001131759 RCV001131760 RCV001131761 RCV001132750 RCV002336485

NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter)

SNV
Germline

Chr2:178572286

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309309

rs_794729284

6 SubmittersRCV000184260 RCV000689621 RCV002327001 RCV002485234 RCV004017469 RCV004764908

NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile)

SNV
Germline

Chr2:178572798

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310472

rs_377334665

8 SubmittersRCV000184806 RCV000228035 RCV000769949 RCV000731480

NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys)

SNV
Germline

Chr2:178572829

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
See cases
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310469

rs_200028088

11 SubmittersRCV000184805 RCV000643177 RCV001704918 RCV001197045 RCV002336483

NM_001267550.2(TTN):c.72826A>T (p.Thr24276Ser)

SNV
Germline

Chr2:178573306

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310463

rs_373204984

5 SubmittersRCV000472425 RCV001704917 RCV002336482

NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile)

SNV
Germline

Chr2:178573308

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA310460

rs_199860952

11 SubmittersRCV000231472 RCV000622032 RCV000735005 RCV004537553 RCV004700558

NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)

SNV
Germline

Chr2:178574131

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309088

rs_180828370

8 SubmittersRCV000184164 RCV000727333 RCV001088146 RCV002326998

NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile)

SNV
Germline

Chr2:178574343

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310433

rs_752648041

10 SubmittersRCV000184788 RCV000463338 RCV000727489 RCV001798654 RCV002327005 RCV004734820

NM_001267550.2(TTN):c.71563G>T (p.Gly23855Ter)

SNV
Germline

Chr2:178574569

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309495

rs_794729381

2 SubmittersRCV000184389 RCV002516948

NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala)

SNV
Germline

Chr2:178575562

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310409

rs_369526268

6 SubmittersRCV000643517 RCV000764321 RCV001721160

NM_001267550.2(TTN):c.70282G>T (p.Val23428Leu)

SNV
Germline

Chr2:178575850

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310397

rs_794729486

4 SubmittersRCV000184772 RCV000554673 RCV006445539

NM_001267550.2(TTN):c.70163G>A (p.Arg23388Gln)

SNV
Germline

Chr2:178575969

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310394

rs_55853138

5 SubmittersRCV000456852 RCV000726869

NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter)

SNV
Germline

Chr2:178575970

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA309303

rs_781540455

7 SubmittersRCV000184256 RCV000554185 RCV001000060 RCV002327000 RCV004764907 RCV006456803

NM_001267550.2(TTN):c.69250C>T (p.Arg23084Ter)

SNV
Germline

Chr2:178577085

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309299

rs_794729281

6 SubmittersRCV000184254 RCV002516945 RCV004796077 RCV004764906 RCV005502762

NM_001267550.2(TTN):c.68728G>A (p.Gly22910Arg)

SNV
Germline

Chr2:178577698

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA309082

rs_794729245

2 SubmittersRCV000184161 RCV000643673

NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln)

SNV
Germline

Chr2:178579324

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310367

rs_185620750

8 SubmittersRCV000184752 RCV000220102 RCV000469752 RCV000620954 RCV004537552

NM_001267550.2(TTN):c.67636G>A (p.Val22546Met)

SNV
Germline

Chr2:178579561

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA309079

rs_794729244

2 SubmittersRCV000184160 RCV001852382

NM_001267550.2(TTN):c.67118T>A (p.Val22373Asp)

SNV
Germline

Chr2:178580169

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA309076

rs_774568339

2 SubmittersRCV000184159 RCV000538779

NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg)

SNV
Germline

Chr2:178583009

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA310322

rs_373636513

8 SubmittersRCV000643672 RCV001311238 RCV001798653

NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr)

SNV
Germline

Chr2:178583667

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310313

rs_56378177

8 SubmittersRCV000341773 RCV000356447 RCV000262020 RCV000298416 RCV000406787 RCV000557186 RCV001721159 RCV004586607 RCV002354501

NM_001267550.2(TTN):c.65182C>G (p.Leu21728Val)

SNV
Germline

Chr2:178584369

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310310

rs_781121273

4 SubmittersRCV000184727 RCV001129617 RCV001129618 RCV001129619 RCV001129620 RCV001129621 RCV005025298 RCV005632293

NM_001267550.2(TTN):c.65144G>T (p.Arg21715Leu)

SNV
Germline

Chr2:178584407

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310307

rs_368450785

5 SubmittersRCV000184726 RCV000260739 RCV000358672 RCV000319553 RCV000462751 RCV000262099 RCV000302097 RCV003137729

NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu)

SNV
Germline

Chr2:178584458

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310301

rs_371581072

6 SubmittersRCV000205027 RCV001134729 RCV001134731 RCV001134732 RCV001134728 RCV001134730 RCV001721158 RCV002345654 RCV004537549

NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)

SNV
Germline

Chr2:178584552

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA309296

rs_794729280

5 SubmittersRCV000184250 RCV001203632 RCV003128233 RCV002345647 RCV002485233

NM_001267550.2(TTN):c.64195G>A (p.Asp21399Asn)

SNV
Germline

Chr2:178586706

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA310264

rs_749018114

3 SubmittersRCV000326464 RCV000267919 RCV000320752 RCV000377730 RCV000360194 RCV001711472 RCV003150070

NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn)

SNV
Germline

Chr2:178587516

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
6 conditions
Cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA310261

rs_794729474

9 SubmittersRCV000184710 RCV000460249 RCV001329653 RCV002485246 RCV003486751 RCV002453683 RCV006249603 RCV006456806

NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln)

SNV
Germline

Chr2:178587683

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA309070

rs_148684589

6 SubmittersRCV000243001 RCV001130199 RCV001130201 RCV001130200 RCV000714067 RCV001130197 RCV001130198 RCV001328447

NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter)

SNV
Germline

Chr2:178587684

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309293

rs_794729279

5 SubmittersRCV000184249 RCV000686313 RCV004020243

NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys)

SNV
Germline

Chr2:178587732

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA310252

rs_376800688

12 SubmittersRCV000221791 RCV000462190 RCV000725480 RCV001170813 RCV002453682 RCV005396559

NM_001267550.2(TTN):c.63109C>T (p.Arg21037Cys)

SNV
Germline

Chr2:178588616

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA310227

rs_191549948

7 SubmittersRCV000643775 RCV000997432 RCV001133993 RCV001131031 RCV001133991 RCV001133992 RCV001133994 RCV002336480 RCV003150069 RCV005404359

NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter)

SNV
Germline

Chr2:178588700

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309491

rs_368452607

5 SubmittersRCV000184387 RCV000209637 RCV001044504 RCV001798648 RCV004020245

NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val)

SNV
Germline

Chr2:178588730

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310218

rs_568886353

6 SubmittersRCV000307778 RCV000322078 RCV000276032 RCV000376658 RCV000362515 RCV001293203 RCV001704912 RCV002460055 RCV005237675

NM_001267550.2(TTN):c.62723G>A (p.Arg20908Gln)

SNV
Germline

Chr2:178589002

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310212

rs_377203669

6 SubmittersRCV000867267 RCV001081873 RCV002453681 RCV006456805

NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln)

SNV
Germline

Chr2:178589218

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310209

rs_201693851

7 SubmittersRCV000559556 RCV000726175 RCV001798652 RCV002453680

NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly)

SNV
Germline

Chr2:178589293

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310206

rs_72646849

9 SubmittersRCV000184692 RCV000251314 RCV000727721 RCV001079582 RCV004539720

NM_001267550.2(TTN):c.62425G>A (p.Ala20809Thr)

SNV
Germline

Chr2:178589300

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310203

rs_532844402

8 SubmittersRCV000184691 RCV000229909 RCV001135742 RCV001171288 RCV001134248 RCV001134249 RCV001134250 RCV001135743 RCV002453679

NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met)

SNV
Germline

Chr2:178589408

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309064

rs_375173874

7 SubmittersRCV000184155 RCV000531028 RCV000727330 RCV002453671

NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)

SNV
Germline

Chr2:178590170

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
6 conditions
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309290

rs_794729278

9 SubmittersRCV001052127 RCV002223811 RCV001798646 RCV002503723 RCV003227468 RCV002453672

NM_001267550.2(TTN):c.61484G>A (p.Arg20495His)

SNV
Germline

Chr2:178590241

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA310188

rs_775137607

7 SubmittersRCV000184684 RCV000268605 RCV000272273 RCV000322465 RCV000316760 RCV000373464 RCV000550550 RCV001288576 RCV003150068

NM_001267550.2(TTN):c.60146G>A (p.Arg20049His)

SNV
Germline

Chr2:178591673

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA310164

rs_200455644

10 SubmittersRCV000215982 RCV000555451 RCV001704910 RCV002453676 RCV005396558

NM_001267550.2(TTN):c.60121C>T (p.Gln20041Ter)

SNV
Germline

Chr2:178591698

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA309287

rs_794729277

2 SubmittersRCV000184245 RCV001852386

NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly)

SNV
Germline

Chr2:178592247

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA310149

rs_755949982

5 SubmittersRCV000534467 RCV000727715 RCV003226240

NM_001267550.2(TTN):c.59353G>T (p.Glu19785Ter)

SNV
Germline

Chr2:178592652

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA309280

rs_794729276

3 SubmittersRCV000184242 RCV002321740 RCV006555580

NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser)

SNV
Germline

Chr2:178592837

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310146

rs_563969986

7 SubmittersRCV000184664 RCV000460043 RCV000619810 RCV001132248 RCV001132250 RCV001132251 RCV001132247 RCV001132249 RCV001532422

NM_001267550.2(TTN):c.58857A>C (p.Glu19619Asp)

SNV
Germline

Chr2:178593351

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309052

rs_368026488

4 SubmittersRCV000643651 RCV001721148 RCV002321739

NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala)

SNV
Germline

Chr2:178593996

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310125

rs_201922910

12 SubmittersRCV000184654 RCV000274852 RCV000330015 RCV000335906 RCV000387758 RCV000375191 RCV000765567 RCV002321742 RCV003317135

NM_001267550.2(TTN):c.58270G>T (p.Glu19424Ter)

SNV
Germline

Chr2:178594123

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309284

rs_72646837

3 SubmittersRCV000184244 RCV001852385 RCV005502761

NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter)

SNV
Germline

Chr2:178595585

Pathogenic/Likely pathogenic

Condition: not provided
not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA309277

rs_794729275

6 SubmittersRCV000184241 RCV000223817 RCV000248842 RCV001378032

NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)

SNV
Germline

Chr2:178595698

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
6 conditions
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310113

rs_201541213

11 SubmittersRCV000228391 RCV000313228 RCV000352827 RCV000356258 RCV000398470 RCV000396308 RCV000764322 RCV000714055 RCV001170369 RCV002444755 RCV003235108

NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val)

SNV
Germline

Chr2:178595708

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
not specified
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310110

rs_374058726

12 SubmittersRCV000210582 RCV000725154 RCV001079720 RCV001133602 RCV001170370 RCV001133604 RCV001133605 RCV001135094 RCV001133603 RCV003226239 RCV002444754 RCV004537548

NM_001267550.2(TTN):c.55809G>A (p.Pro18603=)

SNV
Germline

Chr2:178601095

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA308953

rs_750472100

5 SubmittersRCV000184108 RCV000725580 RCV000622249 RCV001079093

NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly)

SNV
Germline

Chr2:178601673

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310095

rs_72646822

6 SubmittersRCV000222884 RCV000727052 RCV001086041 RCV002433829

NM_001267550.2(TTN):c.55379C>T (p.Thr18460Ile)

SNV
Germline

Chr2:178601711

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310092

rs_372778818

6 SubmittersRCV000184638 RCV000643161 RCV002433828 RCV003137722

NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu)

SNV
Germline

Chr2:178602323

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310086

rs_192788942

8 SubmittersRCV000184634 RCV000727777 RCV001087244 RCV002433827 RCV004734818

NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser)

SNV
Germline

Chr2:178603891

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Hypertrophic cardiomyopathy 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310076

rs_199837769

9 SubmittersRCV000228857 RCV000287146 RCV000307291 RCV000286006 RCV000342179 RCV000347210 RCV000395829 RCV000725529 RCV000768991 RCV001262868 RCV002433826

NM_001267550.2(TTN):c.54560G>A (p.Trp18187Ter)

SNV
Germline

Chr2:178604127

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA309273

rs_794729274

2 SubmittersRCV000184238 RCV000813378

NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter)

SNV
Germline

Chr2:178605011

Pathogenic/Likely pathogenic

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309476

rs_768431507

5 SubmittersRCV000184378 RCV000223808 RCV000531903 RCV002426894 RCV003485551

NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro)

SNV
Germline

Chr2:178605515

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310052

rs_369678018

8 SubmittersRCV000184619 RCV000466917 RCV000726699 RCV002453675

NM_001267550.2(TTN):c.53287+6G>A

SNV
Germline

Chr2:178607395

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA308951

rs_149890360

4 SubmittersRCV000184106 RCV000230798

NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)

SNV
Germline

Chr2:178607529

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA310046

rs_201358641

13 SubmittersRCV000184616 RCV000555766 RCV000764330 RCV001132012 RCV001132011 RCV001132953 RCV001132954 RCV001132013 RCV002453674 RCV005404358

NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr)

SNV
Germline

Chr2:178607839

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310040

rs_535008556

6 SubmittersRCV000264644 RCV000268363 RCV000299807 RCV000303761 RCV000360879 RCV000867223 RCV001532425

NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)

SNV
Germline

Chr2:178608181

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA310028

rs_377571654

11 SubmittersRCV000361668 RCV000308035 RCV000394317 RCV000339816 RCV000394227 RCV000474495 RCV001262302 RCV001532426 RCV002426896 RCV001798650 RCV003114341

NM_001267550.2(TTN):c.52693C>G (p.His17565Asp)

SNV
Germline

Chr2:178608190

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310025

rs_370126872

5 SubmittersRCV000184608 RCV000272854 RCV000330284 RCV000315949 RCV000369576 RCV000365027 RCV002433825 RCV003884380

NM_001267550.2(TTN):c.52473G>A (p.Trp17491Ter)

SNV
Germline

Chr2:178608410

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA309261

rs_794729271

2 SubmittersRCV000184233 RCV002516944

NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln)

SNV
Germline

Chr2:178608474

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA308945

rs_372618781

9 SubmittersRCV000184104 RCV000643555 RCV001311250 RCV001798643 RCV004734810

NM_001267550.2(TTN):c.52331G>A (p.Arg17444His)

SNV
Germline

Chr2:178608680

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA309043

rs_376080116

7 SubmittersRCV000733412 RCV001087326 RCV002282010 RCV002426892 RCV004528962

NM_001267550.2(TTN):c.51821C>A (p.Ser17274Ter)

SNV
Germline

Chr2:178609489

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA309258

rs_794729270

2 SubmittersRCV000184232 RCV006555579

NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln)

SNV
Germline

Chr2:178609528

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA310013

rs_201825412

8 SubmittersRCV000220238 RCV000243770 RCV000306260 RCV000346465 RCV000405647 RCV000349767 RCV000394740 RCV000460845 RCV001704907

NM_001267550.2(TTN):c.51704G>A (p.Arg17235Gln)

SNV
Germline

Chr2:178609719

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA310007

rs_573695008

5 SubmittersRCV000184601 RCV000852846 RCV001085392 RCV003987430

NM_001267550.2(TTN):c.51436+1G>A

SNV
Germline

Chr2:178610089

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1S
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA309257

rs_761807131

7 SubmittersRCV000184231 RCV000491861 RCV000538838 RCV003165413 RCV003237342 RCV005621906

NM_001267550.2(TTN):c.51247G>T (p.Val17083Phe)

SNV
Germline

Chr2:178610279

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA310001

rs_746817480

5 SubmittersRCV000526855 RCV000764331 RCV001704906 RCV004526631

NM_001267550.2(TTN):c.50860A>T (p.Lys16954Ter)

SNV
Germline

Chr2:178611269

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309251

rs_794729268

3 SubmittersRCV000184229 RCV000805800 RCV004678627

NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala)

SNV
Germline

Chr2:178611455

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA309980

rs_370067597

8 SubmittersRCV000220451 RCV000465576 RCV001133609 RCV001133608 RCV001133610 RCV001133606 RCV001133607 RCV001704903 RCV005361091

NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)

SNV
Germline

Chr2:178611510

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cervical cancer

Criteria Provided
Conflicting Classifications

CA309977

rs_750610895

13 SubmittersRCV000184590 RCV000327937 RCV000458919 RCV001133611 RCV001133612 RCV001133613 RCV001135102 RCV001135103 RCV002444752 RCV005892117

NM_001267550.2(TTN):c.50669A>C (p.Glu16890Ala)

SNV
Germline

Chr2:178611560

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309974

rs_752204728

5 SubmittersRCV000225833 RCV001130074 RCV001130076 RCV001135104 RCV001130075 RCV001130077 RCV001704902 RCV002444751

NM_001267550.2(TTN):c.50400A>T (p.Lys16800Asn)

SNV
Germline

Chr2:178611909

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA309040

rs_794729239

5 SubmittersRCV000184147 RCV000554253 RCV001170834 RCV003137708 RCV005025295

NM_001267550.2(TTN):c.50390G>A (p.Arg16797His)

SNV
Germline

Chr2:178611919

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309037

rs_200835354

7 SubmittersRCV000184146 RCV000467045 RCV001704890 RCV002444747 RCV003486744

NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter)

SNV
Germline

Chr2:178612115

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309244

rs_754866489

7 SubmittersRCV000505739 RCV000800689 RCV004017467 RCV002444748 RCV004786505

NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys)

SNV
Germline

Chr2:178612313

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309971

rs_148018042

10 SubmittersRCV000184587 RCV000471332 RCV000993449 RCV002444750 RCV003335182 RCV003486749

NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter)

SNV
Germline

Chr2:178612355

Pathogenic/Likely pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309241

rs_794729265

5 SubmittersRCV000184225 RCV000209230 RCV000817793 RCV004020242 RCV006605241

NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)

SNV
Germline

Chr2:178612442

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309238

rs_751502842

8 SubmittersRCV000184224 RCV000555213 RCV001170835 RCV001196220 RCV003362717

NM_001267550.2(TTN):c.49958C>G (p.Ser16653Ter)

SNV
Germline

Chr2:178612567

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA309235

rs_746669146

2 SubmittersRCV000184223 RCV005213229

NM_001267550.2(TTN):c.49863C>G (p.Tyr16621Ter)

SNV
Germline

Chr2:178612858

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309232

rs_1553699440

2 SubmittersRCV002853099 RCV005772418

NM_001267550.2(TTN):c.49346-2A>T

SNV
Germline

Chr2:178613939

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA309231

rs_794729263

2 SubmittersRCV000184221 RCV001377723

NM_001267550.2(TTN):c.49278T>C (p.Ala16426=)

SNV
Germline

Chr2:178614119

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA308942

rs_372633280

12 SubmittersRCV000184102 RCV000725473 RCV001078714 RCV002426891 RCV003486743 RCV004539713

NM_001267550.2(TTN):c.49100C>A (p.Ser16367Ter)

SNV
Germline

Chr2:178614297

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA309228

rs_794729262

2 SubmittersRCV000184220 RCV006555578

NM_001267550.2(TTN):c.48683G>A (p.Arg16228His)

SNV
Germline

Chr2:178614924

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA309929

rs_368806005

7 SubmittersRCV000643158 RCV001704901 RCV002426895 RCV004537547 RCV006263727

NM_001267550.2(TTN):c.48624T>C (p.Pro16208=)

SNV
Germline

Chr2:178615321

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308939

rs_72677240

6 SubmittersRCV000184101 RCV000725723 RCV001085243 RCV003150062 RCV002426890

NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser)

SNV
Germline

Chr2:178615436

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309923

rs_370809363

6 SubmittersRCV000460733 RCV000769000 RCV002265671 RCV001704900 RCV002415795

NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys)

SNV
Germline

Chr2:178615707

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
not specified

Criteria Provided
Conflicting Classifications

CA309914

rs_2303830

7 SubmittersRCV000472131 RCV000727759 RCV000769002 RCV001135854 RCV001135855 RCV001135856 RCV001135858 RCV001135857 RCV003235107

NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter)

SNV
Germline

Chr2:178616508

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1A
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA309222

rs_374140736

8 SubmittersRCV000184218 RCV000621940 RCV000796818 RCV001256709 RCV004596103

NM_001267550.2(TTN):c.48164G>A (p.Arg16055His)

SNV
Germline

Chr2:178616627

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309911

rs_72677238

5 SubmittersRCV000184566 RCV000227076 RCV000254392 RCV001704899

NM_001267550.2(TTN):c.47998G>C (p.Asp16000His)

SNV
Germline

Chr2:178616891

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA309902

rs_201388509

15 SubmittersRCV000591920 RCV000621855 RCV000725808 RCV001082934 RCV001128988 RCV001128984 RCV001128985 RCV001128986 RCV001128987 RCV004537546

NM_001267550.2(TTN):c.47516T>C (p.Ile15839Thr)

SNV
Germline

Chr2:178617835

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA309893

rs_764388462

6 SubmittersRCV000464661 RCV000727858 RCV002415794 RCV004525888

NM_001267550.2(TTN):c.47479C>T (p.Gln15827Ter)

SNV
Germline

Chr2:178617872

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA309219

rs_794729261

3 SubmittersRCV000184217 RCV005222808

NM_001267550.2(TTN):c.46369G>A (p.Glu15457Lys)

SNV
Germline

Chr2:178620048

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309875

rs_753664074

6 SubmittersRCV000213404 RCV000534921 RCV002478637 RCV006277734

NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn)

SNV
Germline

Chr2:178620054

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA309872

rs_370813526

9 SubmittersRCV000620672 RCV000643632 RCV000725090 RCV001133066 RCV001136508 RCV001136510 RCV001133067 RCV001136509 RCV003486748 RCV004734816

NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr)

SNV
Germline

Chr2:178621612

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA309841

rs_184078045

7 SubmittersRCV000260782 RCV000266937 RCV000310252 RCV000324442 RCV000359282 RCV000471038 RCV000725050 RCV002408819 RCV006263726

NM_001267550.2(TTN):c.44900G>A (p.Arg14967Gln)

SNV
Germline

Chr2:178622683

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309829

rs_752671402

3 SubmittersRCV000232621 RCV001704898

NM_001267550.2(TTN):c.44816-1G>A

SNV
Germline

Chr2:178622768

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309215

rs_749705939

7 SubmittersRCV000184214 RCV000509547 RCV000476723 RCV002399687

NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)

SNV
Germline

Chr2:178630250

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Cardiomyopathy
not specified
Cardiovascular phenotype
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA309212

rs_140743001

15 SubmittersRCV000495986 RCV000623485 RCV000538338 RCV000599630 RCV000769014 RCV001818448 RCV002399686 RCV005237672

NM_001267550.2(TTN):c.44154+6G>T

SNV
Germline

Chr2:178630798

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA308937

rs_794729234

4 SubmittersRCV000184099 RCV000549621 RCV006445538

NM_001267550.2(TTN):c.43748-1G>A

SNV
Germline

Chr2:178631301

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA309211

rs_794729259

2 SubmittersRCV000184212 RCV001296920

NM_001267550.2(TTN):c.43747+1G>T

SNV
Germline

Chr2:178632146

Conflicting classifications of pathogenicity

Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA309210

rs_751914344

3 SubmittersRCV000184211 RCV005429005 RCV006555577

NM_001267550.2(TTN):c.42950G>C (p.Arg14317Pro)

SNV
Germline

Chr2:178633323

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA309802

rs_727505144

6 SubmittersRCV000273360 RCV000279393 RCV000315812 RCV000380458 RCV000373977 RCV000865015 RCV001721156 RCV004734815 RCV005406911

NM_001267550.2(TTN):c.42434T>C (p.Met14145Thr)

SNV
Germline

Chr2:178634065

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA309793

rs_794729427

5 SubmittersRCV000184512 RCV000260211 RCV000318789 RCV000322746 RCV000282780 RCV000355036 RCV000769024 RCV002390480 RCV004700556

NM_001267550.2(TTN):c.42214C>T (p.Arg14072Ter)

SNV
Germline

Chr2:178634567

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309207

rs_794729258

3 SubmittersRCV000477074 RCV001704892 RCV002390476

NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter)

SNV
Germline

Chr2:178635531

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA309488

rs_794729380

4 SubmittersRCV000184386 RCV001852396 RCV004678630 RCV005237674

NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile)

SNV
Germline

Chr2:178636083

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA309778

rs_149059189

11 SubmittersRCV000241687 RCV000724877 RCV001082051 RCV001798649 RCV002282012 RCV004734814

NM_001267550.2(TTN):c.41428G>A (p.Val13810Met)

SNV
Germline

Chr2:178636143

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309775

rs_763668057

2 SubmittersRCV000184506 RCV000309772 RCV000343809 RCV000370464 RCV000399409 RCV000392746

NM_001267550.2(TTN):c.40796C>T (p.Thr13599Ile)

SNV
Germline

Chr2:178639779

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309755

rs_370418677

6 SubmittersRCV000184499 RCV000622210 RCV000643131 RCV003137715

NM_001267550.2(TTN):c.40352C>A (p.Pro13451His)

SNV
Germline

Chr2:178645976

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA309746

rs_370048456

3 SubmittersRCV000184496 RCV000229755

NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu)

SNV
Germline

Chr2:178652141

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA309718

rs_72650062

7 SubmittersRCV000643813 RCV000725487 RCV005437979

NM_001267550.2(TTN):c.38161G>T (p.Val12721Leu)

SNV
Germline

Chr2:178654790

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA309701

rs_794729416

3 SubmittersRCV000184479 RCV000226174

NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala)

SNV
Germline

Chr2:178672216

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA309698

rs_199561793

6 SubmittersRCV000551399 RCV000726155 RCV003987429

NM_001267550.2(TTN):c.34855+1G>A

SNV
Germline

Chr2:178672634

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA309200

rs_377319699

4 SubmittersRCV000184205 RCV001223422 RCV004734811

NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro)

SNV
Germline

Chr2:178675050

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309016

rs_376836503

6 SubmittersRCV000342567 RCV000378554 RCV000282866 RCV000343895 RCV000400624 RCV000558741 RCV001721146

NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln)

SNV
Germline

Chr2:178675080

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309680

rs_201622536

8 SubmittersRCV000560087 RCV000280444 RCV000725081

NM_001267550.2(TTN):c.33173-1G>A

SNV
Germline

Chr2:178681451

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309196

rs_794729256

3 SubmittersRCV000184203 RCV001852384 RCV005415557

NM_001267550.2(TTN):c.32660T>C (p.Ile10887Thr)

SNV
Germline

Chr2:178684392

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309626

rs_371538856

3 SubmittersRCV000466533 RCV001721153

NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln)

SNV
Germline

Chr2:178689055

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA309620

rs_200161147

11 SubmittersRCV000184445 RCV000223128 RCV000768884 RCV001080545 RCV004537544

NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)

SNV
Germline

Chr2:178689122

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309614

rs_200952728

12 SubmittersRCV000184443 RCV000218769 RCV000643729 RCV000765584 RCV001135865 RCV001135867 RCV001134398 RCV001135864 RCV001135866 RCV003150065

NM_001267550.2(TTN):c.31472T>C (p.Met10491Thr)

SNV
Germline

Chr2:178693963

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309599

rs_769226745

5 SubmittersRCV000215019 RCV000457716 RCV000852877

NM_001267550.2(TTN):c.31441A>G (p.Thr10481Ala)

SNV
Germline

Chr2:178693994

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309596

rs_370208651

4 SubmittersRCV000184436 RCV000729422 RCV001132781 RCV001132780 RCV001136174 RCV001136176 RCV001136175 RCV001170627

NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)

SNV
Germline

Chr2:178695958

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA309590

rs_200831060

12 SubmittersRCV000273981 RCV000329199 RCV000365255 RCV000313900 RCV000368569 RCV000474657 RCV000733449 RCV003387790 RCV004539718

NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)

SNV
Germline

Chr2:178702498

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
6 conditions
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309575

rs_373355159

17 SubmittersRCV000275207 RCV000327843 RCV000379169 RCV000345471 RCV000384755 RCV000538876 RCV000714009 RCV000764339 RCV001270046 RCV002282011 RCV003486747

NM_001267550.2(TTN):c.29762T>C (p.Ile9921Thr)

SNV
Germline

Chr2:178704710

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309566

rs_373651676

3 SubmittersRCV000524612 RCV000768897 RCV001704895

NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter)

SNV
Germline

Chr2:178706629

Conflicting classifications of pathogenicity

Myopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA211191

rs_746721983

9 SubmittersRCV000195104 RCV000517677 RCV001066897 RCV005365107 RCV006555576

NM_001267550.2(TTN):c.29042-2A>C

SNV
Germline

Chr2:178706956

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA309191

rs_6716782

15 SubmittersRCV000184197 RCV000209530 RCV000725218 RCV000852882 RCV001084964 RCV001336905 RCV004537540

NM_001267550.2(TTN):c.28733C>T (p.Thr9578Met)

SNV
Germline

Chr2:178709586

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA312145

rs_184923756

7 SubmittersRCV000554086 RCV000714005 RCV005404370 RCV005625397

NM_001267550.2(TTN):c.28098C>G (p.Ser9366Arg)

SNV
Germline

Chr2:178711138

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA312130

rs_374930292

3 SubmittersRCV000473059 RCV001704962

NM_001267550.2(TTN):c.27709T>G (p.Ser9237Ala)

SNV
Germline

Chr2:178712121

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA312121

rs_766638714

5 SubmittersRCV000540945 RCV001704961 RCV005404369

NM_001267550.2(TTN):c.26221A>G (p.Lys8741Glu)

SNV
Germline

Chr2:178714553

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA312103

rs_538959125

4 SubmittersRCV000185453 RCV000868410 RCV001336903 RCV004734829

NM_001267550.2(TTN):c.26161G>A (p.Val8721Met)

SNV
Germline

Chr2:178715025

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA312097

rs_777730788

5 SubmittersRCV000185451 RCV000643774 RCV001293081 RCV003137761 RCV004539731

NM_001267550.2(TTN):c.26028G>A (p.Trp8676Ter)

SNV
Germline

Chr2:178715158

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309537

rs_794729389

3 SubmittersRCV000184405 RCV001852400 RCV005252795

NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu)

SNV
Germline

Chr2:178715561

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA312088

rs_369947439

5 SubmittersRCV000461658 RCV000725269 RCV003323436

NM_001267550.2(TTN):c.25637A>G (p.Gln8546Arg)

SNV
Germline

Chr2:178717097

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA312082

rs_548471822

4 SubmittersRCV000545269 RCV001778776 RCV001704959

NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys)

SNV
Germline

Chr2:178717808

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA312067

rs_201810836

7 SubmittersRCV000185441 RCV000468163 RCV001136403 RCV001136401 RCV001136404 RCV001293230 RCV001136400 RCV001136402 RCV004539730

NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val)

SNV
Germline

Chr2:178718337

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Condition: not provided
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA312061

rs_371322658

5 SubmittersRCV000642898 RCV001133191 RCV001133190 RCV001133192 RCV001133193 RCV001133194 RCV001170868 RCV001704957 RCV002227936

NM_001267550.2(TTN):c.23578G>A (p.Ala7860Thr)

SNV
Germline

Chr2:178720064

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA312040

rs_138076523

3 SubmittersRCV001130663 RCV001130660 RCV001130662 RCV000643054 RCV001130659 RCV001130661 RCV001721184

NM_001267550.2(TTN):c.23215C>T (p.Arg7739Ter)

SNV
Germline

Chr2:178720547

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA309391

rs_372250586

3 SubmittersRCV000184293 RCV001852388

NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro)

SNV
Germline

Chr2:178722348

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA312010

rs_201065037

7 SubmittersRCV000467240 RCV000727733 RCV001135647 RCV001135649 RCV001135645 RCV001135646 RCV001135648

NM_001267550.2(TTN):c.22420G>A (p.Ala7474Thr)

SNV
Germline

Chr2:178722367

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Congenital myopathy

Criteria Provided
Conflicting Classifications

CA312007

rs_759713604

7 SubmittersRCV000185409 RCV000275340 RCV000304195 RCV000329111 RCV000363577 RCV000458691 RCV000365247 RCV001798659 RCV003422080 RCV005625396

NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe)

SNV
Germline

Chr2:178723444

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311968

rs_201029552

10 SubmittersRCV000213535 RCV000251604 RCV000338709 RCV000296518 RCV000406874 RCV000335093 RCV000401816 RCV000470210 RCV000770079 RCV000725490

NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr)

SNV
Germline

Chr2:178723927

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA311951

rs_374408615

6 SubmittersRCV000220902 RCV000643152 RCV001721182 RCV005025301

NM_001267550.2(TTN):c.21276C>T (p.Thr7092=)

SNV
Germline

Chr2:178723983

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA308996

rs_372264428

6 SubmittersRCV000184129 RCV000725528 RCV001087956 RCV001798644

NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg)

SNV
Germline

Chr2:178724062

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311948

rs_553548392

7 SubmittersRCV000185387 RCV000713984 RCV001087209 RCV004537571

NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)

SNV
Germline

Chr2:178724373

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA311945

rs_200594798

11 SubmittersRCV000329170 RCV000724998 RCV001086431 RCV002222434

NM_001267550.2(TTN):c.20418A>C (p.Lys6806Asn)

SNV
Germline

Chr2:178725904

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA311930

rs_768932465

5 SubmittersRCV000281508 RCV000296750 RCV000336597 RCV000351488 RCV000399478 RCV001704954 RCV005406913

NM_001267550.2(TTN):c.20108G>A (p.Arg6703Gln)

SNV
Germline

Chr2:178727257

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA311913

rs_546821182

5 SubmittersRCV001132033 RCV000727008 RCV001132029 RCV001132031 RCV001132030 RCV001132032 RCV005892120

NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln)

SNV
Germline

Chr2:178727308

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311910

rs_202022304

6 SubmittersRCV000543382 RCV000764349 RCV001508476

NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn)

SNV
Germline

Chr2:178727656

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311907

rs_747240394

8 SubmittersRCV000220599 RCV000469447 RCV000852898 RCV003137756 RCV004537570

NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)

SNV
Germline

Chr2:178729703

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA311880

rs_72648947

9 SubmittersRCV000253609 RCV000469338 RCV000727793 RCV000852903 RCV003317137

NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln)

SNV
Germline

Chr2:178729846

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311877

rs_117551279

8 SubmittersRCV000726445 RCV000769071 RCV001081900 RCV001129965 RCV001135006 RCV001129963 RCV001129964 RCV001129966 RCV001729441 RCV004537569

NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)

SNV
Germline

Chr2:178729874

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311874

rs_370812788

13 SubmittersRCV000215380 RCV000253515 RCV000726101 RCV001079996 RCV001798658 RCV004537568

NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys)

SNV
Germline

Chr2:178730228

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311868

rs_189127014

13 SubmittersRCV000185356 RCV000543023 RCV000726954 RCV002274948 RCV003486763

NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His)

SNV
Germline

Chr2:178730363

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311862

rs_548015673

6 SubmittersRCV000228104 RCV000769074 RCV001508479

NM_001267550.2(TTN):c.17893T>C (p.Tyr5965His)

SNV
Germline

Chr2:178730640

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311859

rs_752226947

4 SubmittersRCV000468744 RCV001721180

NM_001267550.2(TTN):c.17871A>T (p.Gln5957His)

SNV
Germline

Chr2:178730662

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA311856

rs_181067357

13 SubmittersRCV000185352 RCV000231532 RCV000299916 RCV000305709 RCV000345779 RCV000401300 RCV000395936 RCV000852906 RCV005404367

NM_001267550.2(TTN):c.16010A>G (p.Asn5337Ser)

SNV
Germline

Chr2:178733283

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311812

rs_752924679

6 SubmittersRCV000185337 RCV000557356 RCV003150080

NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp)

SNV
Germline

Chr2:178733307

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
not specified
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311809

rs_202234492

9 SubmittersRCV000227527 RCV000279145 RCV000323716 RCV000338828 RCV000373151 RCV000374753 RCV000592445 RCV000725625 RCV001170869

NM_001267550.2(TTN):c.15185G>A (p.Ser5062Asn)

SNV
Germline

Chr2:178734739

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA311788

rs_371687650

3 SubmittersRCV000185330 RCV000727794 RCV001087897

NM_001267550.2(TTN):c.14911T>G (p.Cys4971Gly)

SNV
Germline

Chr2:178735535

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206732

rs_537312655

7 SubmittersRCV000193330 RCV000550893 RCV000852915 RCV001706160

NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr)

SNV
Germline

Chr2:178735658

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA311782

rs_201744218

7 SubmittersRCV000591089 RCV000726948 RCV001087944

NM_001267550.2(TTN):c.14662C>G (p.Pro4888Ala)

SNV
Germline

Chr2:178735784

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311776

rs_376799249

5 SubmittersRCV000185323 RCV000231783 RCV001170873 RCV004734826 RCV003137753

NM_001267550.2(TTN):c.14152A>G (p.Lys4718Glu)

SNV
Germline

Chr2:178738301

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Hypertrophic cardiomyopathy 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311761

rs_757119133

4 SubmittersRCV000464161 RCV001704950 RCV003233492 RCV002381621

NM_001267550.2(TTN):c.13914T>A (p.Tyr4638Ter)

SNV
Germline

Chr2:178739319

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA309534

rs_794729388

2 SubmittersRCV000184404 RCV001852399

NM_001267550.2(TTN):c.13883C>T (p.Ser4628Phe)

SNV
Germline

Chr2:178739350

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311752

rs_794729602

4 SubmittersRCV000185311 RCV000643611 RCV002485260 RCV003486762

NM_001267550.2(TTN):c.13618G>A (p.Val4540Met)

SNV
Germline

Chr2:178739615

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA311746

rs_201046911

7 SubmittersRCV000218512 RCV000727092 RCV001082208 RCV002408826 RCV005025300

NM_001267550.2(TTN):c.12742C>T (p.Gln4248Ter)

SNV
Germline

Chr2:178740491

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309383

rs_794729308

3 SubmittersRCV000819265 RCV001704893 RCV002321741

NM_001267550.2(TTN):c.12404A>G (p.Asn4135Ser)

SNV
Germline

Chr2:178740829

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311737

rs_565638291

4 SubmittersRCV000643391 RCV000729230

NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu)

SNV
Germline

Chr2:178764242

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311577

rs_139504522

11 SubmittersRCV000595289 RCV000769099 RCV000726573 RCV001087649 RCV002381619

NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg)

SNV
Germline

Chr2:178764664

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA311567

rs_147903846

7 SubmittersRCV000642866 RCV001704948 RCV002372139 RCV003150078 RCV003330548

NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly)

SNV
Germline

Chr2:178764688

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA309159

rs_377049518

5 SubmittersRCV000184187 RCV001129765 RCV001129766 RCV001134748 RCV000725359 RCV002372127 RCV001134749 RCV001134750

NM_001267550.2(TTN):c.9163+3A>G

SNV
Germline

Chr2:178768670

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA308982

rs_760597240

2 SubmittersRCV000184119 RCV002519566

NM_001267550.2(TTN):c.8380+1G>A

SNV
Germline

Chr2:178770411

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA309379

rs_794729306

2 SubmittersRCV000184288 RCV003765150

NM_001267550.2(TTN):c.7816G>A (p.Ala2606Thr)

SNV
Germline

Chr2:178773148

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA311490

rs_375286376

3 SubmittersRCV000642893 RCV001704946 RCV006456807

NM_001267550.2(TTN):c.7758A>G (p.Ile2586Met)

SNV
Germline

Chr2:178773206

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311485

rs_556000493

8 SubmittersRCV000538379 RCV001704945 RCV002390484

NM_001267550.2(TTN):c.7628C>G (p.Thr2543Ser)

SNV
Germline

Chr2:178773336

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Sudden cardiac arrest
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309149

rs_765136135

5 SubmittersRCV000643624 RCV000852929 RCV002390475 RCV004589838

NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu)

SNV
Germline

Chr2:178775505

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311424

rs_141142920

11 SubmittersRCV000185179 RCV000872240 RCV001128779 RCV001128775 RCV001128776 RCV001128777 RCV001128778 RCV001528299 RCV002362972

NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu)

SNV
Germline

Chr2:178776400

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311374

rs_201581947

7 SubmittersRCV000714053 RCV001079944 RCV002345663 RCV006555585

NM_001267550.2(TTN):c.4990C>T (p.Arg1664Trp)

SNV
Germline

Chr2:178776874

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311369

rs_147695336

5 SubmittersRCV000185166 RCV000642940 RCV000729514 RCV003486761

NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu)

SNV
Germline

Chr2:178777895

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA311349

rs_577298130

9 SubmittersRCV000542098 RCV002327010 RCV001704944 RCV003150077

NM_001267550.2(TTN):c.3989G>A (p.Arg1330His)

SNV
Germline

Chr2:178779093

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311314

rs_761402128

8 SubmittersRCV000217473 RCV000643782 RCV001706159 RCV002362971

NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu)

SNV
Germline

Chr2:178779357

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311304

rs_374497665

8 SubmittersRCV000347920 RCV000725471 RCV001084704 RCV001262304 RCV002345661

NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr)

SNV
Germline

Chr2:178780110

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311258

rs_373753003

5 SubmittersRCV000474201 RCV002453684 RCV001704942

NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys)

SNV
Germline

Chr2:178784111

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA310526

rs_371156190

6 SubmittersRCV000468625 RCV000727179 RCV000765592 RCV002426899

NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn)

SNV
Germline

Chr2:178785727

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA310273

rs_766935265

11 SubmittersRCV000304650 RCV000289199 RCV000344293 RCV000344680 RCV000340841 RCV000407072 RCV000557548 RCV000726007 RCV001170665 RCV002415796 RCV004539721

NM_001267550.2(TTN):c.2230G>A (p.Ala744Thr)

SNV
Germline

Chr2:178785988

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA308962

rs_144639994

6 SubmittersRCV000184111 RCV000552070 RCV001086311 RCV002415792 RCV004539714

NM_001267550.2(TTN):c.1743G>A (p.Pro581=)

SNV
Germline

Chr2:178790765

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA308931

rs_138560523

4 SubmittersRCV000184097 RCV000307349 RCV000347041 RCV000352620 RCV000398500 RCV000392829 RCV000864570 RCV004537537

NM_001267550.2(TTN):c.1616T>A (p.Ile539Asn)

SNV
Germline

Chr2:178792118

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309733

rs_774503024

5 SubmittersRCV000184493 RCV000227362 RCV002390477 RCV003137714

NM_001267550.2(TTN):c.1513C>T (p.Gln505Ter)

SNV
Germline

Chr2:178793427

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA309201

rs_794729257

2 SubmittersRCV000184206 RCV005213228

NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln)

SNV
Germline

Chr2:178795101

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Arthrogryposis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309658

rs_144531477

11 SubmittersRCV000215227 RCV000301950 RCV000400273 RCV000392883 RCV000307624 RCV000347083 RCV000553458 RCV002408817 RCV005625393 RCV000184463

NM_001267550.2(TTN):c.658C>T (p.Arg220Ter)

SNV
Germline

Chr2:178799836

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA309386

rs_748313513

5 SubmittersRCV000184292 RCV001339180 RCV002372130 RCV003486746

NM_001267550.2(TTN):c.485T>A (p.Leu162Gln)

SNV
Germline

Chr2:178800493

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA311804

rs_145438758

3 SubmittersRCV000456623 RCV001721179 RCV002336491

NM_001267550.2(TTN):c.416G>A (p.Arg139Gln)

SNV
Germline

Chr2:178800562

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA311799

rs_780003580

5 SubmittersRCV000185333 RCV001140711 RCV001140708 RCV001140709 RCV001140710 RCV001140712 RCV004537566 RCV003137754

NM_001267550.2(TTN):c.415C>T (p.Arg139Trp)

SNV
Germline

Chr2:178800563

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
Cardiomyopathy
not specified
Hypertrophic cardiomyopathy 9
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA311794

rs_752970602

11 SubmittersRCV000185332 RCV000466012 RCV000620159 RCV002485261 RCV001798657 RCV001824666 RCV003387791 RCV004734827

NM_004393.6(DAG1):c.2006G>T (p.Cys669Phe)

SNV
Germline

Chr3:49532517

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P
Condition: not provided

Criteria Provided
Conflicting Classifications

CA204529

rs_797045023

3 SubmittersRCV000190547 RCV001224389 RCV001781562

NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter)

SNV
Germline

Chr2:178538795

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA276022

rs_771511344

5 SubmittersRCV000190634 RCV001237073 RCV002254915 RCV004020303

NM_001267550.2(TTN):c.1051G>A (p.Val351Met)

SNV
Germline

Chr2:178795116

Conflicting classifications of pathogenicity

Abnormality of neuronal migration
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA210245

rs_772889673

3 SubmittersRCV000201427 RCV000642920 RCV003486764

NM_017739.4(POMGNT1):c.1285-6C>T

SNV
Germline

Chr1:46192442

Conflicting classifications of pathogenicity

not specified
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA208497

rs_377292905

4 SubmittersRCV000194367 RCV000814493 RCV001828017 RCV003338456

NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser)

SNV
Germline

Chr1:46197784

Conflicting classifications of pathogenicity

not specified
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided
Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA209243

rs_377724143

9 SubmittersRCV000194818 RCV000813907 RCV000727160 RCV001096216 RCV001275759 RCV001096217 RCV004816323

NM_001267550.2(TTN):c.101613G>A (p.Arg33871=)

SNV
Germline

Chr2:178535002

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA207718

rs_797046068

5 SubmittersRCV000193915 RCV001431794 RCV001711504 RCV002381658

NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu)

SNV
Germline

Chr2:178537626

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA209318

rs_140025425

6 SubmittersRCV000194864 RCV000643786 RCV000727832 RCV001798661

NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys)

SNV
Germline

Chr2:178594422

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA208075

rs_371973579

5 SubmittersRCV000194123 RCV000534507 RCV001721264 RCV002321778

NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile)

SNV
Germline

Chr2:178598544

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA248822

rs_181957743

6 SubmittersRCV000192710 RCV000464720 RCV001697236

NM_001267550.2(TTN):c.56963-3C>T

SNV
Germline

Chr2:178598657

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA209596

rs_375979145

5 SubmittersRCV000195040 RCV000208090 RCV000642789 RCV001697235

NM_001267550.2(TTN):c.51887G>A (p.Arg17296His)

SNV
Germline

Chr2:178609423

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA209392

rs_200456782

8 SubmittersRCV000194914 RCV000642862 RCV002453712 RCV003137776

NM_001267550.2(TTN):c.20355G>A (p.Ser6785=)

SNV
Germline

Chr2:178725967

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA207112

rs_549470227

4 SubmittersRCV000193553 RCV000839157 RCV001087750 RCV004541253

NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp)

SNV
Germline

Chr2:178731539

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA208675

rs_377193479

5 SubmittersRCV000194485 RCV000477015 RCV000725421

NM_001267550.2(TTN):c.10182A>G (p.Gln3394=)

SNV
Germline

Chr2:178759105

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA209552

rs_797046059

3 SubmittersRCV000195006 RCV000726185 RCV002517986

NM_004369.4(COL6A3):c.6181C>T (p.Arg2061Ter)

SNV
Germline

Chr2:237361150

Pathogenic/Likely pathogenic

Myopathy
Condition: not provided
Limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA205930

rs_797045479

3 SubmittersRCV000192833 RCV001781568 RCV005625425

NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=)

SNV
Germline

Chr2:71589667

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA208352

rs_576460368

4 SubmittersRCV000194280 RCV000664777 RCV001462615 RCV003895245

NM_201384.3(PLEC):c.6313G>A (p.Ala2105Thr)

SNV
Germline

Chr8:143923616

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA207236

rs_781931836

3 SubmittersRCV000193631 RCV000724939 RCV001088606

NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp)

SNV
Germline

Chr8:143924168

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA208198

rs_201278290

5 SubmittersRCV000194194 RCV000513011 RCV001087077

NM_001077365.2(POMT1):c.986+9A>G

SNV
Germline

Chr9:131511476

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2K
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA206070

rs_202095070

10 SubmittersRCV000192918 RCV000349139 RCV000532464 RCV001085720

NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)

SNV
Germline

Chr9:131523106

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA208025

rs_147143094

9 SubmittersRCV000194092 RCV000712824 RCV001084644 RCV001169207 RCV004541250

NM_000070.3(CAPN3):c.1557C>T (p.His519=)

SNV
Germline

Chr15:42402814

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA205369

rs_368385372

7 SubmittersRCV000192510 RCV000325766 RCV000726184

NM_024301.5(FKRP):c.483C>T (p.Ala161=)

SNV
Germline

Chr19:46755933

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA206471

rs_797045576

4 SubmittersRCV000193165 RCV000674471 RCV001496128 RCV002327026

NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter)

SNV
Germline

Chr9:131509761

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA278543

rs_772370177

2 SubmittersRCV000192686 RCV002517157

NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter)

SNV
Germline

Chr2:178528797

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA351280

rs_565675340

4 SubmittersRCV001228460 RCV001782733 RCV005409638

NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter)

SNV
Germline

Chr2:178620285

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA090328

rs_368200299

6 SubmittersRCV000209311 RCV000770025 RCV001853337 RCV003137799 RCV004530254 RCV005051763

NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln)

SNV
Germline

Chr2:71665182

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA351294

rs_779987458

3 SubmittersRCV000648020 RCV000672247 RCV003469178

NM_000070.3(CAPN3):c.319G>T (p.Glu107Ter)

SNV
Germline

Chr15:42384492

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA358285

rs_1801505

3 SubmittersRCV000370685 RCV001052904

NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)

SNV
Germline

Chr15:42399617

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347525

rs_376107921

13 SubmittersRCV000201096 RCV000520664 RCV000762949 RCV001814105 RCV003474968 RCV004998417

NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)

SNV
Germline

Chr2:71553092

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA277606

rs_746873768

11 SubmittersRCV000201076 RCV000255415 RCV000531181 RCV000763503 RCV003468914 RCV005864462

NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg)

SNV
Germline

Chr2:71553110

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA277611

rs_201049092

3 SubmittersRCV000201138 RCV000726170 RCV004998419

NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)

SNV
Germline

Chr2:71570679

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Abnormality of the musculature
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA277609

rs_369607332

14 SubmittersRCV000201098 RCV000255805 RCV000526163 RCV001814110 RCV003462352 RCV005893611

NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)

SNV
Germline

Chr2:71665181

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Reviewed By Expert Panel

CA279083

rs_863225021

11 SubmittersRCV000201092 RCV000553055 RCV000723532 RCV002509296 RCV003468915 RCV005031752

NM_213599.3(ANO5):c.762+1G>A

SNV
Germline

Chr11:22236277

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA210044

rs_372221490

6 SubmittersRCV000201014 RCV000725769 RCV000823520

NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter)

SNV
Germline

Chr11:22255400

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA210078

rs_566415362

5 SubmittersRCV000201148 RCV000521518 RCV001853222 RCV004541281

NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)

SNV
Germline

Chr15:42359938

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347575

rs_774048743

9 SubmittersRCV000201177 RCV000762947 RCV001781585 RCV003462346 RCV003235123

NM_000070.3(CAPN3):c.146G>A (p.Arg49His)

SNV
Germline

Chr15:42359951

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Reviewed By Expert Panel

CA347493

rs_863224958

12 SubmittersRCV000201045 RCV001781586 RCV001814106 RCV003330572 RCV003474971

NM_000070.3(CAPN3):c.499-1G>A

SNV
Germline

Chr15:42387752

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347510

rs_863224964

8 SubmittersRCV000201080 RCV003462349 RCV004808628 RCV005864461

NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro)

SNV
Germline

Chr15:42387820

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
not specified
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA347491

rs_758795961

7 SubmittersRCV000201041 RCV000729232 RCV003330573 RCV003462350 RCV005008136

NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)

SNV
Germline

Chr15:42396801

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA347568

rs_775453643

20 SubmittersRCV000201159 RCV000710091 RCV003462345

NM_000070.3(CAPN3):c.1194-9A>G

SNV
Germline

Chr15:42399483

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Reviewed By Expert Panel

CA347487

rs_374665929

13 SubmittersRCV000201038 RCV000516175 RCV003225933 RCV003474967 RCV004796096

NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)

SNV
Germline

Chr15:42399641

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA347482

rs_863224956

12 SubmittersRCV000201031 RCV000710092 RCV003387802 RCV003474969 RCV005008135

NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)

SNV
Germline

Chr15:42401751

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA347587

rs_863224957

10 SubmittersRCV000201199 RCV000516176 RCV002492925 RCV003474970

NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)

SNV
Germline

Chr15:42402971

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347588

rs_863224959

13 SubmittersRCV000201202 RCV000725109 RCV001814107 RCV002500625 RCV003474972 RCV006445556

NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter)

SNV
Germline

Chr15:42409327

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA347555

rs_863224960

3 SubmittersRCV000201136 RCV003474973

NM_000070.3(CAPN3):c.1992+1G>T

SNV
Germline

Chr15:42409381

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA347506

rs_863224961

11 SubmittersRCV000201069 RCV000725235 RCV001814109 RCV003474974

NM_000070.3(CAPN3):c.2381-2A>G

SNV
Germline

Chr15:42411285

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Melanoma

Criteria Provided
Multiple Submitters
No Conflicts

CA347520

rs_863224962

5 SubmittersRCV000201091 RCV003462347 RCV005893609

NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)

SNV
Germline

Chr17:50167430

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA210084

rs_758647756

9 SubmittersRCV000201165 RCV000493338 RCV004998420

NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)

SNV
Germline

Chr2:178735633

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA249334

rs_560537668

13 SubmittersRCV000203132 RCV000467493 RCV000726058 RCV001132789 RCV001132785 RCV001132786 RCV001132787 RCV001132788

NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)

SNV
Germline

Chr9:131518475

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA249339

rs_377304621

6 SubmittersRCV000203138 RCV000724979 RCV001079894

NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)

SNV
Germline

Chr2:178531679

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
not specified
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA349948

rs_376634193

10 SubmittersRCV000205837 RCV000253506 RCV000298099 RCV000825259 RCV001798686 RCV004530234

NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)

SNV
Germline

Chr2:178579593

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA348224

rs_375676529

9 SubmittersRCV000203942 RCV000245927 RCV000291189 RCV001798687 RCV003401109 RCV004530235

NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val)

SNV
Germline

Chr2:178663311

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Nonpapillary renal cell carcinoma
Cervical cancer

Criteria Provided
Conflicting Classifications

CA349037

rs_12994774

6 SubmittersRCV000204853 RCV000455479 RCV000831880 RCV005893752 RCV005893753

NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter)

SNV
Germline

Chr2:178530680

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA079946

rs_779948923

3 SubmittersRCV000208401 RCV001377480 RCV002408909

NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter)

SNV
Germline

Chr2:178566448

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary familial dilated cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351848

rs_869025545

9 SubmittersRCV000208201 RCV000476366 RCV001731523 RCV002336584 RCV003152696 RCV003133177

NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter)

SNV
Germline

Chr2:178578078

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA088467

rs_200797552

2 SubmittersRCV000208381 RCV003765348

NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter)

SNV
Germline

Chr2:178594134

Likely pathogenic

Left ventricular noncompaction cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA351816

rs_869025544

2 SubmittersRCV000208156 RCV001046289

NM_001267550.2(TTN):c.29962+1G>T

SNV
Germline

Chr2:178704509

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA069979

rs_774961188

4 SubmittersRCV000208234 RCV002223818 RCV002515554

NM_001161403.3(LIMS2):c.968T>C (p.Leu323Pro)

SNV
Germline

Chr2:127639339

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2W

No Assertion Criteria Provided

CA352153

rs_869025562

1 SubmittersRCV000208564

NM_001267550.2(TTN):c.10852C>T (p.Gln3618Ter)

SNV
Germline

Chr2:178756624

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA351349

rs_779064556

3 SubmittersRCV000209237 RCV005361218 RCV004764915

NM_001267550.2(TTN):c.15776-1G>T

SNV
Germline

Chr2:178733518

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA353053

rs_869312094

2 SubmittersRCV000208946 RCV006555673

NM_001267550.2(TTN):c.40558+1G>A

SNV
Germline

Chr2:178642236

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Primary familial dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA113809

rs_368219776

12 SubmittersRCV000209704 RCV000221188 RCV000456920 RCV000477783 RCV000770044 RCV000725594 RCV002381720 RCV003992234 RCV005237728

NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter)

SNV
Germline

Chr2:178589219

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA090295

rs_757231565

6 SubmittersRCV000209294 RCV000621391 RCV001564576 RCV002517417 RCV005861081

NM_001267550.2(TTN):c.80635C>T (p.Gln26879Ter)

SNV
Germline

Chr2:178565497

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA090067

rs_79926414

2 SubmittersRCV000209109 RCV002517418

NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter)

SNV
Germline

Chr2:178539514

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA116537

rs_553821887

7 SubmittersRCV000209760 RCV001201784 RCV002363044 RCV002460993 RCV004764916

NM_001267550.2(TTN):c.12757C>T (p.Gln4253Ter)

SNV
Germline

Chr2:178740476

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353074

rs_869312039

2 SubmittersRCV000208993 RCV006555674

NM_001267550.2(TTN):c.33418+1G>A

SNV
Germline

Chr2:178680253

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA204011

rs_746588865

4 SubmittersRCV000208933 RCV001308459 RCV002485366 RCV003482243

NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter)

SNV
Germline

Chr2:178636098

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA353111

rs_869312043

5 SubmittersRCV000209073 RCV000552893 RCV000593559 RCV002390562 RCV004786558

NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter)

SNV
Germline

Chr2:178617388

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA090034

rs_373040154

5 SubmittersRCV000209092 RCV000642714 RCV002485367 RCV004725067 RCV004992084

NM_001267550.2(TTN):c.48527G>A (p.Trp16176Ter)

SNV
Germline

Chr2:178615418

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353382

rs_869312048

2 SubmittersRCV000209744 RCV002515565

NM_001267550.2(TTN):c.53881+1G>T

SNV
Germline

Chr2:178605413

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353145

rs_869312051

2 SubmittersRCV000209139 RCV006555675

NM_001267550.2(TTN):c.55303-1G>A

SNV
Germline

Chr2:178601788

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA089784

rs_748369265

7 SubmittersRCV000208956 RCV001215428 RCV001762453 RCV002433918 RCV004530253 RCV005055737

NM_001267550.2(TTN):c.58732+2T>C

SNV
Germline

Chr2:178593566

Likely pathogenic

Primary dilated cardiomyopathy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA353066

rs_869312054

5 SubmittersRCV000208977 RCV000770000 RCV001853334 RCV002266934 RCV002321825

NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter)

SNV
Germline

Chr2:178590794

Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA353222

rs_869312055

8 SubmittersRCV000209305 RCV001781627 RCV001853335 RCV001798695 RCV002453753 RCV004764917

NM_001267550.2(TTN):c.78184G>T (p.Glu26062Ter)

SNV
Germline

Chr2:178567948

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353360

rs_869312057

2 SubmittersRCV000209657 RCV001376974

NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)

SNV
Germline

Chr2:178561042

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Hypertrophic cardiomyopathy 9
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA090441

rs_770038577

8 SubmittersRCV000209383 RCV000243897 RCV000476159 RCV000788393 RCV003147407 RCV003147409 RCV003147410 RCV003147411 RCV003147412 RCV003147408

NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)

SNV
Germline

Chr2:178548943

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Wolff-Parkinson-White pattern
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA353320

rs_869312065

9 SubmittersRCV000209537 RCV000656220 RCV001594385 RCV001853336 RCV004678645 RCV005868116

NM_001267550.2(TTN):c.101996G>A (p.Trp33999Ter)

SNV
Germline

Chr2:178534619

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353051

rs_869312068

2 SubmittersRCV000208945 RCV001378937

NM_001267550.2(TTN):c.44281+1G>A

SNV
Germline

Chr2:178630240

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Primary familial dilated cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA090088

rs_771562210

10 SubmittersRCV000209118 RCV000459817 RCV000786249 RCV001535754 RCV002399773 RCV003317153 RCV004764918

NM_001267550.2(TTN):c.49346-1G>A

SNV
Germline

Chr2:178613938

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA353085

rs_869312070

6 SubmittersRCV000209019 RCV000485193 RCV000685093 RCV002415880 RCV005250036

NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)

SNV
Germline

Chr2:178587708

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA130338

rs_764243269

11 SubmittersRCV000209814 RCV000786239 RCV001239700 RCV001798696 RCV002057055 RCV002453754 RCV002503827 RCV004764919

NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter)

SNV
Germline

Chr2:178585291

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Primary familial dilated cardiomyopathy
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA090110

rs_768345594

9 SubmittersRCV000209173 RCV001059746 RCV002291595 RCV002347817 RCV004020568 RCV004525901 RCV005025341

NM_001267550.2(TTN):c.69412+1G>A

SNV
Germline

Chr2:178576922

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353374

rs_869312074

2 SubmittersRCV000209713 RCV002517419

NM_001267550.2(TTN):c.87624C>A (p.Tyr29208Ter)

SNV
Germline

Chr2:178557730

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA113780

rs_772121356

2 SubmittersRCV000209702 RCV001853338

NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)

SNV
Germline

Chr2:178548460

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA090755

rs_72648250

9 SubmittersRCV000209605 RCV000578520 RCV000619547 RCV000705561 RCV002503828 RCV004734858 RCV004764920

NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter)

SNV
Germline

Chr2:178539559

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA353281

rs_869312085

8 SubmittersRCV000209446 RCV000252893 RCV001069588 RCV001798697 RCV003228912 RCV004764921

NM_001267550.2(TTN):c.100445C>A (p.Ser33482Ter)

SNV
Germline

Chr2:178536302

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353388

rs_869312086

2 SubmittersRCV000209762 RCV005222832

NM_001267550.2(TTN):c.21142C>T (p.Arg7048Ter)

SNV
Germline

Chr2:178724117

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA089801

rs_770579313

4 SubmittersRCV000208995 RCV000376176 RCV002517420 RCV004783764

NM_001267550.2(TTN):c.30803-2A>G

SNV
Germline

Chr2:178696271

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA353173

rs_869312089

2 SubmittersRCV000209199 RCV006555679

NM_001267550.2(TTN):c.32554+1G>C

SNV
Germline

Chr2:178684905

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA199270

rs_376018437

2 SubmittersRCV000208884 RCV005213233

NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter)

SNV
Germline

Chr2:178775509

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA353251

rs_869312098

5 SubmittersRCV000209374 RCV002363046 RCV002517421 RCV005401383

NM_001267550.2(TTN):c.9164-2A>T

SNV
Germline

Chr2:178768157

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive titinopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA090964

rs_777369921

4 SubmittersRCV000209698 RCV001853340 RCV004800336 RCV004719760

NM_001267550.2(TTN):c.14093-1G>A

SNV
Germline

Chr2:178738361

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
6 conditions
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA353381

rs_869312099

7 SubmittersRCV000209734 RCV000296352 RCV000680134 RCV000794667 RCV002381721 RCV003152599

NM_001267550.2(TTN):c.23386C>T (p.Arg7796Ter)

SNV
Germline

Chr2:178720256

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA090206

rs_748111134

3 SubmittersRCV000209233 RCV000816854 RCV003137800

NM_001267550.2(TTN):c.39895+1G>T

SNV
Germline

Chr2:178649816

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA204481

rs_749931280

3 SubmittersRCV000208943 RCV000467271 RCV004767154

NM_001267550.2(TTN):c.103408G>T (p.Glu34470Ter)

SNV
Germline

Chr2:178533207

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA089838

rs_769023413

2 SubmittersRCV000209029 RCV003765351

NM_001267550.2(TTN):c.325C>T (p.Arg109Ter)

SNV
Germline

Chr2:178800653

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA090367

rs_150954246

5 SubmittersRCV000209360 RCV000578708 RCV001221535 RCV002321826

NM_001267550.2(TTN):c.11912G>A (p.Trp3971Ter)

SNV
Germline

Chr2:178741321

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353384

rs_869312102

2 SubmittersRCV000209746 RCV000642746

NM_001267550.2(TTN):c.13900G>T (p.Glu4634Ter)

SNV
Germline

Chr2:178739333

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353187

rs_869312103

2 SubmittersRCV000209226 RCV000642707

NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter)

SNV
Germline

Chr2:178629441

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA090661

rs_770767998

8 SubmittersRCV000209591 RCV001853342 RCV002274963 RCV004764922 RCV005761984

NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter)

SNV
Germline

Chr2:178617393

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA090279

rs_775186117

6 SubmittersRCV000209289 RCV000813627 RCV001594386 RCV001781628 RCV004992085

NM_001267550.2(TTN):c.49458G>A (p.Trp16486Ter)

SNV
Germline

Chr2:178613825

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA353344

rs_869312108

2 SubmittersRCV000209600 RCV006555680

NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter)

SNV
Germline

Chr2:178590230

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA353283

rs_869312112

5 SubmittersRCV000209451 RCV000693549 RCV002336586 RCV003486767 RCV004786561

NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter)

SNV
Germline

Chr2:178573023

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA353396

rs_869312115

4 SubmittersRCV000209791 RCV003486768 RCV003765353 RCV004678646

NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter)

SNV
Germline

Chr2:178567141

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA090197

rs_779996703

4 SubmittersRCV000209202 RCV001068680 RCV004786562 RCV004696875

NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter)

SNV
Germline

Chr2:178562617

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA353024

rs_869312118

5 SubmittersRCV000208903 RCV000469859 RCV002262799 RCV004020570

NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter)

SNV
Germline

Chr2:178561756

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA353231

rs_869312119

5 SubmittersRCV000209333 RCV001378681 RCV002494547 RCV006263761 RCV005298465

NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter)

SNV
Germline

Chr2:178546476

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA353192

rs_869312121

7 SubmittersRCV000209239 RCV001853344 RCV002363050 RCV002469070 RCV003335226 RCV004786563

NM_001267550.2(TTN):c.67349-2A>C

SNV
Germline

Chr2:178579850

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1991314

rs_753948675

6 SubmittersRCV001047479 RCV001571802 RCV002494674 RCV003150141 RCV004017533

NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)

SNV
Germline

Chr2:178589003

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Tibial muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16602263

rs_543860009

7 SubmittersRCV000424753 RCV000787942 RCV001063221 RCV003362735 RCV004558604

NM_001267550.2(TTN):c.3490G>T (p.Glu1164Ter)

SNV
Germline

Chr2:178781154

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10575973

rs_878854391

2 SubmittersRCV000229941 RCV006555684

NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)

SNV
Germline

Chr2:71570680

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1706448

rs_150877497

19 SubmittersRCV000493116 RCV000555598 RCV000596380 RCV001196058 RCV003469174 RCV005031823 RCV005252832

NM_013382.7(POMT2):c.629T>C (p.Met210Thr)

SNV
Germline

Chr14:77302862

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA7286147

rs_369654108

5 SubmittersRCV000228691 RCV001596986 RCV002057057

NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter)

SNV
Germline

Chr15:42386226

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10602399

rs_878854364

4 SubmittersRCV000337512 RCV000762948 RCV001854838 RCV003475835

NM_001267550.2(TTN):c.104522G>A (p.Arg34841His)

SNV
Germline

Chr2:178532093

Conflicting classifications of pathogenicity

Inborn genetic diseases
Dilated cardiomyopathy 1G
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA357992

rs_373709706

9 SubmittersRCV000210543 RCV001130042 RCV000518156 RCV001130041 RCV001130043 RCV002399774 RCV001130044 RCV001135066 RCV001571070

NM_058246.4(DNAJB6):c.298T>G (p.Phe100Val)

SNV
Germline

Chr7:157367435

Pathogenic

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

No Assertion Criteria Provided

CA358875

rs_869320700

1 SubmittersRCV000210839

NM_058246.4(DNAJB6):c.271T>A (p.Phe91Ile)

SNV
Germline

Chr7:157367408

Pathogenic

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Single Submitter

CA358869

rs_869320701

2 SubmittersRCV000210825

NM_058246.4(DNAJB6):c.273C>G (p.Phe91Leu)

SNV
Germline

Chr7:157367410

Pathogenic

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Condition: not provided
Abnormality of the musculature

Criteria Provided
Multiple Submitters
No Conflicts

CA358311

rs_759982570

5 SubmittersRCV000210832 RCV000726936 RCV001814119

NM_058246.4(DNAJB6):c.346+5G>A

SNV
Germline

Chr7:157367488

Pathogenic

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

No Assertion Criteria Provided

CA358878

rs_869320702

1 SubmittersRCV000210843

NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)

SNV
Germline

Chr9:105604452

Pathogenic

Walker-Warburg congenital muscular dystrophy
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA5170446

rs_746763506

10 SubmittersRCV000234557 RCV000255310 RCV000490403 RCV000590733 RCV001594387 RCV002503833 RCV005404398

NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp)

SNV
Germline

Chr3:49722057

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2405424

rs_142908436

6 SubmittersRCV000211126 RCV000609930 RCV000698947 RCV001508147

NM_021971.4(GMPPB):c.760G>A (p.Val254Met)

SNV
Germline

Chr3:49722239

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Multiple Submitters
No Conflicts

CA10576144

rs_875989850

3 SubmittersRCV000211128 RCV000430158 RCV002515608

NM_021971.4(GMPPB):c.308C>T (p.Pro103Leu)

SNV
Germline

Chr3:49723066

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2T
Abnormality of the musculature

Criteria Provided
Single Submitter

CA10576145

rs_875989851

2 SubmittersRCV000211125 RCV001814120

NM_000231.3(SGCG):c.690T>A (p.Ser230Arg)

SNV
Germline

Chr13:23320748

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA10576342

rs_875989949

2 SubmittersRCV000211579

NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser)

SNV
Germline

Chr2:178527455

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1984914

rs_201298767

6 SubmittersRCV000214103 RCV000464566 RCV000727309 RCV002415907

NM_001267550.2(TTN):c.107223+1G>A

SNV
Germline

Chr2:178528527

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10576446

rs_876658102

2 SubmittersRCV000220398 RCV000694679

NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His)

SNV
Germline

Chr2:178530023

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Tip-toe gait
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985100

rs_199663911

8 SubmittersRCV000220985 RCV000643500 RCV001551195 RCV001171220 RCV002227461 RCV002415906

NM_001267550.2(TTN):c.103913G>A (p.Arg34638His)

SNV
Germline

Chr2:178532702

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985523

rs_371528685

3 SubmittersRCV000215601 RCV000278285 RCV000335727 RCV000375123 RCV000318098 RCV000404751 RCV001722172

NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr)

SNV
Germline

Chr2:178533035

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1985583

rs_370618537

5 SubmittersRCV000219152 RCV000245827 RCV000725877 RCV000643650

NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val)

SNV
Germline

Chr2:178533101

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1985592

rs_761105256

4 SubmittersRCV000221822 RCV000725519 RCV006555697

NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu)

SNV
Germline

Chr2:178533181

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985604

rs_376371272

6 SubmittersRCV000217480 RCV000230688 RCV002223195 RCV002390586

NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val)

SNV
Germline

Chr2:178535237

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA1985896

rs_200675195

12 SubmittersRCV000220026 RCV000466841 RCV000730725 RCV000769858 RCV002381750 RCV004734872 RCV005396703

NM_001267550.2(TTN):c.100397G>A (p.Arg33466His)

SNV
Germline

Chr2:178536350

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986033

rs_189626540

9 SubmittersRCV000220297 RCV000470440 RCV000731446 RCV003448290 RCV002381748

NM_001267550.2(TTN):c.98721C>T (p.Leu32907=)

SNV
Germline

Chr2:178539214

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986319

rs_375361462

4 SubmittersRCV000217102 RCV000730989 RCV001089282 RCV004020603

NM_001267550.2(TTN):c.97396G>A (p.Glu32466Lys)

SNV
Germline

Chr2:178542360

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1986564

rs_55915651

6 SubmittersRCV000223489 RCV000462887 RCV001571378 RCV001798710 RCV004734871

NM_001267550.2(TTN):c.97319G>A (p.Arg32440His)

SNV
Germline

Chr2:178542437

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1986578

rs_750047570

4 SubmittersRCV000214855 RCV000266268 RCV000374731 RCV000320900 RCV000320208 RCV000380124 RCV003150114 RCV004734870

NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr)

SNV
Germline

Chr2:178542558

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986597

rs_373876117

12 SubmittersRCV000222441 RCV000525107 RCV000766676 RCV001130880 RCV001130881 RCV001133849 RCV001133850 RCV001130879 RCV002365162

NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)

SNV
Germline

Chr2:178543971

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1986808

rs_374063064

11 SubmittersRCV000221381 RCV000312975 RCV000348077 RCV000367679 RCV000307260 RCV000465608 RCV000620724 RCV000393913 RCV000728761 RCV005025352 RCV003486777

NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile)

SNV
Germline

Chr2:178546087

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986999

rs_150930737

7 SubmittersRCV000216475 RCV000643296 RCV001582732 RCV002363068

NM_001267550.2(TTN):c.93178C>T (p.Arg31060Cys)

SNV
Germline

Chr2:178548448

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1987342

rs_750303653

3 SubmittersRCV000213571 RCV000643311

NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val)

SNV
Germline

Chr2:178548495

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987351

rs_570464905

10 SubmittersRCV000220841 RCV000304616 RCV000340685 RCV000401224 RCV000301428 RCV000356180 RCV000537936 RCV001171246 RCV001574925 RCV002365160

NM_001267550.2(TTN):c.92362G>A (p.Gly30788Ser)

SNV
Germline

Chr2:178549264

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1987454

rs_199891245

5 SubmittersRCV000219688 RCV000535204 RCV001133351 RCV001134818 RCV001134819 RCV001311946 RCV001133352 RCV001134820

NM_001267550.2(TTN):c.89946C>T (p.Val29982=)

SNV
Germline

Chr2:178552954

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987850

rs_373311459

6 SubmittersRCV000214474 RCV000726709 RCV001087070 RCV002363067

NM_001267550.2(TTN):c.86437G>T (p.Glu28813Ter)

SNV
Germline

Chr2:178559695

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA10576468

rs_868494032

3 SubmittersRCV000216926 RCV000283799 RCV005213237

NM_001267550.2(TTN):c.86085C>T (p.Asp28695=)

SNV
Germline

Chr2:178560047

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988556

rs_773001228

4 SubmittersRCV000222129 RCV000734322 RCV001403631 RCV002354602

NM_001267550.2(TTN):c.83575A>G (p.Lys27859Glu)

SNV
Germline

Chr2:178562557

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988902

rs_761633407

4 SubmittersRCV000217171 RCV000476633 RCV003137818

NM_001267550.2(TTN):c.76674T>C (p.Asp25558=)

SNV
Germline

Chr2:178569458

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989873

rs_375553630

4 SubmittersRCV000219488 RCV000315000 RCV000349422 RCV000375368 RCV000280449 RCV000351022 RCV001464809 RCV003343708

NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn)

SNV
Germline

Chr2:178570642

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA1990042

rs_192468365

10 SubmittersRCV000214060 RCV000325463 RCV000277330 RCV000312104 RCV000369619 RCV000474321 RCV000400221 RCV000731447 RCV002338688 RCV003448289

NM_001267550.2(TTN):c.74961C>T (p.Asn24987=)

SNV
Germline

Chr2:178571171

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990121

rs_754043680

4 SubmittersRCV000215599 RCV001128967 RCV001128968 RCV001128969 RCV001128970 RCV001135952 RCV001495271 RCV002338674

NM_001267550.2(TTN):c.74844G>A (p.Lys24948=)

SNV
Germline

Chr2:178571288

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990138

rs_371884545

4 SubmittersRCV000221340 RCV000727310 RCV001085926 RCV002338673

NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)

SNV
Germline

Chr2:178571583

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1990181

rs_573415766

7 SubmittersRCV000216300 RCV000725210 RCV001086254 RCV004541343

NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=)

SNV
Germline

Chr2:178572362

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990316

rs_201380749

8 SubmittersRCV000217711 RCV000643854 RCV001697289 RCV002503846 RCV002327085

NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro)

SNV
Germline

Chr2:178573801

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1990515

rs_369671334

8 SubmittersRCV000218450 RCV000529114 RCV000727259 RCV000764318 RCV003486776

NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=)

SNV
Germline

Chr2:178577603

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1991043

rs_200717463

6 SubmittersRCV000218257 RCV000473945 RCV001537831 RCV002327091 RCV004532768

NM_001267550.2(TTN):c.68792G>A (p.Ser22931Asn)

SNV
Germline

Chr2:178577634

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1991046

rs_201567815

5 SubmittersRCV000222805 RCV000540427 RCV001134110 RCV001134112 RCV001134114 RCV001311236 RCV001134111 RCV001134113

NM_001267550.2(TTN):c.68449C>A (p.Arg22817=)

SNV
Germline

Chr2:178578066

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991105

rs_371678190

6 SubmittersRCV000220525 RCV000643705 RCV000769970 RCV001697246 RCV002327083

NM_001267550.2(TTN):c.68225-5T>C

SNV
Germline

Chr2:178578720

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991154

rs_758273663

6 SubmittersRCV000216803 RCV001422351 RCV001566878 RCV002321837

NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser)

SNV
Germline

Chr2:178578865

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA1991176

rs_200493270

6 SubmittersRCV000216817 RCV000537702 RCV000997415 RCV005895026

NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys)

SNV
Germline

Chr2:178582197

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991556

rs_199643269

8 SubmittersRCV000215351 RCV000459142 RCV000727313 RCV002354614

NM_001267550.2(TTN):c.65574T>C (p.Asn21858=)

SNV
Germline

Chr2:178583608

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Hypertrophic cardiomyopathy 9
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1991683

rs_374858668

9 SubmittersRCV000218631 RCV000462337 RCV001136495 RCV001136496 RCV001136497 RCV001136498 RCV001136499 RCV001705205 RCV002354613 RCV005361241

NM_001267550.2(TTN):c.65319T>C (p.Thr21773=)

SNV
Germline

Chr2:178583863

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1991724

rs_746956869

11 SubmittersRCV000215041 RCV000726152 RCV000768961 RCV001079299 RCV002363066 RCV004541335

NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile)

SNV
Germline

Chr2:178584378

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991765

rs_368716894

6 SubmittersRCV000222014 RCV000267310 RCV000284705 RCV000324683 RCV000318684 RCV000376978 RCV000731696

NM_001267550.2(TTN):c.64397-1G>C

SNV
Germline

Chr2:178585348

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA10576497

rs_876657668

2 SubmittersRCV000222488 RCV006555690

NM_001267550.2(TTN):c.64094-2A>G

SNV
Germline

Chr2:178586809

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10576498

rs_876657667

3 SubmittersRCV000218778 RCV002519624 RCV004686579

NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val)

SNV
Germline

Chr2:178588078

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992104

rs_370687831

13 SubmittersRCV000220189 RCV000643282 RCV000997430 RCV001135376 RCV001135377 RCV001135378 RCV001135379 RCV001170817 RCV001135380 RCV002453768

NM_001267550.2(TTN):c.61224G>A (p.Val20408=)

SNV
Germline

Chr2:178590501

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992390

rs_566188777

11 SubmittersRCV000217874 RCV000459797 RCV001132658 RCV001131640 RCV001132660 RCV001171293 RCV001132657 RCV001132659 RCV001726051 RCV002453767

NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu)

SNV
Germline

Chr2:178591201

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA1992479

rs_771358314

6 SubmittersRCV000223279 RCV000462468 RCV000734811 RCV001131880 RCV001131882 RCV001131881 RCV001131883 RCV001131884 RCV003335235

NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)

SNV
Germline

Chr2:178598763

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1993151

rs_377000174

14 SubmittersRCV000213289 RCV000548016 RCV000726732 RCV000768979 RCV002433937 RCV004734868

NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro)

SNV
Germline

Chr2:178599260

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993236

rs_375000725

8 SubmittersRCV000220952 RCV000544463 RCV000764324 RCV000727258 RCV003486775

NM_001267550.2(TTN):c.54517C>T (p.Pro18173Ser)

SNV
Germline

Chr2:178604170

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1993619

rs_766074604

6 SubmittersRCV000216545 RCV000471303 RCV000852841 RCV002433936 RCV003137813 RCV004532766

NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp)

SNV
Germline

Chr2:178605068

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993698

rs_201623791

8 SubmittersRCV000218519 RCV000473378 RCV000834830 RCV001132768 RCV001132764 RCV001132766 RCV001132765 RCV001132767 RCV002450637

NM_001267550.2(TTN):c.52853G>A (p.Arg17618His)

SNV
Germline

Chr2:178607934

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993917

rs_371538664

7 SubmittersRCV000222321 RCV000550187 RCV000997454 RCV001136503 RCV001136504 RCV001136505 RCV001136506 RCV001136502 RCV002429076

NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala)

SNV
Germline

Chr2:178608812

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994035

rs_773027240

6 SubmittersRCV000218291 RCV000542859 RCV002429074 RCV000834516

NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln)

SNV
Germline

Chr2:178609755

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994148

rs_142395261

7 SubmittersRCV000213884 RCV000472424 RCV000997459 RCV002450636

NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)

SNV
Germline

Chr2:178611471

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1994319

rs_377289817

9 SubmittersRCV000216081 RCV000253790 RCV000725245 RCV000852848 RCV001085087

NM_001267550.2(TTN):c.50642G>C (p.Gly16881Ala)

SNV
Germline

Chr2:178611587

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994330

rs_201302681

4 SubmittersRCV000222383 RCV000245655 RCV000533460 RCV001556216

NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=)

SNV
Germline

Chr2:178612963

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1994518

rs_72677247

9 SubmittersRCV000213520 RCV000725262 RCV001079373 RCV001130913 RCV001130914 RCV001130915 RCV001130916 RCV001133881 RCV002444859 RCV004541333

NM_001267550.2(TTN):c.49648+13T>A

SNV
Germline

Chr2:178613148

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1994555

rs_368996176

5 SubmittersRCV000218302 RCV001133882 RCV001133883 RCV001135386 RCV001135387 RCV001135388 RCV002054956

NM_001267550.2(TTN):c.49126C>T (p.Arg16376Cys)

SNV
Germline

Chr2:178614271

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1994670

rs_772152172

2 SubmittersRCV000218703 RCV001134133 RCV001135635 RCV001135636 RCV001135633 RCV001135634

NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=)

SNV
Germline

Chr2:178617972

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995054

rs_374281025

11 SubmittersRCV000214390 RCV000533563 RCV001129198 RCV001129200 RCV001129201 RCV001170841 RCV001129197 RCV001129199 RCV001711997 RCV002415898

NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe)

SNV
Germline

Chr2:178619828

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Gastric cancer

Criteria Provided
Conflicting Classifications

CA1995228

rs_371299188

11 SubmittersRCV000217743 RCV001079797 RCV000730718 RCV001170842 RCV002408935 RCV005895025

NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr)

SNV
Germline

Chr2:178624546

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1995587

rs_766391823

7 SubmittersRCV000219774 RCV000733718 RCV001133480 RCV001133481 RCV001133482 RCV001132572 RCV001132571

NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys)

SNV
Germline

Chr2:178624687

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1995603

rs_543102139

9 SubmittersRCV000216762 RCV000286745 RCV000380150 RCV000284481 RCV000341707 RCV000401971 RCV000534179 RCV001722171 RCV001798708

NM_001267550.2(TTN):c.44282-6G>A

SNV
Germline

Chr2:178629449

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995683

rs_372166634

5 SubmittersRCV000216049 RCV000528801 RCV001697220

NM_001267550.2(TTN):c.39385G>A (p.Val13129Ile)

SNV
Germline

Chr2:178651744

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1996731

rs_774557269

4 SubmittersRCV000217136 RCV000726852 RCV001129315 RCV001129317 RCV001129318 RCV001129319 RCV001129316

NM_001267550.2(TTN):c.33418+12C>A

SNV
Germline

Chr2:178680242

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1998349

rs_199772748

5 SubmittersRCV000217318 RCV001135114 RCV001135116 RCV001135117 RCV001135118 RCV001135115 RCV002057156

NM_001267550.2(TTN):c.33305G>A (p.Arg11102His)

SNV
Germline

Chr2:178681114

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1998392

rs_368777046

6 SubmittersRCV000213570 RCV000529922 RCV000733721 RCV001130797 RCV001130798 RCV001130799 RCV001133756 RCV001133757

NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys)

SNV
Germline

Chr2:178682820

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998483

rs_201081803

9 SubmittersRCV000222783 RCV000643051 RCV000725666 RCV001135399 RCV001133892 RCV001135398 RCV001133890 RCV001133891

NM_001267550.2(TTN):c.32706G>A (p.Ala10902=)

SNV
Germline

Chr2:178684346

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1998558

rs_372124201

5 SubmittersRCV000220756 RCV000726054 RCV001087256

NM_001267550.2(TTN):c.32020C>G (p.Leu10674Val)

SNV
Germline

Chr2:178689128

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998765

rs_766003250

4 SubmittersRCV000215814 RCV000463757 RCV003137806

NM_001267550.2(TTN):c.28678G>A (p.Asp9560Asn)

SNV
Germline

Chr2:178709641

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1999553

rs_771843862

5 SubmittersRCV000220157 RCV001722170 RCV001840376 RCV001840377 RCV001840378 RCV001840379 RCV001170637

NM_001267550.2(TTN):c.26762-9A>G

SNV
Germline

Chr2:178713381

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10576549

rs_200821070

4 SubmittersRCV000214580 RCV000731117 RCV001397462 RCV003150113

NM_001267550.2(TTN):c.26144G>A (p.Cys8715Tyr)

SNV
Germline

Chr2:178715042

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2000068

rs_183499397

3 SubmittersRCV000216439 RCV000289066 RCV000300964 RCV000346371 RCV000408224 RCV000337142 RCV001798707

NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys)

SNV
Germline

Chr2:178718101

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000326

rs_549604128

6 SubmittersRCV000223295 RCV000259426 RCV000317070 RCV000264760 RCV000322196 RCV000361848 RCV000769054 RCV000764343 RCV000993405

NM_001267550.2(TTN):c.24156A>G (p.Thr8052=)

SNV
Germline

Chr2:178719234

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000494

rs_749823104

5 SubmittersRCV000221372 RCV000727804 RCV001088472

NM_001267550.2(TTN):c.23939-13C>A

SNV
Germline

Chr2:178719464

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10576550

rs_876658045

4 SubmittersRCV000222261 RCV001711998 RCV002054961

NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln)

SNV
Germline

Chr2:178720187

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2000623

rs_201420077

8 SubmittersRCV000217944 RCV000726095 RCV001135124 RCV001133629 RCV001135125 RCV001135126 RCV001135127

NM_001267550.2(TTN):c.21993T>C (p.Pro7331=)

SNV
Germline

Chr2:178722906

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000910

rs_373223049

4 SubmittersRCV000217550 RCV000727311 RCV001084934

NM_001267550.2(TTN):c.21956C>T (p.Thr7319Ile)

SNV
Germline

Chr2:178723051

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10576553

rs_876658043

5 SubmittersRCV000217872 RCV000318694 RCV000375614 RCV000261341 RCV000264761 RCV000322250 RCV000713989

NM_001267550.2(TTN):c.19728C>T (p.Phe6576=)

SNV
Germline

Chr2:178727850

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2001344

rs_751902051

4 SubmittersRCV000216993 RCV000725089 RCV001084496

NM_001267550.2(TTN):c.18561G>A (p.Ala6187=)

SNV
Germline

Chr2:178729692

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2001599

rs_377556808

8 SubmittersRCV000222606 RCV000769069 RCV000726151 RCV001085746 RCV004541332

NM_001267550.2(TTN):c.16351A>G (p.Ser5451Gly)

SNV
Germline

Chr2:178732710

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA2002044

rs_760722200

5 SubmittersRCV000216375 RCV000555646 RCV002464144 RCV003150112 RCV002494574

NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu)

SNV
Germline

Chr2:178740686

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002698

rs_201565932

7 SubmittersRCV000213210 RCV000643855 RCV001697191 RCV002450638

NM_001267550.2(TTN):c.9306-4A>G

SNV
Germline

Chr2:178767928

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004361

rs_757164431

4 SubmittersRCV000215025 RCV000643841 RCV001697290 RCV002372224

NM_001267550.2(TTN):c.7392T>C (p.Leu2464=)

SNV
Germline

Chr2:178773664

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004816

rs_565784637

6 SubmittersRCV000223610 RCV000725301 RCV001078577 RCV001798703 RCV002372223

NM_001267550.2(TTN):c.6508+15T>C

SNV
Germline

Chr2:178775341

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2005029

rs_747722195

4 SubmittersRCV000220978 RCV000260057 RCV000277654 RCV000319679 RCV000354918 RCV000374363 RCV001596992 RCV002057158

NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu)

SNV
Germline

Chr2:178775444

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005052

rs_777009984

8 SubmittersRCV000214672 RCV000461917 RCV001528592

NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu)

SNV
Germline

Chr2:178779001

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005411

rs_145308734

8 SubmittersRCV000221874 RCV000532189 RCV000617303 RCV001697190

NM_001267550.2(TTN):c.3069C>T (p.Thr1023=)

SNV
Germline

Chr2:178782837

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005658

rs_371447978

7 SubmittersRCV000214036 RCV000726627 RCV001089024 RCV002433930

NM_001267550.2(TTN):c.2206G>A (p.Gly736Arg)

SNV
Germline

Chr2:178786012

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10576581

rs_876658047

4 SubmittersRCV000218656 RCV000643227 RCV001560262

NM_001267550.2(TTN):c.1953C>T (p.Ala651=)

SNV
Germline

Chr2:178789483

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005930

rs_778742098

5 SubmittersRCV000217779 RCV000878900 RCV001088587 RCV005761985

NM_001267550.2(TTN):c.72C>G (p.Thr24=)

SNV
Germline

Chr2:178804571

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10576584

rs_876657615

5 SubmittersRCV000223372 RCV000295394 RCV000329742 RCV000355465 RCV000326959 RCV000388983 RCV001413880 RCV002381738 RCV006435016

NM_001267550.2(TTN):c.107080C>G (p.Leu35694Val)

SNV
Germline

Chr2:178528671

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1985004

rs_769369764

4 SubmittersRCV000230970 RCV000828909 RCV001135939 RCV001135940 RCV001135942 RCV001135941 RCV001135943

NM_001267550.2(TTN):c.106044C>A (p.Asn35348Lys)

SNV
Germline

Chr2:178530571

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985172

rs_145560044

5 SubmittersRCV000308363 RCV001087046 RCV003150136 RCV002408961

NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr)

SNV
Germline

Chr2:178530962

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1985224

rs_143499441

5 SubmittersRCV000282589 RCV000316931 RCV000339796 RCV000388832 RCV000374683 RCV000842725 RCV001087206 RCV004532863

NM_001267550.2(TTN):c.104015C>T (p.Ala34672Val)

SNV
Germline

Chr2:178532600

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985501

rs_79666048

4 SubmittersRCV000227260 RCV001311233

NM_001267550.2(TTN):c.98807G>A (p.Arg32936His)

SNV
Germline

Chr2:178539128

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986304

rs_774296358

4 SubmittersRCV000232162 RCV001562026

NM_001267550.2(TTN):c.89735T>C (p.Leu29912Pro)

SNV
Germline

Chr2:178553165

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987875

rs_748326514

3 SubmittersRCV000234282 RCV001589177 RCV002365187

NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)

SNV
Germline

Chr2:178557087

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
6 conditions
Hypertrophic cardiomyopathy 9
Tibial muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10581835

rs_878854428

3 SubmittersRCV000229423 RCV003147424 RCV003147426 RCV003147427 RCV003147428 RCV002500774 RCV003147423 RCV003147425

NM_001267550.2(TTN):c.86723A>G (p.Asn28908Ser)

SNV
Germline

Chr2:178559409

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988448

rs_377612718

6 SubmittersRCV000231379 RCV000606615 RCV002354648 RCV003137846

NM_001267550.2(TTN):c.86675G>A (p.Trp28892Ter)

SNV
Germline

Chr2:178559457

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA10581838

rs_745896785

1 SubmittersRCV001379063

NM_001267550.2(TTN):c.83080C>T (p.Arg27694Cys)

SNV
Germline

Chr2:178563052

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988974

rs_192360370

4 SubmittersRCV000228388 RCV000306145 RCV000360852 RCV000406496 RCV000281514 RCV000407672 RCV001536382 RCV002347880

NM_001267550.2(TTN):c.80941C>T (p.Arg26981Trp)

SNV
Germline

Chr2:178565191

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1989275

rs_779878975

3 SubmittersRCV000230162 RCV000270343 RCV000306715 RCV000769930 RCV000266392 RCV000361378 RCV000376043

NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter)

SNV
Germline

Chr2:178569415

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1A
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA10581841

rs_767450912

5 SubmittersRCV000230707 RCV001256714 RCV002338719 RCV003225049 RCV004796124

NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser)

SNV
Germline

Chr2:178570135

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989970

rs_757343393

7 SubmittersRCV000230035 RCV002271476 RCV002338718 RCV001697575

NM_001267550.2(TTN):c.74763C>T (p.Ser24921=)

SNV
Germline

Chr2:178571369

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1990150

rs_371563258

5 SubmittersRCV000246952 RCV000725711 RCV001088670 RCV000769942

NM_001267550.2(TTN):c.71155A>G (p.Ile23719Val)

SNV
Germline

Chr2:178574977

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990671

rs_201818722

3 SubmittersRCV000231238 RCV002327125 RCV003137845

NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter)

SNV
Germline

Chr2:178576691

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA10581850

rs_878854328

4 SubmittersRCV000727253 RCV001379429 RCV003278709

NM_001267550.2(TTN):c.67809G>A (p.Ala22603=)

SNV
Germline

Chr2:178579221

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991233

rs_548223512

10 SubmittersRCV000230848 RCV000250526 RCV000604421 RCV000769971 RCV001131511 RCV001131513 RCV001131509 RCV001131510 RCV001131512 RCV004532867 RCV005641558

NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)

SNV
Germline

Chr2:178581939

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA1991530

rs_183276016

10 SubmittersRCV000226664 RCV000304565 RCV000725486 RCV000620279 RCV000765557

NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter)

SNV
Germline

Chr2:178589804

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA10581854

rs_878854324

6 SubmittersRCV000229380 RCV001589176 RCV003225936 RCV004599211

NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp)

SNV
Germline

Chr2:178592603

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arthrogryposis syndrome

Criteria Provided
Conflicting Classifications

CA1992669

rs_202206216

6 SubmittersRCV000227172 RCV001293080 RCV001553137 RCV002444893 RCV005625465

NM_001267550.2(TTN):c.58616G>T (p.Cys19539Phe)

SNV
Germline

Chr2:178593684

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1992824

rs_539868284

2 SubmittersRCV000232657 RCV000602664

NM_001267550.2(TTN):c.57008C>A (p.Ser19003Ter)

SNV
Germline

Chr2:178598609

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA10581861

rs_878854318

1 SubmittersRCV000226895

NM_001267550.2(TTN):c.56685C>T (p.Ser18895=)

SNV
Germline

Chr2:178599025

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993194

rs_375403059

5 SubmittersRCV000233526 RCV001135382 RCV001135384 RCV001135385 RCV001135381 RCV001135383 RCV003298295 RCV003137842

NM_001267550.2(TTN):c.56640C>A (p.Asn18880Lys)

SNV
Germline

Chr2:178599153

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993218

rs_200544272

3 SubmittersRCV000229617 RCV003137841 RCV002433965

NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val)

SNV
Germline

Chr2:178611064

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994257

rs_372419267

5 SubmittersRCV000226574 RCV000618429 RCV000764332 RCV001551023

NM_001267550.2(TTN):c.50297G>A (p.Arg16766Gln)

SNV
Germline

Chr2:178612114

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA1994403

rs_747224934

3 SubmittersRCV000234099 RCV002444892 RCV002503899

NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp)

SNV
Germline

Chr2:178614499

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994704

rs_201793958

6 SubmittersRCV000230560 RCV000608677 RCV002429106 RCV003137840

NM_001267550.2(TTN):c.48727C>A (p.Pro16243Thr)

SNV
Germline

Chr2:178614880

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1994759

rs_72677242

3 SubmittersRCV000234035 RCV001549635 RCV000768999

NM_001267550.2(TTN):c.48461C>T (p.Thr16154Met)

SNV
Germline

Chr2:178615484

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1994807

rs_771120250

2 SubmittersRCV000231241 RCV001131395 RCV001131397 RCV001131398 RCV001131394 RCV001131396

NM_001267550.2(TTN):c.44987G>A (p.Arg14996His)

SNV
Germline

Chr2:178621935

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1995521

rs_762128685

7 SubmittersRCV000227516 RCV000733705 RCV002399818 RCV004734883

NM_001267550.2(TTN):c.43565A>G (p.His14522Arg)

SNV
Germline

Chr2:178632329

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Hypertrophic cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA1995834

rs_374085402

8 SubmittersRCV000229639 RCV000253847 RCV000725708 RCV000769020 RCV001293151 RCV005025387

NM_001267550.2(TTN):c.39469G>A (p.Glu13157Lys)

SNV
Germline

Chr2:178651531

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996692

rs_761974767

5 SubmittersRCV000234577 RCV000831418

NM_001267550.2(TTN):c.39427G>A (p.Val13143Ile)

SNV
Germline

Chr2:178651702

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996724

rs_375956503

3 SubmittersRCV000230588 RCV003486780 RCV003137836

NM_001267550.2(TTN):c.38902C>T (p.Pro12968Ser)

SNV
Germline

Chr2:178652905

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1996964

rs_192528655

6 SubmittersRCV000232547 RCV000239005 RCV001086491

NM_001267550.2(TTN):c.36952G>A (p.Val12318Ile)

SNV
Germline

Chr2:178662539

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1997327

rs_762149243

5 SubmittersRCV000228135 RCV001572813 RCV001727646

NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg)

SNV
Germline

Chr2:178663698

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA1997454

rs_371580084

8 SubmittersRCV000233263 RCV001529493 RCV001699078 RCV002500772

NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)

SNV
Germline

Chr2:178667239

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Conflicting Classifications

CA10581879

rs_878854299

7 SubmittersRCV000231913 RCV000663407 RCV000657941 RCV002288919 RCV005025386

NM_001267550.2(TTN):c.34294C>T (p.Pro11432Ser)

SNV
Germline

Chr2:178677285

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA10581880

rs_534339525

4 SubmittersRCV000231644 RCV000714020 RCV002494636 RCV005404419

NM_001267550.2(TTN):c.33966G>A (p.Pro11322=)

SNV
Germline

Chr2:178678153

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1998171

rs_373083865

5 SubmittersRCV000731205 RCV001078926 RCV002282075 RCV004532864

NM_001267550.2(TTN):c.32792A>C (p.Glu10931Ala)

SNV
Germline

Chr2:178684013

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998531

rs_370498307

4 SubmittersRCV000232960 RCV000299121

NM_001267550.2(TTN):c.31756C>G (p.Pro10586Ala)

SNV
Germline

Chr2:178692022

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998862

rs_768652249

3 SubmittersRCV000228512 RCV001132690 RCV001131665 RCV001131666 RCV001132689 RCV001132691 RCV001762525

NM_001267550.2(TTN):c.30811A>G (p.Ile10271Val)

SNV
Germline

Chr2:178696261

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999029

rs_182720979

4 SubmittersRCV000230693 RCV000728307

NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr)

SNV
Germline

Chr2:178702604

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1999195

rs_201635835

7 SubmittersRCV000226894 RCV000730580 RCV001170631 RCV005404418

NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn)

SNV
Germline

Chr2:178707738

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1999512

rs_371759532

5 SubmittersRCV000228941 RCV000993417 RCV003323465

NM_001267550.2(TTN):c.27198C>G (p.Asn9066Lys)

SNV
Germline

Chr2:178712827

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1999851

rs_369529493

3 SubmittersRCV000230408 RCV000727265 RCV000594931

NM_001267550.2(TTN):c.26619C>A (p.Asp8873Glu)

SNV
Germline

Chr2:178714039

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1999959

rs_772596633

4 SubmittersRCV000230199 RCV000362897 RCV003150137

NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg)

SNV
Germline

Chr2:178717164

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1S

Criteria Provided
Conflicting Classifications

CA2000194

rs_371512914

6 SubmittersRCV000234407 RCV000300616 RCV000491329

NM_001267550.2(TTN):c.18549C>T (p.Asp6183=)

SNV
Germline

Chr2:178729704

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2001604

rs_200549353

2 SubmittersRCV000266749 RCV000231897 RCV000284204 RCV000324258 RCV000376581 RCV000375404

NM_001267550.2(TTN):c.10128G>A (p.Ser3376=)

SNV
Germline

Chr2:178759159

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004162

rs_755262343

7 SubmittersRCV000229942 RCV000315139 RCV000369782 RCV000312425 RCV000369490 RCV000395221 RCV000727829 RCV001610537 RCV002378981

NM_001267550.2(TTN):c.10115-4G>A

SNV
Germline

Chr2:178759176

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2004166

rs_367648529

14 SubmittersRCV000577970 RCV000578025 RCV000591543 RCV000619673 RCV000726929 RCV000578101 RCV001083169 RCV004541379 RCV003486779

NM_001267550.2(TTN):c.3864T>G (p.Ala1288=)

SNV
Germline

Chr2:178779328

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005457

rs_368702156

5 SubmittersRCV000430067 RCV000729511 RCV001086151 RCV001798737 RCV002347878

NM_001267550.2(TTN):c.2032A>G (p.Thr678Ala)

SNV
Germline

Chr2:178789404

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10581905

rs_878854290

4 SubmittersRCV000229056 RCV001509201 RCV002408963

NM_001267550.2(TTN):c.1943G>C (p.Arg648Thr)

SNV
Germline

Chr2:178789493

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2005931

rs_550441902

5 SubmittersRCV000234261 RCV000844472 RCV003330594

NM_001267550.2(TTN):c.180T>C (p.Asp60=)

SNV
Germline

Chr2:178802253

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006399

rs_144750850

6 SubmittersRCV000417639 RCV000727752 RCV001080535 RCV002408962

NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser)

SNV
Germline

Chr9:105617977

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5170538

rs_776639304

6 SubmittersRCV000234043 RCV000999196 RCV002494632 RCV003372658

NM_024301.5(FKRP):c.898G>A (p.Val300Met)

SNV
Germline

Chr19:46756348

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5

Criteria Provided
Conflicting Classifications

CA9532207

rs_563033008

17 SubmittersRCV000226616 RCV000398763 RCV000726141 RCV000672226 RCV000765453 RCV001731540 RCV002374378 RCV003224238 RCV003463680 RCV005252831

NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser)

SNV
Germline

Chr1:46194293

Conflicting classifications of pathogenicity

Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA833593

rs_200863680

5 SubmittersRCV000240954 RCV001333961 RCV001854940 RCV003133196 RCV003479082

NM_015602.4(TOR1AIP1):c.554-4G>A

SNV
Germline

Chr1:179889309

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2Y
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1268839

rs_2245425

6 SubmittersRCV000252823 RCV000626056 RCV001537297

NM_017739.4(POMGNT1):c.120+13C>T

SNV
Germline

Chr1:46197689

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA833878

rs_12737140

8 SubmittersRCV000245127 RCV000283595 RCV000340979 RCV001509905 RCV001700020

NM_001267550.2(TTN):c.105737C>G (p.Ala35246Gly)

SNV
Germline

Chr2:178530878

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985217

rs_370476812

5 SubmittersRCV000251620 RCV000541867 RCV003137855

NM_001267550.2(TTN):c.104943A>G (p.Glu34981=)

SNV
Germline

Chr2:178531672

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985333

rs_372312805

6 SubmittersRCV000246183 RCV000725662 RCV001087016 RCV002411126 RCV003486792

NM_001267550.2(TTN):c.103207C>T (p.Leu34403=)

SNV
Germline

Chr2:178533408

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985643

rs_773892755

5 SubmittersRCV000243672 RCV000559465 RCV000725875 RCV002392775

NM_001267550.2(TTN):c.67959T>C (p.Phe22653=)

SNV
Germline

Chr2:178579071

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991212

rs_72646877

8 SubmittersRCV000250102 RCV001078621 RCV000725846 RCV001135843 RCV001135842 RCV001128849 RCV001135844 RCV001135845 RCV002321936

NM_001267550.2(TTN):c.30033A>G (p.Gln10011=)

SNV
Germline

Chr2:178704337

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1999249

rs_768497622

2 SubmittersRCV000241795 RCV000643602

NM_001267550.2(TTN):c.26991A>C (p.Thr8997=)

SNV
Germline

Chr2:178713143

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1999891

rs_61232800

3 SubmittersRCV000243960 RCV000727827 RCV001086586

NM_001130987.2(DYSF):c.378G>A (p.Pro126=)

SNV
Germline

Chr2:71511839

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705341

rs_377056951

4 SubmittersRCV000242037 RCV000725503 RCV001087267 RCV001276717

NM_001130987.2(DYSF):c.690C>T (p.Pro230=)

SNV
Germline

Chr2:71513852

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705418

rs_376293526

6 SubmittersRCV000247945 RCV000725510 RCV001082722 RCV001273969

NM_001130987.2(DYSF):c.772G>A (p.Val258Met)

SNV
Germline

Chr2:71515635

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705456

rs_150345121

6 SubmittersRCV000249294 RCV000532146 RCV000733997 RCV001833275

NM_001130987.2(DYSF):c.2016C>T (p.Asn672=)

SNV
Germline

Chr2:71553838

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706027

rs_199565036

4 SubmittersRCV000246296 RCV000665737 RCV000966654

NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val)

SNV
Germline

Chr2:71553929

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706042

rs_74423119

9 SubmittersRCV000251223 RCV000513999 RCV001081560 RCV001828138 RCV002519917

NM_001130987.2(DYSF):c.2622G>A (p.Leu874=)

SNV
Germline

Chr2:71568007

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706238

rs_191337920

7 SubmittersRCV000251826 RCV000726086 RCV001086817 RCV001271794

NM_001130987.2(DYSF):c.3403-10G>A

SNV
Germline

Chr2:71589583

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706549

rs_116733194

6 SubmittersRCV000249764 RCV000725483 RCV001272830 RCV001082993

NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)

SNV
Germline

Chr2:71600797

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706726

rs_139983909

6 SubmittersRCV000247034 RCV000725763 RCV001087720 RCV001272838

NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=)

SNV
Germline

Chr2:71643979

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707050

rs_148055736

5 SubmittersRCV000244684 RCV000725538 RCV001080585 RCV001271542

NM_004393.6(DAG1):c.1308G>A (p.Thr436=)

SNV
Germline

Chr3:49531819

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P

Criteria Provided
Conflicting Classifications

CA2399052

rs_143763229

6 SubmittersRCV000252680 RCV000725488 RCV001088417

NM_021971.4(GMPPB):c.728G>A (p.Arg243Gln)

SNV
Germline

Chr3:49722271

Conflicting classifications of pathogenicity

not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2405464

rs_749730219

3 SubmittersRCV000251834 RCV001226319 RCV005632346

NM_021942.6(TRAPPC11):c.2388A>C (p.Gly796=)

SNV
Germline

Chr4:183693918

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Conflicting Classifications

CA3152182

rs_151021715

5 SubmittersRCV000252478 RCV000550686 RCV001083378

NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)

SNV
Germline

Chr4:52023971

Conflicting classifications of pathogenicity

not specified
Qualitative or quantitative defects of beta-sarcoglycan
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA2918237

rs_150395645

9 SubmittersRCV000244974 RCV000330019 RCV000724882 RCV000815228

NM_012470.4(TNPO3):c.582T>C (p.Asp194=)

SNV
Germline

Chr7:129005130

Conflicting classifications of pathogenicity

not specified
Autosomal dominant limb-girdle muscular dystrophy type 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4478359

rs_148885407

3 SubmittersRCV000243079 RCV001087184 RCV000725583

NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)

SNV
Germline

Chr9:131521374

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2K
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA5293806

rs_144338642

7 SubmittersRCV000246533 RCV000332912 RCV000725940 RCV000687622 RCV002518638 RCV005396853

NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)

SNV
Germline

Chr9:131522207

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Conflicting Classifications

CA5293886

rs_140553130

6 SubmittersRCV000248748 RCV000725195 RCV001089075

NM_213599.3(ANO5):c.2688C>G (p.Ala896=)

SNV
Germline

Chr11:22279711

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ANO5-Related Muscle Diseases
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5923639

rs_377549896

5 SubmittersRCV000246923 RCV000725634 RCV001103654 RCV001080760

NM_000231.3(SGCG):c.102C>T (p.Arg34=)

SNV
Germline

Chr13:23203796

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA6909570

rs_140810408

3 SubmittersRCV000252809 RCV000727510 RCV001086699

NM_013382.7(POMT2):c.1332+13C>T

SNV
Germline

Chr14:77286731

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7285890

rs_142916824

4 SubmittersRCV000253926 RCV001120974 RCV001522073 RCV001705370

NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg)

SNV
Germline

Chr14:77288765

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2N
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7285921

rs_147268052

7 SubmittersRCV000249376 RCV000524642 RCV000658700 RCV001116051 RCV005260028

NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)

SNV
Germline

Chr15:42402800

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Hepatocellular carcinoma
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA7511431

rs_150226817

10 SubmittersRCV000245397 RCV000692602 RCV000724737 RCV005891101 RCV005891102

NM_000070.3(CAPN3):c.1668C>T (p.Ile556=)

SNV
Germline

Chr15:42402925

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511463

rs_199884116

7 SubmittersRCV000250156 RCV000725636 RCV001080761

NM_000070.3(CAPN3):c.2264-11C>T

SNV
Germline

Chr15:42410873

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7511811

rs_28364537

4 SubmittersRCV000242765 RCV000362587 RCV001697594

NM_000023.4(SGCA):c.62C>T (p.Thr21Ile)

SNV
Germline

Chr17:50167392

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8643686

rs_199804735

5 SubmittersRCV000252821 RCV000726346 RCV002057276 RCV006362176

NM_000023.4(SGCA):c.662G>A (p.Arg221His)

SNV
Germline

Chr17:50169169

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2D
Sarcoglycanopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8643860

rs_138254713

10 SubmittersRCV000243208 RCV000665313 RCV001123794 RCV001508812

NM_024301.5(FKRP):c.567C>T (p.Pro189=)

SNV
Germline

Chr19:46756017

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9532171

rs_201454433

10 SubmittersRCV000254084 RCV000725158 RCV001085023 RCV001828147 RCV002347967

NM_001267550.2(TTN):c.104282G>A (p.Arg34761Gln)

SNV
Germline

Chr2:178532333

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985448

rs_200773170

5 SubmittersRCV000253925 RCV000727802 RCV000470102 RCV003486799

NM_001267550.2(TTN):c.102885T>C (p.Gly34295=)

SNV
Germline

Chr2:178533730

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10587443

rs_886039175

3 SubmittersRCV000254263 RCV000265609 RCV001425929

NM_001267550.2(TTN):c.90159A>C (p.Lys30053Asn)

SNV
Germline

Chr2:178552741

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10587455

rs_886039117

3 SubmittersRCV000251890 RCV000642979 RCV000827153

NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)

SNV
Germline

Chr2:178554094

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
TTN-related myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10587456

rs_886038916

7 SubmittersRCV000243308 RCV000434533 RCV000795050 RCV001808719 RCV004786638

NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp)

SNV
Germline

Chr2:178561156

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988713

rs_749633038

6 SubmittersRCV000245395 RCV000643817 RCV000764307 RCV001092228

NM_001267550.2(TTN):c.75192T>C (p.Thr25064=)

SNV
Germline

Chr2:178570940

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990090

rs_370480927

6 SubmittersRCV000248976 RCV000554723 RCV000601154 RCV001128848 RCV001131506 RCV001128847 RCV001131507 RCV001131508 RCV001705385

NM_001267550.2(TTN):c.74042A>G (p.Gln24681Arg)

SNV
Germline

Chr2:178572090

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990272

rs_537071956

10 SubmittersRCV000243281 RCV000603891 RCV000643619 RCV000769944 RCV001132751 RCV001132752 RCV001132753 RCV001132754 RCV001132755 RCV001532417

NM_001267550.2(TTN):c.71368C>T (p.Arg23790Cys)

SNV
Germline

Chr2:178574764

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1990635

rs_775743818

5 SubmittersRCV000246473 RCV001216338 RCV001563433 RCV005404466

NM_001267550.2(TTN):c.73224G>A (p.Gly24408=)

SNV
Germline

Chr2:178572908

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1990401

rs_371034493

5 SubmittersRCV000243926 RCV000313398 RCV001414327 RCV005238794

NM_001267550.2(TTN):c.70260G>A (p.Pro23420=)

SNV
Germline

Chr2:178575872

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990812

rs_72646887

6 SubmittersRCV000246306 RCV000424783 RCV000476736 RCV000725903

NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser)

SNV
Germline

Chr2:178578812

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10587485

rs_886039082

4 SubmittersRCV000526468 RCV000247192 RCV000828869 RCV001798754

NM_001267550.2(TTN):c.61592G>A (p.Arg20531His)

SNV
Germline

Chr2:178590133

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1992343

rs_370887455

7 SubmittersRCV000242541 RCV000596820 RCV000643435 RCV001131514 RCV001128850 RCV001131515 RCV001131516 RCV001131517

NM_001267550.2(TTN):c.62424C>T (p.Asp20808=)

SNV
Germline

Chr2:178589301

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1992230

rs_374472044

9 SubmittersRCV000247177 RCV000726100 RCV001171289 RCV001087147 RCV005404461

NM_001267550.2(TTN):c.62547G>A (p.Thr20849=)

SNV
Germline

Chr2:178589178

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1992212

rs_368969893

5 SubmittersRCV000247528 RCV000273812 RCV001086636 RCV005404457

NM_001267550.2(TTN):c.60008G>A (p.Arg20003His)

SNV
Germline

Chr2:178591811

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992564

rs_756091180

5 SubmittersRCV000244956 RCV000642981 RCV000732232

NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln)

SNV
Germline

Chr2:178592055

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992597

rs_374914334

5 SubmittersRCV000243863 RCV000457759 RCV000595826

NM_001267550.2(TTN):c.57860G>A (p.Arg19287His)

SNV
Germline

Chr2:178594634

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1992970

rs_371422299

5 SubmittersRCV000241668 RCV000611588 RCV000839331 RCV000475954

NM_001267550.2(TTN):c.55659G>A (p.Val18553=)

SNV
Germline

Chr2:178601338

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993416

rs_368450420

10 SubmittersRCV000247264 RCV000421641 RCV000731256 RCV001082213 RCV003486794

NM_001267550.2(TTN):c.54115G>A (p.Asp18039Asn)

SNV
Germline

Chr2:178605062

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993694

rs_765148928

5 SubmittersRCV000246090 RCV000543552 RCV001508475

NM_001267550.2(TTN):c.54360T>C (p.Thr18120=)

SNV
Germline

Chr2:178604729

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993649

rs_749248039

3 SubmittersRCV000247239 RCV000591291 RCV001080048

NM_001267550.2(TTN):c.54855G>A (p.Thr18285=)

SNV
Germline

Chr2:178602547

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993563

rs_200410212

9 SubmittersRCV000253274 RCV000273077 RCV000274079 RCV000333847 RCV000328156 RCV000363491 RCV000608203 RCV000730063 RCV001087668

NM_001267550.2(TTN):c.52052T>C (p.Val17351Ala)

SNV
Germline

Chr2:178609258

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994068

rs_565423253

3 SubmittersRCV000248802 RCV000643704 RCV003137865

NM_001267550.2(TTN):c.52317A>G (p.Lys17439=)

SNV
Germline

Chr2:178608694

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1994020

rs_370450339

9 SubmittersRCV000246418 RCV000614907 RCV000728842 RCV001083135

NM_001267550.2(TTN):c.49395C>T (p.Asp16465=)

SNV
Germline

Chr2:178613888

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1994607

rs_749308557

5 SubmittersRCV000243596 RCV000595855 RCV001079165 RCV001134001 RCV001131042 RCV001133998 RCV001133999 RCV001134000

NM_001267550.2(TTN):c.48451A>G (p.Thr16151Ala)

SNV
Germline

Chr2:178615650

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided
Limb-girdle muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1994828

rs_186497293

11 SubmittersRCV000242454 RCV000466950 RCV000598396 RCV001722376 RCV005625489 RCV004542951

NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter)

SNV
Germline

Chr2:178617857

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Primary familial dilated cardiomyopathy
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1995041

rs_751746401

9 SubmittersRCV000250497 RCV000464828 RCV001798759 RCV002223202 RCV006452549 RCV006452548 RCV006554509 RCV005250043

NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu)

SNV
Germline

Chr2:178630312

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1995718

rs_373298007

8 SubmittersRCV000250405 RCV000868062 RCV001133753 RCV001133752 RCV001133754 RCV001133755 RCV001135244 RCV001705387 RCV003114434 RCV004542940

NM_001267550.2(TTN):c.43836A>G (p.Ala14612=)

SNV
Germline

Chr2:178631212

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1995797

rs_755492644

4 SubmittersRCV000251747 RCV000726164 RCV001080793

NM_001267550.2(TTN):c.40581A>G (p.Glu13527=)

SNV
Germline

Chr2:178641293

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1996443

rs_775954427

11 SubmittersRCV000242866 RCV000378788 RCV000770043 RCV000725863 RCV001086023 RCV001132681 RCV001132683 RCV001132682 RCV001132684 RCV001132685

NM_001267550.2(TTN):c.44375T>A (p.Ile14792Asn)

SNV
Germline

Chr2:178629350

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995663

rs_747654057

4 SubmittersRCV000252768 RCV000532012 RCV001547440

NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu)

SNV
Germline

Chr2:178631062

Conflicting classifications of pathogenicity

Inborn genetic diseases
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1995783

rs_201390600

6 SubmittersRCV000244515 RCV000463022 RCV000598397 RCV005431575

NM_001267550.2(TTN):c.28055T>C (p.Leu9352Ser)

SNV
Germline

Chr2:178711181

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999665

rs_776487201

4 SubmittersRCV000247051 RCV000603948 RCV001406345

NM_001267550.2(TTN):c.41703T>C (p.Thr13901=)

SNV
Germline

Chr2:178635621

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1996218

rs_756282138

6 SubmittersRCV000250887 RCV000592811 RCV001128764 RCV001131402 RCV001128765 RCV001089323 RCV001128766 RCV001131401

NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn)

SNV
Germline

Chr2:178715070

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000074

rs_377074955

7 SubmittersRCV000249513 RCV000560527 RCV001699276

NM_001267550.2(TTN):c.25937G>A (p.Arg8646His)

SNV
Germline

Chr2:178715249

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2000097

rs_144587343

6 SubmittersRCV000247665 RCV000546610 RCV001711762 RCV005404459 RCV004734899

NM_001267550.2(TTN):c.17184A>G (p.Glu5728=)

SNV
Germline

Chr2:178731582

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA2001886

rs_200984007

5 SubmittersRCV000252653 RCV000385148 RCV001460333 RCV003987478

NM_001267550.2(TTN):c.20397G>A (p.Arg6799=)

SNV
Germline

Chr2:178725925

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001218

rs_376573256

5 SubmittersRCV000251096 RCV000864849 RCV001129216 RCV001129215 RCV001129217 RCV001129218 RCV001129219 RCV001170091 RCV004597769

NM_001267550.2(TTN):c.16057C>A (p.Arg5353=)

SNV
Germline

Chr2:178733119

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2002099

rs_267599069

4 SubmittersRCV000243567 RCV000591889 RCV000524586 RCV004535216

NM_001267550.2(TTN):c.18720A>G (p.Arg6240=)

SNV
Germline

Chr2:178729436

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA2001551

rs_201395913

6 SubmittersRCV000253549 RCV000726735 RCV001087738 RCV005418036

NM_001267550.2(TTN):c.11959A>G (p.Ile3987Val)

SNV
Germline

Chr2:178741274

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002783

rs_551387805

5 SubmittersRCV000252473 RCV000615733 RCV000546848 RCV004734908 RCV006436715

NM_001267550.2(TTN):c.9512A>G (p.Asn3171Ser)

SNV
Germline

Chr2:178766572

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2004300

rs_139992576

10 SubmittersRCV000251789 RCV000541705 RCV000727950 RCV001133399 RCV001133400 RCV001133396 RCV001133397 RCV001133398 RCV003479083 RCV004535220

NM_001267550.2(TTN):c.7957T>C (p.Leu2653=)

SNV
Germline

Chr2:178771370

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2004707

rs_201837864

11 SubmittersRCV000253336 RCV000429305 RCV000727155 RCV001084325 RCV004542952

NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu)

SNV
Germline

Chr2:178774444

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2004958

rs_145649088

7 SubmittersRCV000247303 RCV000457380 RCV000726728 RCV000770126

NM_001267550.2(TTN):c.2760C>T (p.His920=)

SNV
Germline

Chr2:178784085

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2005745

rs_138788406

5 SubmittersRCV000251139 RCV000727430 RCV001081643

NM_001267550.2(TTN):c.204C>T (p.Pro68=)

SNV
Germline

Chr2:178802229

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2006393

rs_201089861

11 SubmittersRCV000244651 RCV000500853 RCV000732241 RCV001080260 RCV003486795 RCV004535219

NM_001267550.2(TTN):c.2599A>G (p.Ser867Gly)

SNV
Germline

Chr2:178784246

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA2005779

rs_148631577

6 SubmittersRCV000244623 RCV000725542 RCV001087667 RCV004701351

NM_001079802.2(FKTN):c.895A>C (p.Ser299Arg)

SNV
Germline

Chr9:105615392

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Walker-Warburg congenital muscular dystrophy
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Autosomal recessive limb-girdle muscular dystrophy type 2M

Criteria Provided
Conflicting Classifications

CA5170513

rs_367662190

4 SubmittersRCV000252346 RCV001217618 RCV005044511

NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)

SNV
Germline

Chr1:46194860

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA833669

rs_190057175

11 SubmittersRCV000255207 RCV000695969 RCV000984299 RCV000984296 RCV000984297 RCV000984298 RCV002518761 RCV002500958 RCV003155140 RCV003463717

NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter)

SNV
Germline

Chr2:178565095

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1A
Cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA10588325

rs_869038795

6 SubmittersRCV000256162 RCV001256713 RCV001265557 RCV002347971 RCV001859481

NM_001267550.2(TTN):c.49413G>A (p.Trp16471Ter)

SNV
Germline

Chr2:178613870

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA10588327

rs_202094100

3 SubmittersRCV000255219 RCV001379833 RCV004764923

NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)

SNV
Germline

Chr2:71503308

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10588346

rs_746315830

9 SubmittersRCV000254734 RCV001004980 RCV001089583 RCV001855002 RCV005025407 RCV006252444

NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)

SNV
Germline

Chr2:71526295

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
DYSF-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1705654

rs_758180890

8 SubmittersRCV000255632 RCV000817143 RCV000763502 RCV003993912 RCV003463719 RCV004547650

NM_001130987.2(DYSF):c.1693-6T>A

SNV
Germline

Chr2:71551601

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10588347

rs_886039573

8 SubmittersRCV000254712 RCV000597734 RCV001381504 RCV003463720 RCV006252445

NM_000070.3(CAPN3):c.1115+5G>C

SNV
Germline

Chr15:42394346

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10588583

rs_886039597

3 SubmittersRCV000255970 RCV000822784 RCV005600884

NM_001267550.2(TTN):c.61682C>G (p.Ser20561Ter)

SNV
Germline

Chr2:178590043

Likely pathogenic

Dilated cardiomyopathy 1S
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349470213

rs_1114167324

2 SubmittersRCV000491832 RCV001379968

NM_021942.6(TRAPPC11):c.661-1G>T

SNV
Germline

Chr4:183675163

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

No Assertion Criteria Provided

CA10602644

rs_886041052

1 SubmittersRCV000258796

NM_021942.6(TRAPPC11):c.1893+3A>G

SNV
Germline

Chr4:183686751

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

CA10602645

rs_886041053

2 SubmittersRCV000258806

NM_017739.4(POMGNT1):c.1895C>G (p.Ser632Ter)

SNV
Germline

Chr1:46189458

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Conflicting Classifications

CA10602829

rs_200471699

3 SubmittersRCV000384080 RCV002519069 RCV005411398

NM_001267550.2(TTN):c.85544T>G (p.Leu28515Ter)

SNV
Germline

Chr2:178560588

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA10602832

rs_886041441

2 SubmittersRCV000267585 RCV001855062

NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)

SNV
Germline

Chr2:71611483

Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Reviewed By Expert Panel

CA1706889

rs_199870606

8 SubmittersRCV000408314 RCV000802767 RCV003469216 RCV005252849 RCV005025412

NM_000070.3(CAPN3):c.802-9G>A

SNV
Germline

Chr15:42389944

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511134

rs_761211705

11 SubmittersRCV000383471 RCV000400325 RCV002479996 RCV003475885

NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)

SNV
Germline

Chr15:42399640

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511324

rs_776043976

13 SubmittersRCV000274198 RCV000291465 RCV003463735 RCV005008230

NM_000070.3(CAPN3):c.2185-2A>G

SNV
Germline

Chr15:42410586

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA501130

rs_886041335

7 SubmittersRCV000343664 RCV000593825 RCV003463736

NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg)

SNV
Germline

Chr15:42409951

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7511704

rs_140425651

4 SubmittersRCV000375518 RCV000644989 RCV003144189

NM_001130987.2(DYSF):c.5174+5G>T

SNV
Germline

Chr2:71664443

Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10603780

rs_745891180

3 SubmittersRCV000292755 RCV003232988 RCV006252446

NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)

SNV
Germline

Chr17:50168506

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643817

rs_143962150

11 SubmittersRCV000284145 RCV001194148 RCV001377411

NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)

SNV
Germline

Chr1:46192127

Conflicting classifications of pathogenicity

Congenital Muscular Dystrophy, alpha-dystroglycan related
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscle eye brain disease

Criteria Provided
Conflicting Classifications

CA833347

rs_17102066

11 SubmittersRCV000268124 RCV000267239 RCV000354770 RCV000548277 RCV001084521 RCV001333958 RCV001833303

NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter)

SNV
Germline

Chr2:71590246

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA10603799

rs_886042091

7 SubmittersRCV000518638 RCV001247365 RCV001828174 RCV003469217 RCV005031849

NM_001130987.2(DYSF):c.1372G>A (p.Gly458Arg)

SNV
Germline

Chr2:71528393

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10603801

rs_886042093

3 SubmittersRCV000379326 RCV001244501 RCV004800370

NM_001130987.2(DYSF):c.4144C>T (p.Gln1382Ter)

SNV
Germline

Chr2:71611549

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10603803

rs_886042095

2 SubmittersRCV000395381 RCV005600887

NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)

SNV
Germline

Chr13:23320639

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
SGCG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6909795

rs_547818652

14 SubmittersRCV000260683 RCV000723533 RCV002265721 RCV004758680

NM_000070.3(CAPN3):c.1227A>G (p.Thr409=)

SNV
Germline

Chr15:42399525

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA7511296

rs_111806046

4 SubmittersRCV000396394 RCV001087973 RCV004542969

NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp)

SNV
Germline

Chr2:71668799

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707403

rs_139879284

8 SubmittersRCV000725163 RCV001085921 RCV001276862 RCV004021072 RCV003939934

NM_201384.3(PLEC):c.3208A>G (p.Thr1070Ala)

SNV
Germline

Chr8:143929155

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4927171

rs_185859960

5 SubmittersRCV000712732 RCV000648538 RCV004649115

NM_001130987.2(DYSF):c.460+2T>G

SNV
Germline

Chr2:71511923

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Familial cancer of breast
Acute myeloid leukemia
Familial pancreatic carcinoma
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA1705352

rs_750356247

4 SubmittersRCV000264961 RCV000986769 RCV005025414 RCV005895495 RCV005895496 RCV005895498 RCV005895497

NM_000023.4(SGCA):c.37+6T>C

SNV
Germline

Chr17:50166083

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
SGCA-related disorder

Criteria Provided
Conflicting Classifications

CA8643646

rs_751466815

8 SubmittersRCV000369531 RCV000558391 RCV003897599

NM_000070.3(CAPN3):c.2051-1G>T

SNV
Germline

Chr15:42409930

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10603816

rs_886042108

9 SubmittersRCV000391266 RCV000724152 RCV003475889

NM_001130987.2(DYSF):c.5003+1249G>T

SNV
Germline

Chr2:71661900

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10603819

rs_886042110

6 SubmittersRCV000353624 RCV000591407 RCV001855080 RCV003469219 RCV005031850 RCV005600888

NM_201384.3(PLEC):c.6921G>A (p.Leu2307=)

SNV
Germline

Chr8:143923008

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA10603822

rs_886044772

2 SubmittersRCV000374824 RCV001436349

NM_001267550.2(TTN):c.29024C>A (p.Ser9675Ter)

SNV
Germline

Chr2:178707543

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10603825

rs_886042115

2 SubmittersRCV000285995 RCV000685602

NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)

SNV
Germline

Chr2:71665253

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707306

rs_148541407

8 SubmittersRCV000302512 RCV000547122 RCV001274105 RCV001531488

NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)

SNV
Germline

Chr15:42394289

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA7511239

rs_749099493

12 SubmittersRCV000389096 RCV000711013 RCV003463741 RCV005008232

NM_001267550.2(TTN):c.67348+1G>A

SNV
Germline

Chr2:178579938

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1A
Cardiovascular phenotype
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1991336

rs_758279518

8 SubmittersRCV000414246 RCV000821995 RCV001358693 RCV001175311 RCV002374451 RCV003227735 RCV004786649

NM_001077365.2(POMT1):c.568C>T (p.Leu190=)

SNV
Germline

Chr9:131509771

Conflicting classifications of pathogenicity

not specified
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Condition: not provided
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293324

rs_752931210

4 SubmittersRCV000402228 RCV000552385 RCV000724802 RCV004542974

NM_201384.3(PLEC):c.6605A>G (p.Lys2202Arg)

SNV
Germline

Chr8:143923324

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925932

rs_201928401

5 SubmittersRCV000725397 RCV001227994 RCV002521870

NM_201384.3(PLEC):c.8845C>T (p.Arg2949Trp)

SNV
Germline

Chr8:143920976

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925162

rs_202241157

5 SubmittersRCV000317893 RCV000648499 RCV000725398 RCV002519086

NM_201384.3(PLEC):c.1955C>T (p.Thr652Ile)

SNV
Germline

Chr8:143932422

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927778

rs_190470017

5 SubmittersRCV000362885 RCV000724833 RCV001083617 RCV004542976

NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys)

SNV
Germline

Chr8:143918297

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924328

rs_187011732

5 SubmittersRCV000278084 RCV000725153 RCV001086289 RCV004542977

NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg)

SNV
Germline

Chr8:143921161

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925226

rs_201655861

6 SubmittersRCV000335436 RCV000724835 RCV001083618 RCV004021074 RCV004542978

NM_201384.3(PLEC):c.12876G>A (p.Val4292=)

SNV
Germline

Chr8:143916945

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4923960

rs_199509259

5 SubmittersRCV000373869 RCV000724836 RCV001088533 RCV004535254

NM_001077365.2(POMT1):c.1149C>T (p.His383=)

SNV
Germline

Chr9:131513305

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293550

rs_202121299

9 SubmittersRCV000394979 RCV000724838 RCV001085734 RCV004542979

NM_201384.3(PLEC):c.10925A>G (p.Tyr3642Cys)

SNV
Germline

Chr8:143918896

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924497

rs_782531580

5 SubmittersRCV000576206 RCV000724841

NM_000231.3(SGCG):c.267A>G (p.Pro89=)

SNV
Germline

Chr13:23234682

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA6909619

rs_149595403

5 SubmittersRCV000316307 RCV000724842 RCV001081611

NM_201384.3(PLEC):c.4446G>A (p.Ala1482=)

SNV
Germline

Chr8:143925483

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926655

rs_782202249

5 SubmittersRCV000375878 RCV000712740 RCV001078715

NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn)

SNV
Germline

Chr2:71590255

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706621

rs_139194093

8 SubmittersRCV000382528 RCV000648004 RCV001272831 RCV003243035

NM_001267550.2(TTN):c.59031A>G (p.Pro19677=)

SNV
Germline

Chr2:178593177

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10603837

rs_886042123

3 SubmittersRCV000290181 RCV002487182 RCV003765586

NM_001267550.2(TTN):c.15507C>T (p.Thr5169=)

SNV
Germline

Chr2:178733882

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10603838

rs_886042124

2 SubmittersRCV000350810 RCV001424417

NM_213599.3(ANO5):c.1042G>A (p.Gly348Ser)

SNV
Germline

Chr11:22250769

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5923119

rs_139344099

5 SubmittersRCV000273232 RCV000555966 RCV001105485 RCV006302155

NM_001267550.2(TTN):c.57360T>A (p.Pro19120=)

SNV
Germline

Chr2:178597722

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993061

rs_778995340

5 SubmittersRCV000406037 RCV002059075 RCV005418040 RCV006342203

NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)

SNV
Germline

Chr2:71682536

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707641

rs_147263499

8 SubmittersRCV000315999 RCV000540445 RCV001081387 RCV001449592 RCV001833308

NM_201384.3(PLEC):c.13182C>T (p.Thr4394=)

SNV
Germline

Chr8:143916639

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4923893

rs_373958891

5 SubmittersRCV000370598 RCV001087386 RCV004542980

NM_000070.3(CAPN3):c.930T>C (p.Asp310=)

SNV
Germline

Chr15:42390081

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA7511168

rs_150356488

5 SubmittersRCV000275858 RCV000532053 RCV001697700 RCV004542981

NM_000070.3(CAPN3):c.1350C>T (p.Phe450=)

SNV
Germline

Chr15:42399648

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA7511325

rs_144944366

5 SubmittersRCV000272201 RCV000645006 RCV001697735 RCV004542982

NM_201384.3(PLEC):c.381C>T (p.Asp127=)

SNV
Germline

Chr8:143937033

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4928463

rs_185041864

2 SubmittersRCV000327519 RCV001463044

NM_000023.4(SGCA):c.819G>T (p.Pro273=)

SNV
Germline

Chr17:50170214

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
SGCA-related disorder

Criteria Provided
Conflicting Classifications

CA8643920

rs_35972733

4 SubmittersRCV000361536 RCV001079070 RCV003955429

NM_201384.3(PLEC):c.4587C>T (p.Arg1529=)

SNV
Germline

Chr8:143925342

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926607

rs_369723574

3 SubmittersRCV000294849 RCV001087502 RCV004535257

NM_201384.3(PLEC):c.5487C>T (p.Ala1829=)

SNV
Germline

Chr8:143924442

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA4926347

rs_781998103

5 SubmittersRCV000724890 RCV001088980 RCV005238820

NM_213599.3(ANO5):c.279C>T (p.Asp93=)

SNV
Germline

Chr11:22221195

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
ANO5-related disorder

Criteria Provided
Conflicting Classifications

CA5922853

rs_148516756

6 SubmittersRCV000274733 RCV001087722 RCV004542988

NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)

SNV
Germline

Chr15:42399548

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Reviewed By Expert Panel

CA7511300

rs_200646556

17 SubmittersRCV000340100 RCV000724905 RCV002502096 RCV002509343 RCV003475890

NM_201384.3(PLEC):c.8201C>T (p.Ala2734Val)

SNV
Germline

Chr8:143921620

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925398

rs_200202579

7 SubmittersRCV000347875 RCV000543307 RCV001718569 RCV004021081 RCV004535261

NM_001267550.2(TTN):c.57777G>A (p.Ala19259=)

SNV
Germline

Chr2:178595577

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992998

rs_376930907

3 SubmittersRCV000281089 RCV000642715 RCV003380536

NM_201384.3(PLEC):c.11611G>A (p.Gly3871Ser)

SNV
Germline

Chr8:143918210

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924292

rs_201419047

5 SubmittersRCV000319680 RCV000545914 RCV001705406 RCV002518827

NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)

SNV
Germline

Chr2:71570624

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706430

rs_143475751

6 SubmittersRCV000280424 RCV000648035 RCV001091458 RCV001276436

NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys)

SNV
Germline

Chr8:143917346

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924076

rs_201069314

6 SubmittersRCV000300593 RCV001087007 RCV004021085 RCV004542991

NM_201384.3(PLEC):c.772C>T (p.Leu258=)

SNV
Germline

Chr8:143935064

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4928321

rs_372233686

3 SubmittersRCV000305848 RCV000726201 RCV001081249

NM_201384.3(PLEC):c.10716C>T (p.Ile3572=)

SNV
Germline

Chr8:143919105

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924555

rs_34365303

3 SubmittersRCV000724943 RCV001087284

NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr)

SNV
Germline

Chr8:143924702

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926400

rs_781946435

7 SubmittersRCV000724944 RCV001082726

NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn)

SNV
Germline

Chr6:152399777

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Inborn genetic diseases
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4057918

rs_142747430

9 SubmittersRCV000557308 RCV000713686 RCV002519100 RCV005625498

NM_201384.3(PLEC):c.13347G>A (p.Ala4449=)

SNV
Germline

Chr8:143916474

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4923834

rs_368660987

5 SubmittersRCV000264142 RCV000724963 RCV001426930 RCV004021090 RCV004535265

NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly)

SNV
Germline

Chr2:178539192

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1986314

rs_760917372

7 SubmittersRCV000276620 RCV000282308 RCV000322337 RCV000331733 RCV000373215 RCV000386284 RCV000540534 RCV001170524

NM_004393.6(DAG1):c.278T>C (p.Ile93Thr)

SNV
Germline

Chr3:49510812

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Inborn genetic diseases
DAG1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2398859

rs_149218670

7 SubmittersRCV000724971 RCV001085470 RCV004975382 RCV003930051 RCV004999201

NM_001267550.2(TTN):c.28320C>T (p.Gly9440=)

SNV
Germline

Chr2:178710777

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1999613

rs_375083775

4 SubmittersRCV000724973 RCV001081926

NM_201384.3(PLEC):c.11844G>A (p.Ser3948=)

SNV
Germline

Chr8:143917977

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924233

rs_782025071

6 SubmittersRCV000298250 RCV000724975 RCV001088775 RCV004021091

NM_017739.4(POMGNT1):c.1077T>C (p.Thr359=)

SNV
Germline

Chr1:46193338

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA10603980

rs_886042244

2 SubmittersRCV000270489 RCV001491033

NM_001267550.2(TTN):c.66160+2T>C

SNV
Germline

Chr2:178582294

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary familial dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991571

rs_753146898

5 SubmittersRCV000362330 RCV001378662 RCV005407006 RCV004678658

NM_001267550.2(TTN):c.12387G>A (p.Arg4129=)

SNV
Germline

Chr2:178740846

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002723

rs_199546417

4 SubmittersRCV000260997 RCV001085059 RCV002321947

NM_201384.3(PLEC):c.2477A>G (p.Asp826Gly)

SNV
Germline

Chr8:143930279

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927503

rs_369344419

5 SubmittersRCV000389873 RCV001082840

NM_201384.3(PLEC):c.8799C>T (p.Phe2933=)

SNV
Germline

Chr8:143921022

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925181

rs_371751910

3 SubmittersRCV000288479 RCV001080537

NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)

SNV
Germline

Chr17:50167487

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA8643703

rs_60407644

7 SubmittersRCV000298182 RCV000544017 RCV004689698

NM_001267550.2(TTN):c.91311A>G (p.Glu30437=)

SNV
Germline

Chr2:178551220

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987650

rs_374094732

9 SubmittersRCV000363959 RCV000725534 RCV001086719 RCV002365297

NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met)

SNV
Germline

Chr2:178733050

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions

Criteria Provided
Conflicting Classifications

CA2002086

rs_72648936

6 SubmittersRCV000321332 RCV000537162 RCV000765585

NM_001130987.2(DYSF):c.1276+5G>C

SNV
Germline

Chr2:71526351

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA10604017

rs_766433603

7 SubmittersRCV000311902 RCV001059832 RCV005407007 RCV005025417 RCV005614397

NM_001101426.4(CRPPA):c.999T>C (p.Asp333=)

SNV
Germline

Chr7:16258947

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
Congenital Muscular Dystrophy, alpha-dystroglycan related

Criteria Provided
Conflicting Classifications

CA4169426

rs_376909665

4 SubmittersRCV000724992 RCV001081030 RCV001164709

NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)

SNV
Germline

Chr2:178612850

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1994499

rs_367566671

9 SubmittersRCV000370129 RCV000537749 RCV002222469 RCV002446515 RCV002222468

NM_001267550.2(TTN):c.2649C>T (p.Phe883=)

SNV
Germline

Chr2:178784196

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005769

rs_775588479

5 SubmittersRCV000272754 RCV000825844 RCV001503592 RCV002429214

NM_013382.7(POMT2):c.1920C>T (p.Gly640=)

SNV
Germline

Chr14:77278841

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA7285594

rs_150755807

4 SubmittersRCV000288282 RCV000559221

NM_201384.3(PLEC):c.5331G>C (p.Glu1777Asp)

SNV
Germline

Chr8:143924598

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926389

rs_774270631

5 SubmittersRCV000725003 RCV001069615

NM_001267550.2(TTN):c.31875A>C (p.Thr10625=)

SNV
Germline

Chr2:178689567

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1998815

rs_182934463

6 SubmittersRCV000725004 RCV001087505 RCV003235171

NM_001267550.2(TTN):c.72723C>G (p.Val24241=)

SNV
Germline

Chr2:178573409

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990462

rs_372701206

10 SubmittersRCV000269082 RCV000725005 RCV001081895 RCV002338822

NM_001267550.2(TTN):c.18777C>A (p.Thr6259=)

SNV
Germline

Chr2:178729379

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2001540

rs_750180579

3 SubmittersRCV000315068 RCV000725009 RCV001461768

NM_201384.3(PLEC):c.9558A>G (p.Thr3186=)

SNV
Germline

Chr8:143920263

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4924931

rs_201102719

5 SubmittersRCV000309430 RCV001085355 RCV004535269 RCV005895568

NM_001267550.2(TTN):c.21417T>C (p.Phe7139=)

SNV
Germline

Chr2:178723683

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10604032

rs_886042283

2 SubmittersRCV000268437 RCV001088892

NM_001267550.2(TTN):c.80882C>T (p.Ala26961Val)

SNV
Germline

Chr2:178565250

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1989287

rs_749194310

6 SubmittersRCV000261531 RCV000265016 RCV000301478 RCV000297529 RCV000304573 RCV000356308 RCV000526427 RCV002347988 RCV001798768

NM_001267550.2(TTN):c.23094G>C (p.Val7698=)

SNV
Germline

Chr2:178720925

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10604045

rs_886042288

2 SubmittersRCV000386097 RCV002521874

NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser)

SNV
Germline

Chr15:42387754

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10604052

rs_886042296

4 SubmittersRCV000275677 RCV003765590

NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr)

SNV
Germline

Chr2:178574983

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990672

rs_371818894

6 SubmittersRCV000312655 RCV000560012 RCV001798769 RCV002328761

NM_001267550.2(TTN):c.24792G>A (p.Pro8264=)

SNV
Germline

Chr2:178718214

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA2000342

rs_767137418

3 SubmittersRCV000349264 RCV001088994 RCV006452553

NM_001267550.2(TTN):c.55290C>T (p.Pro18430=)

SNV
Germline

Chr2:178601894

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993495

rs_777904054

5 SubmittersRCV000338639 RCV000725024 RCV002059101

NM_201384.3(PLEC):c.12783C>T (p.Ala4261=)

SNV
Germline

Chr8:143917038

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4923980

rs_377524932

3 SubmittersRCV000290169 RCV001086872 RCV004535273

NM_000232.5(SGCB):c.794C>T (p.Thr265Ile)

SNV
Germline

Chr4:52024120

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2E
Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2918275

rs_116214830

7 SubmittersRCV000558599 RCV000725027 RCV001293172

NM_201384.3(PLEC):c.2580G>A (p.Pro860=)

SNV
Germline

Chr8:143930176

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4927471

rs_782468518

3 SubmittersRCV000347306 RCV001467658

NM_000231.3(SGCG):c.507G>T (p.Gly169=)

SNV
Germline

Chr13:23295416

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA6909724

rs_199905729

4 SubmittersRCV000375825 RCV000725039 RCV001087933

NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)

SNV
Germline

Chr15:42399601

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA7511313

rs_149914792

15 SubmittersRCV000440492 RCV000820741 RCV001775111 RCV003475891 RCV002480004 RCV004689699

NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter)

SNV
Germline

Chr2:178564096

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Primary familial dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA10604092

rs_886042331

7 SubmittersRCV000486995 RCV001227214 RCV004017581 RCV006268706 RCV005761991

NM_001267550.2(TTN):c.107800G>T (p.Gly35934Ter)

SNV
Germline

Chr2:178527188

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10604093

rs_368277535

3 SubmittersRCV000725043 RCV001227213

NM_001101426.4(CRPPA):c.531C>T (p.His177=)

SNV
Germline

Chr7:16406064

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA-related disorder

Criteria Provided
Conflicting Classifications

CA4169591

rs_376195897

3 SubmittersRCV000328814 RCV001087171 RCV004542999

NM_001267550.2(TTN):c.48055G>A (p.Glu16019Lys)

SNV
Germline

Chr2:178616834

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994922

rs_758399903

4 SubmittersRCV000304864 RCV000769003 RCV001134525 RCV001134526 RCV001134528 RCV001134527 RCV001134529 RCV002418107

NM_201384.3(PLEC):c.2661C>T (p.His887=)

SNV
Germline

Chr8:143930014

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4927425

rs_782806801

2 SubmittersRCV000310025 RCV001497674

NM_001130987.2(DYSF):c.5459G>A (p.Gly1820Glu)

SNV
Germline

Chr2:71668755

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA10604103

rs_886042341

2 SubmittersRCV000273961 RCV005409644

NM_201384.3(PLEC):c.13509C>T (p.Arg4503=)

SNV
Germline

Chr8:143916312

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4923772

rs_190789703

5 SubmittersRCV000325469 RCV001084111 RCV004535275

NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)

SNV
Germline

Chr2:71535087

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
not specified

Criteria Provided
Conflicting Classifications

CA1705737

rs_141818764

12 SubmittersRCV000711546 RCV001084088 RCV001449924 RCV001276725 RCV001820812

NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln)

SNV
Germline

Chr14:77278484

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
POMT2-related disorder

Criteria Provided
Conflicting Classifications

CA7285556

rs_200163818

5 SubmittersRCV000324625 RCV000547725 RCV001084974 RCV003967712

NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)

SNV
Germline

Chr19:46755995

Pathogenic

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Multiple Submitters
No Conflicts

CA9532164

rs_543163491

11 SubmittersRCV000336106 RCV000810074 RCV000984175 RCV003463742 RCV004992146 RCV004796149

NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)

SNV
Germline

Chr4:52038229

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2E
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2918525

rs_752492870

9 SubmittersRCV000543057 RCV000399677 RCV002229741

NM_000232.5(SGCB):c.355A>T (p.Ile119Phe)

SNV
Germline

Chr4:52029752

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA2918432

rs_762412447

10 SubmittersRCV000315486 RCV000531503

NM_201384.3(PLEC):c.3009C>T (p.Thr1003=)

SNV
Germline

Chr8:143929486

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927262

rs_376276993

3 SubmittersRCV000316140 RCV001079291 RCV004535277

NM_001267550.2(TTN):c.98098+3G>A

SNV
Germline

Chr2:178540065

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986444

rs_556524594

7 SubmittersRCV000357207 RCV000468276 RCV000725064 RCV002365300

NM_201384.3(PLEC):c.11164C>T (p.Leu3722=)

SNV
Germline

Chr8:143918657

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924416

rs_375598997

3 SubmittersRCV000276485 RCV001081015

NM_201384.3(PLEC):c.11910G>A (p.Gln3970=)

SNV
Germline

Chr8:143917911

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924220

rs_782710557

2 SubmittersRCV000324550 RCV001080655

NM_058246.4(DNAJB6):c.48C>T (p.Pro16=)

SNV
Germline

Chr7:157358620

Conflicting classifications of pathogenicity

not specified
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Condition: not provided
DNAJB6-related disorder

Criteria Provided
Conflicting Classifications

CA4590322

rs_150583876

4 SubmittersRCV000401998 RCV000551732 RCV000725069 RCV003930062

NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln)

SNV
Germline

Chr8:143922808

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4925751

rs_201417343

9 SubmittersRCV000271394 RCV000702838 RCV001331247

NM_001267550.2(TTN):c.86601T>C (p.Asp28867=)

SNV
Germline

Chr2:178559531

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10604156

rs_886042382

3 SubmittersRCV000286562 RCV005771961 RCV006555758

NM_201384.3(PLEC):c.10521C>T (p.Asp3507=)

SNV
Germline

Chr8:143919300

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924622

rs_201905804

3 SubmittersRCV000264887 RCV001086942 RCV004535280

NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln)

SNV
Germline

Chr11:22262138

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA5923316

rs_139618850

7 SubmittersRCV000322343 RCV000807697 RCV000758149 RCV003323487 RCV005044527

NM_201384.3(PLEC):c.4626G>A (p.Arg1542=)

SNV
Germline

Chr8:143925303

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4926600

rs_782125781

2 SubmittersRCV000351670 RCV003765592

NM_013382.7(POMT2):c.651C>T (p.Ala217=)

SNV
Germline

Chr14:77302840

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA7286136

rs_147845081

5 SubmittersRCV000400290 RCV000725083 RCV001079001

NM_201384.3(PLEC):c.7527C>T (p.Ile2509=)

SNV
Germline

Chr8:143922294

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA4925595

rs_782605503

5 SubmittersRCV000265742 RCV001088180 RCV004999205

NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His)

SNV
Germline

Chr2:71669708

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707485

rs_762258343

3 SubmittersRCV000317613 RCV000754725 RCV002521880

NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)

SNV
Germline

Chr2:71526334

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Reviewed By Expert Panel

CA10604166

rs_886042389

6 SubmittersRCV000292426 RCV000725084 RCV001070518 RCV003317179 RCV003469225

NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)

SNV
Germline

Chr15:42410925

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
See cases
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10604167

rs_868791726

11 SubmittersRCV000295812 RCV000711016 RCV001420333 RCV003475893 RCV003323488

NM_004393.6(DAG1):c.1905C>T (p.Phe635=)

SNV
Germline

Chr3:49532416

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA2399171

rs_577609846

2 SubmittersRCV000402242 RCV001081466

NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met)

SNV
Germline

Chr2:178531241

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1985271

rs_747161494

6 SubmittersRCV000308416 RCV000312283 RCV000348047 RCV000354415 RCV000403199 RCV000394555 RCV000643140 RCV003235173

NM_201384.3(PLEC):c.1263+8G>A

SNV
Germline

Chr8:143933990

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10604172

rs_545715431

3 SubmittersRCV000288206 RCV001084877 RCV005625500

NM_201384.3(PLEC):c.1263+7G>C

SNV
Germline

Chr8:143933991

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4928077

rs_564072063

3 SubmittersRCV000339821 RCV001082651 RCV005625501

NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val)

SNV
Germline

Chr2:71611324

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706844

rs_201476613

8 SubmittersRCV000340111 RCV001086001 RCV001820813 RCV001835749

NM_201384.3(PLEC):c.3375C>G (p.Leu1125=)

SNV
Germline

Chr8:143927878

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA10604173

rs_782733038

3 SubmittersRCV000275640 RCV001491406

NM_001267550.2(TTN):c.97481G>A (p.Arg32494His)

SNV
Germline

Chr2:178542275

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1986555

rs_371645048

9 SubmittersRCV000330674 RCV000539619 RCV001130051 RCV001130050 RCV001130052 RCV001130748 RCV001130749 RCV002365301 RCV003486801

NM_001267550.2(TTN):c.90237C>T (p.His30079=)

SNV
Germline

Chr2:178552663

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987815

rs_756663688

5 SubmittersRCV000342013 RCV001081453 RCV003165726

NM_017739.4(POMGNT1):c.355-9A>G

SNV
Germline

Chr1:46196086

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA10604177

rs_886042396

2 SubmittersRCV000395745 RCV002059109

NM_001267550.2(TTN):c.9714G>A (p.Pro3238=)

SNV
Germline

Chr2:178764801

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10604178

rs_886042397

5 SubmittersRCV000307656 RCV001414599 RCV003165727 RCV005407010

NM_012470.4(TNPO3):c.2741C>T (p.Ala914Val)

SNV
Germline

Chr7:128957286

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F
TNPO3-related disorder

Criteria Provided
Conflicting Classifications

CA4477795

rs_61756249

5 SubmittersRCV000725088 RCV001083635 RCV003967715

NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)

SNV
Germline

Chr2:71570682

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706450

rs_760443264

8 SubmittersRCV000351237 RCV000665378 RCV001297834 RCV003469226 RCV004751419

NM_201384.3(PLEC):c.8697C>T (p.Ser2899=)

SNV
Germline

Chr8:143921124

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925215

rs_200383203

4 SubmittersRCV000349059 RCV001086252

NM_000023.4(SGCA):c.843C>A (p.Ala281=)

SNV
Germline

Chr17:50170238

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643927

rs_149487996

4 SubmittersRCV000398392 RCV001086852

NM_001267550.2(TTN):c.11337C>T (p.Ala3779=)

SNV
Germline

Chr2:178741896

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2002869

rs_375603989

2 SubmittersRCV000285427 RCV001472030

NM_201384.3(PLEC):c.10509G>A (p.Ala3503=)

SNV
Germline

Chr8:143919312

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924626

rs_189859084

3 SubmittersRCV000397150 RCV000725096 RCV001088717

NM_201384.3(PLEC):c.4855G>A (p.Glu1619Lys)

SNV
Germline

Chr8:143925074

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA4926521

rs_782026068

6 SubmittersRCV000527679 RCV000725097 RCV002518856 RCV006452555

NM_000070.3(CAPN3):c.1993-1G>A

SNV
Germline

Chr15:42409786

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA7511659

rs_369552114

9 SubmittersRCV000382987 RCV000420333 RCV000763350 RCV003475894 RCV005600889

NM_213599.3(ANO5):c.680G>C (p.Gly227Ala)

SNV
Germline

Chr11:22236194

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Gnathodiaphyseal dysplasia
ANO5-Related Muscle Diseases
Clear cell carcinoma of kidney
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA5922992

rs_140903276

9 SubmittersRCV000388640 RCV000710581 RCV001079543 RCV000988503 RCV001105479 RCV005895582 RCV005895583

NM_213599.3(ANO5):c.259G>A (p.Val87Ile)

SNV
Germline

Chr11:22221175

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
ANO5-Related Muscle Diseases
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA5922846

rs_34994927

8 SubmittersRCV000296622 RCV000710578 RCV001086686 RCV001108716 RCV000988501

NM_201384.3(PLEC):c.3368C>T (p.Pro1123Leu)

SNV
Germline

Chr8:143927885

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases
6 conditions
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927108

rs_376494828

7 SubmittersRCV000300309 RCV001088726 RCV004021109 RCV005396871 RCV004737401

NM_001267550.2(TTN):c.30309T>C (p.Phe10103=)

SNV
Germline

Chr2:178702578

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1999193

rs_762141482

6 SubmittersRCV000338923 RCV000725099 RCV001088764 RCV003150148

NM_013382.7(POMT2):c.1743G>A (p.Gly581=)

SNV
Germline

Chr14:77280063

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA7285724

rs_755254043

4 SubmittersRCV000302233 RCV000725100 RCV003765594

NM_201384.3(PLEC):c.13242C>T (p.Arg4414=)

SNV
Germline

Chr8:143916579

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4923872

rs_200589588

7 SubmittersRCV000292376 RCV000725101 RCV001087532 RCV004955369

NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)

SNV
Germline

Chr15:42401791

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Inborn genetic diseases
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA7511375

rs_148044781

14 SubmittersRCV000414202 RCV000644997 RCV002222470 RCV003475895 RCV005008235 RCV004017582 RCV004732818

NM_001267550.2(TTN):c.15822A>T (p.Ala5274=)

SNV
Germline

Chr2:178733471

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002146

rs_779456916

3 SubmittersRCV000371782 RCV000642964 RCV000725105

NM_201384.3(PLEC):c.9150A>G (p.Pro3050=)

SNV
Germline

Chr8:143920671

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925057

rs_782341043

2 SubmittersRCV000279513 RCV001079158

NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile)

SNV
Germline

Chr2:178570464

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990011

rs_370070176

4 SubmittersRCV000322924 RCV000643874 RCV000725106 RCV002338826

NM_058246.4(DNAJB6):c.479-10T>G

SNV
Germline

Chr7:157384857

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA10604204

rs_886042415

2 SubmittersRCV000379729 RCV001500584

NM_001267550.2(TTN):c.43653T>C (p.His14551=)

SNV
Germline

Chr2:178632241

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995824

rs_768244114

3 SubmittersRCV000290963 RCV001405003 RCV004992147

NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter)

SNV
Germline

Chr2:178732888

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy 9
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tip-toe gait
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10604206

rs_772235481

8 SubmittersRCV000312986 RCV000415222 RCV000814903 RCV003319194 RCV003992259

NM_004393.6(DAG1):c.717G>A (p.Ser239=)

SNV
Germline

Chr3:49531228

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P

Criteria Provided
Conflicting Classifications

CA2398949

rs_780120566

2 SubmittersRCV000288424 RCV001439897

NM_201384.3(PLEC):c.10302C>A (p.Thr3434=)

SNV
Germline

Chr8:143919519

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924690

rs_199879193

5 SubmittersRCV000725108 RCV001086383 RCV004737402

NM_201384.3(PLEC):c.3513C>T (p.Asp1171=)

SNV
Germline

Chr8:143927653

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927035

rs_377035218

3 SubmittersRCV000361104 RCV001078511

NM_201384.3(PLEC):c.9294C>T (p.Ala3098=)

SNV
Germline

Chr8:143920527

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925011

rs_376753842

5 SubmittersRCV000288880 RCV001080764

NM_000070.3(CAPN3):c.1611C>A (p.Tyr537Ter)

SNV
Germline

Chr15:42402868

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10604243

rs_886042439

7 SubmittersRCV000349807 RCV001729504 RCV004567826 RCV006445642

NM_001267550.2(TTN):c.42933T>C (p.Asn14311=)

SNV
Germline

Chr2:178633426

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1995991

rs_148528251

6 SubmittersRCV000263333 RCV000552297 RCV001130441 RCV001130443 RCV001131170 RCV001130442 RCV001130440 RCV002401979 RCV003235174

NM_000070.3(CAPN3):c.700G>A (p.Gly234Arg)

SNV
Germline

Chr15:42388995

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10604244

rs_886042440

4 SubmittersRCV000359000 RCV000819248 RCV004999206

NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln)

SNV
Germline

Chr2:71667478

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1707357

rs_148860301

10 SubmittersRCV000266653 RCV000725114 RCV000757894 RCV001141002 RCV001810440 RCV003463743

NM_201384.3(PLEC):c.4407C>T (p.Gly1469=)

SNV
Germline

Chr8:143925522

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926672

rs_376374602

2 SubmittersRCV000324136 RCV001488357

NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)

SNV
Germline

Chr2:178607961

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA1993920

rs_368820294

12 SubmittersRCV000365473 RCV000539986 RCV000725115 RCV002429216 RCV005025420

NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)

SNV
Germline

Chr15:42390016

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA7511150

rs_528417986

10 SubmittersRCV000340129 RCV000490012 RCV001814143 RCV002271482 RCV003475896 RCV005008236

NM_001101426.4(CRPPA):c.1120-4G>A

SNV
Germline

Chr7:16216201

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Conflicting Classifications

CA10604255

rs_886042445

2 SubmittersRCV000305226 RCV001411756

NM_001267550.2(TTN):c.2218C>A (p.Arg740Ser)

SNV
Germline

Chr2:178786000

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2005875

rs_566299753

3 SubmittersRCV000320686 RCV001087590

NM_001267550.2(TTN):c.58841T>C (p.Ile19614Thr)

SNV
Germline

Chr2:178593367

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1992767

rs_199933004

4 SubmittersRCV000402713 RCV001078694 RCV001133277 RCV001133278 RCV001133279 RCV001133280 RCV001133281

NM_001267550.2(TTN):c.43905A>C (p.Ala14635=)

SNV
Germline

Chr2:178631143

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10604258

rs_886042449

3 SubmittersRCV000353060 RCV003765596 RCV005761993

NM_201384.3(PLEC):c.8644C>T (p.Leu2882=)

SNV
Germline

Chr8:143921177

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925229

rs_376081492

6 SubmittersRCV000325591 RCV001478103 RCV004737403

NM_000070.3(CAPN3):c.1621C>G (p.Arg541Gly)

SNV
Germline

Chr15:42402878

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA10604265

rs_142004418

5 SubmittersRCV000294421 RCV000817085 RCV001535803

NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys)

SNV
Germline

Chr15:42410908

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA7511820

rs_764459544

7 SubmittersRCV000301610 RCV000725121 RCV003226273 RCV003463744 RCV005008237

NM_213599.3(ANO5):c.2610A>G (p.Leu870=)

SNV
Germline

Chr11:22279633

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5923627

rs_369103376

2 SubmittersRCV000365825 RCV001471076

NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)

SNV
Germline

Chr2:71643997

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707053

rs_544993852

6 SubmittersRCV000356459 RCV000542418 RCV001833323 RCV003977746

NM_001130987.2(DYSF):c.978A>T (p.Thr326=)

SNV
Germline

Chr2:71517015

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1705538

rs_112007817

5 SubmittersRCV000328096 RCV001085447 RCV001273973 RCV003955443

NM_201384.3(PLEC):c.5633G>A (p.Arg1878Gln)

SNV
Germline

Chr8:143924296

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA4926289

rs_373617951

7 SubmittersRCV000416273 RCV000687205 RCV004955370 RCV005431589

NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr)

SNV
Germline

Chr2:71570251

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706371

rs_34061568

8 SubmittersRCV000725139 RCV001084284 RCV001272823 RCV003920053

NM_001130987.2(DYSF):c.2409+1G>A

SNV
Germline

Chr2:71561945

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10604289

rs_151317754

6 SubmittersRCV000261362 RCV000349131 RCV001379694 RCV003463745 RCV005632351

NM_001267550.2(TTN):c.14049C>T (p.Ser4683=)

SNV
Germline

Chr2:178739184

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2002489

rs_370208081

5 SubmittersRCV000713969 RCV000619237 RCV001401383

NM_201384.3(PLEC):c.1245C>G (p.Ala415=)

SNV
Germline

Chr8:143934016

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4928094

rs_782527499

3 SubmittersRCV000325657 RCV001423299

NM_201384.3(PLEC):c.4351G>A (p.Glu1451Lys)

SNV
Germline

Chr8:143925578

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4926691

rs_868906137

8 SubmittersRCV000534113 RCV000725142 RCV002288959 RCV004737404 RCV006439908

NM_201384.3(PLEC):c.10743C>T (p.Gly3581=)

SNV
Germline

Chr8:143919078

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924543

rs_375573910

5 SubmittersRCV000298540 RCV000555102

NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)

SNV
Germline

Chr15:42360050

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
See cases
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA10604293

rs_886042478

11 SubmittersRCV000311426 RCV000489536 RCV003475897 RCV004797802 RCV005008238

NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser)

SNV
Germline

Chr2:178725412

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA2001156

rs_200866883

10 SubmittersRCV000270267 RCV000527307 RCV000725143 RCV001131795 RCV001131797 RCV001131796 RCV001131793 RCV001131794

NM_201384.3(PLEC):c.11373C>T (p.Ile3791=)

SNV
Germline

Chr8:143918448

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4924365

rs_782573219

2 SubmittersRCV000276264 RCV002521889

NM_201384.3(PLEC):c.13485C>T (p.Thr4495=)

SNV
Germline

Chr8:143916336

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4923785

rs_782206765

2 SubmittersRCV000327536 RCV001397557

NM_201384.3(PLEC):c.10458C>T (p.Asp3486=)

SNV
Germline

Chr8:143919363

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924646

rs_372064842

2 SubmittersRCV000312939 RCV001088489

NM_024301.5(FKRP):c.586G>C (p.Gly196Arg)

SNV
Germline

Chr19:46756036

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Conflicting Classifications

CA9532174

rs_759875552

6 SubmittersRCV000314155 RCV000673934 RCV002519121 RCV004021118 RCV003469227

NM_201384.3(PLEC):c.4488C>T (p.Ala1496=)

SNV
Germline

Chr8:143925441

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926643

rs_374108886

2 SubmittersRCV000265218 RCV001078749

NM_000070.3(CAPN3):c.2310C>T (p.Tyr770=)

SNV
Germline

Chr15:42410930

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511826

rs_780810538

2 SubmittersRCV000365423 RCV001089145

NM_201384.3(PLEC):c.540C>T (p.Cys180=)

SNV
Germline

Chr8:143935910

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4928410

rs_189256993

7 SubmittersRCV000710176 RCV001087405 RCV004737405 RCV004999207

NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser)

SNV
Germline

Chr2:178732584

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2002027

rs_377042940

7 SubmittersRCV000725150 RCV001085118

NM_001267550.2(TTN):c.80592A>G (p.Pro26864=)

SNV
Germline

Chr2:178565540

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989324

rs_769223218

3 SubmittersRCV000359485 RCV001474167 RCV004021120

NM_001267550.2(TTN):c.19881G>A (p.Ser6627=)

SNV
Germline

Chr2:178727697

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2001316

rs_371495674

8 SubmittersRCV000264814 RCV000725151 RCV001504953

NM_013382.7(POMT2):c.649G>A (p.Ala217Thr)

SNV
Germline

Chr14:77302842

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA7286137

rs_144748043

5 SubmittersRCV000725152 RCV001081512

NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter)

SNV
Germline

Chr7:16376133

Pathogenic

Condition: not provided
ISPD-related disorder
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Multiple Submitters
No Conflicts

CA4169552

rs_370627877

5 SubmittersRCV000342780 RCV000844945 RCV002229838

NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)

SNV
Germline

Chr2:178767782

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2004336

rs_146572907

10 SubmittersRCV000338901 RCV000535764 RCV001293221 RCV001815380 RCV002374458 RCV006605260

NM_201384.3(PLEC):c.12354C>T (p.Leu4118=)

SNV
Germline

Chr8:143917467

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924109

rs_782692436

4 SubmittersRCV000725156 RCV001082017 RCV004543012

NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)

SNV
Germline

Chr15:42399555

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy
CAPN3-related disorder

Reviewed By Expert Panel

CA7511304

rs_139836397

8 SubmittersRCV000342508 RCV000813198 RCV003475898 RCV004999209 RCV004732819

NM_201384.3(PLEC):c.11421C>T (p.Gly3807=)

SNV
Germline

Chr8:143918400

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924355

rs_782144786

3 SubmittersRCV000263823 RCV001461679 RCV004543013

NM_001267550.2(TTN):c.28971G>A (p.Ser9657=)

SNV
Germline

Chr2:178707596

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1999498

rs_370903846

5 SubmittersRCV000311992 RCV000725166 RCV001088735 RCV004543014

NM_201384.3(PLEC):c.3186G>A (p.Thr1062=)

SNV
Germline

Chr8:143929177

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4927178

rs_782437578

6 SubmittersRCV000272649 RCV000725170 RCV001083965 RCV005462930

NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)

SNV
Germline

Chr2:71665263

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA1707309

rs_147678255

10 SubmittersRCV000689268 RCV000711566 RCV001274852 RCV003278732 RCV005895589

NM_001267550.2(TTN):c.53142T>C (p.Asp17714=)

SNV
Germline

Chr2:178607546

Conflicting classifications of pathogenicity

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1993850

rs_373316165

8 SubmittersRCV000725173 RCV001132956 RCV001088861 RCV001132958 RCV001132957 RCV001132959 RCV001132955 RCV002436099 RCV004543015 RCV004782338

NM_201384.3(PLEC):c.10740C>T (p.His3580=)

SNV
Germline

Chr8:143919081

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924545

rs_201867859

2 SubmittersRCV000406695 RCV001086463

NM_201384.3(PLEC):c.6168C>T (p.Phe2056=)

SNV
Germline

Chr8:143923761

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926090

rs_370313601

3 SubmittersRCV000299343 RCV000725175 RCV001859566

NM_012470.4(TNPO3):c.696+8A>G

SNV
Germline

Chr7:129005008

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4478354

rs_754601386

2 SubmittersRCV000341134 RCV006462319

NM_001267550.2(TTN):c.54718G>A (p.Val18240Ile)

SNV
Germline

Chr2:178603969

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1993584

rs_375141729

5 SubmittersRCV000267586 RCV000547837 RCV005404474

NM_013382.7(POMT2):c.1654-8T>G

SNV
Germline

Chr14:77280471

Conflicting classifications of pathogenicity

not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7285766

rs_780532724

4 SubmittersRCV000340714 RCV000699063 RCV000712834

NM_201384.3(PLEC):c.10728C>T (p.Gly3576=)

SNV
Germline

Chr8:143919093

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924551

rs_372840016

5 SubmittersRCV000306155 RCV000725197 RCV001078899

NM_024301.5(FKRP):c.731G>A (p.Arg244His)

SNV
Germline

Chr19:46756181

Conflicting classifications of pathogenicity

not specified
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Condition: not provided
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Conflicting Classifications

CA9532194

rs_764641619

14 SubmittersRCV000331999 RCV000457561 RCV000664793 RCV000725201 RCV002379117 RCV005396872

NM_001849.4(COL6A2):c.446G>A (p.Arg149His)

SNV
Germline

Chr21:46112309

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy
Inborn genetic diseases
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10071293

rs_143891262

6 SubmittersRCV000372608 RCV001070638 RCV001143206 RCV004609342 RCV005621932

NM_001267550.2(TTN):c.30282T>G (p.Ser10094=)

SNV
Germline

Chr2:178702605

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10604379

rs_886042543

2 SubmittersRCV000321740 RCV001493033

NM_004369.4(COL6A3):c.2180A>C (p.Tyr727Ser)

SNV
Germline

Chr2:237378953

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA2189462

rs_113393241

5 SubmittersRCV000286708 RCV001246875 RCV005621933

NM_201384.3(PLEC):c.12717C>T (p.Asn4239=)

SNV
Germline

Chr8:143917104

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924001

rs_184192014

2 SubmittersRCV000354979 RCV001083736

NM_012470.4(TNPO3):c.2070T>C (p.Asn690=)

SNV
Germline

Chr7:128975927

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4477971

rs_560128689

2 SubmittersRCV000318744 RCV005090346

NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val)

SNV
Germline

Chr15:42409985

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10604398

rs_886042557

9 SubmittersRCV000311834 RCV000725206 RCV003475900 RCV005600890

NM_201384.3(PLEC):c.2785C>T (p.Leu929=)

SNV
Germline

Chr8:143929784

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927343

rs_369676162

5 SubmittersRCV000315590 RCV000725207 RCV001088336 RCV004535291

NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)

SNV
Germline

Chr15:42384511

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
not specified
Muscular dystrophy, limb-girdle, autosomal dominant 4
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA7510921

rs_747026964

10 SubmittersRCV000440617 RCV000675143 RCV002282100 RCV003475901 RCV004732820

NM_012470.4(TNPO3):c.275C>T (p.Thr92Ile)

SNV
Germline

Chr7:129018003

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F
TNPO3-related disorder

Criteria Provided
Conflicting Classifications

CA4478433

rs_61756250

5 SubmittersRCV000725208 RCV001083910 RCV003930075

NM_004393.6(DAG1):c.2192C>T (p.Ala731Val)

SNV
Germline

Chr3:49532703

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA2399224

rs_375071274

2 SubmittersRCV000325409 RCV001500518

NM_000070.3(CAPN3):c.1566G>A (p.Lys522=)

SNV
Germline

Chr15:42402823

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511438

rs_201116482

2 SubmittersRCV000282116 RCV002059125

NM_201384.3(PLEC):c.4077C>T (p.Arg1359=)

SNV
Germline

Chr8:143925852

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926775

rs_553047216

2 SubmittersRCV000272941 RCV000805045

NM_000023.4(SGCA):c.293G>C (p.Arg98Pro)

SNV
Germline

Chr17:50167717

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA10604429

rs_137852621

2 SubmittersRCV000280379 RCV001379322

NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val)

SNV
Germline

Chr2:71556002

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Cervical cancer

Criteria Provided
Conflicting Classifications

CA1706065

rs_145007061

7 SubmittersRCV000725234 RCV001087666 RCV001271785 RCV005895592

NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe)

SNV
Germline

Chr2:71669126

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10604436

rs_886042584

4 SubmittersRCV000725239 RCV000595427 RCV003463747

NM_201384.3(PLEC):c.7082C>T (p.Thr2361Met)

SNV
Germline

Chr8:143922847

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925765

rs_369522291

5 SubmittersRCV000340103 RCV001045422 RCV002518874

NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr)

SNV
Germline

Chr8:143918744

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924441

rs_369497741

8 SubmittersRCV000342261 RCV000725240 RCV001088184 RCV001731558 RCV004021125

NM_004393.6(DAG1):c.1690C>A (p.Leu564Ile)

SNV
Germline

Chr3:49532201

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P

Criteria Provided
Conflicting Classifications

CA2399120

rs_199894361

4 SubmittersRCV000390758 RCV000725241 RCV000704955

NM_201384.3(PLEC):c.13450G>A (p.Gly4484Ser)

SNV
Germline

Chr8:143916371

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4923805

rs_782650176

5 SubmittersRCV000712724 RCV001088628 RCV004021126

NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)

SNV
Germline

Chr15:42410645

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA7511779

rs_768090444

12 SubmittersRCV000279441 RCV000725244 RCV003475902 RCV005008239 RCV004999212

NM_201384.3(PLEC):c.3588C>T (p.Asp1196=)

SNV
Germline

Chr8:143927578

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA4927014

rs_377059744

7 SubmittersRCV000512702 RCV001086751 RCV006263823

NM_001267550.2(TTN):c.100116C>T (p.Phe33372=)

SNV
Germline

Chr2:178536993

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986079

rs_770089807

4 SubmittersRCV000340848 RCV000725250 RCV001428231 RCV002379118

NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln)

SNV
Germline

Chr2:178566249

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1989421

rs_201091376

7 SubmittersRCV000312083 RCV000725251 RCV001088389 RCV002338833 RCV004543020

NM_001267550.2(TTN):c.23352G>A (p.Thr7784=)

SNV
Germline

Chr2:178720410

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2000657

rs_745476881

3 SubmittersRCV000369233 RCV002518877

NM_024301.5(FKRP):c.169G>A (p.Glu57Lys)

SNV
Germline

Chr19:46755619

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA9532119

rs_773024545

7 SubmittersRCV000308811 RCV000634051 RCV001272535 RCV005238827

NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys)

SNV
Germline

Chr2:178565466

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1989318

rs_571328201

9 SubmittersRCV000365750 RCV000466790 RCV000620064 RCV002502106 RCV005431591

NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)

SNV
Germline

Chr1:46195859

Conflicting classifications of pathogenicity

Congenital Muscular Dystrophy, alpha-dystroglycan related
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease

Criteria Provided
Conflicting Classifications

CA833717

rs_138330966

6 SubmittersRCV000298962 RCV000386165 RCV000395975 RCV001079550 RCV001833327

NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile)

SNV
Germline

Chr3:49531533

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Inborn genetic diseases
DAG1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2398999

rs_148759919

10 SubmittersRCV000711406 RCV000648789 RCV002521895 RCV003909946 RCV005238828

NM_001267550.2(TTN):c.70137C>A (p.Thr23379=)

SNV
Germline

Chr2:178575995

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10604458

rs_770349910

3 SubmittersRCV000345369 RCV001436663 RCV002328765

NM_001267550.2(TTN):c.2611G>T (p.Val871Leu)

SNV
Germline

Chr2:178784234

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2005776

rs_72647861

5 SubmittersRCV000392857 RCV000536704

NM_201384.3(PLEC):c.12627C>T (p.Ile4209=)

SNV
Germline

Chr8:143917194

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924036

rs_372573622

3 SubmittersRCV000295705 RCV001085753

NM_201384.3(PLEC):c.12243C>T (p.Thr4081=)

SNV
Germline

Chr8:143917578

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924141

rs_185022156

8 SubmittersRCV000297406 RCV000585456 RCV001083844 RCV004543022

NM_058246.4(DNAJB6):c.428C>T (p.Ala143Val)

SNV
Germline

Chr7:157382327

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4590514

rs_757767434

3 SubmittersRCV000351054 RCV001231363 RCV004021135

NM_001130987.2(DYSF):c.1033+2T>C

SNV
Germline

Chr2:71520210

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA10604480

rs_886042617

2 SubmittersRCV000264216 RCV003338500

NM_001267550.2(TTN):c.97493-5T>C

SNV
Germline

Chr2:178541589

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10604482

rs_886042619

2 SubmittersRCV000330621 RCV003765603

NM_201384.3(PLEC):c.13209G>A (p.Pro4403=)

SNV
Germline

Chr8:143916612

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4923883

rs_200338374

4 SubmittersRCV000261916 RCV001087033 RCV001731559

NM_001267550.2(TTN):c.21475G>A (p.Val7159Ile)

SNV
Germline

Chr2:178723625

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA2001018

rs_371267140

5 SubmittersRCV000260504 RCV000558901 RCV005238829

NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp)

SNV
Germline

Chr2:178663048

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10604489

rs_796478043

4 SubmittersRCV000263993 RCV000458463 RCV000725270

NM_013382.7(POMT2):c.1977G>C (p.Arg659=)

SNV
Germline

Chr14:77278784

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA7285580

rs_746640722

2 SubmittersRCV000383254 RCV003765604

NM_213599.3(ANO5):c.1548C>T (p.Leu516=)

SNV
Germline

Chr11:22259659

Conflicting classifications of pathogenicity

Condition: not provided
ANO5-Related Muscle Diseases
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA10604491

rs_886042624

3 SubmittersRCV000297485 RCV001106645 RCV002521899

NM_001267550.2(TTN):c.70026T>C (p.Pro23342=)

SNV
Germline

Chr2:178576106

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10604493

rs_878983731

3 SubmittersRCV000266059 RCV001461812 RCV002328767

NM_012470.4(TNPO3):c.2625C>T (p.Ser875=)

SNV
Germline

Chr7:128967366

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4477820

rs_201210726

2 SubmittersRCV000358615 RCV001086133

NM_000023.4(SGCA):c.80C>T (p.Thr27Met)

SNV
Germline

Chr17:50167410

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
Sarcoglycanopathy
SGCA-related disorder

Criteria Provided
Conflicting Classifications

CA8643689

rs_565069721

5 SubmittersRCV000328161 RCV001083421 RCV001128409 RCV004755838

NM_001267550.2(TTN):c.86949A>G (p.Glu28983=)

SNV
Germline

Chr2:178558510

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tip-toe gait
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988403

rs_375565646

10 SubmittersRCV000269714 RCV000725274 RCV001085091 RCV001129400 RCV001132114 RCV001129401 RCV001129402 RCV001129403 RCV002227467 RCV002356373

NM_001130987.2(DYSF):c.1481G>A (p.Arg494His)

SNV
Germline

Chr2:71535299

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705768

rs_199879861

6 SubmittersRCV000330051 RCV000525084 RCV001274442

NM_201384.3(PLEC):c.10779G>A (p.Ser3593=)

SNV
Germline

Chr8:143919042

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4924537

rs_375360480

2 SubmittersRCV000317097 RCV001088588

NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter)

SNV
Germline

Chr2:71551676

Pathogenic/Likely pathogenic

Condition: not provided
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA10604502

rs_886042633

3 SubmittersRCV000259897 RCV001727667 RCV001859579

NM_001079802.2(FKTN):c.1228C>A (p.His410Asn)

SNV
Germline

Chr9:105635106

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Dilated cardiomyopathy 1X
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
FKTN-related disorder

Criteria Provided
Conflicting Classifications

CA5170600

rs_146272618

6 SubmittersRCV000380549 RCV000766041 RCV001081484 RCV002365305 RCV004543026

NM_201384.3(PLEC):c.6240C>T (p.Arg2080=)

SNV
Germline

Chr8:143923689

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926073

rs_576688705

4 SubmittersRCV000286234 RCV000725278 RCV001080282

NM_001130987.2(DYSF):c.5785-7G>A

SNV
Germline

Chr2:71674190

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Reviewed By Expert Panel

CA1707510

rs_753861836

11 SubmittersRCV000331428 RCV000485381 RCV001058932 RCV001788187 RCV003469228

NM_013382.7(POMT2):c.2223A>G (p.Gly741=)

SNV
Germline

Chr14:77277406

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA7285516

rs_554801559

2 SubmittersRCV000333929 RCV001088538

NM_001267550.2(TTN):c.49465A>C (p.Arg16489=)

SNV
Germline

Chr2:178613818

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1994594

rs_748959693

2 SubmittersRCV000375540 RCV000643722

NM_001130987.2(DYSF):c.2943C>T (p.Gly981=)

SNV
Germline

Chr2:71569898

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA10604507

rs_886042637

3 SubmittersRCV000261131 RCV003153550

NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr)

SNV
Germline

Chr2:178568064

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Hypertrophic cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1989666

rs_572384303

8 SubmittersRCV000316374 RCV000643246 RCV000768916 RCV001293049 RCV001707610 RCV002347994 RCV004535298

NM_001130987.2(DYSF):c.2011G>A (p.Gly671Ser)

SNV
Germline

Chr2:71553833

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706026

rs_538170367

4 SubmittersRCV000348203 RCV001466761 RCV001823130 RCV004619239

NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=)

SNV
Germline

Chr2:71590266

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706624

rs_201319864

5 SubmittersRCV000262877 RCV001088632 RCV001272832 RCV003920065

NM_001267550.2(TTN):c.53507G>A (p.Arg17836His)

SNV
Germline

Chr2:178607095

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993799

rs_373526624

8 SubmittersRCV000282260 RCV000318089 RCV000302673 RCV000336131 RCV000337689 RCV000394206 RCV000619450 RCV000863478 RCV001798770 RCV005243181

NM_012470.4(TNPO3):c.2274-5A>G

SNV
Germline

Chr7:128972587

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4477901

rs_567711266

3 SubmittersRCV000326809 RCV001078657

NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)

SNV
Germline

Chr2:71481890

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA10604511

rs_886042641

5 SubmittersRCV000323798 RCV000695592 RCV000984260

NM_213599.3(ANO5):c.44A>G (p.Glu15Gly)

SNV
Germline

Chr11:22203807

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10604517

rs_886042647

3 SubmittersRCV000273128 RCV000699852 RCV004639202

NM_213599.3(ANO5):c.2030-3C>A

SNV
Germline

Chr11:22272781

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA10604525

rs_752534913

2 SubmittersRCV000307227 RCV001359170

NM_201384.3(PLEC):c.4134G>A (p.Ala1378=)

SNV
Germline

Chr8:143925795

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926758

rs_558224639

3 SubmittersRCV000361822 RCV000725293 RCV001087599

NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro)

SNV
Germline

Chr2:178621908

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995518

rs_369992659

5 SubmittersRCV000284858 RCV000458786 RCV002401985

NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu)

SNV
Germline

Chr2:71612774

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706972

rs_139411595

6 SubmittersRCV000278721 RCV000792442 RCV001274838 RCV002518888 RCV003909953

NM_001267550.2(TTN):c.44790G>A (p.Lys14930=)

SNV
Germline

Chr2:178624490

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10604538

rs_886042667

2 SubmittersRCV000309362 RCV001457824

NM_201384.3(PLEC):c.13068C>T (p.Phe4356=)

SNV
Germline

Chr8:143916753

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4923913

rs_2855765

2 SubmittersRCV000261616 RCV001085469

NM_001267550.2(TTN):c.103113T>C (p.Asn34371=)

SNV
Germline

Chr2:178533502

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10604539

rs_886042668

3 SubmittersRCV000267629 RCV001424789 RCV004992150

NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys)

SNV
Germline

Chr2:178730979

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2001772

rs_561557554

8 SubmittersRCV000305679 RCV001086493 RCV001170643 RCV004535302

NM_201384.3(PLEC):c.8505C>T (p.Phe2835=)

SNV
Germline

Chr8:143921316

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925285

rs_782326556

2 SubmittersRCV000260113 RCV001088842

NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn)

SNV
Germline

Chr8:143923151

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925865

rs_371763907

4 SubmittersRCV000328457 RCV000545783

NM_001267550.2(TTN):c.98151G>A (p.Arg32717=)

SNV
Germline

Chr2:178539914

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986420

rs_757402291

3 SubmittersRCV000326357 RCV002059132 RCV004992151

NM_201384.3(PLEC):c.9828G>A (p.Thr3276=)

SNV
Germline

Chr8:143919993

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924840

rs_201736785

2 SubmittersRCV000279723 RCV001455487

NM_013382.7(POMT2):c.1407G>T (p.Val469=)

SNV
Germline

Chr14:77285558

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA10604553

rs_886042679

2 SubmittersRCV000311474 RCV003765609

NM_001267550.2(TTN):c.56019T>C (p.Thr18673=)

SNV
Germline

Chr2:178600885

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993342

rs_183047238

8 SubmittersRCV000264622 RCV000725305 RCV001088673 RCV001170598 RCV002436102

NM_001267550.2(TTN):c.42785G>A (p.Trp14262Ter)

SNV
Germline

Chr2:178633574

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10604556

rs_886042681

2 SubmittersRCV000309840 RCV003765611

NM_017739.4(POMGNT1):c.1111-6T>C

SNV
Germline

Chr1:46193221

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833485

rs_751751349

2 SubmittersRCV000306178 RCV002059133

NM_000070.3(CAPN3):c.1746-7C>G

SNV
Germline

Chr15:42403734

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Lymphoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7511492

rs_199978708

7 SubmittersRCV000382613 RCV001084708 RCV005895623 RCV005895622

NM_201384.3(PLEC):c.12438C>T (p.Pro4146=)

SNV
Germline

Chr8:143917383

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA10604557

rs_781866639

2 SubmittersRCV000347877 RCV002521908

NM_058246.4(DNAJB6):c.63G>A (p.Lys21=)

SNV
Germline

Chr7:157358635

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA10604559

rs_886042682

2 SubmittersRCV000396152 RCV001471744

NM_000070.3(CAPN3):c.1251G>A (p.Thr417=)

SNV
Germline

Chr15:42399549

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511302

rs_151090625

4 SubmittersRCV000286857 RCV001121213

NM_201384.3(PLEC):c.3045G>T (p.Pro1015=)

SNV
Germline

Chr8:143929450

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA10604562

rs_368477108

3 SubmittersRCV000267240 RCV001493456

NM_201384.3(PLEC):c.4469G>A (p.Arg1490Gln)

SNV
Germline

Chr8:143925460

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926649

rs_371290504

5 SubmittersRCV000364557 RCV001061859

NM_058246.4(DNAJB6):c.235+9G>T

SNV
Germline

Chr7:157366570

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA10604567

rs_552613359

2 SubmittersRCV000344313 RCV001439085

NM_000231.3(SGCG):c.195+1G>C

SNV
Germline

Chr13:23203890

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA6909586

rs_200502077

5 SubmittersRCV000340955 RCV000725317 RCV001553764

NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile)

SNV
Germline

Chr2:178590029

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1992331

rs_764777213

7 SubmittersRCV000343013 RCV000268735 RCV000408107 RCV000307537 RCV000313422 RCV000370392 RCV000642943 RCV005895624

NM_201384.3(PLEC):c.366T>C (p.Asn122=)

SNV
Germline

Chr8:143937048

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4928466

rs_782096761

3 SubmittersRCV000298683 RCV001427383

NM_001267550.2(TTN):c.64785T>C (p.Tyr21595=)

SNV
Germline

Chr2:178584856

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1991838

rs_751009684

4 SubmittersRCV000268933 RCV002347995 RCV001859582

NM_001267550.2(TTN):c.87081A>G (p.Arg29027=)

SNV
Germline

Chr2:178558378

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10604574

rs_886042694

3 SubmittersRCV000272245 RCV002059136 RCV002356376

NM_001267550.2(TTN):c.101262A>G (p.Gly33754=)

SNV
Germline

Chr2:178535353

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985908

rs_374878689

7 SubmittersRCV000316560 RCV000725318 RCV001083010 RCV001128948 RCV001128949 RCV001128950 RCV001128951 RCV001128952 RCV002379121

NM_001267550.2(TTN):c.72174T>C (p.Pro24058=)

SNV
Germline

Chr2:178573958

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10604582

rs_886042700

4 SubmittersRCV000301997 RCV003765612

NM_058246.4(DNAJB6):c.962C>T (p.Ser321Leu)

SNV
Germline

Chr7:157416079

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6-related disorder

Criteria Provided
Conflicting Classifications

CA4590682

rs_142974468

5 SubmittersRCV000359228 RCV000725321 RCV001079558 RCV003930085

NM_201384.3(PLEC):c.7983C>T (p.Ala2661=)

SNV
Germline

Chr8:143921838

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925460

rs_376058402

3 SubmittersRCV000725322 RCV001079511

NM_201384.3(PLEC):c.12718G>A (p.Ala4240Thr)

SNV
Germline

Chr8:143917103

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924000

rs_201688261

5 SubmittersRCV000648536 RCV000725329

NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys)

SNV
Germline

Chr2:178546795

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987088

rs_202187398

8 SubmittersRCV000392444 RCV000549205 RCV000618447

NM_201384.3(PLEC):c.6096G>C (p.Ser2032=)

SNV
Germline

Chr8:143923833

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926111

rs_564245730

5 SubmittersRCV000298792 RCV000725349 RCV001089057 RCV004543034

NM_213599.3(ANO5):c.720G>T (p.Leu240=)

SNV
Germline

Chr11:22236234

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases

Criteria Provided
Conflicting Classifications

CA5923000

rs_147121216

6 SubmittersRCV000710077 RCV001085068 RCV001105480

NM_201384.3(PLEC):c.8066G>A (p.Arg2689His)

SNV
Germline

Chr8:143921755

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925429

rs_782161008

3 SubmittersRCV000314788 RCV000554534 RCV000725362

NM_201384.3(PLEC):c.5787G>A (p.Ala1929=)

SNV
Germline

Chr8:143924142

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926238

rs_368886943

2 SubmittersRCV000357581 RCV001413979

NM_213599.3(ANO5):c.1860G>A (p.Gly620=)

SNV
Germline

Chr11:22263005

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA10604639

rs_886042751

2 SubmittersRCV000328784 RCV001443918

NM_201384.3(PLEC):c.1650C>T (p.Ser550=)

SNV
Germline

Chr8:143932880

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927907

rs_541271992

4 SubmittersRCV000276882 RCV000725363 RCV001078989

NM_201384.3(PLEC):c.9315C>T (p.Tyr3105=)

SNV
Germline

Chr8:143920506

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA10604643

rs_886044818

2 SubmittersRCV000283619 RCV002059141

NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)

SNV
Germline

Chr2:71515717

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705480

rs_140002194

10 SubmittersRCV000488274 RCV001142308 RCV001828197 RCV002518899 RCV002494838

NM_213599.3(ANO5):c.689A>G (p.Asp230Gly)

SNV
Germline

Chr11:22236203

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5922994

rs_139259793

4 SubmittersRCV000369519 RCV000645360

NM_201384.3(PLEC):c.8496C>T (p.Arg2832=)

SNV
Germline

Chr8:143921325

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925288

rs_369013440

3 SubmittersRCV000262071 RCV001088900 RCV004535310

NM_001077365.2(POMT1):c.330C>G (p.Leu110=)

SNV
Germline

Chr9:131507417

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA5293231

rs_138064523

5 SubmittersRCV000725366 RCV001080804 RCV001169105

NM_201384.3(PLEC):c.6099G>A (p.Ala2033=)

SNV
Germline

Chr8:143923830

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926108

rs_375465011

6 SubmittersRCV000725367 RCV001083637 RCV004543035

NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)

SNV
Germline

Chr2:71564125

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA1706183

rs_35297901

10 SubmittersRCV000356959 RCV000695150 RCV001271793 RCV002487214 RCV005863084 RCV005895631

NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val)

SNV
Germline

Chr2:178723318

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000967

rs_761223583

6 SubmittersRCV000290753 RCV000469081 RCV000725369

NM_000231.3(SGCG):c.386-2A>G

SNV
Germline

Chr13:23279357

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA10604647

rs_886042757

4 SubmittersRCV000268438 RCV002265724 RCV002518901

NM_001101426.4(CRPPA):c.255G>A (p.Glu85=)

SNV
Germline

Chr7:16421068

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Conflicting Classifications

CA10604650

rs_886042759

2 SubmittersRCV000391254 RCV001469284

NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser)

SNV
Germline

Chr2:178739971

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Tip-toe gait
not specified

Criteria Provided
Conflicting Classifications

CA2002605

rs_72648922

10 SubmittersRCV000617967 RCV000537307 RCV000770108 RCV000513491 RCV002244732 RCV005404476

NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)

SNV
Germline

Chr15:42399616

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA7511318

rs_777323132

10 SubmittersRCV000269452 RCV000725372 RCV003475903 RCV006257291

NM_004393.6(DAG1):c.2451C>T (p.Leu817=)

SNV
Germline

Chr3:49532962

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P

Criteria Provided
Conflicting Classifications

CA10604652

rs_886042761

2 SubmittersRCV000365250 RCV002059142

NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)

SNV
Germline

Chr2:178530049

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1985103

rs_200716018

10 SubmittersRCV000274809 RCV001132843 RCV001131858 RCV001132844 RCV001132845 RCV001132846 RCV001798771 RCV000643584 RCV002418111 RCV003987488 RCV004734927

NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)

SNV
Germline

Chr2:71570626

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706432

rs_764931697

7 SubmittersRCV000313635 RCV000701610 RCV000666376 RCV002494839

NM_013382.7(POMT2):c.1726-9A>G

SNV
Germline

Chr14:77280089

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA7285728

rs_747493997

2 SubmittersRCV000344431 RCV003765614

NM_001267550.2(TTN):c.15497-7T>C

SNV
Germline

Chr2:178733899

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10604678

rs_886042782

2 SubmittersRCV000352050 RCV002518905

NM_001267550.2(TTN):c.78371T>A (p.Ile26124Asn)

SNV
Germline

Chr2:178567761

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989615

rs_778290450

6 SubmittersRCV000292975 RCV000301078 RCV000362867 RCV000643214 RCV000352547 RCV000397609 RCV000400050 RCV001798772 RCV002338838

NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=)

SNV
Germline

Chr2:178607462

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1993839

rs_202200861

8 SubmittersRCV000291190 RCV000725391 RCV001079869 RCV002429218 RCV003150149 RCV004734928

NM_001267550.2(TTN):c.88983C>T (p.Gly29661=)

SNV
Germline

Chr2:178554128

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1988004

rs_371678936

6 SubmittersRCV000283983 RCV000725392 RCV001078767 RCV002356378 RCV003486803

NM_201384.3(PLEC):c.5968G>A (p.Val1990Met)

SNV
Germline

Chr8:143923961

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926163

rs_201588551

8 SubmittersRCV000342524 RCV000648497 RCV001808730 RCV004737410

NM_201384.3(PLEC):c.8762C>T (p.Thr2921Met)

SNV
Germline

Chr8:143921059

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925193

rs_191036710

6 SubmittersRCV000337095 RCV000648496 RCV001808731 RCV004737411

NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter)

SNV
Germline

Chr2:178531130

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10604692

rs_886042795

3 SubmittersRCV000579111 RCV001377585

NM_004393.6(DAG1):c.510C>T (p.Ala170=)

SNV
Germline

Chr3:49531021

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA2398919

rs_147153370

2 SubmittersRCV000334505 RCV001455960

NM_001267550.2(TTN):c.9220C>T (p.Arg3074Ter)

SNV
Germline

Chr2:178768099

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10604694

rs_780706937

3 SubmittersRCV000312175 RCV001859593

NM_000070.3(CAPN3):c.1020G>T (p.Gly340=)

SNV
Germline

Chr15:42392713

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511220

rs_372401631

3 SubmittersRCV000343857 RCV001087287

NM_201384.3(PLEC):c.7083G>A (p.Thr2361=)

SNV
Germline

Chr8:143922846

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925764

rs_780337094

2 SubmittersRCV000265743 RCV001443044

NM_001267550.2(TTN):c.100295G>A (p.Arg33432His)

SNV
Germline

Chr2:178536452

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1986047

rs_374876608

5 SubmittersRCV002379125 RCV000396330 RCV000475977

NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)

SNV
Germline

Chr2:71569884

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1706331

rs_202218890

14 SubmittersRCV000262612 RCV000725415 RCV000763505 RCV000791498 RCV003401245 RCV003469231 RCV006445646

NM_001267550.2(TTN):c.8902+1G>A

SNV
Germline

Chr2:178769678

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2004508

rs_770392096

6 SubmittersRCV000291900 RCV002374461 RCV002518919 RCV005238834

NM_058246.4(DNAJB6):c.831T>G (p.Ser277=)

SNV
Germline

Chr7:157409934

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA4590650

rs_369098407

4 SubmittersRCV000347431 RCV000725422 RCV001520299

NM_201384.3(PLEC):c.9081G>A (p.Ala3027=)

SNV
Germline

Chr8:143920740

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925079

rs_199758196

8 SubmittersRCV000725424 RCV001081883 RCV004535317

NM_201384.3(PLEC):c.2775C>T (p.Ala925=)

SNV
Germline

Chr8:143929794

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927344

rs_201202488

5 SubmittersRCV000725425 RCV001087328

NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser)

SNV
Germline

Chr2:178563151

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1988990

rs_201422612

8 SubmittersRCV000285473 RCV000337312 RCV000339356 RCV000345217 RCV000379804 RCV000391200 RCV000642902 RCV002347997 RCV005625503

NM_001130987.2(DYSF):c.1577-1699C>T

SNV
Germline

Chr2:71549342

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705835

rs_183489578

3 SubmittersRCV000349882 RCV001087804 RCV001276728

NM_001267550.2(TTN):c.49310T>A (p.Val16437Asp)

SNV
Germline

Chr2:178614087

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA1994638

rs_767768313

4 SubmittersRCV000317246 RCV001135517 RCV001130437 RCV001130438 RCV001130439 RCV001135516 RCV005051770

NM_013382.7(POMT2):c.1935C>T (p.Leu645=)

SNV
Germline

Chr14:77278826

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
not specified
POMT2-related disorder

Criteria Provided
Conflicting Classifications

CA7285590

rs_141193672

5 SubmittersRCV000307780 RCV001089293 RCV001820818 RCV003939993

NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)

SNV
Germline

Chr15:42402893

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511450

rs_372438001

8 SubmittersRCV000591859 RCV000725457 RCV001814146 RCV005008244

NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)

SNV
Germline

Chr2:178570605

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1990033

rs_375693396

10 SubmittersRCV000294438 RCV000459157 RCV000618051 RCV000764316 RCV003235176

NM_201384.3(PLEC):c.5520C>T (p.Ala1840=)

SNV
Germline

Chr8:143924409

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA4926339

rs_374790646

5 SubmittersRCV000725458 RCV001080163 RCV006436717

NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr)

SNV
Germline

Chr15:42387787

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA10604803

rs_794727615

3 SubmittersRCV001004990 RCV000354989 RCV005409645

NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)

SNV
Germline

Chr2:71481940

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10604804

rs_886042878

6 SubmittersRCV000596973 RCV000725459 RCV003736685 RCV006252447

NM_001130987.2(DYSF):c.5635G>A (p.Val1879Met)

SNV
Germline

Chr2:71669200

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA10604806

rs_886042880

5 SubmittersRCV000265900 RCV001859602 RCV003401247 RCV006263826

NM_004393.6(DAG1):c.2043C>T (p.Ile681=)

SNV
Germline

Chr3:49532554

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P

Criteria Provided
Conflicting Classifications

CA2399198

rs_543326525

2 SubmittersRCV000301542 RCV002519153

NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser)

SNV
Germline

Chr2:178546728

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10604814

rs_886042885

5 SubmittersRCV000339664 RCV000466365 RCV002365312

NM_201384.3(PLEC):c.10158G>A (p.Ala3386=)

SNV
Germline

Chr8:143919663

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924736

rs_373820763

4 SubmittersRCV000286049 RCV001080505

NM_000232.5(SGCB):c.31C>T (p.Gln11Ter)

SNV
Germline

Chr4:52038229

Pathogenic/Likely pathogenic

Condition: not provided
Limb-girdle muscular dystrophy, recessive
Qualitative or quantitative defects of beta-sarcoglycan
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA10604818

rs_752492870

7 SubmittersRCV000315588 RCV000353900 RCV000778733 RCV000808980

NM_201384.3(PLEC):c.7220G>A (p.Arg2407Gln)

SNV
Germline

Chr8:143922709

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925722

rs_782618396

5 SubmittersRCV000725470 RCV000819705 RCV004543046

NM_001130987.2(DYSF):c.1311C>T (p.Ile437=)

SNV
Germline

Chr2:71528332

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705699

rs_148697028

6 SubmittersRCV000406958 RCV000543795 RCV001731560 RCV001828203

NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)

SNV
Germline

Chr15:42399631

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511320

rs_773827877

13 SubmittersRCV000405059 RCV000725472 RCV002282104 RCV003475905

NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly)

SNV
Germline

Chr15:42399554

Likely pathogenic

Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A

Reviewed By Expert Panel

CA10604828

rs_886042895

6 SubmittersRCV000596878 RCV003463755 RCV004999218 RCV005008245 RCV006462328

NM_001267550.2(TTN):c.89520C>T (p.Asp29840=)

SNV
Germline

Chr2:178553380

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987897

rs_746569192

6 SubmittersRCV000326060 RCV001089009 RCV001131264 RCV001131265 RCV001131266 RCV001131267 RCV001131268 RCV002365313

NM_201384.3(PLEC):c.9692G>A (p.Arg3231His)

SNV
Germline

Chr8:143920129

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924885

rs_377610697

6 SubmittersRCV000725484 RCV001078905 RCV003243040 RCV004543049

NM_213599.3(ANO5):c.2237C>A (p.Ala746Asp)

SNV
Germline

Chr11:22274570

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10604844

rs_886042907

5 SubmittersRCV000359347 RCV002518938 RCV003362742

NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys)

SNV
Germline

Chr2:71568053

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706245

rs_200049922

8 SubmittersRCV000416052 RCV000531939 RCV001271795

NM_201384.3(PLEC):c.1878T>A (p.Thr626=)

SNV
Germline

Chr8:143932499

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927805

rs_377039110

3 SubmittersRCV000316432 RCV001088096

NM_201384.3(PLEC):c.8065C>T (p.Arg2689Cys)

SNV
Germline

Chr8:143921756

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925430

rs_373228579

4 SubmittersRCV000286573 RCV000544250 RCV002519156

NM_201384.3(PLEC):c.5874G>A (p.Thr1958=)

SNV
Germline

Chr8:143924055

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926206

rs_185082202

4 SubmittersRCV000280542 RCV001081127 RCV004535327

NM_000070.3(CAPN3):c.2109C>T (p.Leu703=)

SNV
Germline

Chr15:42409989

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
not specified

Criteria Provided
Conflicting Classifications

CA7511713

rs_371577901

4 SubmittersRCV000356636 RCV001079737 RCV005238837

NM_001267550.2(TTN):c.39813A>G (p.Pro13271=)

SNV
Germline

Chr2:178650168

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA1996599

rs_373429851

8 SubmittersRCV000344919 RCV001081063 RCV001131778 RCV001131780 RCV001131779 RCV001131781 RCV001131782 RCV001723871

NM_004393.6(DAG1):c.1875G>A (p.Lys625=)

SNV
Germline

Chr3:49532386

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P

Criteria Provided
Conflicting Classifications

CA10604871

rs_886042920

2 SubmittersRCV000342272 RCV003765622

NM_000023.4(SGCA):c.307A>G (p.Ile103Val)

SNV
Germline

Chr17:50167731

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2D
not specified
Condition: not provided
Sarcoglycanopathy

Criteria Provided
Conflicting Classifications

CA8643746

rs_370819630

7 SubmittersRCV000277867 RCV005238838 RCV000725508 RCV001122686

NM_213599.3(ANO5):c.1497A>G (p.Ala499=)

SNV
Germline

Chr11:22259608

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA10604874

rs_886042923

2 SubmittersRCV000391587 RCV002059159

NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)

SNV
Germline

Chr17:50167716

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided
Muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA8643744

rs_138945081

9 SubmittersRCV000309945 RCV000485521 RCV004798826 RCV004701375

NM_000231.3(SGCG):c.539A>T (p.Glu180Val)

SNV
Germline

Chr13:23295448

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C
SGCG-related disorder

Criteria Provided
Conflicting Classifications

CA6909734

rs_114160429

5 SubmittersRCV000297423 RCV001086671 RCV003957431

NM_000337.6(SGCD):c.756G>A (p.Thr252=)

SNV
Germline

Chr5:156759273

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2F
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3530690

rs_756467431

5 SubmittersRCV000407797 RCV001084796 RCV002392801 RCV005407015

NM_201384.3(PLEC):c.9718G>A (p.Glu3240Lys)

SNV
Germline

Chr8:143920103

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924877

rs_75857070

6 SubmittersRCV000270984 RCV000537651 RCV001079482 RCV004535330 RCV006362199

NM_201384.3(PLEC):c.10173G>A (p.Ala3391=)

SNV
Germline

Chr8:143919648

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4924730

rs_549730049

2 SubmittersRCV000281778 RCV001455937

NM_001267550.2(TTN):c.41406C>T (p.Cys13802=)

SNV
Germline

Chr2:178636165

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996272

rs_749356221

5 SubmittersRCV000295285 RCV000542671 RCV003165739

NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)

SNV
Germline

Chr2:71515716

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1705479

rs_149827237

12 SubmittersRCV000595594 RCV001379021 RCV001254624 RCV002502122 RCV003469232 RCV006252448

NM_001130987.2(DYSF):c.3085+2T>C

SNV
Germline

Chr2:71570336

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10604913

rs_886042951

7 SubmittersRCV000280615 RCV001037309 RCV001828208 RCV003469233 RCV006252449

NM_000070.3(CAPN3):c.1841A>G (p.Glu614Gly)

SNV
Germline

Chr15:42408251

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511572

rs_111525622

2 SubmittersRCV000319023 RCV001855145

NM_001130987.2(DYSF):c.2864+8G>A

SNV
Germline

Chr2:71568346

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706300

rs_371686795

4 SubmittersRCV000308748 RCV001086799 RCV001271798 RCV003939998

NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu)

SNV
Germline

Chr2:71674286

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1707524

rs_750860886

6 SubmittersRCV000262181 RCV000648008 RCV001276869 RCV004619242

NM_201384.3(PLEC):c.10074C>T (p.Ala3358=)

SNV
Germline

Chr8:143919747

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4924765

rs_782741359

2 SubmittersRCV000401434 RCV001431829

NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)

SNV
Germline

Chr2:71598667

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1706662

rs_148858485

7 SubmittersRCV000274574 RCV000725546 RCV001083505 RCV001276446 RCV001509578

NM_000070.3(CAPN3):c.1332C>T (p.Ala444=)

SNV
Germline

Chr15:42399630

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10604936

rs_886042968

2 SubmittersRCV000322207 RCV001434526

NM_001101426.4(CRPPA):c.840A>G (p.Arg280=)

SNV
Germline

Chr7:16278222

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Conflicting Classifications

CA10604939

rs_148054819

3 SubmittersRCV000337572 RCV001257052

NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu)

SNV
Germline

Chr2:71526299

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705655

rs_746610724

5 SubmittersRCV000264809 RCV001241483 RCV001828209 RCV002521928

NM_213599.3(ANO5):c.295-7G>A

SNV
Germline

Chr11:22225977

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5922875

rs_753416246

2 SubmittersRCV000384541 RCV001446742

NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)

SNV
Germline

Chr1:46193630

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease

Criteria Provided
Conflicting Classifications

CA833545

rs_146933218

8 SubmittersRCV000295933 RCV000343795 RCV000385748 RCV000725556 RCV001081570 RCV001277253

NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)

SNV
Germline

Chr17:50168390

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA8643795

rs_780264754

9 SubmittersRCV000286102 RCV000725557 RCV006445648

NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn)

SNV
Germline

Chr15:42388928

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10604967

rs_779701414

6 SubmittersRCV000339333 RCV000667247 RCV004999223

NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter)

SNV
Germline

Chr2:178733371

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10604970

rs_886042995

7 SubmittersRCV000460394 RCV000725560 RCV001330278

NM_013382.7(POMT2):c.1871G>A (p.Arg624Gln)

SNV
Germline

Chr14:77279843

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7285668

rs_369365744

5 SubmittersRCV000260226 RCV000692914 RCV002519164

NM_001267550.2(TTN):c.61962C>T (p.Ile20654=)

SNV
Germline

Chr2:178589763

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992289

rs_369710636

3 SubmittersRCV000275195 RCV001418359 RCV004992156

NM_001267550.2(TTN):c.732C>T (p.Ala244=)

SNV
Germline

Chr2:178799669

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006233

rs_761859812

7 SubmittersRCV000295315 RCV000725564 RCV001134419 RCV001134421 RCV001135889 RCV001134420 RCV001134422 RCV001506599 RCV002379130

NM_201384.3(PLEC):c.13479G>A (p.Ser4493=)

SNV
Germline

Chr8:143916342

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4923790

rs_781929758

6 SubmittersRCV000725567 RCV001084891

NM_201384.3(PLEC):c.6426C>T (p.Ala2142=)

SNV
Germline

Chr8:143923503

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA4925999

rs_200062782

7 SubmittersRCV000340729 RCV001082281 RCV004999225

NM_001077365.2(POMT1):c.345G>A (p.Ser115=)

SNV
Germline

Chr9:131507432

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Conflicting Classifications

CA5293240

rs_147212285

3 SubmittersRCV000365109 RCV000725576 RCV001370260

NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg)

SNV
Germline

Chr9:131513282

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
not specified
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293544

rs_146869947

5 SubmittersRCV000338793 RCV000376051 RCV000530614 RCV004535339

NM_001130987.2(DYSF):c.1407G>A (p.Thr469=)

SNV
Germline

Chr2:71535047

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705732

rs_150093305

4 SubmittersRCV000259934 RCV000725584 RCV001089239 RCV001274441

NM_013382.7(POMT2):c.295C>T (p.Arg99Cys)

SNV
Germline

Chr14:77311987

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Conflicting Classifications

CA10604988

rs_199719668

9 SubmittersRCV000285296 RCV000694010 RCV001778879 RCV002288961 RCV002503994 RCV003475906

NM_213599.3(ANO5):c.525C>G (p.Leu175=)

SNV
Germline

Chr11:22227463

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5922940

rs_143331003

2 SubmittersRCV000403505 RCV001083835

NM_001267550.2(TTN):c.82539C>T (p.Gly27513=)

SNV
Germline

Chr2:178563593

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989057

rs_775673876

4 SubmittersRCV000296965 RCV000703360 RCV002347998

NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met)

SNV
Germline

Chr2:71598667

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706663

rs_148858485

8 SubmittersRCV000725593 RCV001081328 RCV001272833

NM_213599.3(ANO5):c.276A>G (p.Lys92=)

SNV
Germline

Chr11:22221192

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5922852

rs_201678262

3 SubmittersRCV000321766 RCV000725595 RCV002059168

NM_058246.4(DNAJB6):c.510G>A (p.Gly170=)

SNV
Germline

Chr7:157384898

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA4590546

rs_548325183

2 SubmittersRCV000361175 RCV001471989

NM_001130987.2(DYSF):c.5424C>T (p.Pro1808=)

SNV
Germline

Chr2:71667482

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707358

rs_137855767

3 SubmittersRCV000289625 RCV001088815 RCV001274107

NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg)

SNV
Germline

Chr2:71513721

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705380

rs_200970855

6 SubmittersRCV000301411 RCV001082288 RCV001833344

NM_013382.7(POMT2):c.66C>T (p.Gly22=)

SNV
Germline

Chr14:77320616

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
POMT2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7286287

rs_200670377

5 SubmittersRCV000314138 RCV001084620 RCV003947889 RCV004999226

NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)

SNV
Germline

Chr2:71612701

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1706954

rs_769721856

6 SubmittersRCV000272470 RCV000984261 RCV001382219 RCV005025423 RCV005864467

NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr)

SNV
Germline

Chr1:46193580

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 76
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Inborn genetic diseases
Retinal dystrophy
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Conflicting Classifications

CA833537

rs_138745073

9 SubmittersRCV000324220 RCV000763934 RCV001855150 RCV002518961 RCV003888676 RCV005016672 RCV005411399

NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu)

SNV
Germline

Chr2:71570638

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1706435

rs_372880553

7 SubmittersRCV000310622 RCV000803161 RCV001833347 RCV003463758

NM_000070.3(CAPN3):c.1115+8A>G

SNV
Germline

Chr15:42394349

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511245

rs_760196248

2 SubmittersRCV000283230 RCV001078559

NM_000023.4(SGCA):c.402C>T (p.Tyr134=)

SNV
Germline

Chr17:50168390

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643796

rs_780264754

2 SubmittersRCV000342740 RCV001467551

NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro)

SNV
Germline

Chr9:116698209

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Sarcotubular myopathy
Bardet-Biedl syndrome 11
TRIM32-related disorder
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA5210987

rs_145907585

6 SubmittersRCV000408167 RCV001038537 RCV002494846 RCV003401251 RCV005418046

NM_201384.3(PLEC):c.8442C>T (p.Gly2814=)

SNV
Germline

Chr8:143921379

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4925310

rs_186703073

5 SubmittersRCV000299270 RCV001086490 RCV004543062 RCV005055824

NM_000231.3(SGCG):c.506-7T>G

SNV
Germline

Chr13:23295408

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA6909723

rs_774582375

5 SubmittersRCV000270133 RCV000725613 RCV001084343

NM_000232.5(SGCB):c.346A>G (p.Met116Val)

SNV
Germline

Chr4:52029761

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA2918434

rs_752168132

5 SubmittersRCV000407437 RCV002250615

NM_000337.6(SGCD):c.193-7A>G

SNV
Germline

Chr5:156508594

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Conflicting Classifications

CA3530535

rs_747018859

3 SubmittersRCV000330829 RCV001085895

NM_213599.3(ANO5):c.889G>T (p.Gly297Ter)

SNV
Germline

Chr11:22250247

Pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA10605076

rs_886043074

2 SubmittersRCV000339995 RCV006555775

NM_017739.4(POMGNT1):c.1050G>T (p.Leu350=)

SNV
Germline

Chr1:46193365

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA10605078

rs_886043076

2 SubmittersRCV000337960 RCV002059173

NM_012470.4(TNPO3):c.857G>A (p.Arg286His)

SNV
Germline

Chr7:129001074

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4478314

rs_140709222

4 SubmittersRCV000725631 RCV001080992

NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)

SNV
Germline

Chr11:22276177

Pathogenic/Likely pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA5923597

rs_142073798

11 SubmittersRCV000347528 RCV000645350 RCV000778320 RCV001729506 RCV002502129 RCV005355594

NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp)

SNV
Germline

Chr15:42410460

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10605085

rs_770894443

9 SubmittersRCV000412799 RCV000644995 RCV003475907 RCV005008247 RCV005600892

NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=)

SNV
Germline

Chr2:71660631

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707204

rs_142301132

6 SubmittersRCV000260045 RCV001088177 RCV001274850 RCV003940005

NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His)

SNV
Germline

Chr2:71644034

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1707060

rs_150139276

9 SubmittersRCV000530924 RCV000664797 RCV000725642 RCV003235177

NM_004393.6(DAG1):c.2082C>T (p.Asn694=)

SNV
Germline

Chr3:49532593

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA2399204

rs_146453412

3 SubmittersRCV000329373 RCV001084566

NM_017739.4(POMGNT1):c.1476C>A (p.Ile492=)

SNV
Germline

Chr1:46192161

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833356

rs_375432782

3 SubmittersRCV000295348 RCV001467579

NM_024301.5(FKRP):c.544T>C (p.Tyr182His)

SNV
Germline

Chr19:46755994

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9532163

rs_753390261

5 SubmittersRCV000324567 RCV000673996 RCV001859617 RCV002348000

NM_000337.6(SGCD):c.768G>A (p.Thr256=)

SNV
Germline

Chr5:156759285

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3530693

rs_376141942

4 SubmittersRCV000319690 RCV000541005 RCV002401990

NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys)

SNV
Germline

Chr15:42399607

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511316

rs_777483913

6 SubmittersRCV000345099 RCV000725670 RCV003463759

NM_213599.3(ANO5):c.369G>A (p.Ser123=)

SNV
Germline

Chr11:22227307

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases

Criteria Provided
Conflicting Classifications

CA5922917

rs_199888040

4 SubmittersRCV000310965 RCV001087647 RCV001103558

NM_001077365.2(POMT1):c.1749C>G (p.Leu583=)

SNV
Germline

Chr9:131521396

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
not specified

Criteria Provided
Conflicting Classifications

CA10605125

rs_755379319

3 SubmittersRCV000378776 RCV002519182 RCV005418047

NM_000070.3(CAPN3):c.1584C>T (p.Asn528=)

SNV
Germline

Chr15:42402841

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511440

rs_530529988

3 SubmittersRCV000301661 RCV001078683

NM_213599.3(ANO5):c.2256G>A (p.Thr752=)

SNV
Germline

Chr11:22274589

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3

Criteria Provided
Conflicting Classifications

CA5923512

rs_144048656

9 SubmittersRCV000380772 RCV000873224 RCV001079931 RCV001103647 RCV002259771 RCV002259770 RCV002259772

NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)

SNV
Germline

Chr15:42409972

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA7511709

rs_764370512

8 SubmittersRCV000327815 RCV000675154 RCV003463760

NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)

SNV
Germline

Chr15:42392694

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7511211

rs_749863676

10 SubmittersRCV000711012 RCV000544623 RCV005431594 RCV005801765

NM_000070.3(CAPN3):c.581C>T (p.Ser194Phe)

SNV
Germline

Chr15:42387835

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10605165

rs_886043143

2 SubmittersRCV000396191 RCV004764924

NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter)

SNV
Germline

Chr2:71612772

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10605167

rs_886043145

5 SubmittersRCV000556431 RCV000597200 RCV002494847 RCV003463761

NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln)

SNV
Germline

Chr2:178630922

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1995765

rs_369709751

4 SubmittersRCV000338270 RCV000725703 RCV000539417

NM_213599.3(ANO5):c.2012A>G (p.Tyr671Cys)

SNV
Germline

Chr11:22270425

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5923420

rs_764261431

3 SubmittersRCV000396502 RCV000699955 RCV006456937

NM_001077365.2(POMT1):c.2003+9G>A

SNV
Germline

Chr9:131522233

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA5293895

rs_368975092

3 SubmittersRCV000280643 RCV000725710 RCV001484682

NM_001077365.2(POMT1):c.122+5G>A

SNV
Germline

Chr9:131504345

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Conflicting Classifications

CA10605191

rs_376753193

3 SubmittersRCV000388581 RCV000648153 RCV005044534

NM_001130987.2(DYSF):c.5004-1G>A

SNV
Germline

Chr2:71664267

Pathogenic/Likely pathogenic

Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA10605197

rs_886043170

3 SubmittersRCV000367315 RCV005031860 RCV006462335

NM_000070.3(CAPN3):c.1442T>C (p.Leu481Pro)

SNV
Germline

Chr15:42401728

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10605202

rs_886043175

2 SubmittersRCV000271981 RCV003517170

NM_000070.3(CAPN3):c.351C>T (p.Asn117=)

SNV
Germline

Chr15:42384524

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7510923

rs_772886155

2 SubmittersRCV000363118 RCV001457345

NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)

SNV
Germline

Chr2:71667391

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
DYSF-related disorder
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1707338

rs_145272777

10 SubmittersRCV000374736 RCV000664874 RCV000778917 RCV001329706 RCV001563739 RCV003940011 RCV005355595

NM_012470.4(TNPO3):c.2079C>T (p.His693=)

SNV
Germline

Chr7:128975918

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4477969

rs_199826657

2 SubmittersRCV000355424 RCV001493425

NM_024301.5(FKRP):c.531G>A (p.Glu177=)

SNV
Germline

Chr19:46755981

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA9532159

rs_768007208

8 SubmittersRCV000725725 RCV001081894 RCV001828220 RCV002348001 RCV003330623

NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr)

SNV
Germline

Chr15:42410931

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511827

rs_886043191

7 SubmittersRCV000328442 RCV001859629 RCV003475909 RCV005008249

NM_000023.4(SGCA):c.623C>T (p.Thr208Ile)

SNV
Germline

Chr17:50169130

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
not specified

Criteria Provided
Conflicting Classifications

CA10605223

rs_886043193

3 SubmittersRCV000337361 RCV004567830 RCV004689703

NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser)

SNV
Germline

Chr2:71658902

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707143

rs_149768871

7 SubmittersRCV000306735 RCV001055238 RCV002519192 RCV001833354

NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter)

SNV
Germline

Chr11:22255403

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA5923181

rs_368970223

6 SubmittersRCV000366049 RCV000664066 RCV000691930 RCV003157505

NM_201384.3(PLEC):c.5301G>T (p.Leu1767=)

SNV
Germline

Chr8:143924628

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926391

rs_782513203

2 SubmittersRCV000394335 RCV001088562

NM_001077365.2(POMT1):c.1014C>T (p.His338=)

SNV
Germline

Chr9:131512068

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Conflicting Classifications

CA10605235

rs_886043203

2 SubmittersRCV000284032 RCV003765632

NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=)

SNV
Germline

Chr2:71664358

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707241

rs_149087116

5 SubmittersRCV000356086 RCV001081951 RCV001274103

NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)

SNV
Germline

Chr9:131509789

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Condition: not provided
Inborn genetic diseases
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293329

rs_199498900

7 SubmittersRCV000540929 RCV000712827 RCV002519193 RCV004543069

NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys)

SNV
Germline

Chr2:71539161

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Conflicting Classifications

CA1705795

rs_185119682

7 SubmittersRCV000335981 RCV000535143 RCV001274443 RCV002480026

NM_000070.3(CAPN3):c.2184G>A (p.Gln728=)

SNV
Germline

Chr15:42410496

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Melanoma

Criteria Provided
Conflicting Classifications

CA10605258

rs_886043220

5 SubmittersRCV000348271 RCV000795002 RCV003463762 RCV005008251 RCV005895727

NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)

SNV
Germline

Chr17:50168391

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA10605259

rs_886043221

5 SubmittersRCV000725732 RCV000403326

NM_000232.5(SGCB):c.345C>T (p.Asp115=)

SNV
Germline

Chr4:52029762

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA10605266

rs_886043228

2 SubmittersRCV000296586 RCV001494427

NM_000231.3(SGCG):c.832G>A (p.Gly278Ser)

SNV
Germline

Chr13:23324497

Conflicting classifications of pathogenicity

not specified
Sarcoglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA6909860

rs_147820869

6 SubmittersRCV000309697 RCV001094189 RCV000338071

NM_000023.4(SGCA):c.468C>T (p.Arg156=)

SNV
Germline

Chr17:50168456

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643808

rs_750297310

2 SubmittersRCV000320102 RCV002519196

NM_001267550.2(TTN):c.5739C>T (p.Thr1913=)

SNV
Germline

Chr2:178776125

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA10605295

rs_530291008

6 SubmittersRCV000259591 RCV001079023 RCV001526958 RCV002348002 RCV004535356

NM_004393.6(DAG1):c.1206C>T (p.Arg402=)

SNV
Germline

Chr3:49531717

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P

Criteria Provided
Conflicting Classifications

CA10605296

rs_886043253

2 SubmittersRCV000298440 RCV001486789

NM_001267550.2(TTN):c.19677A>C (p.Ala6559=)

SNV
Germline

Chr2:178728147

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2001365

rs_372654116

7 SubmittersRCV000273020 RCV001699281 RCV002059188

NM_000023.4(SGCA):c.764C>T (p.Pro255Leu)

SNV
Germline

Chr17:50170159

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
Sarcoglycanopathy

Criteria Provided
Conflicting Classifications

CA8643912

rs_138019537

5 SubmittersRCV000325767 RCV000354282 RCV001094493

NM_013382.7(POMT2):c.1620G>A (p.Glu540=)

SNV
Germline

Chr14:77283830

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA10605301

rs_886043258

2 SubmittersRCV000295320 RCV003765634

NM_000232.5(SGCB):c.496A>G (p.Ile166Val)

SNV
Germline

Chr4:52028855

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2E
Condition: not provided
Qualitative or quantitative defects of beta-sarcoglycan
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2918377

rs_138877636

12 SubmittersRCV000286709 RCV000696139 RCV000725755 RCV001148509 RCV002519200

NM_000023.4(SGCA):c.586G>A (p.Val196Ile)

SNV
Germline

Chr17:50169093

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA10605322

rs_752695991

3 SubmittersRCV000388314 RCV003509524

NM_001130987.2(DYSF):c.4756-3C>T

SNV
Germline

Chr2:71658875

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707142

rs_371227553

7 SubmittersRCV000334866 RCV000529091 RCV001083939 RCV001833355 RCV003947911

NM_001267550.2(TTN):c.104081C>G (p.Ser34694Ter)

SNV
Germline

Chr2:178532534

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10605328

rs_886043279

2 SubmittersRCV000278562 RCV003765635

NM_000070.3(CAPN3):c.648C>T (p.Tyr216=)

SNV
Germline

Chr15:42388943

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511091

rs_138846390

3 SubmittersRCV000284435 RCV001487950

NM_004393.6(DAG1):c.372T>G (p.Thr124=)

SNV
Germline

Chr3:49530883

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P

Criteria Provided
Conflicting Classifications

CA2398891

rs_555051245

2 SubmittersRCV000261770 RCV002059190

NM_000023.4(SGCA):c.34G>A (p.Val12Met)

SNV
Germline

Chr17:50166074

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643645

rs_766209304

5 SubmittersRCV000294427 RCV001044076

NM_201384.3(PLEC):c.12216C>T (p.Phe4072=)

SNV
Germline

Chr8:143917605

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924149

rs_150427959

5 SubmittersRCV000725766 RCV001088375 RCV004737415

NM_213599.3(ANO5):c.1103C>T (p.Thr368Met)

SNV
Germline

Chr11:22250830

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA5923127

rs_760792371

6 SubmittersRCV000355856 RCV002521946 RCV005044536 RCV005409646 RCV005418048

NM_000023.4(SGCA):c.197T>A (p.Leu66His)

SNV
Germline

Chr17:50167621

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA501057

rs_767928766

5 SubmittersRCV000384383 RCV003137892

NM_001101426.4(CRPPA):c.52C>T (p.Leu18=)

SNV
Germline

Chr7:16421271

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Conflicting Classifications

CA10605338

rs_886043287

3 SubmittersRCV000392475 RCV000725773 RCV002229844

NM_201384.3(PLEC):c.2458-7G>A

SNV
Germline

Chr8:143930305

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927507

rs_372799330

5 SubmittersRCV000304342 RCV000725774 RCV001083481

NM_201384.3(PLEC):c.11418C>T (p.Thr3806=)

SNV
Germline

Chr8:143918403

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA4924357

rs_559510708

3 SubmittersRCV000363730 RCV001087000 RCV001288675

NM_058246.4(DNAJB6):c.410C>T (p.Thr137Met)

SNV
Germline

Chr7:157382309

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA4590509

rs_149027078

3 SubmittersRCV000330343 RCV001046298

NM_000070.3(CAPN3):c.183C>T (p.Phe61=)

SNV
Germline

Chr15:42359988

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA7510870

rs_146069933

3 SubmittersRCV000283954 RCV001088907 RCV004543074

NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)

SNV
Germline

Chr17:50168397

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA501039

rs_372210292

10 SubmittersRCV000341255 RCV000725776

NM_001077365.2(POMT1):c.846C>T (p.Ala282=)

SNV
Germline

Chr9:131510406

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Conflicting Classifications

CA10605359

rs_886043307

2 SubmittersRCV000298509 RCV001081730

NM_201384.3(PLEC):c.4410G>A (p.Gly1470=)

SNV
Germline

Chr8:143925519

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926670

rs_782222671

5 SubmittersRCV000287855 RCV001083384 RCV001197632 RCV004535360

NM_012470.4(TNPO3):c.2599-6A>G

SNV
Germline

Chr7:128967398

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F
TNPO3-related disorder

Criteria Provided
Conflicting Classifications

CA4477827

rs_374776250

3 SubmittersRCV000401291 RCV000544659 RCV004754371

NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)

SNV
Germline

Chr2:71667477

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1707356

rs_746243052

14 SubmittersRCV000294536 RCV000725796 RCV000817667 RCV003469237 RCV005025425 RCV003114448

NM_001101426.4(CRPPA):c.972C>A (p.Gly324=)

SNV
Germline

Chr7:16258974

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Conflicting Classifications

CA4169434

rs_370052768

2 SubmittersRCV000303129 RCV002229846

NM_013382.7(POMT2):c.321G>A (p.Pro107=)

SNV
Germline

Chr14:77311961

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA10605386

rs_756802962

2 SubmittersRCV000368923 RCV002059195

NM_000337.6(SGCD):c.543T>G (p.Pro181=)

SNV
Germline

Chr5:156647504

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2F
Inborn genetic diseases
SGCD-related disorder

Criteria Provided
Conflicting Classifications

CA3530625

rs_200451694

6 SubmittersRCV000282516 RCV000725804 RCV001080862 RCV002348005 RCV003967752

NM_000070.3(CAPN3):c.1673C>T (p.Pro558Leu)

SNV
Germline

Chr15:42402930

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10605389

rs_546820887

5 SubmittersRCV000335232 RCV001859642

NM_213599.3(ANO5):c.749A>G (p.Tyr250Cys)

SNV
Germline

Chr11:22236263

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
not specified

Criteria Provided
Conflicting Classifications

CA5923010

rs_781734224

6 SubmittersRCV000364651 RCV000663412 RCV000792580 RCV004689704

NM_001101426.4(CRPPA):c.934-5A>G

SNV
Germline

Chr7:16259017

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Conflicting Classifications

CA10605396

rs_886043337

2 SubmittersRCV000336082 RCV001089086

NM_001267550.2(TTN):c.53185C>T (p.Leu17729=)

SNV
Germline

Chr2:178607503

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993845

rs_767559716

4 SubmittersRCV000349965 RCV001421943 RCV004021196 RCV005238844

NM_000070.3(CAPN3):c.526G>T (p.Val176Leu)

SNV
Germline

Chr15:42387780

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511051

rs_774114705

2 SubmittersRCV000333949 RCV003631108

NM_001267550.2(TTN):c.48612C>T (p.Ala16204=)

SNV
Germline

Chr2:178615333

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10605401

rs_886043341

2 SubmittersRCV000397849 RCV002519215

NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp)

SNV
Germline

Chr15:42408252

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511573

rs_201607149

4 SubmittersRCV000339965 RCV000408139

NM_000232.5(SGCB):c.543C>T (p.Ser181=)

SNV
Germline

Chr4:52028808

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA2918368

rs_757115090

2 SubmittersRCV000299109 RCV001451120

NM_000231.3(SGCG):c.564G>A (p.Pro188=)

SNV
Germline

Chr13:23295473

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA6909738

rs_367595212

2 SubmittersRCV000325089 RCV001435379

NM_000070.3(CAPN3):c.1030-7G>A

SNV
Germline

Chr15:42394249

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10605405

rs_886043344

2 SubmittersRCV000285940 RCV001479502

NM_001267550.2(TTN):c.105852C>G (p.Ala35284=)

SNV
Germline

Chr2:178530763

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985196

rs_776786546

3 SubmittersRCV000263648 RCV001470583 RCV002411156

NM_201384.3(PLEC):c.390C>T (p.Pro130=)

SNV
Germline

Chr8:143937024

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4928462

rs_782187697

2 SubmittersRCV000319055 RCV002519218

NM_013382.7(POMT2):c.1396C>A (p.Arg466=)

SNV
Germline

Chr14:77285569

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA10605420

rs_763119319

2 SubmittersRCV000340279 RCV003765640

NM_058246.4(DNAJB6):c.602G>A (p.Arg201Lys)

SNV
Germline

Chr7:157384990

Conflicting classifications of pathogenicity

not specified
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Condition: not provided
Inborn genetic diseases
Muscular dystrophy, limb-girdle, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4590563

rs_373070679

6 SubmittersRCV000399250 RCV000648069 RCV001564257 RCV003298342 RCV005355597

NM_201384.3(PLEC):c.4392C>T (p.Thr1464=)

SNV
Germline

Chr8:143925537

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926677

rs_372029672

2 SubmittersRCV000367453 RCV001078941

NM_000231.3(SGCG):c.385G>A (p.Gly129Ser)

SNV
Germline

Chr13:23250717

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C
not specified

Criteria Provided
Conflicting Classifications

CA6909660

rs_747046381

5 SubmittersRCV000327552 RCV003137894 RCV003230471

NM_000023.4(SGCA):c.747+1G>A

SNV
Germline

Chr17:50169255

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA10605463

rs_886043392

4 SubmittersRCV000301700 RCV001378409

NM_004393.6(DAG1):c.1695C>T (p.Pro565=)

SNV
Germline

Chr3:49532206

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA2399121

rs_773066265

2 SubmittersRCV000332348 RCV001446984

NM_001130987.2(DYSF):c.4148C>T (p.Thr1383Met)

SNV
Germline

Chr2:71611553

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706904

rs_149182447

4 SubmittersRCV000331066 RCV000820404 RCV001828229 RCV005821677

NM_001267550.2(TTN):c.43748-7C>T

SNV
Germline

Chr2:178631307

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1995807

rs_771927358

3 SubmittersRCV000339520 RCV000725842 RCV001403646

NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)

SNV
Germline

Chr11:22262162

Conflicting classifications of pathogenicity

Myopathy
Condition: not provided
Fatty replacement of skeletal muscle
Distal muscle weakness
Elevated circulating creatine kinase concentration
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Muscular dystrophy
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5923318

rs_375014127

13 SubmittersRCV000414780 RCV000498271 RCV000627020 RCV001068054 RCV001198354 RCV001808736 RCV002288963 RCV004017585 RCV005044538 RCV005416272 RCV006249374

NM_001130987.2(DYSF):c.1944G>T (p.Pro648=)

SNV
Germline

Chr2:71553148

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705986

rs_115849497

4 SubmittersRCV000382853 RCV000725847 RCV001078656 RCV001271783

NM_012470.4(TNPO3):c.1810A>G (p.Ile604Val)

SNV
Germline

Chr7:128982297

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA10605476

rs_886043402

4 SubmittersRCV000312736 RCV001064006

NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly)

SNV
Germline

Chr15:42401763

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
not specified

Criteria Provided
Conflicting Classifications

CA10605479

rs_557164942

6 SubmittersRCV000267747 RCV000669446 RCV002494858 RCV003463765 RCV006456941

NM_001267550.2(TTN):c.18468C>T (p.Phe6156=)

SNV
Germline

Chr2:178729785

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10605482

rs_886043405

2 SubmittersRCV000374274 RCV002519234

NM_001267550.2(TTN):c.16159A>C (p.Arg5387=)

SNV
Germline

Chr2:178733017

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA2002079

rs_371501460

5 SubmittersRCV000282104 RCV001170652 RCV001399638 RCV004701381

NM_017739.4(POMGNT1):c.396T>C (p.His132=)

SNV
Germline

Chr1:46196036

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA10605486

rs_886043409

2 SubmittersRCV000303433 RCV001434684

NM_201384.3(PLEC):c.4089C>T (p.Ala1363=)

SNV
Germline

Chr8:143925840

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA10605512

rs_886044855

2 SubmittersRCV000260762 RCV003765643

NM_201384.3(PLEC):c.11355C>T (p.Ala3785=)

SNV
Germline

Chr8:143918466

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA10605514

rs_886044856

2 SubmittersRCV000286763 RCV001089290

NM_004393.6(DAG1):c.2326C>T (p.Arg776Cys)

SNV
Germline

Chr3:49532837

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P
not specified

Criteria Provided
Conflicting Classifications

CA2399247

rs_752441031

4 SubmittersRCV000393636 RCV000807544 RCV003387825

NM_000070.3(CAPN3):c.1524G>A (p.Glu508=)

SNV
Germline

Chr15:42401810

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Reviewed By Expert Panel

CA10605515

rs_886043432

7 SubmittersRCV000313599 RCV001249768 RCV001196491 RCV004999233 RCV005008255

NM_001267550.2(TTN):c.104640G>A (p.Glu34880=)

SNV
Germline

Chr2:178531975

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985388

rs_373134178

4 SubmittersRCV000725866 RCV001084855 RCV002401995

NM_001267550.2(TTN):c.22027C>T (p.Gln7343Ter)

SNV
Germline

Chr2:178722872

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10605518

rs_886043434

2 SubmittersRCV000288802 RCV001300749

NM_000070.3(CAPN3):c.367C>A (p.Gln123Lys)

SNV
Germline

Chr15:42384540

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10605522

rs_886043437

3 SubmittersRCV000391985 RCV000534527 RCV005355600

NM_058246.4(DNAJB6):c.459A>C (p.Gly153=)

SNV
Germline

Chr7:157382358

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA4590520

rs_765102730

2 SubmittersRCV000320422 RCV001397087

NM_201384.3(PLEC):c.4728G>A (p.Ala1576=)

SNV
Germline

Chr8:143925201

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926555

rs_545266312

2 SubmittersRCV000314896 RCV001078987

NM_001267550.2(TTN):c.66174C>T (p.Arg22058=)

SNV
Germline

Chr2:178582195

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10605550

rs_886043463

2 SubmittersRCV000274801 RCV005222871

NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)

SNV
Germline

Chr2:71570688

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1706454

rs_144598063

12 SubmittersRCV000361984 RCV000665677 RCV000693473 RCV003401254 RCV005025426

NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)

SNV
Germline

Chr9:131510407

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Conflicting Classifications

CA5293451

rs_747506380

8 SubmittersRCV000712829 RCV004021212 RCV000764805 RCV001041917 RCV003454804

NM_001267550.2(TTN):c.105090C>T (p.Asp35030=)

SNV
Germline

Chr2:178531525

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1985309

rs_72629789

9 SubmittersRCV000725920 RCV001085722 RCV001798773 RCV002411159 RCV004535376 RCV006268711

NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg)

SNV
Germline

Chr2:71513790

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705397

rs_143562525

6 SubmittersRCV000342489 RCV000793369 RCV001273965

NM_004393.6(DAG1):c.294G>A (p.Ala98=)

SNV
Germline

Chr3:49530805

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Cervical cancer

Criteria Provided
Conflicting Classifications

CA2398883

rs_752506833

3 SubmittersRCV000369485 RCV001078727 RCV005895762

NM_001267550.2(TTN):c.105757G>A (p.Val35253Met)

SNV
Germline

Chr2:178530858

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985216

rs_373655492

8 SubmittersRCV000266472 RCV000267874 RCV000306527 RCV000303178 RCV000338409 RCV000360232 RCV000642963 RCV002411161

NM_201384.3(PLEC):c.10869C>T (p.Ile3623=)

SNV
Germline

Chr8:143918952

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924511

rs_371565831

2 SubmittersRCV000357961 RCV001081411

NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val)

SNV
Germline

Chr8:143923681

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926068

rs_781878105

11 SubmittersRCV000352378 RCV000725974 RCV001079892 RCV001331245 RCV004737420

NM_004393.6(DAG1):c.1212G>A (p.Thr404=)

SNV
Germline

Chr3:49531723

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA2399034

rs_139781017

3 SubmittersRCV000725989 RCV001087202

NM_001267550.2(TTN):c.97908G>A (p.Leu32636=)

SNV
Germline

Chr2:178540258

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10605743

rs_767660102

2 SubmittersRCV000292537 RCV006555785

NM_001130987.2(DYSF):c.2148G>A (p.Ala716=)

SNV
Germline

Chr2:71556003

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706066

rs_201239189

4 SubmittersRCV000392895 RCV001088299 RCV001563802 RCV001563803 RCV001271786

NM_201384.3(PLEC):c.1283C>T (p.Ala428Val)

SNV
Germline

Chr8:143933332

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928029

rs_200893203

4 SubmittersRCV000263573 RCV001088725 RCV004543102

NM_201384.3(PLEC):c.13470C>T (p.Arg4490=)

SNV
Germline

Chr8:143916351

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4923796

rs_531535217

3 SubmittersRCV000368664 RCV003103754 RCV004543103

NM_017739.4(POMGNT1):c.1536T>C (p.Phe512=)

SNV
Germline

Chr1:46192101

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA833341

rs_367596859

2 SubmittersRCV000378371 RCV001417068

NM_201384.3(PLEC):c.13023G>A (p.Val4341=)

SNV
Germline

Chr8:143916798

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4923922

rs_567904252

3 SubmittersRCV000349485 RCV001398369

NM_004393.6(DAG1):c.804G>A (p.Gln268=)

SNV
Germline

Chr3:49531315

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P

Criteria Provided
Conflicting Classifications

CA2398963

rs_201713621

2 SubmittersRCV000336322 RCV001496228

NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)

SNV
Germline

Chr15:42360037

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7510874

rs_138867099

7 SubmittersRCV000408097 RCV001086033

NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=)

SNV
Germline

Chr2:178534054

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1985735

rs_375625664

10 SubmittersRCV000313155 RCV000726013 RCV001086233 RCV001798774 RCV002392808 RCV004535384

NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys)

SNV
Germline

Chr2:71574312

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706529

rs_147483765

4 SubmittersRCV000383544 RCV001085324 RCV001276442

NM_001267550.2(TTN):c.103053C>T (p.Thr34351=)

SNV
Germline

Chr2:178533562

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985663

rs_3731753

8 SubmittersRCV000287646 RCV000305887 RCV000345009 RCV000356141 RCV000384295 RCV000403994 RCV000470403 RCV000621799 RCV001531498

NM_001267550.2(TTN):c.54190+1G>A

SNV
Germline

Chr2:178604986

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1993679

rs_756339648

5 SubmittersRCV000292374 RCV001047350 RCV002509352 RCV005298475

NM_001267550.2(TTN):c.94533C>A (p.Gly31511=)

SNV
Germline

Chr2:178546895

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987104

rs_755850773

3 SubmittersRCV000301018 RCV001448280 RCV005761996

NM_001267550.2(TTN):c.15345T>A (p.Ile5115=)

SNV
Germline

Chr2:178734479

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10605830

rs_878891236

2 SubmittersRCV000310448 RCV001434865

NM_001267550.2(TTN):c.69045G>A (p.Ala23015=)

SNV
Germline

Chr2:178577290

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990998

rs_759122929

3 SubmittersRCV000389875 RCV001398737 RCV004678663

NM_001267550.2(TTN):c.99582G>A (p.Pro33194=)

SNV
Germline

Chr2:178537625

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1986167

rs_777730098

5 SubmittersRCV000301709 RCV001085923 RCV003165754 RCV004535392

NM_201384.3(PLEC):c.8316C>T (p.Arg2772=)

SNV
Germline

Chr8:143921505

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925362

rs_782420340

4 SubmittersRCV000272326 RCV000726057 RCV001088535

NM_000070.3(CAPN3):c.802-10C>T

SNV
Germline

Chr15:42389943

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10605847

rs_747895099

3 SubmittersRCV000288147 RCV001446184

NM_001267550.2(TTN):c.17082G>T (p.Leu5694=)

SNV
Germline

Chr2:178731793

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2001918

rs_750996600

4 SubmittersRCV000726067 RCV001088461

NM_001130987.2(DYSF):c.990C>T (p.Leu330=)

SNV
Germline

Chr2:71517027

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705539

rs_140809078

4 SubmittersRCV000726069 RCV001086161 RCV001833377

NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)

SNV
Germline

Chr2:71681053

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Primary dilated cardiomyopathy
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707599

rs_115407852

14 SubmittersRCV000356385 RCV000487973 RCV000675073 RCV001085395 RCV001449928 RCV003448906 RCV004549599

NM_001130987.2(DYSF):c.1039G>A (p.Ala347Thr)

SNV
Germline

Chr2:71520794

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705596

rs_745746091

4 SubmittersRCV000329171 RCV001247468 RCV001833378

NM_000070.3(CAPN3):c.1801-1G>A

SNV
Germline

Chr15:42408210

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Malignant lymphoma, large B-cell, diffuse
Malignant tumor of esophagus

Criteria Provided
Multiple Submitters
No Conflicts

CA10605901

rs_886043752

5 SubmittersRCV000310673 RCV000726084 RCV003475915 RCV005895788 RCV005895787

NM_201384.3(PLEC):c.6249G>A (p.Ala2083=)

SNV
Germline

Chr8:143923680

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926067

rs_377026986

2 SubmittersRCV000405308 RCV001089059

NM_000232.5(SGCB):c.498C>T (p.Ile166=)

SNV
Germline

Chr4:52028853

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA2918376

rs_748602445

3 SubmittersRCV000335937 RCV001276219

NM_201384.3(PLEC):c.1737+9C>T

SNV
Germline

Chr8:143932784

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927885

rs_371976170

2 SubmittersRCV000309859 RCV000648634

NM_000070.3(CAPN3):c.1686G>A (p.Glu562=)

SNV
Germline

Chr15:42402943

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511465

rs_569866483

2 SubmittersRCV000361396 RCV001426524

NM_001101426.4(CRPPA):c.258-1G>C

SNV
Germline

Chr7:16406338

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Multiple Submitters
No Conflicts

CA4169641

rs_767978961

2 SubmittersRCV000330073 RCV000548174

NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp)

SNV
Germline

Chr2:71526325

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
not specified

Criteria Provided
Conflicting Classifications

CA1705660

rs_527435707

8 SubmittersRCV000726094 RCV001139795 RCV001833380 RCV003155152

NM_001267550.2(TTN):c.227G>C (p.Gly76Ala)

SNV
Germline

Chr2:178802206

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA2006387

rs_138750421

7 SubmittersRCV000325596 RCV000621535 RCV001137831 RCV001137832 RCV001137833 RCV001137834 RCV001137835

NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu)

SNV
Germline

Chr2:178715754

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2000162

rs_201945791

6 SubmittersRCV000382422 RCV001131908 RCV001131909 RCV001131910 RCV001131911 RCV001129214

NM_000023.4(SGCA):c.408C>T (p.Ala136=)

SNV
Germline

Chr17:50168396

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
SGCA-related disorder

Criteria Provided
Conflicting Classifications

CA8643797

rs_143551687

6 SubmittersRCV000347845 RCV001426063 RCV003920133

NM_001267550.2(TTN):c.20814C>T (p.Asn6938=)

SNV
Germline

Chr2:178725390

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10605929

rs_886043772

2 SubmittersRCV000259667 RCV003765653

NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val)

SNV
Germline

Chr2:71561937

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi myopathy
Distal myopathy with anterior tibial onset
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706139

rs_147139414

6 SubmittersRCV000385438 RCV000525552 RCV001535516

NM_001267550.2(TTN):c.50865A>T (p.Pro16955=)

SNV
Germline

Chr2:178611264

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1994285

rs_754038742

2 SubmittersRCV000320899 RCV001417332

NM_001267550.2(TTN):c.69984G>A (p.Ala23328=)

SNV
Germline

Chr2:178576148

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990851

rs_56052239

7 SubmittersRCV000295432 RCV000726115 RCV002059232 RCV002328786

NM_001130987.2(DYSF):c.4911G>A (p.Lys1637=)

SNV
Germline

Chr2:71659033

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707168

rs_141704244

6 SubmittersRCV000387010 RCV001241552 RCV001828247

NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His)

SNV
Germline

Chr1:46192183

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA833367

rs_544816408

7 SubmittersRCV000407481 RCV000559267 RCV001277250 RCV004816507

NM_000232.5(SGCB):c.9A>G (p.Ala3=)

SNV
Germline

Chr4:52038251

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA10605972

rs_886043810

2 SubmittersRCV000308444 RCV002518014

NM_001130987.2(DYSF):c.1149+4A>G

SNV
Germline

Chr2:71520908

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1705618

rs_761302882

4 SubmittersRCV000311787 RCV001855200 RCV005409647 RCV005864470

NM_001101426.4(CRPPA):c.123G>C (p.Gly41=)

SNV
Germline

Chr7:16421200

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Conflicting Classifications

CA4169657

rs_761842188

3 SubmittersRCV000726129 RCV001088686

NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg)

SNV
Germline

Chr2:71520871

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10605994

rs_766891289

7 SubmittersRCV000336319 RCV001067684 RCV001823131 RCV005409648 RCV004800374

NM_001077365.2(POMT1):c.2067C>T (p.His689=)

SNV
Germline

Chr9:131522995

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Conflicting Classifications

CA5293926

rs_141895982

2 SubmittersRCV000341250 RCV000648171

NM_012470.4(TNPO3):c.1851G>T (p.Val617=)

SNV
Germline

Chr7:128982256

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4478047

rs_775746067

2 SubmittersRCV000306426 RCV001417526

NM_000232.5(SGCB):c.369T>C (p.Tyr123=)

SNV
Germline

Chr4:52029738

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA2918428

rs_371706268

2 SubmittersRCV000388855 RCV001081629

NM_213599.3(ANO5):c.921T>C (p.Leu307=)

SNV
Germline

Chr11:22250279

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5923075

rs_755092814

2 SubmittersRCV000349490 RCV002518029

NM_001077365.2(POMT1):c.1200C>T (p.Ser400=)

SNV
Germline

Chr9:131515450

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA10606029

rs_886043851

2 SubmittersRCV000360608 RCV003765654

NM_000232.5(SGCB):c.495C>T (p.Asp165=)

SNV
Germline

Chr4:52028856

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E
Qualitative or quantitative defects of beta-sarcoglycan

Criteria Provided
Conflicting Classifications

CA2918378

rs_142801720

8 SubmittersRCV000357210 RCV001083930 RCV001148510

NM_001130987.2(DYSF):c.2370G>A (p.Ala790=)

SNV
Germline

Chr2:71561905

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA10606035

rs_553605812

4 SubmittersRCV000726140 RCV001271791 RCV000384090 RCV001396652

NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)

SNV
Germline

Chr6:152330233

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
not specified
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4056002

rs_142422990

9 SubmittersRCV000264553 RCV000312820 RCV000360305 RCV001087844 RCV002254920 RCV005625515

NM_001101426.4(CRPPA):c.948A>G (p.Thr316=)

SNV
Germline

Chr7:16258998

Conflicting classifications of pathogenicity

Condition: not provided
Congenital Muscular Dystrophy, alpha-dystroglycan related
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Conflicting Classifications

CA4169435

rs_780620823

3 SubmittersRCV000260764 RCV001164710 RCV002229851

NM_004369.4(COL6A3):c.7114G>A (p.Asp2372Asn)

SNV
Germline

Chr2:237345192

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA2187923

rs_142002241

5 SubmittersRCV000291486 RCV000653586 RCV005625516

NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys)

SNV
Germline

Chr15:42388944

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7511092

rs_773001194

7 SubmittersRCV000323826 RCV001068856 RCV003463771 RCV006452571

NM_000337.6(SGCD):c.270C>T (p.Tyr90=)

SNV
Germline

Chr5:156508678

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3530546

rs_749273088

4 SubmittersRCV000294463 RCV001082019 RCV004021252

NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)

SNV
Germline

Chr2:71520904

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1705617

rs_199955501

9 SubmittersRCV000402278 RCV000726161 RCV000665200 RCV001080526 RCV001449952 RCV003897632

NM_000070.3(CAPN3):c.1355-1G>C

SNV
Germline

Chr15:42401640

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7511340

rs_747557404

6 SubmittersRCV000596715 RCV001072038 RCV003463772 RCV004701388

NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)

SNV
Germline

Chr2:71553119

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10606091

rs_886043900

8 SubmittersRCV000597376 RCV000726165 RCV001214514 RCV003469244 RCV005600893

NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)

SNV
Germline

Chr2:178530861

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA10606117

rs_886043924

7 SubmittersRCV000432472 RCV002519305 RCV003165761 RCV004017589 RCV005051771

NM_213599.3(ANO5):c.1031C>G (p.Pro344Arg)

SNV
Germline

Chr11:22250758

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5923113

rs_541372136

4 SubmittersRCV000266534 RCV001088728

NM_001267550.2(TTN):c.56943G>A (p.Ala18981=)

SNV
Germline

Chr2:178598767

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993152

rs_370998052

5 SubmittersRCV000260611 RCV001083781 RCV001135238 RCV001135235 RCV001135236 RCV001135237 RCV001130202 RCV002436123

NM_001267550.2(TTN):c.28785C>T (p.His9595=)

SNV
Germline

Chr2:178707782

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10606120

rs_773200956

2 SubmittersRCV000374874 RCV003765658

NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser)

SNV
Germline

Chr2:71659026

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707164

rs_772664716

6 SubmittersRCV000647992 RCV000726189 RCV001271547

NM_000023.4(SGCA):c.541C>A (p.Arg181Ser)

SNV
Germline

Chr17:50168529

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643819

rs_574376340

4 SubmittersRCV000486077 RCV000675090

NM_017739.4(POMGNT1):c.266G>A (p.Arg89Gln)

SNV
Germline

Chr1:46196819

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA833805

rs_200042607

4 SubmittersRCV000292083 RCV001057584 RCV001272276 RCV002521993

NM_001077365.2(POMT1):c.2058C>T (p.Ser686=)

SNV
Germline

Chr9:131522986

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Conflicting Classifications

CA10606149

rs_886043948

2 SubmittersRCV000352633 RCV001087544

NM_058246.4(DNAJB6):c.891C>T (p.Ser297=)

SNV
Germline

Chr7:157409994

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA10606153

rs_886043951

2 SubmittersRCV000289040 RCV001859682

NM_001130987.2(DYSF):c.4321C>T (p.Arg1441Cys)

SNV
Germline

Chr2:71612740

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706966

rs_377706756

5 SubmittersRCV000358891 RCV001140902 RCV001833383

NM_017739.4(POMGNT1):c.1923A>C (p.Pro641=)

SNV
Germline

Chr1:46189330

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA10606162

rs_886043958

2 SubmittersRCV000362367 RCV001085021

NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)

SNV
Germline

Chr2:71664407

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1707253

rs_141137410

10 SubmittersRCV000388999 RCV000493108 RCV000986770 RCV001079670 RCV001526431

NM_001130987.2(DYSF):c.2865-2A>C

SNV
Germline

Chr2:71569818

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10606168

rs_886043964

5 SubmittersRCV000368085 RCV000594701 RCV003574727 RCV004999238

NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter)

SNV
Germline

Chr2:71669608

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10606170

rs_886043966

5 SubmittersRCV000371436 RCV003574728 RCV003469245 RCV004999239

NM_013382.7(POMT2):c.795C>T (p.Phe265=)

SNV
Germline

Chr14:77301111

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA7286091

rs_765276419

2 SubmittersRCV000340387 RCV002518049

NM_013382.7(POMT2):c.1290C>T (p.Ala430=)

SNV
Germline

Chr14:77286786

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA10606180

rs_886043974

2 SubmittersRCV000350790 RCV003765660

NM_001267550.2(TTN):c.7524T>C (p.His2508=)

SNV
Germline

Chr2:178773532

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004797

rs_2291307

6 SubmittersRCV000726199 RCV001131076 RCV001131078 RCV001131075 RCV001130366 RCV001131077 RCV001437139 RCV002222478 RCV002379145

NM_021971.4(GMPPB):c.1048G>A (p.Gly350Ser)

SNV
Germline

Chr3:49721787

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB-related disorder

Criteria Provided
Conflicting Classifications

CA2405359

rs_184127567

4 SubmittersRCV000726214 RCV001081525 RCV003930156

NM_001267550.2(TTN):c.27592C>G (p.Gln9198Glu)

SNV
Germline

Chr2:178712330

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1999779

rs_72648995

5 SubmittersRCV000386127 RCV000533698

NM_013382.7(POMT2):c.825G>A (p.Val275=)

SNV
Germline

Chr14:77299553

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA10606209

rs_779272258

2 SubmittersRCV000294161 RCV000797190

NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe)

SNV
Germline

Chr2:178620850

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1995375

rs_72677226

6 SubmittersRCV000555954 RCV000726219 RCV005418053

NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter)

SNV
Germline

Chr2:178617456

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA10606226

rs_886044009

2 SubmittersRCV000393926 RCV000704790

NM_001101426.4(CRPPA):c.360C>T (p.Val120=)

SNV
Germline

Chr7:16406235

Conflicting classifications of pathogenicity

Congenital Muscular Dystrophy, alpha-dystroglycan related
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4169625

rs_183141256

4 SubmittersRCV000285781 RCV000316509 RCV000650393 RCV001565228

NM_001130987.2(DYSF):c.5150G>A (p.Cys1717Tyr)

SNV
Germline

Chr2:71664414

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA10606239

rs_753279446

3 SubmittersRCV000370944 RCV002518057 RCV005025437

NM_004393.6(DAG1):c.1719C>T (p.His573=)

SNV
Germline

Chr3:49532230

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA2399130

rs_146157416

3 SubmittersRCV000276518 RCV000726227 RCV001478563

NM_213599.3(ANO5):c.1639C>T (p.Arg547Ter)

SNV
Germline

Chr11:22262137

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA5923315

rs_747719953

3 SubmittersRCV000331633 RCV000726228 RCV001390092

NM_004393.6(DAG1):c.2313C>T (p.Ala771=)

SNV
Germline

Chr3:49532824

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA2399243

rs_764289801

2 SubmittersRCV000284282 RCV001088156

NM_213599.3(ANO5):c.1538C>T (p.Thr513Ile)

SNV
Germline

Chr11:22259649

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10606250

rs_281865467

4 SubmittersRCV000553314 RCV000487292

NM_001130987.2(DYSF):c.3520T>C (p.Cys1174Arg)

SNV
Germline

Chr2:71590234

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10606251

rs_886044028

2 SubmittersRCV000352655 RCV006445654

NM_001077365.2(POMT1):c.1933C>T (p.Leu645=)

SNV
Germline

Chr9:131522154

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA10606256

rs_750972624

2 SubmittersRCV000317771 RCV005222874

NM_058246.4(DNAJB6):c.706G>A (p.Asp236Asn)

SNV
Germline

Chr7:157409809

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
not specified

Criteria Provided
Conflicting Classifications

CA4590636

rs_556999563

3 SubmittersRCV000347935 RCV001078487 RCV004999240

NM_013382.7(POMT2):c.1824C>T (p.Tyr608=)

SNV
Germline

Chr14:77279890

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA7285675

rs_759220971

2 SubmittersRCV000384630 RCV001460392

NM_000023.4(SGCA):c.132G>A (p.Thr44=)

SNV
Germline

Chr17:50167462

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA10606260

rs_886044035

3 SubmittersRCV000268752 RCV001454241

NM_003673.4(TCAP):c.313G>A (p.Glu105Lys)

SNV
Germline

Chr17:39665918

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy 25
Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 25
Autosomal recessive limb-girdle muscular dystrophy type 2G
Hypertrophic cardiomyopathy 25
Autosomal recessive limb-girdle muscular dystrophy type 2G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA8532896

rs_146906267

9 SubmittersRCV000262261 RCV000554666 RCV001128396 RCV001128397 RCV002494882 RCV003338508 RCV003330626

NM_024301.5(FKRP):c.54T>A (p.Leu18=)

SNV
Germline

Chr19:46755504

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype
FKRP-related disorder

Criteria Provided
Conflicting Classifications

CA9532101

rs_565563742

6 SubmittersRCV000319756 RCV001085217 RCV001828260 RCV002348018 RCV004535418

NM_000070.3(CAPN3):c.2440-1G>A

SNV
Germline

Chr15:42411746

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA10606282

rs_886044052

8 SubmittersRCV000595361 RCV000726259 RCV003475916 RCV005008260

NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter)

SNV
Germline

Chr2:178766474

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10606293

rs_757836789

6 SubmittersRCV000726264 RCV000822916 RCV001787095 RCV002446529 RCV006261744

NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala)

SNV
Germline

Chr8:143916350

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4923795

rs_782756146

6 SubmittersRCV000402032 RCV000726265 RCV001039102 RCV003165766

NM_213599.3(ANO5):c.656A>G (p.Tyr219Cys)

SNV
Germline

Chr11:22236170

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-related disorder

Criteria Provided
Conflicting Classifications

CA5922986

rs_753667370

3 SubmittersRCV000285640 RCV001859693 RCV005869223

NM_058246.4(DNAJB6):c.513C>A (p.Gly171=)

SNV
Germline

Chr7:157384901

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA10606310

rs_886044069

2 SubmittersRCV000300891 RCV001437753

NM_001267550.2(TTN):c.28200C>T (p.Asp9400=)

SNV
Germline

Chr2:178710897

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10606319

rs_886044076

2 SubmittersRCV000293470 RCV006555791

NM_001267550.2(TTN):c.21069A>G (p.Gln7023=)

SNV
Germline

Chr2:178724306

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10606320

rs_886044077

2 SubmittersRCV000332174 RCV005209500

NM_001101426.4(CRPPA):c.789+9G>A

SNV
Germline

Chr7:16308514

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
CRPPA-related disorder

Criteria Provided
Conflicting Classifications

CA4169505

rs_375132134

3 SubmittersRCV000328700 RCV002229852 RCV004535422

NM_213599.3(ANO5):c.1450C>T (p.Arg484Cys)

SNV
Germline

Chr11:22259561

Conflicting classifications of pathogenicity

Condition: not provided
ANO5-Related Muscle Diseases
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
not specified

Criteria Provided
Conflicting Classifications

CA5923264

rs_777607869

6 SubmittersRCV000341417 RCV001106643 RCV001850442 RCV006452572

NM_001267550.2(TTN):c.60993A>G (p.Arg20331=)

SNV
Germline

Chr2:178590732

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10606328

rs_886044085

2 SubmittersRCV000300548 RCV006555792

NM_000232.5(SGCB):c.768C>T (p.Ile256=)

SNV
Germline

Chr4:52024146

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E
SGCB-related disorder

Criteria Provided
Conflicting Classifications

CA2918281

rs_149121189

5 SubmittersRCV000348391 RCV000726279 RCV001087422 RCV003930161

NM_001130987.2(DYSF):c.799G>A (p.Val267Met)

SNV
Germline

Chr2:71515662

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705466

rs_750724439

7 SubmittersRCV000363052 RCV000557862 RCV001273970

NM_001267550.2(TTN):c.56871C>T (p.Ser18957=)

SNV
Germline

Chr2:178598839

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993170

rs_370619063

8 SubmittersRCV000272727 RCV000277798 RCV000306684 RCV000341744 RCV000364990 RCV000402212 RCV001086859 RCV001170375 RCV002229853 RCV004021270

NM_001130987.2(DYSF):c.432G>A (p.Pro144=)

SNV
Germline

Chr2:71511893

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705349

rs_542176164

3 SubmittersRCV000387377 RCV001828264 RCV001510878

NM_213599.3(ANO5):c.2185G>A (p.Val729Ile)

SNV
Germline

Chr11:22272939

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5923471

rs_778772732

5 SubmittersRCV000295585 RCV001244701 RCV004021272

NM_001130987.2(DYSF):c.2864+5G>A

SNV
Germline

Chr2:71568343

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Reviewed By Expert Panel

CA10606385

rs_886044131

6 SubmittersRCV000342909 RCV000668205 RCV004567837 RCV005864471 RCV000647998

NM_000337.6(SGCD):c.357T>C (p.Thr119=)

SNV
Germline

Chr5:156589293

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10606386

rs_886044132

3 SubmittersRCV000402461 RCV000639558 RCV002460065

NM_213599.3(ANO5):c.19C>T (p.Leu7=)

SNV
Germline

Chr11:22193511

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA10606388

rs_886044133

2 SubmittersRCV000393325 RCV001490502

NM_024301.5(FKRP):c.885C>T (p.Arg295=)

SNV
Germline

Chr19:46756335

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9532206

rs_769005880

8 SubmittersRCV000394110 RCV001275317 RCV001083609 RCV001729511 RCV002446530

NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser)

SNV
Germline

Chr7:16216071

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Conflicting Classifications

CA4169349

rs_373134516

2 SubmittersRCV000280377 RCV001088571

NM_000232.5(SGCB):c.610T>C (p.Ser204Pro)

SNV
Germline

Chr4:52028741

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA10606417

rs_886044156

3 SubmittersRCV000376124 RCV003475917

NM_012470.4(TNPO3):c.804A>G (p.Gln268=)

SNV
Germline

Chr7:129001127

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA10606422

rs_886044161

2 SubmittersRCV000315026 RCV002059262

NM_017739.4(POMGNT1):c.444G>A (p.Val148=)

SNV
Germline

Chr1:46195901

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833722

rs_142016718

2 SubmittersRCV000325355 RCV001477716

NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)

SNV
Germline

Chr15:42408227

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7511567

rs_199806879

9 SubmittersRCV000354372 RCV000763349 RCV000727197 RCV003475918 RCV003330627

NM_001267550.2(TTN):c.55503G>A (p.Lys18501=)

SNV
Germline

Chr2:178601494

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10606446

rs_879239475

3 SubmittersRCV000264027 RCV000726327 RCV003765665

NM_001077365.2(POMT1):c.1486+9G>A

SNV
Germline

Chr9:131518966

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293714

rs_547775333

4 SubmittersRCV000319136 RCV000726328 RCV001395375 RCV004734945

NM_000023.4(SGCA):c.984-10G>A

SNV
Germline

Chr17:50175247

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8644062

rs_369385261

2 SubmittersRCV000355232 RCV001085777

NM_001130987.2(DYSF):c.127G>A (p.Val43Met)

SNV
Germline

Chr2:71480918

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
not specified

Criteria Provided
Conflicting Classifications

CA1705230

rs_374203339

7 SubmittersRCV000536797 RCV000711545 RCV001835762 RCV005895875

NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)

SNV
Germline

Chr19:46756420

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Condition: not provided
Muscular dystrophy-dystroglycanopathy type B5

Criteria Provided
Multiple Submitters
No Conflicts

CA10606452

rs_886044183

4 SubmittersRCV000282481 RCV000461986 RCV000726333 RCV005230229

NM_001267550.2(TTN):c.77907C>T (p.Asn25969=)

SNV
Germline

Chr2:178568225

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1989693

rs_375903820

7 SubmittersRCV000297549 RCV000726335 RCV001088758 RCV002348021 RCV003486808

NM_013382.7(POMT2):c.1117-7C>G

SNV
Germline

Chr14:77291387

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA10606455

rs_201921627

2 SubmittersRCV000272937 RCV002518086

NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys)

SNV
Germline

Chr2:71551625

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705911

rs_767415886

4 SubmittersRCV000389310 RCV000726337 RCV001271778 RCV001850449

NM_001267550.2(TTN):c.84188G>A (p.Arg28063His)

SNV
Germline

Chr2:178561944

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1988812

rs_570847832

4 SubmittersRCV000381416 RCV000473493 RCV003486809

NM_001267550.2(TTN):c.59341C>T (p.Leu19781Phe)

SNV
Germline

Chr2:178592778

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1992686

rs_555577161

2 SubmittersRCV000270975 RCV000276322 RCV000289406 RCV000326003 RCV000331417 RCV000365549

NM_001267550.2(TTN):c.35287C>T (p.Arg11763Ter)

SNV
Germline

Chr2:178671111

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10606481

rs_886044207

3 SubmittersRCV000293912 RCV003150154 RCV005213256

NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)

SNV
Germline

Chr19:46755906

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Conflicting Classifications

CA9532153

rs_199714523

16 SubmittersRCV000464325 RCV000408156 RCV000710136 RCV000765452 RCV001275311 RCV002338856 RCV003224253

NM_001130987.2(DYSF):c.1276+5G>A

SNV
Germline

Chr2:71526351

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
DYSF-related disorder
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Pancreatic adenocarcinoma
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1705673

rs_766433603

11 SubmittersRCV000675165 RCV000726343 RCV001048102 RCV003463775 RCV004751442 RCV005033847 RCV005895877 RCV005600895

NM_004393.6(DAG1):c.1641C>T (p.Gly547=)

SNV
Germline

Chr3:49532152

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA2399111

rs_374490206

2 SubmittersRCV000273500 RCV001087927

NM_001267550.2(TTN):c.34734A>G (p.Val11578=)

SNV
Germline

Chr2:178673685

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA10606488

rs_866407525

5 SubmittersRCV000325214 RCV000726345 RCV001085747 RCV003486810 RCV004535432

NM_213599.3(ANO5):c.1116A>G (p.Ser372=)

SNV
Germline

Chr11:22250843

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5923129

rs_151022897

2 SubmittersRCV000382407 RCV001500593

NM_000070.3(CAPN3):c.768C>T (p.Ile256=)

SNV
Germline

Chr15:42389063

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511107

rs_748032310

2 SubmittersRCV000337197 RCV002518090

NM_013382.7(POMT2):c.1726-9A>T

SNV
Germline

Chr14:77280089

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA10606504

rs_747493997

3 SubmittersRCV000378448 RCV000726355 RCV001445245

NM_001101426.4(CRPPA):c.402A>G (p.Leu134=)

SNV
Germline

Chr7:16406193

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA-related disorder

Criteria Provided
Conflicting Classifications

CA4169612

rs_368815582

4 SubmittersRCV000279378 RCV002518095 RCV004535435

NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)

SNV
Germline

Chr15:42401752

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
CAPN3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7511363

rs_147764579

16 SubmittersRCV000350336 RCV000517354 RCV002504018 RCV002509353 RCV003475920 RCV004535436

NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)

SNV
Germline

Chr13:23203852

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10606508

rs_781760379

6 SubmittersRCV000366203 RCV001850454 RCV004999243

NM_013382.7(POMT2):c.102C>G (p.Ala34=)

SNV
Germline

Chr14:77320580

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA10606511

rs_886044233

2 SubmittersRCV000318103 RCV003765671

NM_201384.3(PLEC):c.7180C>T (p.Arg2394Ter)

SNV
Germline

Chr8:143922749

Pathogenic

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Multiple Submitters
No Conflicts

CA10606513

rs_886044894

3 SubmittersRCV000627224 RCV002518096

NM_000070.3(CAPN3):c.1643G>A (p.Arg548His)

SNV
Germline

Chr15:42402900

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511454

rs_146309264

5 SubmittersRCV000333524 RCV001081033

NM_000070.3(CAPN3):c.2409A>G (p.Gly803=)

SNV
Germline

Chr15:42411315

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7511863

rs_143139259

4 SubmittersRCV000335103 RCV000380995

NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln)

SNV
Germline

Chr7:16376225

Conflicting classifications of pathogenicity

Congenital Muscular Dystrophy, alpha-dystroglycan related
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4169569

rs_773739293

5 SubmittersRCV000374609 RCV000539554 RCV000726360

NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe)

SNV
Germline

Chr7:16301448

Conflicting classifications of pathogenicity

not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
Condition: not provided
Congenital Muscular Dystrophy, alpha-dystroglycan related

Criteria Provided
Conflicting Classifications

CA4169492

rs_200334999

7 SubmittersRCV000384298 RCV000543444 RCV000726361 RCV001164713

NM_013382.7(POMT2):c.958C>T (p.Gln320Ter)

SNV
Germline

Chr14:77298737

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Multiple Submitters
No Conflicts

CA7286031

rs_775932206

3 SubmittersRCV000596523 RCV000648179

NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)

SNV
Germline

Chr19:46756354

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Conflicting Classifications

CA9532208

rs_762283381

7 SubmittersRCV000356554 RCV000469653 RCV002374484 RCV005016682 RCV000765454 RCV001273518

NM_000070.3(CAPN3):c.608C>T (p.Ala203Val)

SNV
Germline

Chr15:42387862

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7511069

rs_763719290

5 SubmittersRCV000314946 RCV000686362 RCV001267485 RCV005238857

NM_004393.6(DAG1):c.2580G>A (p.Ala860=)

SNV
Germline

Chr3:49533091

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA10606536

rs_886044253

2 SubmittersRCV000316862 RCV003765672

NM_012470.4(TNPO3):c.906A>G (p.Leu302=)

SNV
Germline

Chr7:129000534

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4478288

rs_141881594

2 SubmittersRCV000371444 RCV001088545

NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=)

SNV
Germline

Chr2:71669190

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707450

rs_577921112

6 SubmittersRCV000283009 RCV000726377 RCV001084464 RCV001276865

NM_013382.7(POMT2):c.924-2A>G

SNV
Germline

Chr14:77298773

Pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Multiple Submitters
No Conflicts

CA10606539

rs_886044256

2 SubmittersRCV000352653 RCV001230047

NM_000023.4(SGCA):c.555C>A (p.Val185=)

SNV
Germline

Chr17:50168543

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
Sarcoglycanopathy

Criteria Provided
Conflicting Classifications

CA8643828

rs_201518390

4 SubmittersRCV000360924 RCV001086806 RCV001122691

NM_000023.4(SGCA):c.614C>A (p.Pro205His)

SNV
Germline

Chr17:50169121

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
SGCA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA501043

rs_757481230

10 SubmittersRCV000675091 RCV000442753 RCV003317182 RCV004755847

NM_000023.4(SGCA):c.270C>T (p.Tyr90=)

SNV
Germline

Chr17:50167694

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643741

rs_749205073

4 SubmittersRCV000726389 RCV001088247

NM_001101426.4(CRPPA):c.382A>C (p.Arg128=)

SNV
Germline

Chr7:16406213

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Conflicting Classifications

CA10606600

rs_765435429

2 SubmittersRCV000371472 RCV003765674

NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)

SNV
Germline

Chr2:71611511

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706892

rs_139529811

7 SubmittersRCV000726406 RCV001086957 RCV001271534 RCV003910035

NM_001130987.2(DYSF):c.3228+7C>T

SNV
Germline

Chr2:71570748

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706463

rs_534331009

4 SubmittersRCV000386995 RCV001088534 RCV001272825

NM_001267550.2(TTN):c.31518C>T (p.Pro10506=)

SNV
Germline

Chr2:178693685

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1998924

rs_746912694

4 SubmittersRCV000318766 RCV000726431 RCV001131787 RCV001131789 RCV001132779 RCV001463504 RCV001131788 RCV001131790

NM_001077365.2(POMT1):c.246C>T (p.Phe82=)

SNV
Germline

Chr9:131506419

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Conflicting Classifications

CA5293202

rs_148887050

2 SubmittersRCV000332614 RCV001088902

NM_024301.5(FKRP):c.632C>T (p.Ser211Leu)

SNV
Germline

Chr19:46756082

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9532181

rs_750041378

5 SubmittersRCV000383820 RCV000460118 RCV001833398 RCV005562331

NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln)

SNV
Germline

Chr2:71658996

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707161

rs_538781815

6 SubmittersRCV000287690 RCV001062505 RCV001271546 RCV002518115 RCV004549620

NM_001130987.2(DYSF):c.1518C>A (p.Ile506=)

SNV
Germline

Chr2:71539181

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705798

rs_34387018

4 SubmittersRCV000335708 RCV001084714 RCV001828273

NM_001101426.4(CRPPA):c.261A>G (p.Val87=)

SNV
Germline

Chr7:16406334

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Conflicting Classifications

CA10606660

rs_886044356

3 SubmittersRCV000369542 RCV000726438 RCV005213257

NM_213599.3(ANO5):c.1434A>C (p.Val478=)

SNV
Germline

Chr11:22259545

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA10606664

rs_886044360

2 SubmittersRCV000343012 RCV001490070

NM_001130987.2(DYSF):c.*107T>A

SNV
Germline

Chr2:71686599

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10606673

rs_11903223

5 SubmittersRCV000351649 RCV000986771 RCV001138535 RCV001723875

NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met)

SNV
Germline

Chr2:71556014

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706069

rs_775539496

6 SubmittersRCV000304844 RCV000726444 RCV000804560 RCV001279899

NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met)

SNV
Germline

Chr2:71660630

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1707202

rs_144383140

7 SubmittersRCV000348647 RCV001240482 RCV001833403 RCV002494891 RCV005562332

NM_001130987.2(DYSF):c.888+1G>A

SNV
Germline

Chr2:71515752

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10606682

rs_886044377

6 SubmittersRCV000597496 RCV000726446 RCV002518120 RCV003469247 RCV005864474

NM_001130987.2(DYSF):c.2217-1G>T

SNV
Germline

Chr2:71561751

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA10606685

rs_886044379

3 SubmittersRCV000382100 RCV001172377 RCV003574729

NM_013382.7(POMT2):c.84C>T (p.Ala28=)

SNV
Germline

Chr14:77320598

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA7286282

rs_771031903

2 SubmittersRCV000287692 RCV001080397

NM_001130987.2(DYSF):c.757C>T (p.Gln253Ter)

SNV
Germline

Chr2:71513919

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Reviewed By Expert Panel

CA10606688

rs_886044381

5 SubmittersRCV000597870 RCV002519337 RCV004999247 RCV005033853

NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr)

SNV
Germline

Chr9:105607874

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Condition: not provided
not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X

Criteria Provided
Conflicting Classifications

CA5170471

rs_373418195

8 SubmittersRCV000700000 RCV000726450 RCV002229751 RCV002480051

NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)

SNV
Germline

Chr2:71561792

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706110

rs_202123283

7 SubmittersRCV001082501 RCV001271788 RCV003910038 RCV004975406 RCV000726455

NM_017739.4(POMGNT1):c.269G>A (p.Arg90His)

SNV
Germline

Chr1:46196816

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA833803

rs_139701867

7 SubmittersRCV000407599 RCV000524954 RCV000763938 RCV001275757 RCV002518127

NM_001130987.2(DYSF):c.1577-1655C>G

SNV
Germline

Chr2:71549386

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10606720

rs_886044410

4 SubmittersRCV000404144 RCV002518128 RCV003463777 RCV005864475

NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)

SNV
Germline

Chr2:71613408

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA10606721

rs_886044411

7 SubmittersRCV000306643 RCV000726457 RCV003463778 RCV003736690 RCV005025440 RCV006445657

NM_201384.3(PLEC):c.10602C>T (p.Pro3534=)

SNV
Germline

Chr8:143919219

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924594

rs_782052487

2 SubmittersRCV000296312 RCV001080652

NM_012470.4(TNPO3):c.234C>T (p.Leu78=)

SNV
Germline

Chr7:129018044

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4478437

rs_142268279

2 SubmittersRCV000355049 RCV001079515

NM_001077365.2(POMT1):c.1194C>G (p.Pro398=)

SNV
Germline

Chr9:131515444

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA5293578

rs_371653610

3 SubmittersRCV000261691 RCV000726459 RCV001415274

NM_201384.3(PLEC):c.5556G>A (p.Ala1852=)

SNV
Germline

Chr8:143924373

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4926326

rs_782115169

2 SubmittersRCV000366793 RCV002059285

NM_001130987.2(DYSF):c.2217-2A>G

SNV
Germline

Chr2:71561750

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1706103

rs_747289205

5 SubmittersRCV000326270 RCV000726460 RCV001859714 RCV006445658

NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter)

SNV
Germline

Chr2:71665187

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10606735

rs_886044422

4 SubmittersRCV000291296 RCV000726461 RCV001859715 RCV004567838

NM_012470.4(TNPO3):c.318G>A (p.Thr106=)

SNV
Germline

Chr7:129017960

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4478429

rs_140754153

2 SubmittersRCV000285804 RCV001080141

NM_000070.3(CAPN3):c.2119G>C (p.Asp707His)

SNV
Germline

Chr15:42410431

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10606740

rs_886044427

2 SubmittersRCV000324676 RCV000525491

NM_000070.3(CAPN3):c.1662C>G (p.Tyr554Ter)

SNV
Germline

Chr15:42402919

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA10606744

rs_752848213

2 SubmittersRCV000298797 RCV000812975

NM_001267550.2(TTN):c.21966G>C (p.Pro7322=)

SNV
Germline

Chr2:178722933

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10606751

rs_773546767

2 SubmittersRCV000391662 RCV003765680

NM_001267550.2(TTN):c.6690C>T (p.Phe2230=)

SNV
Germline

Chr2:178775021

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004997

rs_755122338

3 SubmittersRCV001462994 RCV000342592 RCV004678666

NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)

SNV
Germline

Chr2:178578835

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1991173

rs_727505352

9 SubmittersRCV000339197 RCV000726470 RCV000642960 RCV000852819

NM_017739.4(POMGNT1):c.652+6G>A

SNV
Germline

Chr1:46194838

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833664

rs_369289384

4 SubmittersRCV000287773 RCV000726485 RCV001242504

NM_201384.3(PLEC):c.8952C>T (p.Ala2984=)

SNV
Germline

Chr8:143920869

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4925127

rs_371672166

2 SubmittersRCV000390852 RCV001086244

NM_001267550.2(TTN):c.99990A>G (p.Lys33330=)

SNV
Germline

Chr2:178537119

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1986093

rs_749702063

5 SubmittersRCV000273229 RCV004021303 RCV005055837 RCV001451526

NM_001267550.2(TTN):c.91749C>T (p.Ser30583=)

SNV
Germline

Chr2:178550089

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10606781

rs_886044458

5 SubmittersRCV000385383 RCV001425212 RCV002271486 RCV003165776

NM_201384.3(PLEC):c.12999C>T (p.Thr4333=)

SNV
Germline

Chr8:143916822

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4923928

rs_782592963

2 SubmittersRCV000294351 RCV001082349

NM_201384.3(PLEC):c.963C>T (p.Phe321=)

SNV
Germline

Chr8:143934713

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
not specified
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928228

rs_368425406

6 SubmittersRCV000375820 RCV001079033 RCV001288672 RCV004543137

NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln)

SNV
Germline

Chr8:143927633

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4927030

rs_782590380

7 SubmittersRCV000278926 RCV000793112 RCV004999248 RCV004955389

NM_001267550.2(TTN):c.27715T>C (p.Tyr9239His)

SNV
Germline

Chr2:178712115

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1999737

rs_373068293

6 SubmittersRCV000286981 RCV000525135 RCV002494895 RCV003486811

NM_001267550.2(TTN):c.58207G>C (p.Ala19403Pro)

SNV
Germline

Chr2:178594186

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1992894

rs_545185154

3 SubmittersRCV000259463 RCV000274681 RCV000317014 RCV000356634 RCV000366217 RCV000378536

NM_001267550.2(TTN):c.78372T>C (p.Ile26124=)

SNV
Germline

Chr2:178567760

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10606784

rs_886044461

3 SubmittersRCV000308150 RCV001086300 RCV002338862

NM_001267550.2(TTN):c.30224-7T>G

SNV
Germline

Chr2:178702670

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1999205

rs_778458915

5 SubmittersRCV000528702 RCV000726489 RCV004537613 RCV005895894

NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp)

SNV
Germline

Chr9:105615317

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Dilated cardiomyopathy 1X
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X
FKTN-related disorder

Criteria Provided
Conflicting Classifications

CA5170500

rs_558187116

11 SubmittersRCV000263255 RCV000526522 RCV001169711 RCV001169710 RCV002429237 RCV002487283 RCV004734947

NM_017739.4(POMGNT1):c.1284+9G>C

SNV
Germline

Chr1:46192509

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA833417

rs_565797493

5 SubmittersRCV000346335 RCV000726491 RCV001079134 RCV001833408 RCV004543139

NM_000070.3(CAPN3):c.1542C>T (p.His514=)

SNV
Germline

Chr15:42402799

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511430

rs_377215244

2 SubmittersRCV000385306 RCV001403267

NM_213599.3(ANO5):c.1689T>C (p.Phe563=)

SNV
Germline

Chr11:22262187

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA10606800

rs_527322470

4 SubmittersRCV000334657 RCV006555797

NM_000070.3(CAPN3):c.2263+1G>A

SNV
Germline

Chr15:42410667

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10606801

rs_886044475

3 SubmittersRCV000375361 RCV000726501

NM_013382.7(POMT2):c.1080C>T (p.His360=)

SNV
Germline

Chr14:77296200

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA7285994

rs_776866129

2 SubmittersRCV000393483 RCV003765682

NM_000070.3(CAPN3):c.2231G>C (p.Ser744Thr)

SNV
Germline

Chr15:42410634

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10606809

rs_886044480

2 SubmittersRCV000390338 RCV003517179

NM_000070.3(CAPN3):c.1706T>C (p.Phe569Ser)

SNV
Germline

Chr15:42402963

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10606813

rs_886044483

3 SubmittersRCV000370228 RCV003517180 RCV005008262

NM_000231.3(SGCG):c.385+2T>G

SNV
Germline

Chr13:23250719

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA10606816

rs_200206447

2 SubmittersRCV000268479 RCV003485572

NM_001130987.2(DYSF):c.3501G>A (p.Gly1167=)

SNV
Germline

Chr2:71590215

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706609

rs_138317526

3 SubmittersRCV000348989 RCV001459031 RCV001835771

NM_001267550.2(TTN):c.79545C>T (p.Gly26515=)

SNV
Germline

Chr2:178566587

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989461

rs_761713195

6 SubmittersRCV000369148 RCV002059295 RCV002338864

NM_001077365.2(POMT1):c.1647G>A (p.Glu549=)

SNV
Germline

Chr9:131520142

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Conflicting Classifications

CA5293766

rs_757830349

3 SubmittersRCV000367352 RCV001392641

NM_001267550.2(TTN):c.42415+7G>A

SNV
Germline

Chr2:178634359

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1996086

rs_772004291

3 SubmittersRCV000264179 RCV001493858 RCV004586670

NM_003673.4(TCAP):c.66G>A (p.Trp22Ter)

SNV
Germline

Chr17:39665425

Pathogenic/Likely pathogenic

Condition: not provided
Hypertrophic cardiomyopathy 25
Primary familial hypertrophic cardiomyopathy
Cardiovascular phenotype
Hypertrophic cardiomyopathy 25
Hypertrophic cardiomyopathy 25
Autosomal recessive limb-girdle muscular dystrophy type 2G

Criteria Provided
Multiple Submitters
No Conflicts

CA10606859

rs_141019458

7 SubmittersRCV000400258 RCV001231484 RCV002365326 RCV002288966 RCV002502153

NM_201384.3(PLEC):c.3780C>T (p.Arg1260=)

SNV
Germline

Chr8:143927312

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926932

rs_201737115

2 SubmittersRCV000351123 RCV001086526

NM_201384.3(PLEC):c.10116C>T (p.Tyr3372=)

SNV
Germline

Chr8:143919705

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4924749

rs_370643130

2 SubmittersRCV000354547 RCV002518141

NM_001267550.2(TTN):c.94794A>G (p.Glu31598=)

SNV
Germline

Chr2:178546634

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10606863

rs_368885714

2 SubmittersRCV000358221 RCV001396125

NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)

SNV
Germline

Chr2:71600724

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706705

rs_2303603

8 SubmittersRCV000326858 RCV000517716 RCV000710129 RCV001085630 RCV003957518

NM_001101426.4(CRPPA):c.828T>C (p.Ile276=)

SNV
Germline

Chr7:16301428

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Conflicting Classifications

CA4169487

rs_201334104

2 SubmittersRCV000332676 RCV001082644

NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu)

SNV
Germline

Chr2:71568329

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Conflicting Classifications

CA1706296

rs_150717638

6 SubmittersRCV000380360 RCV001246606 RCV001833413 RCV002480056

NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr)

SNV
Germline

Chr2:178614676

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1994738

rs_372911542

5 SubmittersRCV000282693 RCV000764336 RCV000642954 RCV003150157

NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter)

SNV
Germline

Chr2:178532202

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1985430

rs_750519430

7 SubmittersRCV000337217 RCV001377610 RCV005502782 RCV006249627

NM_000023.4(SGCA):c.657C>T (p.His219=)

SNV
Germline

Chr17:50169164

Conflicting classifications of pathogenicity

Condition: not provided
Sarcoglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643857

rs_747684069

4 SubmittersRCV000352432 RCV001123793 RCV001413037

NM_001267550.2(TTN):c.47693G>A (p.Arg15898Gln)

SNV
Germline

Chr2:178617392

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995005

rs_376278449

6 SubmittersRCV000313071 RCV000475193 RCV000765569 RCV001798776 RCV002418137

NM_001267550.2(TTN):c.83059C>T (p.Leu27687=)

SNV
Germline

Chr2:178563073

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988979

rs_200992636

6 SubmittersRCV000307668 RCV000643502 RCV001133979 RCV001133980 RCV001133981 RCV001133982 RCV001133978 RCV001705434 RCV003165779

NM_001077365.2(POMT1):c.1486+10C>T

SNV
Germline

Chr9:131518967

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Conflicting Classifications

CA5293715

rs_373393733

3 SubmittersRCV000272104 RCV000362366 RCV001510760

NM_001267550.2(TTN):c.62534C>T (p.Thr20845Met)

SNV
Germline

Chr2:178589191

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA1992216

rs_727505316

4 SubmittersRCV000355324 RCV001134244 RCV001134246 RCV001134243 RCV001134245 RCV001134247 RCV005404478 RCV005396903

NM_201384.3(PLEC):c.7741C>T (p.Arg2581Trp)

SNV
Germline

Chr8:143922080

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925528

rs_782485083

5 SubmittersRCV000399731 RCV000696993 RCV004955393

NM_001267550.2(TTN):c.9108T>C (p.Ala3036=)

SNV
Germline

Chr2:178768728

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10606891

rs_886044544

3 SubmittersRCV000332188 RCV002446534 RCV003765687

NM_001130987.2(DYSF):c.2034G>A (p.Val678=)

SNV
Germline

Chr2:71553856

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706029

rs_138111360

5 SubmittersRCV000726558 RCV001086499 RCV001835773

NM_017739.4(POMGNT1):c.1813C>T (p.Arg605Cys)

SNV
Germline

Chr1:46189540

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
not specified

Criteria Provided
Conflicting Classifications

CA10606918

rs_886044567

3 SubmittersRCV000397961 RCV001859723 RCV005418058

NM_001130987.2(DYSF):c.2820C>T (p.Ala940=)

SNV
Germline

Chr2:71568294

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706289

rs_373328706

5 SubmittersRCV000726568 RCV001084706 RCV001271797

NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)

SNV
Germline

Chr17:50167614

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643731

rs_759692350

6 SubmittersRCV000274092 RCV001859727

NM_001130987.2(DYSF):c.5785-8C>T

SNV
Germline

Chr2:71674189

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707507

rs_201191038

6 SubmittersRCV001276868 RCV005895902 RCV005895901 RCV000348163 RCV001081056

NM_001130987.2(DYSF):c.6155C>G (p.Pro2052Arg)

SNV
Germline

Chr2:71681092

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2B

Reviewed By Expert Panel

CA10607009

rs_886044643

3 SubmittersRCV000361763 RCV005600897 RCV005614401

NM_001130987.2(DYSF):c.3297C>T (p.Leu1099=)

SNV
Germline

Chr2:71574266

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706509

rs_144936357

3 SubmittersRCV000323183 RCV001272828 RCV001089268

NM_058246.4(DNAJB6):c.429G>A (p.Ala143=)

SNV
Germline

Chr7:157382328

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6-related disorder

Criteria Provided
Conflicting Classifications

CA4590516

rs_150709673

3 SubmittersRCV000266880 RCV001438617 RCV004755850

NM_004393.6(DAG1):c.1848G>A (p.Pro616=)

SNV
Germline

Chr3:49532359

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P

Criteria Provided
Conflicting Classifications

CA2399161

rs_762334457

2 SubmittersRCV000326601 RCV002059311

NM_001130987.2(DYSF):c.6174-9C>T

SNV
Germline

Chr2:71682521

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707635

rs_201070766

8 SubmittersRCV000265268 RCV000726633 RCV001276872 RCV001084824 RCV003940080

NM_017739.4(POMGNT1):c.1540-6C>T

SNV
Germline

Chr1:46190790

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease

Criteria Provided
Conflicting Classifications

CA833317

rs_770449394

3 SubmittersRCV000303249 RCV000358125 RCV000877564 RCV001833425

NM_017739.4(POMGNT1):c.*451C>T

SNV
Germline

Chr1:46188819

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA833137

rs_148903585

3 SubmittersRCV000296026 RCV000350895 RCV002244746

NM_017739.4(POMGNT1):c.129C>T (p.Ala43=)

SNV
Germline

Chr1:46197076

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833846

rs_138950267

3 SubmittersRCV000270884 RCV000381350 RCV000732410 RCV001088107

NM_001267550.2(TTN):c.*6C>A

SNV
Germline

Chr2:178527006

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1984851

rs_188728343

7 SubmittersRCV000261191 RCV000301130 RCV000311618 RCV000353633 RCV000399616 RCV000435138 RCV001726128

NM_001267550.2(TTN):c.102984C>T (p.Asp34328=)

SNV
Germline

Chr2:178533631

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985672

rs_541125667

10 SubmittersRCV000259921 RCV000298697 RCV000357106 RCV000370182 RCV000404855 RCV000603386 RCV000831397 RCV001429062 RCV005286067

NM_001267550.2(TTN):c.98989+12A>C

SNV
Germline

Chr2:178538934

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1986282

rs_72648275

4 SubmittersRCV000271664 RCV000321818 RCV000326695 RCV000361241 RCV000384878 RCV000610500 RCV002057613 RCV004530329

NM_001267550.2(TTN):c.96030A>G (p.Glu32010=)

SNV
Germline

Chr2:178544114

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986824

rs_144101806

3 SubmittersRCV000290273 RCV000289017 RCV000343900 RCV000378771 RCV000384493 RCV002057614 RCV004021785

NM_001267550.2(TTN):c.95196G>A (p.Pro31732=)

SNV
Germline

Chr2:178546040

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986992

rs_752309744

10 SubmittersRCV000292154 RCV000346099 RCV000349691 RCV000384378 RCV000400307 RCV000643496 RCV001712058 RCV001729543 RCV002365393

NM_001267550.2(TTN):c.89924C>T (p.Ala29975Val)

SNV
Germline

Chr2:178552976

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1987854

rs_117097948

1 SubmittersRCV000304317 RCV000309343 RCV000395131 RCV000395132 RCV000354346

NM_001267550.2(TTN):c.86658G>A (p.Glu28886=)

SNV
Germline

Chr2:178559474

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988459

rs_760858743

8 SubmittersRCV000262973 RCV000312953 RCV000318136 RCV000367646 RCV000404886 RCV000475658 RCV000436153 RCV000622020 RCV003736725

NM_001267550.2(TTN):c.85462G>A (p.Val28488Ile)

SNV
Germline

Chr2:178560670

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988636

rs_377264123

4 SubmittersRCV000268248 RCV000272440 RCV000304731 RCV000327501 RCV000359506 RCV000538168 RCV003137943 RCV002356452

NM_001267550.2(TTN):c.84443C>G (p.Ala28148Gly)

SNV
Germline

Chr2:178561689

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1988775

rs_751860205

1 SubmittersRCV000313134 RCV000402968 RCV000314119 RCV000344669 RCV000371371

NM_001267550.2(TTN):c.84405T>C (p.Tyr28135=)

SNV
Germline

Chr2:178561727

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988779

rs_756176112

5 SubmittersRCV000263391 RCV000267015 RCV000324512 RCV000354759 RCV000356251 RCV000613415 RCV001459608 RCV002348076

NM_001267550.2(TTN):c.83281G>C (p.Val27761Leu)

SNV
Germline

Chr2:178562851

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
not specified
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA1988947

rs_371788070

7 SubmittersRCV000267737 RCV000268849 RCV000322601 RCV000328564 RCV000363314 RCV000554942 RCV001170782 RCV001565800 RCV005431621 RCV006555846

NM_001267550.2(TTN):c.81217C>T (p.Pro27073Ser)

SNV
Germline

Chr2:178564915

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1989238

rs_542799302

2 SubmittersRCV000287717 RCV000379772 RCV000326365 RCV000322724 RCV000357556 RCV004735477

NM_001267550.2(TTN):c.75194A>G (p.His25065Arg)

SNV
Germline

Chr2:178570938

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1990089

rs_182161195

2 SubmittersRCV000315306 RCV000344514 RCV000365719 RCV000393320 RCV000401598 RCV000862066

NM_001267550.2(TTN):c.73776G>A (p.Arg24592=)

SNV
Germline

Chr2:178572356

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10611618

rs_886055247

2 SubmittersRCV000273551 RCV000319157 RCV000332127 RCV000368108 RCV000371073 RCV003765923

NM_001267550.2(TTN):c.71833T>C (p.Trp23945Arg)

SNV
Germline

Chr2:178574299

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1990582

rs_553796385

1 SubmittersRCV000280236 RCV000302427 RCV000342223 RCV000372071 RCV000403345

NM_001267550.2(TTN):c.66772C>T (p.Pro22258Ser)

SNV
Germline

Chr2:178580607

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1991433

rs_781220405

1 SubmittersRCV000292327 RCV000349639 RCV000296488 RCV000387880 RCV000392847

NM_001267550.2(TTN):c.64119A>C (p.Leu21373Phe)

SNV
Germline

Chr2:178586782

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1991949

rs_753245626

1 SubmittersRCV000279668 RCV000280410 RCV000319635 RCV000351056 RCV000400184

NM_001267550.2(TTN):c.63287T>A (p.Ile21096Asn)

SNV
Germline

Chr2:178588120

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992113

rs_558727238

3 SubmittersRCV000284284 RCV000285178 RCV000339354 RCV000383293 RCV000379974 RCV000830854

NM_001267550.2(TTN):c.62673T>C (p.Asp20891=)

SNV
Germline

Chr2:178589052

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992195

rs_374354363

4 SubmittersRCV000294612 RCV000349206 RCV000344847 RCV000390972 RCV000400717 RCV000827411 RCV001455451 RCV002338925

NM_001267550.2(TTN):c.62011G>A (p.Glu20671Lys)

SNV
Germline

Chr2:178589714

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992282

rs_770684884

5 SubmittersRCV000283430 RCV000291470 RCV000343002 RCV000377923 RCV000381020 RCV000869098 RCV001731612

NM_001267550.2(TTN):c.61370A>C (p.Glu20457Ala)

SNV
Germline

Chr2:178590355

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992378

rs_541930965

3 SubmittersRCV000351260 RCV000281500 RCV000293984 RCV000338846 RCV000386335 RCV001565788 RCV002450899

NM_001267550.2(TTN):c.60343G>A (p.Asp20115Asn)

SNV
Germline

Chr2:178591382

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1992502

rs_369893671

7 SubmittersRCV000315024 RCV000311908 RCV000368981 RCV000362803 RCV000993463 RCV000399596 RCV005238918

NM_001267550.2(TTN):c.53100T>C (p.Pro17700=)

SNV
Germline

Chr2:178607588

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10611666

rs_373140387

2 SubmittersRCV000265123 RCV000287580 RCV000322690 RCV000379601 RCV000383202 RCV002057621

NM_001267550.2(TTN):c.52526G>A (p.Arg17509His)

SNV
Germline

Chr2:178608357

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993974

rs_886055267

3 SubmittersRCV000287510 RCV000310136 RCV000367112 RCV000390826 RCV001660689 RCV000396711 RCV003486818

NM_001267550.2(TTN):c.52434T>G (p.Ile17478Met)

SNV
Germline

Chr2:178608449

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993989

rs_554368924

3 SubmittersRCV000260068 RCV000317569 RCV000314067 RCV000371115 RCV000396717 RCV002298571 RCV006277799

NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala)

SNV
Germline

Chr2:178609896

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994174

rs_768961892

7 SubmittersRCV000286117 RCV000340928 RCV000344314 RCV000383600 RCV000390795 RCV000643212 RCV000602149 RCV001697826

NM_001267550.2(TTN):c.47684T>C (p.Ile15895Thr)

SNV
Germline

Chr2:178617401

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995008

rs_768530598

2 SubmittersRCV000269252 RCV000274940 RCV000326679 RCV000327999 RCV000384801 RCV003137952

NM_001267550.2(TTN):c.46800A>G (p.Glu15600=)

SNV
Germline

Chr2:178618750

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995166

rs_190058852

10 SubmittersRCV000264075 RCV000308815 RCV000314013 RCV000358919 RCV000364052 RCV000423513 RCV000643205 RCV001311255 RCV002418196

NM_001267550.2(TTN):c.44691G>A (p.Lys14897=)

SNV
Germline

Chr2:178624589

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
TTN-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995592

rs_755769210

6 SubmittersRCV000299213 RCV000312228 RCV000356404 RCV000392377 RCV000405513 RCV000770037 RCV001466259 RCV002510872 RCV004530331 RCV006342238

NM_001267550.2(TTN):c.40786+3G>A

SNV
Germline

Chr2:178640045

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996387

rs_551963261

3 SubmittersRCV000288909 RCV000290238 RCV000324376 RCV000328989 RCV002521347 RCV000377729 RCV000592340

NM_001267550.2(TTN):c.40701G>A (p.Arg13567=)

SNV
Germline

Chr2:178640563

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996413

rs_750761966

3 SubmittersRCV000292594 RCV000300360 RCV000349531 RCV000350922 RCV000401236 RCV000533453 RCV002379221

NM_001267550.2(TTN):c.39090G>A (p.Ala13030=)

SNV
Germline

Chr2:178652495

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1996869

rs_375519815

4 SubmittersRCV000302696 RCV000301451 RCV000356263 RCV000390517 RCV000391962 RCV000441149 RCV000525321

NM_001267550.2(TTN):c.34379-15A>G

SNV
Germline

Chr2:178676010

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998081

rs_764544769

5 SubmittersRCV000297820 RCV000301196 RCV000336367 RCV000395976 RCV000401394 RCV000610712 RCV001699320 RCV002057624

NM_001267550.2(TTN):c.34140A>G (p.Glu11380=)

SNV
Germline

Chr2:178677772

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998133

rs_147418835

9 SubmittersRCV000259807 RCV000275254 RCV000332773 RCV000374409 RCV000371038 RCV000596218 RCV000538959 RCV001170393 RCV000997501

NM_001267550.2(TTN):c.30682+7T>C

SNV
Germline

Chr2:178701113

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1999079

rs_752353097

2 SubmittersRCV000289919 RCV000295967 RCV000348593 RCV000386803 RCV000388417 RCV001490448

NM_001267550.2(TTN):c.30230C>T (p.Pro10077Leu)

SNV
Germline

Chr2:178702657

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1999202

rs_374075627

4 SubmittersRCV000276929 RCV000311952 RCV000329536 RCV000369112 RCV000368944 RCV001552864 RCV005238919

NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr)

SNV
Germline

Chr2:178706557

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA1999409

rs_371163094

10 SubmittersRCV000291685 RCV000304696 RCV000344234 RCV000396317 RCV000390621 RCV000470820 RCV000727772 RCV003317195 RCV005027423

NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu)

SNV
Germline

Chr2:178731941

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001941

rs_370889765

7 SubmittersRCV000275139 RCV000309232 RCV000314970 RCV000366312 RCV000367396 RCV000476843 RCV000770094 RCV000713978

NM_001267550.2(TTN):c.16056T>C (p.Asp5352=)

SNV
Germline

Chr2:178733120

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2002100

rs_376820575

11 SubmittersRCV000271953 RCV000270807 RCV000307254 RCV000366454 RCV000377053 RCV000713976 RCV001080876 RCV001699321 RCV001798791 RCV004544613

NM_001267550.2(TTN):c.15453T>C (p.Asn5151=)

SNV
Germline

Chr2:178734371

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002228

rs_201343844

7 SubmittersRCV000283219 RCV000289153 RCV000332441 RCV000346392 RCV000382374 RCV001170872 RCV001442054 RCV001699322 RCV001726131

NM_001267550.2(TTN):c.14973T>C (p.Tyr4991=)

SNV
Germline

Chr2:178734951

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2002308

rs_761666344

5 SubmittersRCV000270838 RCV000308711 RCV000315276 RCV000363107 RCV000365791 RCV000466438 RCV003430844 RCV003486820 RCV004530335

NM_001267550.2(TTN):c.6517T>G (p.Leu2173Val)

SNV
Germline

Chr2:178775194

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA2005016

rs_760798049

1 SubmittersRCV000367691 RCV000312966 RCV000348061 RCV000402905 RCV000404788

NM_001267550.2(TTN):c.3242C>T (p.Ala1081Val)

SNV
Germline

Chr2:178782350

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2005593

rs_528216574

4 SubmittersRCV000286362 RCV000341244 RCV000356189 RCV000406971 RCV000406964 RCV003137958 RCV004735481

NM_001267550.2(TTN):c.2138G>A (p.Arg713Gln)

SNV
Germline

Chr2:178786080

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2005889

rs_761383124

4 SubmittersRCV000279844 RCV000334869 RCV000368679 RCV000407830 RCV000621293 RCV000407832 RCV003137959 RCV005404516

NM_001267550.2(TTN):c.*280A>G

SNV
Germline

Chr2:178526732

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10611997

rs_549242855

1 SubmittersRCV000265278 RCV000308695 RCV000305997 RCV000354877 RCV000358469

NM_001267550.2(TTN):c.*25C>T

SNV
Germline

Chr2:178526987

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1984847

rs_370597649

1 SubmittersRCV000290362 RCV000307898 RCV000395233 RCV000347387 RCV000351030

NM_001267550.2(TTN):c.105897G>C (p.Glu35299Asp)

SNV
Germline

Chr2:178530718

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10612002

rs_886055219

3 SubmittersRCV000261720 RCV000265122 RCV000297754 RCV000300611 RCV000357728 RCV002521342 RCV003486814

NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val)

SNV
Germline

Chr2:178531232

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985269

rs_758458467

5 SubmittersRCV000281757 RCV000321782 RCV000372813 RCV000578001 RCV000577947 RCV000616776 RCV003137937

NM_001267550.2(TTN):c.104277G>A (p.Lys34759=)

SNV
Germline

Chr2:178532338

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1985449

rs_377391143

7 SubmittersRCV000303059 RCV000304445 RCV000342916 RCV000355591 RCV000405003 RCV000726673 RCV001082825 RCV002402054 RCV005238917

NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)

SNV
Germline

Chr2:178537143

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1986096

rs_775769503

12 SubmittersRCV000273760 RCV000296140 RCV000331164 RCV000344102 RCV000375299 RCV000594505 RCV000621517 RCV003226282

NM_001267550.2(TTN):c.99567C>T (p.Leu33189=)

SNV
Germline

Chr2:178537640

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986170

rs_745708104

7 SubmittersRCV000286171 RCV000291846 RCV000321215 RCV000378182 RCV000407408 RCV000431706 RCV000726780 RCV001087500 RCV001170522 RCV002374562

NM_001267550.2(TTN):c.99154C>T (p.Arg33052Cys)

SNV
Germline

Chr2:178538675

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1986246

rs_758109676

1 SubmittersRCV000297178 RCV000260897 RCV000300928 RCV000349404 RCV000408203

NM_001267550.2(TTN):c.97717C>T (p.Arg32573Cys)

SNV
Germline

Chr2:178541360

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986502

rs_569593251

4 SubmittersRCV000265881 RCV000288333 RCV000328035 RCV000358173 RCV000384949 RCV001547700

NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met)

SNV
Germline

Chr2:178541553

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986530

rs_755848026

3 SubmittersRCV000276321 RCV000306676 RCV000333703 RCV000363734 RCV000385997 RCV000852487 RCV003137941

NM_001267550.2(TTN):c.97410T>C (p.Tyr32470=)

SNV
Germline

Chr2:178542346

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10612019

rs_886055228

2 SubmittersRCV000282995 RCV000307444 RCV000343579 RCV000393755 RCV000400682 RCV002365392

NM_001267550.2(TTN):c.95016T>C (p.Thr31672=)

SNV
Germline

Chr2:178546315

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1987030

rs_367549998

4 SubmittersRCV000270064 RCV000273724 RCV000331190 RCV000365869 RCV000369559 RCV000643216 RCV002365394 RCV004530330

NM_001267550.2(TTN):c.92058C>T (p.Asn30686=)

SNV
Germline

Chr2:178549664

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987511

rs_545632095

4 SubmittersRCV000261221 RCV000273979 RCV000301245 RCV000313974 RCV000370975 RCV000727949 RCV001088384 RCV002356450

NM_001267550.2(TTN):c.80904C>T (p.Ile26968=)

SNV
Germline

Chr2:178565228

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1989281

rs_539234338

3 SubmittersRCV000262837 RCV000318137 RCV000351987 RCV000372731 RCV000387307 RCV002348079 RCV002521346

NM_001267550.2(TTN):c.79155G>A (p.Val26385=)

SNV
Germline

Chr2:178566977

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989513

rs_377618488

4 SubmittersRCV000290515 RCV000304219 RCV000342754 RCV000398558 RCV000400755 RCV000643313 RCV001705503 RCV002338919

NM_001267550.2(TTN):c.78654T>C (p.His26218=)

SNV
Germline

Chr2:178567478

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10612039

rs_886055244

3 SubmittersRCV000272128 RCV000321296 RCV000329566 RCV000368961 RCV000381870 RCV002057617 RCV002338921

NM_001267550.2(TTN):c.77649C>T (p.Ile25883=)

SNV
Germline

Chr2:178568483

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989736

rs_747430905

3 SubmittersRCV000287862 RCV000296139 RCV000347468 RCV000350957 RCV000397141 RCV001497900 RCV004678681

NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)

SNV
Germline

Chr2:178571530

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990169

rs_72646898

16 SubmittersRCV000276928 RCV000325387 RCV000330878 RCV000369107 RCV000382277 RCV000469841 RCV000512928 RCV001280555 RCV003150163 RCV002338923

NM_001267550.2(TTN):c.71883T>C (p.Val23961=)

SNV
Germline

Chr2:178574249

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990574

rs_368692510

10 SubmittersRCV000277943 RCV000280973 RCV000330736 RCV000387532 RCV000388719 RCV000434663 RCV000470162 RCV001528543 RCV002328852

NM_001267550.2(TTN):c.71793A>G (p.Pro23931=)

SNV
Germline

Chr2:178574339

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1990583

rs_780920316

2 SubmittersRCV000270113 RCV000309910 RCV000313230 RCV000362397 RCV000396370 RCV001495697

NM_001267550.2(TTN):c.71058G>A (p.Ala23686=)

SNV
Germline

Chr2:178575074

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
not specified
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990684

rs_375183437

6 SubmittersRCV000300571 RCV000322831 RCV000353062 RCV000360952 RCV000393233 RCV000611133 RCV000768938 RCV000643052 RCV001311959 RCV002328853

NM_001267550.2(TTN):c.65499A>G (p.Arg21833=)

SNV
Germline

Chr2:178583683

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1991693

rs_369255906

6 SubmittersRCV000274078 RCV000277177 RCV000329281 RCV000332269 RCV000368757 RCV000952649 RCV001572142 RCV002356453 RCV005404508

NM_001267550.2(TTN):c.65168G>A (p.Gly21723Asp)

SNV
Germline

Chr2:178584383

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1991766

rs_371802736

4 SubmittersRCV000278887 RCV000336044 RCV000348974 RCV000399487 RCV000391280 RCV001824307 RCV004767234

NM_001267550.2(TTN):c.65022C>T (p.Asp21674=)

SNV
Germline

Chr2:178584529

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10612052

rs_866763453

2 SubmittersRCV000300158 RCV000305892 RCV000339700 RCV000406681 RCV000406729 RCV003765924

NM_001267550.2(TTN):c.62609A>C (p.Asn20870Thr)

SNV
Germline

Chr2:178589116

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992202

rs_376338324

4 SubmittersRCV000267175 RCV000302699 RCV000309790 RCV000365491 RCV000390976 RCV001564075

NM_001267550.2(TTN):c.58371C>T (p.Tyr19457=)

SNV
Germline

Chr2:178594022

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992873

rs_749167827

2 SubmittersRCV000341818 RCV000284440 RCV000286798 RCV000346376 RCV000371877 RCV002323538

NM_001267550.2(TTN):c.56761C>T (p.Leu18921=)

SNV
Germline

Chr2:178598949

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993186

rs_769824680

2 SubmittersRCV000274902 RCV000276033 RCV000333382 RCV000318094 RCV000363749 RCV003298388

NM_001267550.2(TTN):c.46884G>A (p.Lys15628=)

SNV
Germline

Chr2:178618666

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995156

rs_760251812

4 SubmittersRCV000269951 RCV000273542 RCV000314523 RCV000325000 RCV000385186 RCV000842277 RCV001437186 RCV002418195

NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys)

SNV
Germline

Chr2:178620542

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Inborn genetic diseases
Tibial muscular dystrophy
Condition: not provided
not specified
TTN-related disorder
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1995326

rs_367774903

13 SubmittersRCV000289901 RCV000295707 RCV000324930 RCV000339962 RCV000554905 RCV000622371 RCV000381963 RCV001528437 RCV005404510 RCV004735479 RCV001798787

NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg)

SNV
Germline

Chr2:178624681

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1995602

rs_144848584

5 SubmittersRCV000271481 RCV000277289 RCV000328849 RCV000376613 RCV000363601 RCV000732908 RCV001479457 RCV003317194

NM_001267550.2(TTN):c.39465G>A (p.Val13155=)

SNV
Germline

Chr2:178651535

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10612082

rs_886055279

2 SubmittersRCV000262867 RCV000276165 RCV000298100 RCV000311435 RCV000370711 RCV001485167

NM_001267550.2(TTN):c.39044-15C>T

SNV
Germline

Chr2:178652556

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1996887

rs_749495580

3 SubmittersRCV000280121 RCV000333308 RCV000335130 RCV000387863 RCV000386517 RCV000606069 RCV002521348

NM_001267550.2(TTN):c.32954G>C (p.Arg10985Pro)

SNV
Germline

Chr2:178682837

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998485

rs_181395238

4 SubmittersRCV000281197 RCV000296455 RCV000335141 RCV000338547 RCV000388328 RCV000466619 RCV000598451 RCV001534640

NM_001267550.2(TTN):c.31857A>G (p.Val10619=)

SNV
Germline

Chr2:178689585

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10612087

rs_886055286

2 SubmittersRCV000296798 RCV000316788 RCV000351614 RCV000372542 RCV000375924 RCV005209503

NM_001267550.2(TTN):c.22473C>T (p.Cys7491=)

SNV
Germline

Chr2:178722314

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000833

rs_566454891

3 SubmittersRCV000278054 RCV000303166 RCV000337818 RCV000357914 RCV000393020 RCV000868462 RCV001672566

NM_001267550.2(TTN):c.15408G>A (p.Ser5136=)

SNV
Germline

Chr2:178734416

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002230

rs_761269554

4 SubmittersRCV000299401 RCV000305500 RCV000353276 RCV000395789 RCV000401034 RCV001412070 RCV002469132 RCV003311763

NM_001267550.2(TTN):c.10191C>A (p.Asp3397Glu)

SNV
Germline

Chr2:178759096

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA2004154

rs_773862320

1 SubmittersRCV000269589 RCV000282834 RCV000327007 RCV000371165 RCV000321505

NM_001267550.2(TTN):c.10164G>T (p.Arg3388=)

SNV
Germline

Chr2:178759123

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004158

rs_542799064

4 SubmittersRCV000280645 RCV000286304 RCV000334518 RCV000378395 RCV000406132 RCV002057626 RCV004021786 RCV005425934

NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met)

SNV
Germline

Chr2:178767882

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004349

rs_760230943

4 SubmittersRCV000283233 RCV000307509 RCV000347546 RCV000362254 RCV000402676 RCV000756845 RCV002446594

NM_001267550.2(TTN):c.7368G>C (p.Val2456=)

SNV
Germline

Chr2:178773688

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10612098

rs_886055301

3 SubmittersRCV000282788 RCV000291912 RCV000344498 RCV000383137 RCV000405850 RCV003765927 RCV005502787

NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys)

SNV
Germline

Chr2:178774306

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2004931

rs_776478343

2 SubmittersRCV000292190 RCV000328902 RCV000381242 RCV000332462 RCV000388836 RCV000678757

NM_001267550.2(TTN):c.6768G>A (p.Thr2256=)

SNV
Germline

Chr2:178774943

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10612101

rs_886055302

2 SubmittersRCV000272767 RCV000303571 RCV000361742 RCV000365228 RCV000406022 RCV003765928

NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp)

SNV
Germline

Chr2:178776791

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2005224

rs_770902874

6 SubmittersRCV000273247 RCV000274321 RCV000328235 RCV000334036 RCV000363172 RCV000730583 RCV005404515

NM_001267550.2(TTN):c.3380+12G>T

SNV
Germline

Chr2:178782200

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10612114

rs_775071824

2 SubmittersRCV000281240 RCV000289971 RCV000319950 RCV000373414 RCV000376968 RCV001850794

NM_001267550.2(TTN):c.3132C>T (p.Ala1044=)

SNV
Germline

Chr2:178782571

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005628

rs_777315600

7 SubmittersRCV000280601 RCV000284731 RCV000335621 RCV000339783 RCV000392130 RCV000600087 RCV000865316 RCV001727691 RCV002436188

NM_001267550.2(TTN):c.2370+9A>G

SNV
Germline

Chr2:178785839

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2005845

rs_373443384

3 SubmittersRCV000301265 RCV000314577 RCV000354328 RCV000369290 RCV000405227 RCV001462549 RCV004530336

NM_001267550.2(TTN):c.1398+9G>A

SNV
Germline

Chr2:178794390

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2006069

rs_368350210

3 SubmittersRCV000274930 RCV000276283 RCV000315059 RCV000327668 RCV000367407 RCV000610278 RCV000642977

NM_001267550.2(TTN):c.*1015A>G

SNV
Germline

Chr2:178525997

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10612987

rs_72629798

1 SubmittersRCV000304918 RCV000374509 RCV000335175 RCV000341090 RCV000396057

NM_001267550.2(TTN):c.*59G>A

SNV
Germline

Chr2:178526953

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10612995

rs_72629795

1 SubmittersRCV000259324 RCV000286734 RCV000316779 RCV000339369 RCV000378394

NM_001267550.2(TTN):c.106020T>C (p.Gly35340=)

SNV
Germline

Chr2:178530595

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985178

rs_148865574

4 SubmittersRCV000290412 RCV000313097 RCV000347759 RCV000396451 RCV000396464 RCV000533314 RCV001558153 RCV004992178

NM_001267550.2(TTN):c.105406C>T (p.Arg35136Trp)

SNV
Germline

Chr2:178531209

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985267

rs_372875128

3 SubmittersRCV000273903 RCV000298551 RCV000313614 RCV000355738 RCV000396822 RCV000607925 RCV003137936

NM_001267550.2(TTN):c.104591C>T (p.Pro34864Leu)

SNV
Germline

Chr2:178532024

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985394

rs_72629788

3 SubmittersRCV000284557 RCV000281470 RCV000324787 RCV000375453 RCV000379364 RCV002402053 RCV003137938

NM_001267550.2(TTN):c.103993C>G (p.Leu34665Val)

SNV
Germline

Chr2:178532622

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985506

rs_370890922

3 SubmittersRCV000289473 RCV000274660 RCV000380443 RCV000327506 RCV000384361 RCV002402055 RCV001565339

NM_001267550.2(TTN):c.102287C>A (p.Thr34096Asn)

SNV
Germline

Chr2:178534328

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985774

rs_375002174

4 SubmittersRCV000264386 RCV000272777 RCV000308202 RCV000327987 RCV000362783 RCV000518469

NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val)

SNV
Germline

Chr2:178535324

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985903

rs_773542514

7 SubmittersRCV000269466 RCV000284570 RCV000329031 RCV000378783 RCV000727776 RCV002379220 RCV000383573 RCV001798783

NM_001267550.2(TTN):c.99310C>T (p.Arg33104Cys)

SNV
Germline

Chr2:178537897

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1986202

rs_766169253

5 SubmittersRCV000275493 RCV000330323 RCV000315284 RCV000357183 RCV000370099 RCV000475410 RCV001798785 RCV001508100 RCV003335307

NM_001267550.2(TTN):c.99239G>A (p.Gly33080Glu)

SNV
Germline

Chr2:178538590

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1986235

rs_762905152

1 SubmittersRCV000287133 RCV000283070 RCV000323273 RCV000317378 RCV000372278

NM_001267550.2(TTN):c.97643G>A (p.Arg32548His)

SNV
Germline

Chr2:178541434

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Condition: not provided
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA1986512

rs_55676195

9 SubmittersRCV000292301 RCV000281590 RCV000334395 RCV000349601 RCV002374563 RCV000389059 RCV005404506 RCV001544655 RCV005896011

NM_001267550.2(TTN):c.94599T>C (p.Asp31533=)

SNV
Germline

Chr2:178546829

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987094

rs_764363274

4 SubmittersRCV000284524 RCV000324430 RCV000340044 RCV000378998 RCV000395826 RCV001393465 RCV003114492 RCV003278775

NM_001267550.2(TTN):c.92506A>C (p.Thr30836Pro)

SNV
Germline

Chr2:178549120

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1987436

rs_762590394

4 SubmittersRCV000279338 RCV000349657 RCV000350645 RCV000371523 RCV000405703 RCV000871575 RCV004544610

NM_001267550.2(TTN):c.92454C>T (p.Pro30818=)

SNV
Germline

Chr2:178549172

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10613032

rs_771773845

4 SubmittersRCV000305866 RCV000307101 RCV000345585 RCV000395449 RCV000399321 RCV002057615 RCV003168502 RCV005404507

NM_001267550.2(TTN):c.90652A>G (p.Thr30218Ala)

SNV
Germline

Chr2:178552248

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1987762

rs_768528782

1 SubmittersRCV000312839 RCV000314139 RCV000338390 RCV000349241 RCV000406601

NM_001267550.2(TTN):c.88134A>G (p.Pro29378=)

SNV
Germline

Chr2:178557020

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1988192

rs_374612925

7 SubmittersRCV000276661 RCV000311836 RCV000356207 RCV000368821 RCV000394705 RCV000470428 RCV000728173 RCV001613083 RCV002356451 RCV004735476

NM_001267550.2(TTN):c.86259A>G (p.Leu28753=)

SNV
Germline

Chr2:178559873

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10613037

rs_886055233

3 SubmittersRCV000259283 RCV000283979 RCV000321288 RCV000354223 RCV000378376 RCV003226283 RCV002521344

NM_001267550.2(TTN):c.85383T>C (p.Asn28461=)

SNV
Germline

Chr2:178560749

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10613048

rs_886055235

3 SubmittersRCV000268848 RCV000293446 RCV000333216 RCV000348319 RCV000387727 RCV001471987 RCV006342237

NM_001267550.2(TTN):c.80586C>T (p.Ser26862=)

SNV
Germline

Chr2:178565546

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989326

rs_748292845

5 SubmittersRCV000278202 RCV000312374 RCV000367597 RCV000399453 RCV000401256 RCV000445100 RCV000727491 RCV001086740 RCV002348080

NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp)

SNV
Germline

Chr2:178567226

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA1989554

rs_534003014

13 SubmittersRCV000288225 RCV000327544 RCV000333541 RCV000384466 RCV000385670 RCV000467844 RCV000516790 RCV000731987 RCV001798786 RCV002338920 RCV005025470

NM_001267550.2(TTN):c.78401G>A (p.Arg26134His)

SNV
Germline

Chr2:178567731

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1989607

rs_377668457

4 SubmittersRCV000282564 RCV000336442 RCV000337388 RCV000372311 RCV000380556 RCV002348081 RCV003137944 RCV005025471

NM_001267550.2(TTN):c.75969T>C (p.Val25323=)

SNV
Germline

Chr2:178570163

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989975

rs_368759398

6 SubmittersRCV000283572 RCV000289220 RCV000328072 RCV000333780 RCV000381301 RCV000427377 RCV000866981 RCV002328851 RCV003137945

NM_001267550.2(TTN):c.75378T>A (p.Gly25126=)

SNV
Germline

Chr2:178570754

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10613076

rs_886055246

3 SubmittersRCV000271308 RCV000324462 RCV000328742 RCV000363785 RCV000376431 RCV002057619 RCV002338922

NM_001267550.2(TTN):c.75158G>C (p.Trp25053Ser)

SNV
Germline

Chr2:178570974

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1990091

rs_748412838

3 SubmittersRCV000264049 RCV000268546 RCV000316644 RCV000359836 RCV000373706 RCV003137946 RCV006263879

NM_001267550.2(TTN):c.73563C>G (p.Gly24521=)

SNV
Germline

Chr2:178572569

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1990351

rs_756809007

3 SubmittersRCV000290915 RCV000315489 RCV000345857 RCV000369773 RCV000406615 RCV002338924 RCV002057620

NM_001267550.2(TTN):c.65416C>T (p.Arg21806Trp)

SNV
Germline

Chr2:178583766

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1991705

rs_778703530

5 SubmittersRCV000282443 RCV000297889 RCV000337522 RCV000408175 RCV000408183 RCV002356454 RCV002487471 RCV003488550 RCV005404509

NM_001267550.2(TTN):c.56595T>C (p.Tyr18865=)

SNV
Germline

Chr2:178599198

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10613088

rs_886055261

2 SubmittersRCV000278078 RCV000335442 RCV000339118 RCV000375037 RCV000378631 RCV001434068

NM_001267550.2(TTN):c.56264G>A (p.Arg18755His)

SNV
Germline

Chr2:178599637

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993284

rs_772767570

3 SubmittersRCV000261492 RCV000283675 RCV000384286 RCV000323509 RCV002436187 RCV000841748 RCV000380363

NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser)

SNV
Germline

Chr2:178605140

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993706

rs_531242797

5 SubmittersRCV000261639 RCV000297342 RCV000350885 RCV000356804 RCV000395016 RCV000868806 RCV001551202 RCV002450900

NM_001267550.2(TTN):c.48054C>T (p.Ala16018=)

SNV
Germline

Chr2:178616835

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1994923

rs_779940754

3 SubmittersRCV000307343 RCV000306033 RCV000347059 RCV000364155 RCV000441561 RCV000405787 RCV002057622

NM_001267550.2(TTN):c.47402C>T (p.Thr15801Ile)

SNV
Germline

Chr2:178617949

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1995050

rs_148808516

1 SubmittersRCV000266276 RCV000361890 RCV000321133 RCV000365565 RCV000310773

NM_001267550.2(TTN):c.46773T>C (p.Tyr15591=)

SNV
Germline

Chr2:178618777

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10613113

rs_397517586

2 SubmittersRCV000260380 RCV000280843 RCV000315704 RCV000374957 RCV000378459 RCV005222899

NM_001267550.2(TTN):c.40634-9A>G

SNV
Germline

Chr2:178640639

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1996423

rs_373511249

6 SubmittersRCV000264192 RCV000304053 RCV000322272 RCV000352942 RCV000408205 RCV000555009 RCV000607770 RCV001718703 RCV004544612

NM_001267550.2(TTN):c.34201G>A (p.Glu11401Lys)

SNV
Germline

Chr2:178677711

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1998122

rs_765827814

4 SubmittersRCV000308885 RCV000362500 RCV000367572 RCV000398800 RCV000399587 RCV000596957 RCV000642974

NM_001267550.2(TTN):c.32881A>G (p.Ile10961Val)

SNV
Germline

Chr2:178683217

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA10613118

rs_886055284

2 SubmittersRCV000342253 RCV000307184 RCV000303687 RCV000398692 RCV000364327 RCV000609781

NC_000002.12:g.178692011C>T

SNV
Germline

Chr2:178692011

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1998860

rs_145387989

4 SubmittersRCV000274853 RCV000330018 RCV000333420 RCV000387922 RCV000384577 RCV000555758 RCV001546516 RCV003235193

NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe)

SNV
Germline

Chr2:178693979

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998946

rs_772882862

5 SubmittersRCV000283258 RCV000298390 RCV000338121 RCV000578113 RCV000577995 RCV000836499

NM_001267550.2(TTN):c.28542G>A (p.Glu9514=)

SNV
Germline

Chr2:178709777

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999574

rs_370604793

4 SubmittersRCV000312837 RCV000314113 RCV000394331 RCV000528891 RCV000338482 RCV000367535 RCV003330642 RCV001718704

NM_001267550.2(TTN):c.28104A>G (p.Ala9368=)

SNV
Germline

Chr2:178711132

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10613147

rs_886055291

2 SubmittersRCV000259425 RCV000293543 RCV000319321 RCV000373879 RCV000388787 RCV001484151

NM_001267550.2(TTN):c.27856G>T (p.Val9286Phe)

SNV
Germline

Chr2:178711974

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1999715

rs_777547707

1 SubmittersRCV000263381 RCV000302666 RCV000395631 RCV000353530 RCV000362104

NM_001267550.2(TTN):c.27654T>G (p.Val9218=)

SNV
Germline

Chr2:178712176

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999748

rs_780101457

4 SubmittersRCV000284160 RCV000285128 RCV000328627 RCV000339169 RCV000405812 RCV000878877 RCV001697675

NM_001267550.2(TTN):c.25640-4A>G

SNV
Germline

Chr2:178715778

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10613154

rs_886055292

2 SubmittersRCV000287558 RCV000293376 RCV000348460 RCV000351807 RCV000407195 RCV003765926

NM_001267550.2(TTN):c.24157G>A (p.Gly8053Ser)

SNV
Germline

Chr2:178719233

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000493

rs_374167223

3 SubmittersRCV000286579 RCV000290510 RCV000347856 RCV000378580 RCV000378033 RCV000997528

NM_001267550.2(TTN):c.24039G>A (p.Pro8013=)

SNV
Germline

Chr2:178719351

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA2000508

rs_768390615

3 SubmittersRCV000261521 RCV000301251 RCV000323594 RCV000354024 RCV000362001 RCV002057625 RCV005404511

NM_001267550.2(TTN):c.20680G>C (p.Val6894Leu)

SNV
Germline

Chr2:178725524

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA2001169

rs_774362265

3 SubmittersRCV000267277 RCV000266393 RCV000321469 RCV000376061 RCV000381693 RCV005404512

NM_001267550.2(TTN):c.16275G>A (p.Gly5425=)

SNV
Germline

Chr2:178732901

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2002064

rs_772821743

4 SubmittersRCV000289802 RCV000340159 RCV000343861 RCV000397399 RCV000395707 RCV000458923 RCV001464347

NM_001267550.2(TTN):c.15831C>T (p.Pro5277=)

SNV
Germline

Chr2:178733462

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002143

rs_780784090

3 SubmittersRCV000294245 RCV000314219 RCV000349242 RCV000343781 RCV000397496 RCV001427751 RCV004546484

NM_001267550.2(TTN):c.14788C>G (p.Pro4930Ala)

SNV
Germline

Chr2:178735658

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2002346

rs_201744218

4 SubmittersRCV000263978 RCV000267738 RCV000321422 RCV000378610 RCV000475236 RCV000372773 RCV000597375 RCV005404513

NM_001267550.2(TTN):c.5001T>C (p.Tyr1667=)

SNV
Germline

Chr2:178776863

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2005232

rs_540957547

2 SubmittersRCV000287007 RCV000345110 RCV000346254 RCV000403055 RCV000407728 RCV001448278

NM_001267550.2(TTN):c.4668G>A (p.Pro1556=)

SNV
Germline

Chr2:178777295

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005281

rs_145709534

6 SubmittersRCV000290369 RCV000289346 RCV000350269 RCV000384922 RCV000391245 RCV000424425 RCV000547699 RCV002338926

NM_001267550.2(TTN):c.3522A>C (p.Glu1174Asp)

SNV
Germline

Chr2:178781122

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2005539

rs_545280886

1 SubmittersRCV000274044 RCV000316361 RCV000369729 RCV000331363 RCV000366306

NM_001267550.2(TTN):c.*587T>A

SNV
Germline

Chr2:178526425

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10613196

rs_114788736

2 SubmittersRCV000297685 RCV000394247 RCV000337437 RCV000352395 RCV000402321 RCV001836806

NM_001267550.2(TTN):c.106926C>T (p.Gly35642=)

SNV
Germline

Chr2:178528825

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1985024

rs_761965591

4 SubmittersRCV000304393 RCV000339047 RCV000345257 RCV000396167 RCV000396160 RCV001405894 RCV002411225 RCV004530328

NM_001267550.2(TTN):c.106293T>C (p.Val35431=)

SNV
Germline

Chr2:178530322

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1985134

rs_749108651

4 SubmittersRCV000306472 RCV000366772 RCV000363522 RCV000396665 RCV000398905 RCV001434895 RCV002418194 RCV005628248

NM_001267550.2(TTN):c.104564C>A (p.Ser34855Tyr)

SNV
Germline

Chr2:178532051

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10613205

rs_886055222

3 SubmittersRCV000266350 RCV000306321 RCV000348091 RCV000361010 RCV000394509 RCV001038472 RCV003486815

NM_001267550.2(TTN):c.103992C>G (p.Leu34664=)

SNV
Germline

Chr2:178532623

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1985507

rs_375120372

5 SubmittersRCV000283446 RCV000334897 RCV000340772 RCV000404694 RCV000406553 RCV001700063 RCV001726129 RCV002402056 RCV002521343

NM_001267550.2(TTN):c.95829A>G (p.Gly31943=)

SNV
Germline

Chr2:178544400

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986868

rs_572618111

4 SubmittersRCV000263135 RCV000266669 RCV000323963 RCV000301954 RCV000355650 RCV000597226 RCV004992179

NM_001267550.2(TTN):c.91373G>A (p.Ser30458Asn)

SNV
Germline

Chr2:178551158

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987639

rs_376634713

4 SubmittersRCV000262504 RCV000296494 RCV000331575 RCV000332733 RCV000386114 RCV002365395 RCV001570054

NM_001267550.2(TTN):c.88992T>C (p.Asp29664=)

SNV
Germline

Chr2:178554119

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10613213

rs_201658018

3 SubmittersRCV000313083 RCV000335374 RCV000338706 RCV000373666 RCV000406194 RCV001475903 RCV004992180

NM_001267550.2(TTN):c.87329C>T (p.Ala29110Val)

SNV
Germline

Chr2:178558025

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1988331

rs_763682832

1 SubmittersRCV000344377 RCV000309482 RCV000296535 RCV000404617 RCV000388467

NM_001267550.2(TTN):c.86983G>A (p.Ala28995Thr)

SNV
Germline

Chr2:178558476

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988398

rs_774191975

6 SubmittersRCV000303011 RCV000343285 RCV000357853 RCV000394606 RCV000471925 RCV000404006 RCV001531503

NM_001267550.2(TTN):c.85541A>T (p.Lys28514Met)

SNV
Germline

Chr2:178560591

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA10613227

rs_886055234

2 SubmittersRCV000298686 RCV000311566 RCV000406628 RCV000841325 RCV000338451 RCV000353682

NM_001267550.2(TTN):c.83985C>T (p.Asn27995=)

SNV
Germline

Chr2:178562147

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988850

rs_766611189

3 SubmittersRCV000268003 RCV000320829 RCV000359126 RCV000360095 RCV000404020 RCV000868107 RCV005298481

NM_001267550.2(TTN):c.83979T>C (p.Thr27993=)

SNV
Germline

Chr2:178562153

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1988852

rs_755164013

2 SubmittersRCV000271528 RCV000276369 RCV000325539 RCV000386022 RCV000382436 RCV002057616

NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu)

SNV
Germline

Chr2:178563400

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1989024

rs_368850871

4 SubmittersRCV000314233 RCV000336400 RCV000356273 RCV000406935 RCV000592500 RCV000406888

NM_001267550.2(TTN):c.81523G>A (p.Gly27175Ser)

SNV
Germline

Chr2:178564609

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1989198

rs_749305586

1 SubmittersRCV000261667 RCV000354170 RCV000319078 RCV000315436 RCV000368850

NM_001267550.2(TTN):c.80145C>G (p.Val26715=)

SNV
Germline

Chr2:178565987

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989386

rs_761074887

4 SubmittersRCV000285641 RCV000331440 RCV000343928 RCV000382160 RCV000383423 RCV000769936 RCV003765922 RCV005298482

NM_001267550.2(TTN):c.76296T>C (p.Asp25432=)

SNV
Germline

Chr2:178569836

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10613247

rs_868081432

3 SubmittersRCV000295472 RCV000294111 RCV000330523 RCV000345752 RCV000389701 RCV000593016 RCV002057618

NM_001267550.2(TTN):c.68450G>A (p.Arg22817Gln)

SNV
Germline

Chr2:178578065

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1991104

rs_372496072

3 SubmittersRCV000308799 RCV000315369 RCV000362380 RCV000368859 RCV000406257 RCV004999327 RCV006458280

NM_001267550.2(TTN):c.68391G>A (p.Pro22797=)

SNV
Germline

Chr2:178578124

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1991113

rs_368985748

8 SubmittersRCV000288345 RCV000287389 RCV000342338 RCV000377156 RCV000382759 RCV000616130 RCV001426889 RCV001726130 RCV002323537 RCV003486816

NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg)

SNV
Germline

Chr2:178583772

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991706

rs_745626132

5 SubmittersRCV000273244 RCV000310901 RCV000325941 RCV000365624 RCV000404582 RCV000643671 RCV003335308 RCV002365396

NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe)

SNV
Germline

Chr2:178590449

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1992388

rs_377529060

7 SubmittersRCV000265408 RCV000306892 RCV000310552 RCV000358355 RCV000398857 RCV000557466 RCV001375616 RCV002460068 RCV003137950 RCV003486817 RCV004544611

NM_001267550.2(TTN):c.59573C>T (p.Thr19858Ile)

SNV
Germline

Chr2:178592432

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1992645

rs_757911359

1 SubmittersRCV000299263 RCV000351980 RCV000387777 RCV000348294 RCV000401570

NC_000002.12:g.178605717T>C

SNV
Germline

Chr2:178605717

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993774

rs_772324772

4 SubmittersRCV000294104 RCV000328665 RCV000330362 RCV000383846 RCV000389516 RCV000727849 RCV000642881 RCV004678682

NM_001267550.2(TTN):c.49988T>C (p.Ile16663Thr)

SNV
Germline

Chr2:178612537

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994456

rs_774556838

4 SubmittersRCV000281175 RCV000313592 RCV000336193 RCV000396494 RCV000403902 RCV003486819 RCV004735478 RCV006277800

NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)

SNV
Germline

Chr2:178614134

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994642

rs_376188859

8 SubmittersRCV000300967 RCV000302290 RCV000340868 RCV000353745 RCV000405891 RCV000734070 RCV001079002 RCV001723920 RCV002429296

NM_001267550.2(TTN):c.48024G>T (p.Arg16008=)

SNV
Germline

Chr2:178616865

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1994926

rs_780824428

2 SubmittersRCV000259842 RCV000265830 RCV000299870 RCV000357009 RCV000358516 RCV002057623

NM_001267550.2(TTN):c.46483G>A (p.Ala15495Thr)

SNV
Germline

Chr2:178619834

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995229

rs_537428006

3 SubmittersRCV000287871 RCV000295969 RCV000351115 RCV000385804 RCV000407698 RCV000869607 RCV003137953

NM_001267550.2(TTN):c.45054G>A (p.Ala15018=)

SNV
Germline

Chr2:178621868

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995513

rs_781392140

5 SubmittersRCV000262626 RCV000268335 RCV000320230 RCV000360752 RCV000355134 RCV000457525 RCV001798788 RCV002402057 RCV003137954

NM_001267550.2(TTN):c.34062A>G (p.Glu11354=)

SNV
Germline

Chr2:178677850

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10613325

rs_886055281

3 SubmittersRCV000282323 RCV000285991 RCV000321228 RCV000343351 RCV000378201 RCV000431074 RCV001432705

NM_001267550.2(TTN):c.32011+15T>G

SNV
Germline

Chr2:178689275

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA10613331

rs_886055285

3 SubmittersRCV000309321 RCV000312666 RCV000349105 RCV000352495 RCV000396858 RCV002523097 RCV003226284

NM_001267550.2(TTN):c.31764C>T (p.Val10588=)

SNV
Germline

Chr2:178689895

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10613337

rs_766441395

2 SubmittersRCV000264759 RCV000301235 RCV000304548 RCV000359235 RCV000396495 RCV000643184

NM_001267550.2(TTN):c.21273A>G (p.Gln7091=)

SNV
Germline

Chr2:178723986

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA10613346

rs_878903172

3 SubmittersRCV000282337 RCV000285701 RCV000317781 RCV000339703 RCV000374677 RCV000592244 RCV001436657

NM_001267550.2(TTN):c.16743T>C (p.Asp5581=)

SNV
Germline

Chr2:178732226

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA2001982

rs_754798297

3 SubmittersRCV000264269 RCV000272606 RCV000324003 RCV000377541 RCV000378629 RCV001447964 RCV005238920

NM_001267550.2(TTN):c.16563A>C (p.Thr5521=)

SNV
Germline

Chr2:178732498

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10613351

rs_886055297

2 SubmittersRCV000295528 RCV000310643 RCV000345720 RCV000365515 RCV000399838 RCV001454068

NM_001267550.2(TTN):c.9267G>A (p.Gln3089=)

SNV
Germline

Chr2:178768052

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA2004393

rs_764189986

4 SubmittersRCV000261223 RCV000285887 RCV000322086 RCV000376739 RCV000380285 RCV000960943 RCV002374564 RCV005404514

NM_001267550.2(TTN):c.7891G>A (p.Val2631Ile)

SNV
Germline

Chr2:178771436

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2004717

rs_766753906

4 SubmittersRCV000301851 RCV000338450 RCV000341719 RCV000396832 RCV000405608 RCV001582975 RCV005407066

NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser)

SNV
Germline

Chr2:178774012

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004888

rs_777101912

3 SubmittersRCV000413035 RCV001494675 RCV006445824

NM_001267550.2(TTN):c.4322G>A (p.Arg1441His)

SNV
Germline

Chr2:178777862

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005336

rs_72647876

4 SubmittersRCV000272567 RCV000307752 RCV000330032 RCV000361649 RCV000364736 RCV000643285 RCV001844128 RCV004999328

NM_001267550.2(TTN):c.583+4C>T

SNV
Germline

Chr2:178800391

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006298

rs_764670848

5 SubmittersRCV000268668 RCV000313425 RCV000313077 RCV000363475 RCV000828353 RCV000643901 RCV000408298 RCV002356455

NM_001130987.2(DYSF):c.225G>A (p.Thr75=)

SNV
Germline

Chr2:71481956

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705260

rs_200957354

6 SubmittersRCV000591502 RCV000711551 RCV001080690 RCV001276713

NM_001130987.2(DYSF):c.1917G>A (p.Gly639=)

SNV
Germline

Chr2:71553121

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705978

rs_769518034

3 SubmittersRCV000871697 RCV001271781

NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)

SNV
Germline

Chr2:71611314

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706842

rs_145401010

6 SubmittersRCV000419423 RCV001080538 RCV001272842 RCV001753802

NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala)

SNV
Germline

Chr2:71612671

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Conflicting Classifications

CA1706942

rs_151268930

10 SubmittersRCV000517870 RCV000727268 RCV001083961 RCV001274832 RCV004751483 RCV005033872

NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)

SNV
Germline

Chr2:71513880

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705427

rs_150029218

6 SubmittersRCV000732976 RCV000553818 RCV001276721

NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)

SNV
Germline

Chr2:71551713

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1705931

rs_546679270

7 SubmittersRCV000665544 RCV000727415 RCV001080579

NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile)

SNV
Germline

Chr2:71589632

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706568

rs_148925399

5 SubmittersRCV000727170 RCV001140788 RCV001276443

NM_001130987.2(DYSF):c.4464+7T>C

SNV
Germline

Chr2:71613417

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707013

rs_369949055

4 SubmittersRCV000876154 RCV001274841 RCV003144232

NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val)

SNV
Germline

Chr2:71528391

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705708

rs_146588926

4 SubmittersRCV000705827 RCV001828331 RCV005632375

NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn)

SNV
Germline

Chr2:71644045

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707061

rs_182185801

4 SubmittersRCV001138012 RCV001828334 RCV003144233

NM_000337.5(SGCD):c.-135C>T

SNV
Germline

Chr5:156327141

Conflicting classifications of pathogenicity

Qualitative or quantitative defects of delta-sarcoglycan
Autosomal recessive limb-girdle muscular dystrophy type 2F
Dilated cardiomyopathy 1L
Dilated cardiomyopathy 1L
Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Conflicting Classifications

CA10621019

rs_886060284

3 SubmittersRCV000360360 RCV003233549 RCV003233550 RCV002488776

NM_000232.5(SGCB):c.34-9C>A

SNV
Germline

Chr4:52033649

Conflicting classifications of pathogenicity

Qualitative or quantitative defects of beta-sarcoglycan
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA10621146

rs_886059439

2 SubmittersRCV000397117 RCV000960345

NM_000232.5(SGCB):c.798C>A (p.Thr266=)

SNV
Germline

Chr4:52024116

Conflicting classifications of pathogenicity

Qualitative or quantitative defects of beta-sarcoglycan
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA2918273

rs_182784793

2 SubmittersRCV000381471 RCV000932808

NM_058246.4(DNAJB6):c.347-14A>T

SNV
Germline

Chr7:157382232

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA4590497

rs_368036062

2 SubmittersRCV000278742

NM_058246.4(DNAJB6):c.723G>A (p.Glu241=)

SNV
Germline

Chr7:157409826

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA10623549

rs_886062129

2 SubmittersRCV000268871

NM_000337.6(SGCD):c.510G>A (p.Glu170=)

SNV
Germline

Chr5:156647471

Conflicting classifications of pathogenicity

Qualitative or quantitative defects of delta-sarcoglycan
not specified
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2F
Inborn genetic diseases
SGCD-related disorder

Criteria Provided
Conflicting Classifications

CA3530620

rs_368838376

10 SubmittersRCV000392260 RCV000424458 RCV000731143 RCV000770208 RCV001084791 RCV003168546 RCV003970028

NM_058246.4(DNAJB6):c.*610C>T

SNV
Germline

Chr7:157416708

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10625617

rs_886062134

2 SubmittersRCV000283865 RCV003311781

NM_001077365.2(POMT1):c.1101C>T (p.Ser367=)

SNV
Germline

Chr9:131513257

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA5293537

rs_771523115

2 SubmittersRCV000393902 RCV003766098

NM_001077365.2(POMT1):c.*635T>G

SNV
Germline

Chr9:131523741

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10626607

rs_112845474

3 SubmittersRCV000379924 RCV002512099

NM_058246.4(DNAJB6):c.*934C>T

SNV
Germline

Chr7:157417032

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10628603

rs_886062136

2 SubmittersRCV000406773 RCV003311782

NM_001101426.4(CRPPA):c.684+12G>A

SNV
Germline

Chr7:16376080

Conflicting classifications of pathogenicity

Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Conflicting Classifications

CA10628802

rs_376232862

2 SubmittersRCV000387775 RCV002229906

NM_001101426.4(CRPPA):c.360C>G (p.Val120=)

SNV
Germline

Chr7:16406235

Conflicting classifications of pathogenicity

Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
Condition: not provided
CRPPA-related disorder

Criteria Provided
Conflicting Classifications

CA4169626

rs_183141256

4 SubmittersRCV000340702 RCV000876693 RCV003311783 RCV004530450

NM_001077365.2(POMT1):c.1461C>T (p.Asn487=)

SNV
Germline

Chr9:131518932

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA5293702

rs_373482514

3 SubmittersRCV000359663 RCV000878229 RCV004999355

NM_001077365.2(POMT1):c.*338T>G

SNV
Germline

Chr9:131523444

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10629167

rs_193003183

2 SubmittersRCV000368478 RCV003422369

NM_001079802.2(FKTN):c.397A>G (p.Met133Val)

SNV
Germline

Chr9:105604242

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Criteria Provided
Conflicting Classifications

CA5170401

rs_569778463

3 SubmittersRCV000634069 RCV005044591

NM_001077365.2(POMT1):c.36G>A (p.Thr12=)

SNV
Germline

Chr9:131504254

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA5293133

rs_201262353

3 SubmittersRCV000324548 RCV000591419 RCV001504471

NM_001077365.2(POMT1):c.1323A>C (p.Ser441=)

SNV
Germline

Chr9:131518495

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA5293655

rs_753403833

2 SubmittersRCV000359812 RCV000902767

NM_001077365.2(POMT1):c.*25C>T

SNV
Germline

Chr9:131523131

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5293956

rs_115818625

2 SubmittersRCV000339282 RCV001597127

NM_001077365.2(POMT1):c.1486+14G>A

SNV
Germline

Chr9:131518971

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA5293718

rs_142995404

4 SubmittersRCV000329347 RCV000429135 RCV001334644 RCV002058780

NM_213599.3(ANO5):c.1801-9T>C

SNV
Germline

Chr11:22262937

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
ANO5-Related Muscle Diseases
ANO5-related disorder

Criteria Provided
Conflicting Classifications

CA5923365

rs_202034123

4 SubmittersRCV000732775 RCV001078627 RCV001108797 RCV004537713

NM_013382.7(POMT2):c.924-6C>T

SNV
Germline

Chr14:77298777

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA7286042

rs_764462802

2 SubmittersRCV000282331 RCV002061167

NM_213599.3(ANO5):c.88-14C>T

SNV
Germline

Chr11:22211250

Conflicting classifications of pathogenicity

ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA10638161

rs_770721931

2 SubmittersRCV001108711 RCV002056195

NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly)

SNV
Germline

Chr11:22270337

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA5923408

rs_146341538

9 SubmittersRCV000732855 RCV001089163 RCV001108799 RCV005355631 RCV006268718

NM_213599.3(ANO5):c.2139C>T (p.Thr713=)

SNV
Germline

Chr11:22272893

Conflicting classifications of pathogenicity

not specified
ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
ANO5-related disorder

Criteria Provided
Conflicting Classifications

CA5923464

rs_767479331

4 SubmittersRCV000606822 RCV001108800 RCV002056197 RCV004544512

NM_213599.3(ANO5):c.2317A>G (p.Met773Val)

SNV
Germline

Chr11:22274650

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Condition: not provided
ANO5-Related Muscle Diseases

Criteria Provided
Conflicting Classifications

CA5923523

rs_751028884

3 SubmittersRCV000552280 RCV000732428 RCV001103649

NM_000023.4(SGCA):c.158-11G>A

SNV
Germline

Chr17:50167571

Conflicting classifications of pathogenicity

Sarcoglycanopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
not specified

Criteria Provided
Conflicting Classifications

CA8643719

rs_140261054

4 SubmittersRCV000383595 RCV001718677 RCV002056609 RCV006458261

NM_000023.4(SGCA):c.158-10C>G

SNV
Germline

Chr17:50167572

Conflicting classifications of pathogenicity

Sarcoglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643721

rs_746675022

2 SubmittersRCV000289214 RCV001427583

NM_000023.4(SGCA):c.648C>T (p.Pro216=)

SNV
Germline

Chr17:50169155

Conflicting classifications of pathogenicity

Sarcoglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643854

rs_758813493

2 SubmittersRCV000404924 RCV001493911

NM_000334.4(SCN4A):c.2995G>A (p.Val999Met)

SNV
Germline

Chr17:63948760

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Condition: not provided
SCN4A-related disorder
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA8709421

rs_377277110

5 SubmittersRCV000270326 RCV000271110 RCV000332377 RCV000362158 RCV000555752 RCV002280115 RCV004537817 RCV005625549

NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser)

SNV
Germline

Chr14:77288829

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Conflicting Classifications

CA7285931

rs_764723711

6 SubmittersRCV000350044 RCV000658701 RCV000813923 RCV003352832 RCV006454673

NM_013382.7(POMT2):c.648C>T (p.Cys216=)

SNV
Germline

Chr14:77302843

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2N
not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided
POMT2-related disorder

Criteria Provided
Conflicting Classifications

CA7286138

rs_147871747

7 SubmittersRCV000304799 RCV000436791 RCV000878493 RCV001723900 RCV003897724

NM_013382.7(POMT2):c.553G>A (p.Gly185Arg)

SNV
Germline

Chr14:77302938

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10641113

rs_886050826

3 SubmittersRCV000393476 RCV002261048

NM_000070.3(CAPN3):c.-104G>C

SNV
Germline

Chr15:42359702

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10641815

rs_149698681

3 SubmittersRCV000391068 RCV000831632

NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr)

SNV
Germline

Chr15:42410889

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7511815

rs_148246325

5 SubmittersRCV000327631 RCV003144204

NM_013382.7(POMT2):c.*2151A>G

SNV
Germline

Chr14:77275225

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10645010

rs_45579739

2 SubmittersRCV000269482 RCV002510847

NM_013382.7(POMT2):c.1464G>A (p.Ser488=)

SNV
Germline

Chr14:77285501

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10645040

rs_375698520

3 SubmittersRCV000389619 RCV001324454 RCV004693198

NM_000070.3(CAPN3):c.590G>A (p.Arg197His)

SNV
Germline

Chr15:42387844

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA7511064

rs_768426565

5 SubmittersRCV000387421 RCV003144203 RCV003475931

NM_000070.3(CAPN3):c.618G>A (p.Glu206=)

SNV
Germline

Chr15:42387872

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511071

rs_541597520

2 SubmittersRCV000400417

NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln)

SNV
Germline

Chr15:42394271

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7511234

rs_146403258

3 SubmittersRCV000261355 RCV000485851

NM_000070.3(CAPN3):c.2088C>T (p.Ser696=)

SNV
Germline

Chr15:42409968

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA10646935

rs_867628179

3 SubmittersRCV000276252

NM_003673.4(TCAP):c.111-13C>T

SNV
Germline

Chr17:39665703

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2G
Hypertrophic cardiomyopathy 25
Hypertrophic cardiomyopathy 25
Primary familial hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA8532857

rs_773913117

2 SubmittersRCV000286584 RCV000379163 RCV005222891

NM_003673.4(TCAP):c.*76G>T

SNV
Germline

Chr17:39666185

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2G
Hypertrophic cardiomyopathy 25
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10649179

rs_45506294

4 SubmittersRCV000298043 RCV000399403 RCV001534969

NM_000023.4(SGCA):c.690G>A (p.Leu230=)

SNV
Germline

Chr17:50169197

Conflicting classifications of pathogenicity

Sarcoglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA10650513

rs_139454982

2 SubmittersRCV000301286 RCV002056610

NM_017739.4(POMGNT1):c.236-1G>T

SNV
Germline

Chr1:46196850

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA16040756

rs_1057516477

4 SubmittersRCV001377077 RCV003463789 RCV005018701

NM_000232.5(SGCB):c.622-2A>G

SNV
Germline

Chr4:52028101

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA2918334

rs_780596734

5 SubmittersRCV000411845

NM_000232.5(SGCB):c.85A>T (p.Arg29Ter)

SNV
Germline

Chr4:52033589

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA2918507

rs_747809412

2 SubmittersRCV000411828 RCV004999363

NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter)

SNV
Germline

Chr9:105596601

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2M

Criteria Provided
Multiple Submitters
No Conflicts

CA16041290

rs_773884973

3 SubmittersRCV000410928 RCV003754875 RCV005238958

NM_000023.4(SGCA):c.158-2A>G

SNV
Germline

Chr17:50167580

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA16041847

rs_1057516300

3 SubmittersRCV000409677

NM_000023.4(SGCA):c.313-2A>G

SNV
Germline

Chr17:50167945

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA16041848

rs_1057516650

4 SubmittersRCV000410516

NM_000023.4(SGCA):c.511C>T (p.Gln171Ter)

SNV
Unknown

Chr17:50168499

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA16041850

rs_1057516242

2 SubmittersRCV000410603

NM_000023.4(SGCA):c.580G>T (p.Glu194Ter)

SNV
Unknown

Chr17:50168568

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

No Assertion Criteria Provided

CA16041852

rs_1057516664

1 SubmittersRCV000411377

NM_152305.3(POGLUT1):c.699T>G (p.Asp233Glu)

SNV
Germline

Chr3:119486893

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2R1

No Assertion Criteria Provided

CA16044172

rs_550944082

1 SubmittersRCV000412593

NM_001267550.2(TTN):c.87554G>A (p.Trp29185Ter)

SNV
Germline

Chr2:178557800

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16042363

rs_1057518275

2 SubmittersRCV000414356 RCV003766156

NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter)

SNV
Germline

Chr2:178535790

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16042374

rs_1057518195

10 SubmittersRCV000412935 RCV000706846 RCV002379268 RCV004796170

NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe)

SNV
Germline

Chr1:46194606

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA833641

rs_569061665

4 SubmittersRCV000413042 RCV000873590 RCV001096117 RCV001096118 RCV004544726

NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter)

SNV
Germline

Chr2:178531962

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA16042411

rs_1057518003

5 SubmittersRCV000412765 RCV001045728 RCV002402100 RCV004796167

NM_001267550.2(TTN):c.15346C>T (p.Arg5116Ter)

SNV
Germline

Chr2:178734478

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA16042422

rs_1057518470

2 SubmittersRCV000414680 RCV001861434

NM_021971.4(GMPPB):c.952-14A>G

SNV
Germline

Chr3:49721897

Conflicting classifications of pathogenicity

not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2405383

rs_747845961

3 SubmittersRCV000413124 RCV002058865 RCV003133248

NM_021942.6(TRAPPC11):c.2407C>T (p.Gln803Ter)

SNV
Germline

Chr4:183693937

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Multiple Submitters
No Conflicts

CA3152186

rs_780139133

2 SubmittersRCV000414123 RCV006555896

NM_000023.4(SGCA):c.981C>T (p.Ser327=)

SNV
Germline

Chr17:50170664

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643978

rs_368522117

3 SubmittersRCV000413434 RCV001085556

NM_201384.3(PLEC):c.5029G>A (p.Gly1677Ser)

SNV
Germline

Chr8:143924900

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926453

rs_373952777

6 SubmittersRCV000415816 RCV001088925 RCV004659020

NM_001267550.2(TTN):c.43185C>A (p.Ala14395=)

SNV
Germline

Chr2:178632946

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA16043884

rs_1057519234

2 SubmittersRCV000416026 RCV001427198

NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter)

SNV
Germline

Chr4:183664009

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16044220

rs_150331292

3 SubmittersRCV000416446 RCV003401410

NM_001267550.2(TTN):c.91224C>T (p.Ser30408=)

SNV
Germline

Chr2:178551676

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16603867

rs_1057522835

4 SubmittersRCV000420470 RCV000643613 RCV000727473 RCV002365538

NM_001267550.2(TTN):c.87495C>T (p.Asp29165=)

SNV
Germline

Chr2:178557859

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988312

rs_371763584

6 SubmittersRCV000435003 RCV000734243 RCV001087218 RCV002356614

NM_001267550.2(TTN):c.85514T>G (p.Leu28505Ter)

SNV
Germline

Chr2:178560618

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16603877

rs_1057520803

2 SubmittersRCV000438577 RCV001059058

NM_001267550.2(TTN):c.76374A>T (p.Pro25458=)

SNV
Germline

Chr2:178569758

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA16603879

rs_891629905

4 SubmittersRCV000431242 RCV001470970 RCV002339081 RCV003486839

NM_001267550.2(TTN):c.71667T>C (p.Ser23889=)

SNV
Germline

Chr2:178574465

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990604

rs_756824434

4 SubmittersRCV000438567 RCV000867482 RCV002329001 RCV003139594

NM_001267550.2(TTN):c.68498C>G (p.Ser22833Ter)

SNV
Germline

Chr2:178578017

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16603885

rs_876658077

2 SubmittersRCV000438453 RCV006555926

NM_001267550.2(TTN):c.35313G>A (p.Pro11771=)

SNV
Germline

Chr2:178670291

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1997853

rs_369739111

6 SubmittersRCV000726415 RCV001087408

NM_001267550.2(TTN):c.30433+15A>T

SNV
Germline

Chr2:178702439

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999179

rs_371872220

6 SubmittersRCV000436612 RCV001136525 RCV001136527 RCV001136526 RCV001136528 RCV001136524 RCV001528961 RCV002065065

NM_001267550.2(TTN):c.28170C>T (p.Leu9390=)

SNV
Germline

Chr2:178711066

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1999651

rs_149910892

6 SubmittersRCV000441613 RCV000730352 RCV001087475 RCV004532996

NM_001267550.2(TTN):c.21642C>T (p.Asn7214=)

SNV
Germline

Chr2:178723458

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA2000993

rs_752620885

6 SubmittersRCV000713985 RCV001170081 RCV001088499 RCV001824766

NM_001267550.2(TTN):c.7818G>A (p.Ala2606=)

SNV
Germline

Chr2:178773146

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16603946

rs_935809232

4 SubmittersRCV000643856 RCV001698180 RCV002402185

NM_001267550.2(TTN):c.97193-16T>G

SNV
Germline

Chr2:178542579

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1986601

rs_371317486

4 SubmittersRCV000423326 RCV001198132 RCV002061567

NM_001267550.2(TTN):c.95094C>T (p.Ala31698=)

SNV
Germline

Chr2:178546237

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987022

rs_373509153

5 SubmittersRCV000417741 RCV000730569 RCV001088843 RCV002365492

NM_001267550.2(TTN):c.92241T>C (p.Gly30747=)

SNV
Germline

Chr2:178549385

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1987465

rs_373311745

8 SubmittersRCV000431101 RCV000730355 RCV001080856 RCV001170305 RCV002356532 RCV004530552

NM_001267550.2(TTN):c.87771C>A (p.Gly29257=)

SNV
Germline

Chr2:178557491

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988260

rs_72648230

10 SubmittersRCV000418059 RCV000725633 RCV001086339 RCV002356531

NM_001267550.2(TTN):c.88594+2T>G

SNV
Germline

Chr2:178554863

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16603990

rs_1057520744

2 SubmittersRCV000433360 RCV003766216

NM_001267550.2(TTN):c.79344G>T (p.Val26448=)

SNV
Germline

Chr2:178566788

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989485

rs_369875680

4 SubmittersRCV000444105 RCV000487938 RCV001083674 RCV002348233

NM_001267550.2(TTN):c.68604C>T (p.Asp22868=)

SNV
Germline

Chr2:178577822

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991066

rs_750368181

4 SubmittersRCV000422049 RCV000727038 RCV002522697 RCV006342276

NM_001267550.2(TTN):c.57112-4C>T

SNV
Germline

Chr2:178598062

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993094

rs_117072049

5 SubmittersRCV001133743 RCV001133742 RCV001133739 RCV001133740 RCV001133741 RCV001170373 RCV001311244 RCV001509980 RCV002436254

NM_001267550.2(TTN):c.66288A>G (p.Glu22096=)

SNV
Germline

Chr2:178582081

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991546

rs_368297582

4 SubmittersRCV000431291 RCV000728771 RCV002063423 RCV002356597

NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter)

SNV
Germline

Chr2:178590992

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16604007

rs_1057522256

5 SubmittersRCV000437959 RCV001384449 RCV003388581 RCV006342264

NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter)

SNV
Germline

Chr2:178598904

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA16604009

rs_72646828

4 SubmittersRCV000423182 RCV001239436 RCV004796176

NM_001267550.2(TTN):c.52890C>T (p.Thr17630=)

SNV
Germline

Chr2:178607897

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993909

rs_374228930

6 SubmittersRCV000444140 RCV000733818 RCV001078910 RCV002429376

NM_001267550.2(TTN):c.52857C>A (p.Cys17619Ter)

SNV
Germline

Chr2:178607930

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16604011

rs_1057520724

2 SubmittersRCV000422368 RCV005222924

NM_001267550.2(TTN):c.47133A>G (p.Ala15711=)

SNV
Germline

Chr2:178618325

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995117

rs_573218266

12 SubmittersRCV000437070 RCV000544867 RCV000617243 RCV001129309 RCV001129310 RCV001129311 RCV001136291 RCV001129312 RCV001288118

NM_001267550.2(TTN):c.40634-1G>A

SNV
Germline

Chr2:178640631

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996422

rs_749062863

3 SubmittersRCV000420057 RCV001865402 RCV004992219

NM_001267550.2(TTN):c.39885G>A (p.Pro13295=)

SNV
Germline

Chr2:178649827

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1996569

rs_756518824

7 SubmittersRCV000726492 RCV001085672 RCV004533089 RCV005404563

NM_001267550.2(TTN):c.43146G>A (p.Leu14382=)

SNV
Germline

Chr2:178632985

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995934

rs_751236287

3 SubmittersRCV000442715 RCV000643136 RCV002402212

NM_001267550.2(TTN):c.42687C>T (p.Ala14229=)

SNV
Germline

Chr2:178633672

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1996024

rs_775889693

6 SubmittersRCV000417924 RCV000727964 RCV001085096 RCV002402134 RCV004530560

NM_001267550.2(TTN):c.33126C>T (p.Val11042=)

SNV
Germline

Chr2:178681707

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998448

rs_72650036

7 SubmittersRCV000418302 RCV001130217 RCV001130219 RCV001130220 RCV001130221 RCV001130218 RCV001401879 RCV001729581

NM_001267550.2(TTN):c.27049+10C>A

SNV
Germline

Chr2:178713075

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999875

rs_780979988

3 SubmittersRCV000438395 RCV000978823 RCV001134144 RCV001134146 RCV001134145 RCV001134147 RCV001134148

NM_001267550.2(TTN):c.30511+3G>A

SNV
Germline

Chr2:178702165

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
6 conditions

Criteria Provided
Conflicting Classifications

CA1999153

rs_563582627

11 SubmittersRCV000445119 RCV000546673 RCV000728822 RCV000768890 RCV001132146 RCV001132142 RCV001132143 RCV001132144 RCV001132145 RCV005027485

NM_001267550.2(TTN):c.29577A>G (p.Gln9859=)

SNV
Germline

Chr2:178705201

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1999360

rs_368780181

4 SubmittersRCV000726934 RCV001129762 RCV001129763 RCV001132469 RCV001132470 RCV001132471

NC_000002.12:g.178719839G>A

SNV
Germline

Chr2:178719839

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000585

rs_771244164

6 SubmittersRCV000435279 RCV000545919 RCV001134996 RCV001134995 RCV001134992 RCV001134993 RCV001134994 RCV001704269

NM_001267550.2(TTN):c.16581C>T (p.Val5527=)

SNV
Germline

Chr2:178732480

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA2002014

rs_373179717

7 SubmittersRCV000585507 RCV001086968 RCV001821162

NM_001267550.2(TTN):c.16959T>C (p.Asp5653=)

SNV
Germline

Chr2:178731916

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2001936

rs_770260995

4 SubmittersRCV000438432 RCV000732482 RCV001446078

NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly)

SNV
Germline

Chr2:178740901

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2002731

rs_140289517

6 SubmittersRCV000528151 RCV002436297 RCV000730353 RCV004586708

NM_001267550.2(TTN):c.5022C>G (p.Ala1674=)

SNV
Germline

Chr2:178776842

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2005231

rs_753444772

3 SubmittersRCV000433039 RCV000731595 RCV002522637

NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val)

SNV
Germline

Chr2:178777910

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005349

rs_746063269

4 SubmittersRCV000435204 RCV000643756 RCV001796049

NM_001267550.2(TTN):c.7516C>T (p.Arg2506Ter)

SNV
Germline

Chr2:178773540

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA2004799

rs_780415493

3 SubmittersRCV000425248 RCV003766423 RCV004764925

NM_001267550.2(TTN):c.2573C>A (p.Ser858Ter)

SNV
Germline

Chr2:178784272

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA16604057

rs_772294126

2 SubmittersRCV000419904 RCV005213293

NM_001267550.2(TTN):c.87236C>G (p.Ser29079Ter)

SNV
Germline

Chr2:178558118

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16604095

rs_1057520580

2 SubmittersRCV000442589 RCV006555924

NM_001267550.2(TTN):c.84255C>A (p.Cys28085Ter)

SNV
Germline

Chr2:178561877

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA1988805

rs_772842119

2 SubmittersRCV000417708 RCV001865367

NM_001267550.2(TTN):c.76865G>A (p.Trp25622Ter)

SNV
Germline

Chr2:178569267

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16604111

rs_756552975

2 SubmittersRCV000439521 RCV000819827

NM_001267550.2(TTN):c.64742G>A (p.Trp21581Ter)

SNV
Germline

Chr2:178584899

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA16604139

rs_1057523344

2 SubmittersRCV000427280 RCV001221206

NM_001267550.2(TTN):c.60654G>A (p.Thr20218=)

SNV
Germline

Chr2:178591071

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992461

rs_776141268

7 SubmittersRCV000432621 RCV000725695 RCV001131879 RCV001088074 RCV001131877 RCV001131878 RCV001129192 RCV001129193 RCV001798807 RCV002323609

NM_001267550.2(TTN):c.53295T>C (p.Pro17765=)

SNV
Germline

Chr2:178607307

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993820

rs_771792080

6 SubmittersRCV000726974 RCV001087292 RCV002429430 RCV005404565

NM_001267550.2(TTN):c.48960T>C (p.Asp16320=)

SNV
Germline

Chr2:178614554

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16604152

rs_1057523898

4 SubmittersRCV000643900 RCV000727329 RCV002429441

NM_001267550.2(TTN):c.28175-10C>T

SNV
Germline

Chr2:178710932

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999641

rs_748478445

4 SubmittersRCV000433649 RCV000726928 RCV001130934 RCV001130930 RCV001130931 RCV001130932 RCV001130933 RCV001429086

NM_001267550.2(TTN):c.26148A>G (p.Lys8716=)

SNV
Germline

Chr2:178715038

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000067

rs_778772942

3 SubmittersRCV001397867 RCV001696786

NM_001267550.2(TTN):c.25809G>A (p.Ser8603=)

SNV
Germline

Chr2:178715605

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2000139

rs_369099681

7 SubmittersRCV000442226 RCV000865804 RCV001840500 RCV001840501 RCV001840502 RCV001840503 RCV003422392 RCV004530551

NM_001267550.2(TTN):c.23076C>T (p.Cys7692=)

SNV
Germline

Chr2:178720943

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000723

rs_769505705

3 SubmittersRCV000432816 RCV000728534 RCV001089237

NM_001267550.2(TTN):c.21981G>T (p.Thr7327=)

SNV
Germline

Chr2:178722918

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA16604212

rs_775230627

3 SubmittersRCV000430689 RCV001128773 RCV001131422 RCV001131423 RCV001128772 RCV001131424 RCV001394487

NM_001267550.2(TTN):c.8184C>T (p.Val2728=)

SNV
Germline

Chr2:178770608

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004632

rs_753356474

4 SubmittersRCV000731385 RCV001416535 RCV002411369

NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)

SNV
Germline

Chr2:71679197

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA16604254

rs_1057521141

6 SubmittersRCV000424011 RCV000671182 RCV001861509 RCV003470383 RCV005027488

NM_001267550.2(TTN):c.918C>T (p.Ser306=)

SNV
Germline

Chr2:178795249

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006173

rs_773898647

4 SubmittersRCV000643678 RCV000727328 RCV002446745

NM_004393.6(DAG1):c.927C>T (p.Arg309=)

SNV
Germline

Chr3:49531438

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
DAG1-related disorder

Criteria Provided
Conflicting Classifications

CA2398984

rs_551679833

5 SubmittersRCV000421292 RCV000726795 RCV001089270 RCV003912740

NM_000337.6(SGCD):c.717G>A (p.Ala239=)

SNV
Germline

Chr5:156759234

Conflicting classifications of pathogenicity

not specified
Qualitative or quantitative defects of delta-sarcoglycan
Autosomal recessive limb-girdle muscular dystrophy type 2F
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3530684

rs_145430692

8 SubmittersRCV000435171 RCV001152445 RCV001490901 RCV001702458 RCV002374632

NM_012470.4(TNPO3):c.873-3C>T

SNV
Germline

Chr7:129000570

Conflicting classifications of pathogenicity

not specified
Autosomal dominant limb-girdle muscular dystrophy type 1F
TNPO3-related disorder

Criteria Provided
Conflicting Classifications

CA4478295

rs_780935123

3 SubmittersRCV000438675 RCV001054530 RCV003970208

NM_012470.4(TNPO3):c.120+9C>A

SNV
Germline

Chr7:129054642

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4478468

rs_372906002

3 SubmittersRCV000435625 RCV000726695 RCV001087732

NM_001101426.4(CRPPA):c.790-11C>T

SNV
Germline

Chr7:16301477

Conflicting classifications of pathogenicity

not specified
Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Conflicting Classifications

CA4169496

rs_141363557

4 SubmittersRCV000429095 RCV001164714 RCV002230071

NM_201384.3(PLEC):c.11438G>A (p.Arg3813His)

SNV
Germline

Chr8:143918383

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related epidermolysis bullosa
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4924351

rs_782311906

3 SubmittersRCV000441095 RCV000793945 RCV001270892 RCV003985085

NM_201384.3(PLEC):c.11288C>T (p.Ser3763Leu)

SNV
Germline

Chr8:143918533

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924391

rs_377598440

4 SubmittersRCV000443829 RCV000820018 RCV003258811 RCV003129858

NM_201384.3(PLEC):c.10459G>A (p.Val3487Met)

SNV
Germline

Chr8:143919362

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924645

rs_202001247

5 SubmittersRCV001042687 RCV001703823 RCV002525364

NM_201384.3(PLEC):c.9071A>G (p.Asn3024Ser)

SNV
Germline

Chr8:143920750

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925087

rs_535089650

3 SubmittersRCV000434185 RCV000547493 RCV004022439

NM_201384.3(PLEC):c.7926G>A (p.Pro2642=)

SNV
Germline

Chr8:143921895

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925477

rs_201098035

4 SubmittersRCV000725544 RCV002059577

NM_201384.3(PLEC):c.7485C>T (p.Phe2495=)

SNV
Germline

Chr8:143922336

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4925606

rs_542567139

3 SubmittersRCV000437922 RCV000733714 RCV001078563

NM_201384.3(PLEC):c.7441C>G (p.Gln2481Glu)

SNV
Germline

Chr8:143922380

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925615

rs_782016209

4 SubmittersRCV000648568 RCV001704300 RCV002521774

NM_058246.4(DNAJB6):c.564C>T (p.Phe188=)

SNV
Germline

Chr7:157384952

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA4590555

rs_145897776

3 SubmittersRCV000430972 RCV000727354 RCV001085500

NM_001101426.4(CRPPA):c.933+3A>G

SNV
Germline

Chr7:16278126

Conflicting classifications of pathogenicity

not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4169452

rs_377582530

4 SubmittersRCV000419547 RCV000557346 RCV005630735

NM_201384.3(PLEC):c.13636G>A (p.Val4546Met)

SNV
Germline

Chr8:143916185

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4923741

rs_573424409

6 SubmittersRCV000422312 RCV000705982 RCV000725526 RCV004022470

NM_201384.3(PLEC):c.11752A>G (p.Ile3918Val)

SNV
Germline

Chr8:143918069

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4924253

rs_574764116

2 SubmittersRCV000434297 RCV002524850

NM_201384.3(PLEC):c.11036C>T (p.Ala3679Val)

SNV
Germline

Chr8:143918785

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
6 conditions

Criteria Provided
Conflicting Classifications

CA4924452

rs_200060757

4 SubmittersRCV000725675 RCV000797131 RCV005398561

NM_201384.3(PLEC):c.10105G>T (p.Val3369Leu)

SNV
Germline

Chr8:143919716

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924751

rs_201373953

7 SubmittersRCV000426757 RCV000548134 RCV001354949 RCV001087699 RCV002521785 RCV004533057

NM_201384.3(PLEC):c.8912G>A (p.Arg2971Gln)

SNV
Germline

Chr8:143920909

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA4925140

rs_552713184

4 SubmittersRCV000445189 RCV001215225 RCV003133257 RCV005398539

NM_201384.3(PLEC):c.8613C>T (p.Cys2871=)

SNV
Germline

Chr8:143921208

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925249

rs_35821434

6 SubmittersRCV000726443 RCV001087715 RCV004737482

NM_201384.3(PLEC):c.8481C>T (p.Asp2827=)

SNV
Germline

Chr8:143921340

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4925294

rs_377660488

4 SubmittersRCV000445108 RCV000727711 RCV001435824

NM_201384.3(PLEC):c.4978G>A (p.Ala1660Thr)

SNV
Germline

Chr8:143924951

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926478

rs_781997708

3 SubmittersRCV000419056 RCV001861552 RCV005398543

NM_201384.3(PLEC):c.1977+7G>A

SNV
Germline

Chr8:143932393

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4927764

rs_184363750

3 SubmittersRCV000439993 RCV000726284 RCV001079798

NM_201384.3(PLEC):c.885G>A (p.Met295Ile)

SNV
Germline

Chr8:143934870

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4928270

rs_201041690

4 SubmittersRCV000648492 RCV001704330 RCV004022409

NM_201384.3(PLEC):c.825C>T (p.Asn275=)

SNV
Germline

Chr8:143935011

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4928308

rs_113133985

3 SubmittersRCV000543888 RCV000727353

NM_201384.3(PLEC):c.11539G>A (p.Val3847Met)

SNV
Germline

Chr8:143918282

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924323

rs_201654895

3 SubmittersRCV000418111 RCV000795473 RCV003133261

NM_201384.3(PLEC):c.10697C>T (p.Ala3566Val)

SNV
Germline

Chr8:143919124

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924560

rs_782700068

4 SubmittersRCV000421027 RCV000558912 RCV004022436 RCV004737484

NM_201384.3(PLEC):c.9929C>T (p.Ala3310Val)

SNV
Germline

Chr8:143919892

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924810

rs_183230983

5 SubmittersRCV000435977 RCV000726574 RCV000819333 RCV002524872

NM_201384.3(PLEC):c.9713C>T (p.Pro3238Leu)

SNV
Germline

Chr8:143920108

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924879

rs_782085661

4 SubmittersRCV000443980 RCV000706705 RCV003129859 RCV005702192

NM_201384.3(PLEC):c.5862C>T (p.Asn1954=)

SNV
Germline

Chr8:143924067

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4926210

rs_550994317

3 SubmittersRCV000437259 RCV000731452 RCV001087920

NM_201384.3(PLEC):c.4586G>A (p.Arg1529His)

SNV
Germline

Chr8:143925343

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA16605449

rs_1057520714

2 SubmittersRCV000436465 RCV001315527

NM_201384.3(PLEC):c.2962G>C (p.Glu988Gln)

SNV
Germline

Chr8:143929533

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4927274

rs_367627441

4 SubmittersRCV000444396 RCV000686363 RCV000726447 RCV003168674

NM_201384.3(PLEC):c.719-20T>G

SNV
Germline

Chr8:143935137

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA16605453

rs_1057522823

2 SubmittersRCV000439559 RCV006555969

NM_001077365.2(POMT1):c.281-5T>C

SNV
Germline

Chr9:131507363

Conflicting classifications of pathogenicity

not specified
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Conflicting Classifications

CA5293225

rs_367743923

2 SubmittersRCV000442385 RCV001861627

NM_001077365.2(POMT1):c.1443C>T (p.His481=)

SNV
Germline

Chr9:131518914

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293695

rs_139415150

4 SubmittersRCV000731140 RCV001487542 RCV004539791

NM_058246.4(DNAJB6):c.815C>T (p.Ala272Val)

SNV
Germline

Chr7:157409918

Conflicting classifications of pathogenicity

not specified
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16605772

rs_978425267

4 SubmittersRCV000440418 RCV000806872 RCV003168638

NM_201384.3(PLEC):c.13581C>T (p.Tyr4527=)

SNV
Germline

Chr8:143916240

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4923755

rs_562934299

3 SubmittersRCV000417823 RCV000876719 RCV001415694

NM_201384.3(PLEC):c.12564C>T (p.Gly4188=)

SNV
Germline

Chr8:143917257

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924052

rs_140191309

4 SubmittersRCV000429316 RCV000728337 RCV001078581 RCV004737487

NM_201384.3(PLEC):c.11735G>A (p.Arg3912Gln)

SNV
Germline

Chr8:143918086

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924258

rs_781960031

4 SubmittersRCV000648542 RCV001703486

NM_201384.3(PLEC):c.11638G>A (p.Ala3880Thr)

SNV
Germline

Chr8:143918183

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924281

rs_541209817

4 SubmittersRCV000437288 RCV001040596 RCV001509353

NM_201384.3(PLEC):c.11562C>T (p.Arg3854=)

SNV
Germline

Chr8:143918259

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4924312

rs_781931763

3 SubmittersRCV000433919 RCV000726967 RCV001463035

NM_201384.3(PLEC):c.11031C>T (p.Leu3677=)

SNV
Germline

Chr8:143918790

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4924455

rs_376779580

3 SubmittersRCV000727117 RCV001089182

NM_201384.3(PLEC):c.10157C>T (p.Ala3386Val)

SNV
Germline

Chr8:143919664

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924737

rs_532234200

4 SubmittersRCV000430172 RCV000807313 RCV000727107

NM_201384.3(PLEC):c.7639C>T (p.Arg2547Trp)

SNV
Germline

Chr8:143922182

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925558

rs_782242954

3 SubmittersRCV000424970 RCV001062533 RCV004955483

NM_201384.3(PLEC):c.5941C>T (p.Arg1981Trp)

SNV
Germline

Chr8:143923988

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926178

rs_962321651

4 SubmittersRCV000430720 RCV000542752 RCV003133258 RCV005702190

NM_201384.3(PLEC):c.2642C>T (p.Thr881Met)

SNV
Germline

Chr8:143930033

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927429

rs_200611519

7 SubmittersRCV000435316 RCV000795472 RCV000725844 RCV002521792 RCV004533062

NM_201384.3(PLEC):c.2178+10G>A

SNV
Germline

Chr8:143931927

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4927631

rs_781817693

3 SubmittersRCV000442955 RCV000648697 RCV000727823

NM_201384.3(PLEC):c.1816-7C>G

SNV
Germline

Chr8:143932568

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
PLEC-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4927827

rs_201141391

4 SubmittersRCV000548459 RCV004737480 RCV005241322

NM_201384.3(PLEC):c.537A>G (p.Arg179=)

SNV
Germline

Chr8:143935913

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4928411

rs_782604399

3 SubmittersRCV000727847 RCV001308378

NM_213599.3(ANO5):c.1391C>A (p.Ala464Asp)

SNV
Germline

Chr11:22257738

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA16606219

rs_529961953

3 SubmittersRCV000438945 RCV001227167

NM_001077365.2(POMT1):c.855+6T>C

SNV
Germline

Chr9:131510421

Conflicting classifications of pathogenicity

not specified
Condition: not provided
POMT1-related disorder
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Conflicting Classifications

CA5293454

rs_200692465

4 SubmittersRCV000419700 RCV000726765 RCV004539854 RCV001051349

NM_000231.3(SGCG):c.579-2A>G

SNV
Germline

Chr13:23320635

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA6909794

rs_754415994

6 SubmittersRCV000441409 RCV000673462

NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter)

SNV
Germline

Chr14:77280044

Pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Multiple Submitters
No Conflicts

CA7285721

rs_766169193

3 SubmittersRCV000439368 RCV003476014 RCV003766201

NM_013382.7(POMT2):c.1206A>C (p.Pro402=)

SNV
Germline

Chr14:77288809

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA7285925

rs_142479943

3 SubmittersRCV000429115 RCV000727451 RCV001089064

NM_013382.7(POMT2):c.1017C>T (p.Tyr339=)

SNV
Germline

Chr14:77296263

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA16606590

rs_1026361359

3 SubmittersRCV000442800 RCV000727087 RCV002062479

NM_000070.3(CAPN3):c.945+14C>T

SNV
Germline

Chr15:42390110

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511176

rs_763112832

3 SubmittersRCV000424719 RCV001119211

NM_000023.4(SGCA):c.600G>A (p.Val200=)

SNV
Germline

Chr17:50169107

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643850

rs_764188161

4 SubmittersRCV000431109 RCV002059985

NM_013382.7(POMT2):c.1332+19T>G

SNV
Germline

Chr14:77286725

Conflicting classifications of pathogenicity

not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA16607712

rs_1057522317

2 SubmittersRCV000429579 RCV001861559

NM_000070.3(CAPN3):c.1115+2T>C

SNV
Germline

Chr15:42394343

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA16607778

rs_1057524468

5 SubmittersRCV000436181 RCV003476018 RCV003631123

NM_024301.5(FKRP):c.1405C>T (p.Leu469=)

SNV
Germline

Chr19:46756855

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
FKRP-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA9532315

rs_143129484

8 SubmittersRCV000727355 RCV001273522 RCV001083062 RCV002393016 RCV004533075 RCV005239000

NM_201384.3(PLEC):c.1676G>A (p.Arg559Gln)

SNV
Germline

Chr8:143932854

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4927900

rs_376555091

4 SubmittersRCV000454865 RCV001051305 RCV001584123

NM_001267550.2(TTN):c.97324G>A (p.Ala32442Thr)

SNV
Germline

Chr2:178542432

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1986576

rs_778341120

3 SubmittersRCV000468866 RCV005411435 RCV005404582

NM_001267550.2(TTN):c.107181C>T (p.Gly35727=)

SNV
Germline

Chr2:178528570

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16610206

rs_762859509

2 SubmittersRCV000462433 RCV005502799

NM_001267550.2(TTN):c.105642C>A (p.Phe35214Leu)

SNV
Germline

Chr2:178530973

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985226

rs_560557634

3 SubmittersRCV000474099 RCV002411429 RCV003139639

NM_001267550.2(TTN):c.103374C>A (p.Tyr34458Ter)

SNV
Germline

Chr2:178533241

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16610211

rs_1060500505

2 SubmittersRCV001377975 RCV002223840

NM_001267550.2(TTN):c.102061C>T (p.Gln34021Ter)

SNV
Germline

Chr2:178534554

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA16610212

rs_1060500471

1 SubmittersRCV001379114

NM_001267550.2(TTN):c.96230G>A (p.Arg32077Gln)

SNV
Germline

Chr2:178543914

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986795

rs_369835255

3 SubmittersRCV000458401 RCV000619900 RCV001555537

NM_001267550.2(TTN):c.96026T>G (p.Ile32009Arg)

SNV
Germline

Chr2:178544203

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1986834

rs_375368824

4 SubmittersRCV000475458 RCV001131256 RCV001131257 RCV001131258 RCV001131259 RCV000839289 RCV001130529 RCV003486846

NM_001267550.2(TTN):c.95805C>A (p.Tyr31935Ter)

SNV
Germline

Chr2:178544424

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA16610217

rs_375076970

1 SubmittersRCV001377407

NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His)

SNV
Germline

Chr2:178545388

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
not specified
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA1986896

rs_199781261

8 SubmittersRCV000459691 RCV000617892 RCV001128731 RCV001128732 RCV001128733 RCV001128734 RCV001128735 RCV001696844 RCV002271501 RCV005899431

NM_001267550.2(TTN):c.95153G>T (p.Ser31718Ile)

SNV
Germline

Chr2:178546083

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986997

rs_758006837

5 SubmittersRCV000468524 RCV001129060 RCV001129061 RCV001136031 RCV001129063 RCV001129062 RCV001662418

NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=)

SNV
Germline

Chr2:178546601

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA1987073

rs_771635198

5 SubmittersRCV000463419 RCV000597350 RCV002365600 RCV002481382

NM_001267550.2(TTN):c.93179G>A (p.Arg31060His)

SNV
Germline

Chr2:178548447

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987341

rs_776018262

8 SubmittersRCV000517592 RCV000475361 RCV001530075

NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter)

SNV
Germline

Chr2:178553039

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA16610236

rs_1060500457

2 SubmittersRCV001377609 RCV002489006

NM_001267550.2(TTN):c.85472G>A (p.Arg28491His)

SNV
Germline

Chr2:178560660

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1988633

rs_373129706

6 SubmittersRCV000467683 RCV000600782 RCV002356642 RCV003139617 RCV003150214

NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp)

SNV
Germline

Chr2:178552107

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Acute myeloid leukemia
not specified

Criteria Provided
Conflicting Classifications

CA1987742

rs_200022152

9 SubmittersRCV000475196 RCV000726797 RCV001170308 RCV005899428 RCV005404573

NM_001267550.2(TTN):c.85421G>A (p.Arg28474His)

SNV
Germline

Chr2:178560711

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988647

rs_754356257

3 SubmittersRCV001461222 RCV002356715 RCV003488621

NM_001267550.2(TTN):c.89936C>T (p.Thr29979Ile)

SNV
Germline

Chr2:178552964

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987851

rs_779619858

3 SubmittersRCV000476918 RCV005239019 RCV004696203

NM_001267550.2(TTN):c.88611T>G (p.Pro29537=)

SNV
Germline

Chr2:178554736

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1988116

rs_555380931

6 SubmittersRCV000470745 RCV000768868 RCV001131622 RCV001128963 RCV001131621 RCV001131623 RCV001131624 RCV002356714 RCV004539967 RCV005404597

NM_001267550.2(TTN):c.87559G>T (p.Glu29187Ter)

SNV
Germline

Chr2:178557795

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA16610256

rs_1060500586

1 SubmittersRCV000467875

NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu)

SNV
Germline

Chr2:178557906

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1988318

rs_189030321

8 SubmittersRCV000458141 RCV000618964 RCV000727768 RCV000765552 RCV001001980

NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter)

SNV
Germline

Chr2:178559797

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16610263

rs_1060500525

5 SubmittersRCV000469929 RCV003168740 RCV003441861 RCV006458367

NM_001267550.2(TTN):c.83629C>T (p.Arg27877Cys)

SNV
Germline

Chr2:178562503

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA1988894

rs_527624888

3 SubmittersRCV000471742 RCV001562516 RCV001563646

NM_001267550.2(TTN):c.82273C>T (p.Gln27425Ter)

SNV
Germline

Chr2:178563859

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16610279

rs_371332011

3 SubmittersRCV000466161 RCV002348266 RCV002225616

NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)

SNV
Germline

Chr2:178564605

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989195

rs_199726308

9 SubmittersRCV000467896 RCV000605477 RCV000620057 RCV000768914 RCV003139622

NM_001267550.2(TTN):c.103828C>T (p.Arg34610Cys)

SNV
Germline

Chr2:178532787

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1985539

rs_376443365

4 SubmittersRCV000473693 RCV001545632 RCV003155185

NM_001267550.2(TTN):c.80859G>A (p.Thr26953=)

SNV
Germline

Chr2:178565273

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989292

rs_771257647

5 SubmittersRCV000596559 RCV000725692 RCV001083673 RCV002350004

NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro)

SNV
Germline

Chr2:178566249

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1989422

rs_201091376

6 SubmittersRCV000464905 RCV000597470 RCV002339120 RCV003330689

NM_001267550.2(TTN):c.107957T>C (p.Ile35986Thr)

SNV
Germline

Chr2:178527031

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610284

rs_1060500541

3 SubmittersRCV000462807 RCV002223841

NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser)

SNV
Germline

Chr2:178566586

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989460

rs_776256093

7 SubmittersRCV000474513 RCV000603844 RCV000727779 RCV002348269

NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile)

SNV
Germline

Chr2:178537060

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986085

rs_370300135

6 SubmittersRCV000467005 RCV000727163 RCV000852782 RCV002379415

NM_001267550.2(TTN):c.81157T>A (p.Tyr27053Asn)

SNV
Germline

Chr2:178564975

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1989244

rs_776943572

6 SubmittersRCV000460584 RCV000594780 RCV001129074 RCV001129073 RCV001129075 RCV001129076 RCV001129077 RCV005404577

NM_001267550.2(TTN):c.97947G>C (p.Lys32649Asn)

SNV
Germline

Chr2:178540219

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986463

rs_773776767

3 SubmittersRCV000459480 RCV000728972

NM_001267550.2(TTN):c.77707G>A (p.Val25903Ile)

SNV
Germline

Chr2:178568425

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1989723

rs_570615498

4 SubmittersRCV000458673 RCV001797087 RCV005431676

NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys)

SNV
Germline

Chr2:178532490

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Primary familial hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985480

rs_530959653

6 SubmittersRCV000473391 RCV000617739 RCV001578025 RCV006249376

NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter)

SNV
Germline

Chr2:178569478

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA1989877

rs_545954490

5 SubmittersRCV000473644 RCV000788867 RCV002339116 RCV002502607 RCV004787709

NM_001267550.2(TTN):c.76645G>A (p.Gly25549Ser)

SNV
Germline

Chr2:178569487

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1989878

rs_181166140

9 SubmittersRCV000726951 RCV001084873 RCV002348263 RCV004539927 RCV005899425

NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln)

SNV
Germline

Chr2:178572285

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1990299

rs_201694149

6 SubmittersRCV000474091 RCV000620920 RCV000622593 RCV000595166 RCV005404572

NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)

SNV
Germline

Chr2:178534401

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1985790

rs_375159973

6 SubmittersRCV000472652 RCV000490792 RCV001250556 RCV004696911 RCV005404579

NM_001267550.2(TTN):c.95961C>T (p.Ala31987=)

SNV
Germline

Chr2:178544268

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1986851

rs_369405564

5 SubmittersRCV000591351 RCV001079018 RCV002365682 RCV003330700

NM_001267550.2(TTN):c.74508T>C (p.Asp24836=)

SNV
Germline

Chr2:178571624

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610308

rs_1060503924

5 SubmittersRCV000463302 RCV001129082 RCV001129083 RCV001129084 RCV001129085 RCV001129086 RCV002341067 RCV006447210

NM_001267550.2(TTN):c.95539C>T (p.Arg31847Cys)

SNV
Germline

Chr2:178545571

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986938

rs_774814532

4 SubmittersRCV000476418 RCV001548500 RCV002365601

NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys)

SNV
Germline

Chr2:178547902

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987257

rs_563887822

5 SubmittersRCV000471260 RCV000518703 RCV002365596

NM_001267550.2(TTN):c.71879T>C (p.Ile23960Thr)

SNV
Germline

Chr2:178574253

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1990576

rs_568223521

3 SubmittersRCV000465920 RCV000842647 RCV005027500

NM_001267550.2(TTN):c.91536T>A (p.Ser30512=)

SNV
Germline

Chr2:178550995

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987617

rs_769873625

2 SubmittersRCV000474450 RCV002365599

NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter)

SNV
Germline

Chr2:178552140

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16610331

rs_1060500495

4 SubmittersRCV001376910 RCV002225615 RCV002365597 RCV003114580

NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter)

SNV
Germline

Chr2:178546612

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA16610333

rs_1060500435

6 SubmittersRCV000475125 RCV001700373 RCV002365595 RCV004796183

NM_001267550.2(TTN):c.64175G>A (p.Arg21392His)

SNV
Germline

Chr2:178586726

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991939

rs_777176324

3 SubmittersRCV000475566 RCV000592324

NM_001267550.2(TTN):c.93215G>A (p.Arg31072His)

SNV
Germline

Chr2:178548411

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1987337

rs_141817409

10 SubmittersRCV000594898 RCV001088474 RCV002365681 RCV005404594 RCV005625619

NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val)

SNV
Germline

Chr2:178577291

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiovascular phenotype
Malignant lymphoma, large B-cell, diffuse

Criteria Provided
Conflicting Classifications

CA1990999

rs_771710562

6 SubmittersRCV000457085 RCV000608680 RCV000727783 RCV002329022 RCV005899429

NM_001267550.2(TTN):c.91965C>A (p.Tyr30655Ter)

SNV
Germline

Chr2:178549757

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA16610337

rs_1060500402

1 SubmittersRCV001379687

NM_001267550.2(TTN):c.88514G>A (p.Arg29505His)

SNV
Germline

Chr2:178554945

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988138

rs_143193258

4 SubmittersRCV000462859 RCV002356645 RCV002481381 RCV003139629

NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)

SNV
Germline

Chr2:178561492

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
not specified
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988755

rs_72648221

16 SubmittersRCV000460291 RCV000513233 RCV001132532 RCV001132533 RCV001132534 RCV001132535 RCV001132536 RCV001280557 RCV003150216 RCV002348267

NM_001267550.2(TTN):c.82934G>A (p.Arg27645His)

SNV
Germline

Chr2:178563198

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988998

rs_766522109

4 SubmittersRCV000474288 RCV000837484 RCV002348268

NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His)

SNV
Germline

Chr2:178563448

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989029

rs_376616067

4 SubmittersRCV000473870 RCV000617756 RCV001712415

NM_001267550.2(TTN):c.56792G>A (p.Trp18931Ter)

SNV
Germline

Chr2:178598918

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16610352

rs_1060500526

2 SubmittersRCV000458129 RCV003362790

NM_001267550.2(TTN):c.64968A>G (p.Pro21656=)

SNV
Germline

Chr2:178584673

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1991812

rs_376921740

4 SubmittersRCV000476119 RCV002350002 RCV003139672 RCV005404600

NM_001267550.2(TTN):c.55435G>A (p.Val18479Ile)

SNV
Germline

Chr2:178601562

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA1993445

rs_559712998

2 SubmittersRCV000473727 RCV003227763

NM_001267550.2(TTN):c.86120G>A (p.Gly28707Glu)

SNV
Germline

Chr2:178560012

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
TTN-related disorder
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1988553

rs_754207859

6 SubmittersRCV000473090 RCV000768880 RCV002473009 RCV004529582 RCV002356643 RCV005404574

NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr)

SNV
Germline

Chr2:178563115

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988986

rs_769343491

4 SubmittersRCV000458435 RCV000592875

NM_001267550.2(TTN):c.49406T>A (p.Leu16469His)

SNV
Germline

Chr2:178613877

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1994604

rs_72677245

8 SubmittersRCV000596356 RCV000727401 RCV001087387 RCV004533215

NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr)

SNV
Germline

Chr2:178613926

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1994613

rs_200121902

8 SubmittersRCV000595403 RCV001085352 RCV002429571 RCV005404598 RCV004735548

NM_001267550.2(TTN):c.72166C>T (p.Arg24056Cys)

SNV
Germline

Chr2:178573966

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990536

rs_372662393

2 SubmittersRCV000468833 RCV001562366

NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp)

SNV
Germline

Chr2:178593237

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1992749

rs_200728232

6 SubmittersRCV000460883 RCV000591455 RCV002323680 RCV003330687

NM_001267550.2(TTN):c.48143T>C (p.Ile16048Thr)

SNV
Germline

Chr2:178616746

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994912

rs_749678590

6 SubmittersRCV000602940 RCV000714042 RCV001082188 RCV002418442

NM_001267550.2(TTN):c.79085T>C (p.Met26362Thr)

SNV
Germline

Chr2:178567047

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1989527

rs_529839486

7 SubmittersRCV000457151 RCV001721495 RCV002339117 RCV002469152

NM_001267550.2(TTN):c.78064G>A (p.Val26022Ile)

SNV
Germline

Chr2:178568068

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1989667

rs_374764110

5 SubmittersRCV000470057 RCV001696871 RCV002348265 RCV001798821

NM_001267550.2(TTN):c.47938A>G (p.Ile15980Val)

SNV
Germline

Chr2:178616951

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994939

rs_780634456

4 SubmittersRCV000461103 RCV001131649 RCV001131650 RCV001131651 RCV001131652 RCV001131653 RCV001798825 RCV003139624

NM_001267550.2(TTN):c.70645G>A (p.Val23549Ile)

SNV
Germline

Chr2:178575487

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990755

rs_755669336

4 SubmittersRCV000473118 RCV001508110

NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter)

SNV
Germline

Chr2:178576081

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16610380

rs_1060500575

4 SubmittersRCV001376851 RCV003237348 RCV004022555 RCV004764927

NM_001267550.2(TTN):c.68298C>A (p.Asp22766Glu)

SNV
Germline

Chr2:178578642

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991145

rs_534340303

3 SubmittersRCV000474985 RCV000765555 RCV000997414

NM_001267550.2(TTN):c.47757C>T (p.Tyr15919=)

SNV
Germline

Chr2:178617328

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16610381

rs_1060500551

2 SubmittersRCV000467681 RCV004678708

NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter)

SNV
Germline

Chr2:178621502

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16610383

rs_1060500405

4 SubmittersRCV000457096 RCV000788734 RCV004022552 RCV004764926

NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter)

SNV
Germline

Chr2:178609289

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Centronuclear myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16610384

rs_926741242

5 SubmittersRCV000459936 RCV003237347 RCV004586715 RCV005241324

NM_001267550.2(TTN):c.66844T>C (p.Tyr22282His)

SNV
Germline

Chr2:178580535

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991411

rs_745992545

4 SubmittersRCV000476086 RCV001696798 RCV002265767 RCV002374750

NM_001267550.2(TTN):c.50850C>A (p.Asp16950Glu)

SNV
Germline

Chr2:178611379

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1994303

rs_200700386

7 SubmittersRCV000460440 RCV001560476 RCV002446775 RCV004533147 RCV006458365

NM_001267550.2(TTN):c.42851G>A (p.Arg14284His)

SNV
Germline

Chr2:178633508

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Congenital long QT syndrome

Criteria Provided
Conflicting Classifications

CA1996006

rs_368572799

7 SubmittersRCV000459308 RCV000714640 RCV000765573 RCV000714639 RCV000852527 RCV002402232 RCV003139609 RCV004732886

NM_001267550.2(TTN):c.66769+2T>A

SNV
Germline

Chr2:178581497

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16610389

rs_1060500483

2 SubmittersRCV000473815 RCV004591290

NM_001267550.2(TTN):c.47269+2T>C

SNV
Germline

Chr2:178618187

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA16610398

rs_1060500419

2 SubmittersRCV000786238 RCV001376736

NM_001267550.2(TTN):c.39818-9T>C

SNV
Germline

Chr2:178649903

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1996586

rs_368834130

4 SubmittersRCV000461057 RCV002489096 RCV002466511 RCV006458382

NM_001267550.2(TTN):c.39057G>C (p.Pro13019=)

SNV
Germline

Chr2:178652528

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1996879

rs_371945519

5 SubmittersRCV000474656 RCV001170387 RCV003437205 RCV004533149 RCV006458366

NM_001267550.2(TTN):c.69251G>A (p.Arg23084Gln)

SNV
Germline

Chr2:178577084

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990959

rs_200191748

4 SubmittersRCV000476051 RCV002225617 RCV002329024

NM_001267550.2(TTN):c.56314A>G (p.Thr18772Ala)

SNV
Germline

Chr2:178599587

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610408

rs_964263107

2 SubmittersRCV000458117 RCV000829220

NM_001267550.2(TTN):c.56171A>G (p.Lys18724Arg)

SNV
Germline

Chr2:178599730

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993298

rs_201091423

7 SubmittersRCV000469991 RCV001567130 RCV002436388 RCV005404575

NM_001267550.2(TTN):c.55059T>C (p.Asn18353=)

SNV
Germline

Chr2:178602343

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993540

rs_553295928

7 SubmittersRCV000470556 RCV001662435 RCV002436476 RCV003437212

NM_001267550.2(TTN):c.54636T>C (p.Tyr18212=)

SNV
Germline

Chr2:178604051

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA16610415

rs_397517620

4 SubmittersRCV000464314 RCV001134519 RCV001134520 RCV001134516 RCV001134517 RCV001134518 RCV002436475 RCV003235232

NM_001267550.2(TTN):c.39389C>T (p.Pro13130Leu)

SNV
Germline

Chr2:178651740

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1996729

rs_370520319

3 SubmittersRCV000476316 RCV001129313 RCV001136299 RCV001129314 RCV001547905 RCV001136297 RCV001136298

NM_001267550.2(TTN):c.53641C>G (p.Leu17881Val)

SNV
Germline

Chr2:178605654

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993760

rs_771801125

2 SubmittersRCV000463234 RCV003486847

NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser)

SNV
Germline

Chr2:178607427

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993835

rs_749312983

5 SubmittersRCV000595322 RCV001087627

NM_001267550.2(TTN):c.34307A>G (p.Lys11436Arg)

SNV
Germline

Chr2:178677272

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998092

rs_568554504

5 SubmittersRCV000474897 RCV001289367 RCV001729599

NM_001267550.2(TTN):c.51037G>T (p.Glu17013Ter)

SNV
Germline

Chr2:178611092

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA16610437

rs_1060500500

1 SubmittersRCV000471106

NM_001267550.2(TTN):c.59243G>A (p.Arg19748Gln)

SNV
Germline

Chr2:178592876

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1992696

rs_142791877

3 SubmittersRCV000465375 RCV000734426 RCV003150217

NM_001267550.2(TTN):c.37029A>G (p.Pro12343=)

SNV
Germline

Chr2:178662348

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610440

rs_200163049

5 SubmittersRCV000477492 RCV001528798

NM_001267550.2(TTN):c.36391C>T (p.Arg12131Cys)

SNV
Germline

Chr2:178663876

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1997504

rs_368607833

4 SubmittersRCV000474800 RCV002502609 RCV004722765 RCV005404576

NM_001267550.2(TTN):c.34695G>A (p.Val11565=)

SNV
Germline

Chr2:178674327

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998010

rs_372341590

2 SubmittersRCV000459477 RCV001551592

NM_001267550.2(TTN):c.33775G>A (p.Glu11259Lys)

SNV
Germline

Chr2:178678798

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA16610452

rs_1060500563

2 SubmittersRCV000468653 RCV005404581

NM_001267550.2(TTN):c.25971A>T (p.Gly8657=)

SNV
Germline

Chr2:178715215

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA16610462

rs_1060500547

2 SubmittersRCV000463225 RCV005404578

NM_001267550.2(TTN):c.45156T>A (p.Cys15052Ter)

SNV
Germline

Chr2:178621668

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16610464

rs_1060500487

3 SubmittersRCV000465555 RCV001547474 RCV002402234

NM_001267550.2(TTN):c.44916T>A (p.Val14972=)

SNV
Germline

Chr2:178622006

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995533

rs_373390402

4 SubmittersRCV000456971 RCV002307510 RCV002475899 RCV002402308

NM_001267550.2(TTN):c.44848G>A (p.Asp14950Asn)

SNV
Germline

Chr2:178622735

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1995551

rs_571524382

4 SubmittersRCV000464001 RCV001571115 RCV004735532

NM_001267550.2(TTN):c.30433+2T>G

SNV
Germline

Chr2:178702452

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA16610469

rs_1060500504

1 SubmittersRCV000459679

NM_001267550.2(TTN):c.43502C>G (p.Thr14501Ser)

SNV
Germline

Chr2:178632392

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1995842

rs_115825044

8 SubmittersRCV000619085 RCV000725627 RCV001083684 RCV003150215

NM_001267550.2(TTN):c.24756T>G (p.Asp8252Glu)

SNV
Germline

Chr2:178718350

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000366

rs_764248656

4 SubmittersRCV000473976 RCV001134655 RCV001134654 RCV001133195 RCV001133196 RCV001133197 RCV001562414

NM_001267550.2(TTN):c.21404-8C>G

SNV
Germline

Chr2:178723704

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001025

rs_761542135

2 SubmittersRCV000476073 RCV000997533

NM_001267550.2(TTN):c.19714+1G>T

SNV
Germline

Chr2:178728109

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA16610480

rs_1060500423

1 SubmittersRCV000462935

NM_001267550.2(TTN):c.41745G>A (p.Ala13915=)

SNV
Germline

Chr2:178635579

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996213

rs_780790022

2 SubmittersRCV000462357 RCV004022553

NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu)

SNV
Germline

Chr2:178612920

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
Cardiovascular phenotype
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1994514

rs_773271774

7 SubmittersRCV000477328 RCV000714045 RCV000764334 RCV002446774 RCV005621948

NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser)

SNV
Germline

Chr2:178714493

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2000037

rs_369385294

8 SubmittersRCV000477213 RCV000734660 RCV001805061

NM_001267550.2(TTN):c.20891C>T (p.Thr6964Met)

SNV
Germline

Chr2:178724484

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA2001117

rs_765257439

3 SubmittersRCV000458994 RCV003486844 RCV002489005

NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu)

SNV
Germline

Chr2:178633519

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996010

rs_760643071

4 SubmittersRCV000463928 RCV000604586 RCV000714032

NM_001267550.2(TTN):c.19036G>A (p.Val6346Met)

SNV
Germline

Chr2:178729002

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2001483

rs_537966944

4 SubmittersRCV000473632 RCV001576394 RCV002271500

NM_001267550.2(TTN):c.9163+1G>C

SNV
Germline

Chr2:178768672

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16610513

rs_1060500549

4 SubmittersRCV000470325 RCV000490775 RCV001836820 RCV004022554

NM_001267550.2(TTN):c.17228G>A (p.Arg5743Gln)

SNV
Germline

Chr2:178731538

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2001876

rs_753892271

4 SubmittersRCV000726638 RCV001088591 RCV004533210

NM_001267550.2(TTN):c.5672A>G (p.Tyr1891Cys)

SNV
Germline

Chr2:178776192

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005148

rs_547305291

2 SubmittersRCV000470708 RCV001545910

NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp)

SNV
Germline

Chr2:178777893

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005344

rs_139636676

5 SubmittersRCV000472530 RCV000594052 RCV002329026

NM_001267550.2(TTN):c.15496+1G>T

SNV
Germline

Chr2:178734327

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related myopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA16610517

rs_397517481

5 SubmittersRCV001330277 RCV001376850 RCV003883495 RCV004787710 RCV004813098

NM_001267550.2(TTN):c.33742+1G>T

SNV
Germline

Chr2:178679338

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Tip-toe gait
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA1998256

rs_772114165

4 SubmittersRCV000462106 RCV000593203 RCV002226463 RCV006268779

NM_001267550.2(TTN):c.3101-2A>T

SNV
Germline

Chr2:178782604

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA16610518

rs_1060500467

1 SubmittersRCV000462265

NM_001267550.2(TTN):c.33366C>T (p.Val11122=)

SNV
Germline

Chr2:178680306

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA16610521

rs_878915517

2 SubmittersRCV000595323 RCV001084640

NM_001267550.2(TTN):c.32021T>C (p.Leu10674Pro)

SNV
Germline

Chr2:178689127

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998764

rs_762662455

3 SubmittersRCV000469985 RCV001731685

NM_001267550.2(TTN):c.11855G>A (p.Gly3952Glu)

SNV
Germline

Chr2:178741378

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002797

rs_779033634

3 SubmittersRCV000476028 RCV002418352 RCV003480635

NM_001267550.2(TTN):c.1640A>G (p.Gln547Arg)

SNV
Germline

Chr2:178792094

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006003

rs_774937703

3 SubmittersRCV000457214 RCV001530755

NM_001267550.2(TTN):c.31390C>T (p.Arg10464Trp)

SNV
Germline

Chr2:178694635

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1998969

rs_374555701

6 SubmittersRCV000462032 RCV001129213 RCV001129211 RCV001129212 RCV001131900 RCV001131901 RCV001569574 RCV005899433

NM_001267550.2(TTN):c.34612+1G>A

SNV
Germline

Chr2:178675038

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1998034

rs_577363824

4 SubmittersRCV000473977 RCV000502600 RCV005239017 RCV005400726

NM_001267550.2(TTN):c.33995-5T>C

SNV
Germline

Chr2:178677922

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998161

rs_774359312

2 SubmittersRCV001438969 RCV004777679

NM_001267550.2(TTN):c.32025T>C (p.Pro10675=)

SNV
Germline

Chr2:178689123

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA16610537

rs_369365087

2 SubmittersRCV000730357 RCV001078918

NM_001267550.2(TTN):c.28137A>G (p.Ile9379Met)

SNV
Germline

Chr2:178711099

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610538

rs_1060500516

6 SubmittersRCV000474554 RCV000769902 RCV000997518

NM_001267550.2(TTN):c.8905A>G (p.Ile2969Val)

SNV
Germline

Chr2:178768931

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004477

rs_764394936

2 SubmittersRCV000456943 RCV001584131

NM_001267550.2(TTN):c.28644G>A (p.Thr9548=)

SNV
Germline

Chr2:178709675

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1999557

rs_376744914

8 SubmittersRCV000596216 RCV000726672 RCV001088456

NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile)

SNV
Germline

Chr2:178714445

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Hypertrophic cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000027

rs_376823283

9 SubmittersRCV000468492 RCV000517916 RCV000852886 RCV001572975

NM_001267550.2(TTN):c.7502G>A (p.Arg2501Gln)

SNV
Germline

Chr2:178773554

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004801

rs_369559000

4 SubmittersRCV000475387 RCV001170104 RCV001551797 RCV002379416

NM_001267550.2(TTN):c.5581C>T (p.Arg1861Cys)

SNV
Germline

Chr2:178776283

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005162

rs_532733393

2 SubmittersRCV000462788 RCV001550296

NM_001267550.2(TTN):c.919G>A (p.Val307Met)

SNV
Germline

Chr2:178795248

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006172

rs_371056974

3 SubmittersRCV000462708 RCV001653822

NM_001267550.2(TTN):c.24045A>T (p.Ser8015=)

SNV
Germline

Chr2:178719345

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA16610578

rs_1060503946

3 SubmittersRCV000734534 RCV001479953

NM_001267550.2(TTN):c.16550C>T (p.Ser5517Leu)

SNV
Germline

Chr2:178732511

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002023

rs_769165258

4 SubmittersRCV000464192 RCV001527012 RCV001561236

NM_001267550.2(TTN):c.23443C>T (p.Arg7815Trp)

SNV
Germline

Chr2:178720199

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2000625

rs_528264100

3 SubmittersRCV000473099 RCV003480632 RCV003486845

NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr)

SNV
Germline

Chr2:178735910

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2002382

rs_752150323

7 SubmittersRCV000467209 RCV000769087 RCV001335354 RCV001591064 RCV005239020

NM_001267550.2(TTN):c.16903+2T>C

SNV
Germline

Chr2:178732064

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA16610599

rs_1060500574

1 SubmittersRCV000465575

NM_001267550.2(TTN):c.6163G>A (p.Glu2055Lys)

SNV
Germline

Chr2:178775701

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005092

rs_763733251

2 SubmittersRCV000458669 RCV003139673

NM_001267550.2(TTN):c.13048G>A (p.Val4350Met)

SNV
Germline

Chr2:178740185

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002633

rs_781206839

3 SubmittersRCV000466618 RCV000613800 RCV004567953

NM_001267550.2(TTN):c.10303+2T>C

SNV
Germline

Chr2:178758982

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
TTN-related myopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2004144

rs_371596417

10 SubmittersRCV000459587 RCV000619220 RCV000733858 RCV001798822 RCV004787708 RCV005250052

NM_001267550.2(TTN):c.7339G>A (p.Val2447Met)

SNV
Germline

Chr2:178773717

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004824

rs_779064962

6 SubmittersRCV000461292 RCV000605368 RCV000727780 RCV002374749

NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala)

SNV
Germline

Chr2:178780121

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005517

rs_564353179

7 SubmittersRCV000474791 RCV001662420 RCV002460076 RCV003139641

NM_001267550.2(TTN):c.185G>A (p.Arg62His)

SNV
Germline

Chr2:178802248

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006397

rs_758169489

3 SubmittersRCV000468764 RCV001137836 RCV001140072 RCV001140073 RCV001140071 RCV001140070 RCV005641629

NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)

SNV
Germline

Chr19:46755778

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA9532143

rs_758759348

9 SubmittersRCV000459145 RCV000765451 RCV000991999 RCV001272539 RCV002446816 RCV003463910 RCV005027515 RCV005239030

NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr8:143934427

Likely pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

No Assertion Criteria Provided

CA16616909

rs_1060499581

1 SubmittersRCV000477758

NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln)

SNV
Germline

Chr1:46192174

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Conflicting Classifications

CA833361

rs_766382416

4 SubmittersRCV000479982 RCV000984208 RCV000984207 RCV000984209 RCV001368114 RCV002525910 RCV005430538

NM_001267550.2(TTN):c.107377+5G>A

SNV
Germline

Chr2:178528269

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1984962

rs_780526209

2 SubmittersRCV000484970 RCV005222961

NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)

SNV
Germline

Chr2:178536160

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy 9
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16617330

rs_1064793560

7 SubmittersRCV000482118 RCV000548615 RCV002383911 RCV002506161 RCV003147473 RCV003147475 RCV003147472 RCV003147474 RCV003147476 RCV003147477 RCV004535499

NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter)

SNV
Germline

Chr2:178558419

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1988388

rs_776065839

10 SubmittersRCV000480710 RCV001390945 RCV001731710 RCV002356779

NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter)

SNV
Germline

Chr2:178559769

Pathogenic

Condition: not provided
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16617341

rs_1064793814

3 SubmittersRCV000482062 RCV000825632 RCV001851162

NM_001267550.2(TTN):c.79793T>G (p.Leu26598Ter)

SNV
Germline

Chr2:178566339

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16617346

rs_1064794023

2 SubmittersRCV000479175 RCV001220393

NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter)

SNV
Germline

Chr2:178566529

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16617347

rs_1064793911

4 SubmittersRCV000482113 RCV001851164 RCV002341131 RCV004764929

NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter)

SNV
Germline

Chr2:178567728

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16617350

rs_1064793668

3 SubmittersRCV000484371 RCV001037089 RCV002350056

NM_001267550.2(TTN):c.76278G>A (p.Trp25426Ter)

SNV
Germline

Chr2:178569854

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16617351

rs_1064794060

2 SubmittersRCV000481430 RCV003766674

NM_001267550.2(TTN):c.75081G>A (p.Trp25027Ter)

SNV
Germline

Chr2:178571051

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16617352

rs_1064794930

2 SubmittersRCV000480801 RCV006556052

NM_001267550.2(TTN):c.60375C>A (p.Tyr20125Ter)

SNV
Germline

Chr2:178591350

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA16617367

rs_1064796977

2 SubmittersRCV000480169 RCV005213299

NM_001267550.2(TTN):c.46696+1G>A

SNV
Germline

Chr2:178619620

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA16617375

rs_1064796987

2 SubmittersRCV000485102 RCV006556065

NM_001267550.2(TTN):c.13117C>T (p.Gln4373Ter)

SNV
Germline

Chr2:178740116

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16617384

rs_1064793411

4 SubmittersRCV000485482 RCV000688910 RCV002350054

NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter)

SNV
Germline

Chr2:71679173

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA16617750

rs_1064794020

6 SubmittersRCV000484686 RCV000537475 RCV000668514 RCV005027543

NM_201384.3(PLEC):c.9841G>A (p.Val3281Met)

SNV
Germline

Chr8:143919980

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924832

rs_202005454

3 SubmittersRCV000551666 RCV001696894

NM_201384.3(PLEC):c.4786C>T (p.Leu1596=)

SNV
Germline

Chr8:143925143

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926538

rs_782244301

2 SubmittersRCV000486500 RCV001392204

NM_201384.3(PLEC):c.3676G>A (p.Ala1226Thr)

SNV
Germline

Chr8:143927490

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926989

rs_782539707

4 SubmittersRCV000485767 RCV000798873 RCV005398706

NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter)

SNV
Germline

Chr9:131521439

Pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Multiple Submitters
No Conflicts

CA5293823

rs_761848742

3 SubmittersRCV000487062 RCV003464000 RCV002525809

NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys)

SNV
Germline

Chr15:42359851

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7510838

rs_772580081

5 SubmittersRCV000479855 RCV001835820 RCV004609399

NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser)

SNV
Germline

Chr15:42387847

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
not specified

Criteria Provided
Conflicting Classifications

CA7511066

rs_371166254

7 SubmittersRCV000480853 RCV000528940 RCV003476161 RCV004767291

NM_000070.3(CAPN3):c.813C>G (p.Asn271Lys)

SNV
Germline

Chr15:42389964

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA16619927

rs_765292152

2 SubmittersRCV000481092 RCV001851202

NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)

SNV
Germline

Chr17:50169121

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
not specified

Criteria Provided
Conflicting Classifications

CA8643852

rs_757481230

4 SubmittersRCV000478809 RCV000984215 RCV002230956

NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter)

SNV
Germline

Chr2:178591842

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349488139

rs_1085307825

4 SubmittersRCV000489435 RCV002446954 RCV002527035 RCV006249641

NM_058246.4(DNAJB6):c.265T>C (p.Phe89Leu)

SNV
Germline

Chr7:157367402

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA370166092

rs_387907150

3 SubmittersRCV000489139 RCV001865519

NM_201384.3(PLEC):c.8041G>A (p.Glu2681Lys)

SNV
Germline

Chr8:143921780

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925442

rs_200128670

7 SubmittersRCV000556369 RCV000727773 RCV002526039 RCV004737560

NM_000070.3(CAPN3):c.985G>A (p.Gly329Arg)

SNV
Germline

Chr15:42392678

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA391998820

rs_1085307995

3 SubmittersRCV000489651 RCV000644994 RCV003464039

NM_000070.3(CAPN3):c.2327A>G (p.Asn776Ser)

SNV
Germline

Chr15:42410947

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA392002091

rs_1085307534

2 SubmittersRCV000489841 RCV004568603

NM_170707.4(LMNA):c.1126T>C (p.Tyr376His)

SNV
Germline

Chr1:156136090

Likely pathogenic

Condition: not provided
Limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA342820546

rs_1131691263

2 SubmittersRCV000493512 RCV005625638

NM_001267550.2(TTN):c.89197+1G>C

SNV
Germline

Chr2:178553913

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349520239

rs_1131691873

5 SubmittersRCV000493724 RCV000617501 RCV001206208 RCV001280576

NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter)

SNV
Germline

Chr2:178566991

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349599445

rs_1131691944

5 SubmittersRCV000493413 RCV000642795

NM_001267550.2(TTN):c.67272C>A (p.Tyr22424Ter)

SNV
Germline

Chr2:178580015

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349424114

rs_747377194

2 SubmittersRCV000493001 RCV006556092

NM_001267550.2(TTN):c.66228G>A (p.Trp22076Ter)

SNV
Germline

Chr2:178582141

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349429589

rs_1131692031

2 SubmittersRCV000494471 RCV005213307

NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter)

SNV
Germline

Chr2:178605696

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349562547

rs_1131691381

4 SubmittersRCV000494093 RCV000685316 RCV002506192 RCV002431436

NM_001267550.2(TTN):c.46609C>T (p.Gln15537Ter)

SNV
Germline

Chr2:178619708

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349623212

rs_1131691528

2 SubmittersRCV000493509 RCV003766775

NM_001130987.2(DYSF):c.1273C>T (p.Gln425Ter)

SNV
Germline

Chr2:71526343

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347213670

rs_1131691651

3 SubmittersRCV000494297 RCV003574778 RCV006252454

NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)

SNV
Germline

Chr2:71612672

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1706944

rs_138268837

11 SubmittersRCV000494287 RCV000672486 RCV001085319 RCV001449591

NM_201384.3(PLEC):c.4117C>T (p.Arg1373Trp)

SNV
Germline

Chr8:143925812

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4926764

rs_782378494

3 SubmittersRCV000493043 RCV000727166 RCV001202176

NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln)

SNV
Germline

Chr15:42394296

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA269840817

rs_988027905

8 SubmittersRCV000493163 RCV001731719 RCV000667745 RCV005010411

NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp)

SNV
Germline

Chr2:71669207

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

No Assertion Criteria Provided

CA347223179

rs_1131692158

1 SubmittersRCV000494731

NM_001267550.2(TTN):c.93781C>T (p.Arg31261Ter)

SNV
Germline

Chr2:178547845

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349480887

rs_1553528016

3 SubmittersRCV000497363 RCV002524077 RCV004992282

NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter)

SNV
Germline

Chr2:178570663

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349625004

rs_1553603394

3 SubmittersRCV000497570 RCV001044433

NM_001267550.2(TTN):c.69367G>T (p.Gly23123Ter)

SNV
Germline

Chr2:178576968

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349668893

rs_1553616431

2 SubmittersRCV000497760 RCV006556104

NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter)

SNV
Germline

Chr2:178594198

Conflicting classifications of pathogenicity

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992898

rs_768073446

5 SubmittersRCV000497418 RCV000663408 RCV001049350 RCV001798861 RCV005404623

NM_001267550.2(TTN):c.53881+5G>T

SNV
Germline

Chr2:178605409

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA645372702

rs_753527304

4 SubmittersRCV000498199 RCV000803733 RCV002455957 RCV004003496

NM_001267550.2(TTN):c.42946+1G>T

SNV
Germline

Chr2:178633412

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349653156

rs_1553741531

2 SubmittersRCV000498935 RCV001248235

NM_001267550.2(TTN):c.17079C>T (p.Ser5693=)

SNV
Germline

Chr2:178731796

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001919

rs_372588069

3 SubmittersRCV000557763 RCV000727517

NM_001267550.2(TTN):c.15775+1G>A

SNV
Germline

Chr2:178733613

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349590585

rs_1353528319

3 SubmittersRCV000498576 RCV002524069 RCV005239096

NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter)

SNV
Germline

Chr2:178775179

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349682613

rs_1193046655

4 SubmittersRCV000497670 RCV001851386 RCV002356817 RCV003327408

NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val)

SNV
Germline

Chr8:143923465

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925980

rs_201922111

7 SubmittersRCV000648566 RCV000727788 RCV002524102

NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys)

SNV
Germline

Chr8:143932408

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4927772

rs_199843296

7 SubmittersRCV000712725 RCV001080262 RCV004023344 RCV005863171

NM_201384.3(PLEC):c.1753G>A (p.Ala585Thr)

SNV
Germline

Chr8:143932697

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA187621314

rs_368520468

2 SubmittersRCV000497554 RCV000692355

NM_201384.3(PLEC):c.1240C>T (p.Gln414Ter)

SNV
Germline

Chr8:143934021

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Multiple Submitters
No Conflicts

CA372583912

rs_1554719990

2 SubmittersRCV000498390 RCV002524074

NM_032237.5(POMK):c.20A>G (p.Asn7Ser)

SNV
Germline

Chr8:43103568

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Limb-girdle muscular dystrophy due to POMK deficiency

Criteria Provided
Conflicting Classifications

CA4736167

rs_143957574

3 SubmittersRCV000498565 RCV001085408

NM_213599.3(ANO5):c.169C>T (p.Arg57Trp)

SNV
Germline

Chr11:22218276

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3

Criteria Provided
Conflicting Classifications

CA379924809

rs_1323349209

5 SubmittersRCV000497926 RCV000688833 RCV001254061

NM_213599.3(ANO5):c.1955A>G (p.Tyr652Cys)

SNV
Germline

Chr11:22270368

Pathogenic/Likely pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA218774174

rs_563666662

2 SubmittersRCV000498435 RCV000691138

NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)

SNV
Germline

Chr17:50167650

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA400177503

rs_1555568335

4 SubmittersRCV000498091 RCV001824141

NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg)

SNV
Germline

Chr2:178559992

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988548

rs_532818379

6 SubmittersRCV000503192 RCV000553043 RCV000732209

NM_001267550.2(TTN):c.62679C>T (p.Gly20893=)

SNV
Germline

Chr2:178589046

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992193

rs_188059075

4 SubmittersRCV000499867 RCV000643358 RCV001134120 RCV001134122 RCV001134123 RCV001134119 RCV001134121 RCV002455975

NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met)

SNV
Germline

Chr8:143916574

Conflicting classifications of pathogenicity

not specified
Condition: not provided
6 conditions
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases
Multiple sclerosis

Criteria Provided
Conflicting Classifications

CA4923869

rs_201855218

9 SubmittersRCV000500644 RCV000725640 RCV000764746 RCV000796522 RCV004023395 RCV005052811

NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr)

SNV
Germline

Chr8:143929425

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927240

rs_376665854

7 SubmittersRCV000502378 RCV000725600 RCV001085255 RCV003278854 RCV004535607

NM_032237.5(POMK):c.373A>T (p.Met125Leu)

SNV
Germline

Chr8:43122197

Conflicting classifications of pathogenicity

not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Limb-girdle muscular dystrophy due to POMK deficiency
POMK-related disorder

Criteria Provided
Conflicting Classifications

CA4736276

rs_146303063

3 SubmittersRCV000500124 RCV000531161 RCV003960180

NM_032237.5(POMK):c.565A>G (p.Ile189Val)

SNV
Germline

Chr8:43122389

Conflicting classifications of pathogenicity

not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Condition: not provided
Inborn genetic diseases
POMK-related disorder

Criteria Provided
Conflicting Classifications

CA4736303

rs_149297443

6 SubmittersRCV000500315 RCV000543981 RCV001335201 RCV001696977 RCV003159631 RCV003979901

NM_001077365.2(POMT1):c.921G>T (p.Leu307=)

SNV
Germline

Chr9:131511402

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293476

rs_371243573

4 SubmittersRCV000499770 RCV000729146 RCV002056870 RCV004735576

NM_001077365.2(POMT1):c.1487-5G>T

SNV
Germline

Chr9:131519384

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5293728

rs_747783069

3 SubmittersRCV000504315 RCV002056869 RCV006436797

NM_213599.3(ANO5):c.794A>G (p.Asn265Ser)

SNV
Germline

Chr11:22239600

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA5923033

rs_377553546

2 SubmittersRCV000500288 RCV000528209

NM_013382.7(POMT2):c.871C>G (p.Leu291Val)

SNV
Germline

Chr14:77299507

Conflicting classifications of pathogenicity

not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA7286057

rs_764015186

2 SubmittersRCV000501689 RCV000876435

NM_013382.7(POMT2):c.713G>T (p.Gly238Val)

SNV
Germline

Chr14:77301193

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA390520289

rs_1555354172

2 SubmittersRCV000499957 RCV005409660

NM_000023.4(SGCA):c.209C>G (p.Pro70Arg)

SNV
Germline

Chr17:50167633

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400177397

rs_1555568318

1 SubmittersRCV000499843

NM_001267550.2(TTN):c.27994G>A (p.Val9332Met)

SNV
Germline

Chr2:178711242

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Conflicting Classifications

CA1999678

rs_367734747

4 SubmittersRCV001130354 RCV001130355 RCV001130356 RCV001130357 RCV000508163 RCV001130358 RCV002481644

NM_201384.3(PLEC):c.265-9T>G

SNV
Germline

Chr8:143937251

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4928509

rs_376483549

4 SubmittersRCV000509252 RCV000597936 RCV000793988

NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter)

SNV
Germline

Chr15:42387772

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA391997785

rs_1555420475

3 SubmittersRCV000509589

NM_001130987.2(DYSF):c.2864+1G>A

SNV
Germline

Chr2:71568339

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Reviewed By Expert Panel

CA1706298

rs_199954546

10 SubmittersRCV000512137 RCV001217776 RCV001263253 RCV002286745 RCV005252937 RCV005027592

NM_201384.3(PLEC):c.12985C>T (p.Arg4329Cys)

SNV
Germline

Chr8:143916836

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4923934

rs_375593618

5 SubmittersRCV000512847 RCV000648517 RCV002524973

NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter)

SNV
Germline

Chr2:178570586

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349622093

rs_1553603152

3 SubmittersRCV000515731 RCV000850282 RCV002527445

NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)

SNV
Germline

Chr2:178587200

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Multiple Submitters
No Conflicts

CA349446699

rs_1553636324

4 SubmittersRCV000515670 RCV000695044 RCV002350135 RCV004771476

NM_213599.3(ANO5):c.1409T>G (p.Met470Arg)

SNV
Germline

Chr11:22259520

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379921972

rs_1403946332

1 SubmittersRCV000516073

NM_001267550.2(TTN):c.106375-2A>G

SNV
Germline

Chr2:178530118

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349405662

rs_1553482872

5 SubmittersRCV000517317 RCV000985108 RCV004527388

NM_001267550.2(TTN):c.101890C>A (p.Arg33964Ser)

SNV
Germline

Chr2:178534725

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985826

rs_779064623

5 SubmittersRCV000516320 RCV000834759 RCV001134357 RCV001134358 RCV001134359 RCV001131356 RCV001131355 RCV002395240

NM_001267550.2(TTN):c.96138A>T (p.Ile32046=)

SNV
Germline

Chr2:178544006

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1986814

rs_368154623

7 SubmittersRCV000518399 RCV000734454 RCV001088427 RCV002367721 RCV004537865

NM_001267550.2(TTN):c.92226G>A (p.Arg30742=)

SNV
Germline

Chr2:178549400

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987468

rs_759484932

3 SubmittersRCV000517830 RCV001506182 RCV004023530

NM_001267550.2(TTN):c.88246G>T (p.Val29416Phe)

SNV
Germline

Chr2:178556908

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1988182

rs_755325663

5 SubmittersRCV000517221 RCV000643542

NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr)

SNV
Germline

Chr2:178561929

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1988809

rs_72648219

7 SubmittersRCV000534861 RCV000710278 RCV002350143 RCV005404632

NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys)

SNV
Germline

Chr2:178575226

Conflicting classifications of pathogenicity

not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990707

rs_189208539

7 SubmittersRCV000516712 RCV001133459 RCV001134963 RCV001134965 RCV000831396 RCV001133460 RCV001134964 RCV002329228

NM_001267550.2(TTN):c.62546C>T (p.Thr20849Met)

SNV
Germline

Chr2:178589179

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992213

rs_372685222

5 SubmittersRCV000516867 RCV000538004 RCV003139728

NM_001267550.2(TTN):c.58191G>A (p.Thr19397=)

SNV
Germline

Chr2:178594202

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60971875

rs_370091658

6 SubmittersRCV000518231 RCV000727307 RCV001435776 RCV002323883

NM_001267550.2(TTN):c.50355-5A>G

SNV
Germline

Chr2:178611959

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA658657159

rs_1553697218

2 SubmittersRCV000517923 RCV003766937

NM_001267550.2(TTN):c.47758A>C (p.Lys15920Gln)

SNV
Germline

Chr2:178617327

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994992

rs_775513269

5 SubmittersRCV000517781 RCV000617706 RCV000550143 RCV000786258

NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr)

SNV
Germline

Chr2:178629302

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995649

rs_374419129

6 SubmittersRCV000517345 RCV000552677 RCV001171012 RCV002404335 RCV005632446

NM_001267550.2(TTN):c.43315C>T (p.Arg14439Cys)

SNV
Germline

Chr2:178632691

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995898

rs_200914097

5 SubmittersRCV000517260 RCV000530176 RCV000729420 RCV002404334

NM_001267550.2(TTN):c.31927+1G>T

SNV
Germline

Chr2:178689514

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349556230

rs_1553852989

2 SubmittersRCV000516303 RCV002525103

NM_001267550.2(TTN):c.30754+1G>T

SNV
Germline

Chr2:178698842

Conflicting classifications of pathogenicity

not specified
6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60993595

rs_914288774

3 SubmittersRCV000517753 RCV002481688 RCV002525102

NM_001267550.2(TTN):c.21785C>G (p.Thr7262Ser)

SNV
Germline

Chr2:178723222

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2000953

rs_200954184

5 SubmittersRCV000517328 RCV000525218

NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys)

SNV
Germline

Chr2:178729501

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001565

rs_72648948

6 SubmittersRCV000518701 RCV000556938 RCV000726124

NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter)

SNV
Germline

Chr2:71553016

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347218306

rs_1553543506

3 SubmittersRCV000517890 RCV001834663 RCV001382905

NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys)

SNV
Germline

Chr2:71570703

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706459

rs_752810646

6 SubmittersRCV000518215 RCV001239622 RCV001834664 RCV003144306 RCV005549984

NM_021942.6(TRAPPC11):c.931C>G (p.Leu311Val)

SNV
Germline

Chr4:183679452

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type R18
Gastric cancer

Criteria Provided
Conflicting Classifications

CA3151746

rs_148833310

6 SubmittersRCV000538180 RCV001084206 RCV005901161

NM_021942.6(TRAPPC11):c.1894-10C>T

SNV
Germline

Chr4:183691306

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Conflicting Classifications

CA3152047

rs_111381550

3 SubmittersRCV000517286 RCV000651620 RCV001496199

NM_058246.4(DNAJB6):c.479-5T>C

SNV
Germline

Chr7:157384862

Conflicting classifications of pathogenicity

not specified
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA4590540

rs_759259870

3 SubmittersRCV000517133 RCV001458838

NM_201384.3(PLEC):c.11594G>A (p.Arg3865His)

SNV
Germline

Chr8:143918227

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924303

rs_200722246

5 SubmittersRCV000516968 RCV000726188 RCV002060251 RCV004537855

NM_201384.3(PLEC):c.9023G>A (p.Arg3008Gln)

SNV
Germline

Chr8:143920798

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925105

rs_200176579

6 SubmittersRCV000517970 RCV000558676 RCV000727764 RCV006362405

NM_201384.3(PLEC):c.8315G>A (p.Arg2772His)

SNV
Germline

Chr8:143921506

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
See cases

Criteria Provided
Conflicting Classifications

CA4925363

rs_201916690

5 SubmittersRCV000518817 RCV000648520 RCV000730507 RCV002252149

NM_201384.3(PLEC):c.6266C>T (p.Ala2089Val)

SNV
Germline

Chr8:143923663

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926060

rs_782278608

5 SubmittersRCV000727425 RCV002060252 RCV003159661

NM_201384.3(PLEC):c.4980C>T (p.Ala1660=)

SNV
Germline

Chr8:143924949

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926476

rs_199612329

5 SubmittersRCV000517607 RCV000871097 RCV001080078 RCV004737593

NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys)

SNV
Germline

Chr8:143926870

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926829

rs_372256096

6 SubmittersRCV000518288 RCV000726855 RCV001081655 RCV004737592

NM_201384.3(PLEC):c.3787G>A (p.Glu1263Lys)

SNV
Germline

Chr8:143927305

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926928

rs_377125427

6 SubmittersRCV000517992 RCV000876023 RCV001722437 RCV004541613

NM_201384.3(PLEC):c.2140A>G (p.Ile714Val)

SNV
Germline

Chr8:143931975

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4927642

rs_189137260

5 SubmittersRCV000516810 RCV000871807 RCV002255424 RCV002527511

NM_213599.3(ANO5):c.2456A>G (p.Tyr819Cys)

SNV
Germline

Chr11:22276135

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA379924585

rs_1554935116

2 SubmittersRCV000517389 RCV001857892

NM_013382.7(POMT2):c.806G>A (p.Ser269Asn)

SNV
Germline

Chr14:77301100

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7286089

rs_375217032

6 SubmittersRCV000518653 RCV000728228 RCV001241622 RCV005712187

NM_000070.3(CAPN3):c.2440-2A>G

SNV
Germline

Chr15:42411745

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA7511915

rs_769688710

3 SubmittersRCV000516961 RCV003631127 RCV005409665

NM_017739.4(POMGNT1):c.251G>A (p.Arg84His)

SNV
Germline

Chr1:46196834

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA833808

rs_373866304

6 SubmittersRCV000521285 RCV000540487 RCV001829507 RCV004659083

NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter)

SNV
Germline

Chr2:178546323

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349467635

rs_1322596650

7 SubmittersRCV000519781 RCV001858015 RCV003150256 RCV004992302 RCV004735593 RCV005252946

NM_001267550.2(TTN):c.93917T>C (p.Ile31306Thr)

SNV
Germline

Chr2:178547709

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987228

rs_555405542

4 SubmittersRCV000539776 RCV000733004

NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)

SNV
Germline

Chr2:178552530

Pathogenic/Likely pathogenic

Condition: not provided
Primary familial dilated cardiomyopathy
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349511395

rs_1553539995

4 SubmittersRCV000522951 RCV001778991 RCV003237349 RCV003766961

NM_001267550.2(TTN):c.55205T>G (p.Ile18402Ser)

SNV
Germline

Chr2:178602066

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993520

rs_776899398

4 SubmittersRCV000520206 RCV000691773 RCV002438261

NM_001267550.2(TTN):c.47698G>A (p.Glu15900Lys)

SNV
Germline

Chr2:178617387

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1995003

rs_772625773

3 SubmittersRCV000520795 RCV000643535 RCV001336909

NM_001267550.2(TTN):c.43141C>T (p.Gln14381Ter)

SNV
Germline

Chr2:178632990

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349652181

rs_754568652

3 SubmittersRCV000523057 RCV001036879 RCV002404354

NM_001267550.2(TTN):c.30511+1G>C

SNV
Germline

Chr2:178702167

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Conflicting Classifications

CA60997603

rs_879082842

3 SubmittersRCV000520831 RCV001857989 RCV002481714

NM_001267550.2(TTN):c.11913G>A (p.Trp3971Ter)

SNV
Germline

Chr2:178741320

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349618353

rs_749961489

3 SubmittersRCV001368902 RCV003150257 RCV004719089

NM_001130987.2(DYSF):c.2509C>T (p.Arg837Trp)

SNV
Germline

Chr2:71564157

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706191

rs_371841411

5 SubmittersRCV000523223 RCV001829489 RCV002527605 RCV004023559

NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys)

SNV
Germline

Chr2:71590219

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706610

rs_200719174

4 SubmittersRCV000523566 RCV001142639 RCV001829492

NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)

SNV
Germline

Chr2:71598684

Conflicting classifications of pathogenicity

Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Conflicting Classifications

CA1706667

rs_150942486

8 SubmittersRCV000727399 RCV000765698 RCV001272834 RCV001485096 RCV001563734 RCV001563735

NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys)

SNV
Germline

Chr3:49721985

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2405407

rs_371188899

5 SubmittersRCV000522572 RCV000529420 RCV000624021

NM_000337.6(SGCD):c.793G>A (p.Val265Ile)

SNV
Germline

Chr5:156759310

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2F
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3530698

rs_772185467

7 SubmittersRCV000695524 RCV000730461 RCV001194184 RCV002527569

NM_201384.3(PLEC):c.8320G>A (p.Val2774Ile)

SNV
Germline

Chr8:143921501

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925360

rs_782359700

4 SubmittersRCV000522422 RCV001045987 RCV004023556 RCV004737598

NM_201384.3(PLEC):c.4364G>A (p.Arg1455His)

SNV
Germline

Chr8:143925565

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926686

rs_542878693

2 SubmittersRCV000798395 RCV001722442

NM_001077365.2(POMT1):c.428-2A>G

SNV
Germline

Chr9:131508909

Likely pathogenic

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Multiple Submitters
No Conflicts

CA375306861

rs_1554773448

2 SubmittersRCV000520999 RCV003766974

NM_213599.3(ANO5):c.637A>G (p.Arg213Gly)

SNV
Germline

Chr11:22227575

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA379920077

rs_1490746741

3 SubmittersRCV000520345 RCV002525192

NM_213599.3(ANO5):c.817C>T (p.Leu273Phe)

SNV
Germline

Chr11:22239623

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Condition: not provided
ANO5-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5923041

rs_772929002

6 SubmittersRCV000687526 RCV000724847 RCV004732926 RCV005239121

NM_013382.7(POMT2):c.924-2A>C

SNV
Germline

Chr14:77298773

Pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA390519836

rs_886044256

6 SubmittersRCV000523465 RCV000822848 RCV003476218 RCV004586753

NM_002693.3(POLG):c.2027C>T (p.Ala676Val)

SNV
Germline

Chr15:89324150

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
6 conditions
Inborn genetic diseases
Limb-girdle muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA7724615

rs_376306906

9 SubmittersRCV000552401 RCV000733276 RCV000763992 RCV002420318 RCV005621963 RCV006268831

NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)

SNV
Germline

Chr17:50169168

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA8643859

rs_748936034

11 SubmittersRCV000669831 RCV000726679 RCV005000097

NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala)

SNV
Germline

Chr1:179882572

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Y
Condition: not provided
TOR1AIP1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1268639

rs_146976883

10 SubmittersRCV000550453 RCV001547641 RCV003952884 RCV004024360

NM_015602.4(TOR1AIP1):c.580C>T (p.Arg194Cys)

SNV
Germline

Chr1:179889339

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Y
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1268844

rs_534816625

2 SubmittersRCV000538112 RCV005278602

NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln)

SNV
Germline

Chr1:46196046

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Conflicting Classifications

CA833755

rs_770188918

5 SubmittersRCV000554424 RCV000591176 RCV001200051 RCV001834803 RCV002530069

NM_017739.4(POMGNT1):c.1167T>C (p.Ala389=)

SNV
Germline

Chr1:46192944

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA21913005

rs_183698543

2 SubmittersRCV000530635 RCV000732506

NM_001267550.2(TTN):c.107123C>T (p.Pro35708Leu)

SNV
Germline

Chr2:178528628

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder
6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA60950183

rs_71423567

6 SubmittersRCV000556516 RCV000769839 RCV004735603 RCV005027645 RCV005252963 RCV005404651

NM_001267550.2(TTN):c.103772G>A (p.Arg34591Gln)

SNV
Germline

Chr2:178532843

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1985546

rs_778021095

4 SubmittersRCV000532155 RCV000839060 RCV005404646

NM_001267550.2(TTN):c.103215C>T (p.Leu34405=)

SNV
Germline

Chr2:178533400

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60957462

rs_748516187

3 SubmittersRCV000533957 RCV000733731 RCV002395400

NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr)

SNV
Germline

Chr2:178547018

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
See cases
Cardiomyopathy
not specified
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA1987126

rs_375657115

9 SubmittersRCV000560368 RCV000993510 RCV000618293 RCV002252162 RCV001798890 RCV005404673 RCV003227786

NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala)

SNV
Germline

Chr2:178531007

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1985231

rs_771136390

7 SubmittersRCV000526551 RCV000593816 RCV005398807

NM_001267550.2(TTN):c.86016G>A (p.Trp28672Ter)

SNV
Germline

Chr2:178560116

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349547000

rs_1553562022

1 SubmittersRCV000550796

NM_001267550.2(TTN):c.81647G>A (p.Arg27216His)

SNV
Germline

Chr2:178564485

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989175

rs_371910831

4 SubmittersRCV000554115 RCV002506349 RCV003486872 RCV003139830

NM_001267550.2(TTN):c.80446G>A (p.Val26816Ile)

SNV
Germline

Chr2:178565686

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989345

rs_774092000

2 SubmittersRCV000546478 RCV001568704

NM_001267550.2(TTN):c.93541G>T (p.Glu31181Ter)

SNV
Germline

Chr2:178548085

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349482402

rs_1243301263

2 SubmittersRCV000554078 RCV001798880

NM_001267550.2(TTN):c.78993A>G (p.Arg26331=)

SNV
Germline

Chr2:178567139

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1989539

rs_745659756

4 SubmittersRCV000594055 RCV001078631 RCV002341357 RCV005404669

NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys)

SNV
Germline

Chr2:178567218

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
6 conditions
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1989553

rs_199646089

6 SubmittersRCV000547535 RCV000594551 RCV002341356 RCV002476171 RCV003330778 RCV004735608

NM_001267550.2(TTN):c.105413T>C (p.Met35138Thr)

SNV
Germline

Chr2:178531202

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1985265

rs_771741670

5 SubmittersRCV000536908 RCV001722486 RCV005404648

NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter)

SNV
Germline

Chr2:178553740

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA349519683

rs_1179247052

4 SubmittersRCV000541321 RCV002367859 RCV003114664 RCV002497135

NM_001267550.2(TTN):c.77326G>T (p.Glu25776Ter)

SNV
Germline

Chr2:178568806

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349611184

rs_1553600058

1 SubmittersRCV001378783

NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala)

SNV
Germline

Chr2:178529147

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985065

rs_368179478

4 SubmittersRCV000540970 RCV000592815 RCV002420448

NM_001267550.2(TTN):c.105920T>C (p.Val35307Ala)

SNV
Germline

Chr2:178530695

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1985188

rs_780629996

3 SubmittersRCV000531836 RCV000830759 RCV004537977

NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr)

SNV
Germline

Chr2:178570873

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990080

rs_759110420

8 SubmittersRCV000543490 RCV000733724 RCV002341351

NM_001267550.2(TTN):c.87001G>A (p.Val29001Ile)

SNV
Germline

Chr2:178558458

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988393

rs_750591986

4 SubmittersRCV000547526 RCV001662563

NM_001267550.2(TTN):c.74860C>T (p.Leu24954Phe)

SNV
Germline

Chr2:178571272

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1990134

rs_202191466

4 SubmittersRCV000550865 RCV000841632 RCV005896823

NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln)

SNV
Germline

Chr2:178571793

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1990209

rs_776673912

5 SubmittersRCV000555738 RCV001131755 RCV001129087 RCV001131757 RCV001131754 RCV001131756 RCV003139825 RCV002476169 RCV005404666

NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)

SNV
Germline

Chr2:178534092

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1985742

rs_752697861

6 SubmittersRCV000534053 RCV003302825 RCV004764933 RCV004735598

NM_001267550.2(TTN):c.73319T>C (p.Ile24440Thr)

SNV
Germline

Chr2:178572813

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990381

rs_370931683

3 SubmittersRCV000540170 RCV002341347 RCV001572517

NM_001267550.2(TTN):c.98552G>A (p.Arg32851Gln)

SNV
Germline

Chr2:178539513

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986358

rs_775915301

2 SubmittersRCV000548812 RCV001568591

NM_001267550.2(TTN):c.98119G>C (p.Asp32707His)

SNV
Germline

Chr2:178539946

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349434738

rs_1307768306

3 SubmittersRCV000535737 RCV002225655

NM_001267550.2(TTN):c.96904+1G>A

SNV
Germline

Chr2:178543068

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349444554

rs_1553517092

3 SubmittersRCV001377466 RCV002367860 RCV003994008

NM_001267550.2(TTN):c.81545T>A (p.Ile27182Asn)

SNV
Germline

Chr2:178564587

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989192

rs_373448447

3 SubmittersRCV000542811 RCV001565833

NM_001267550.2(TTN):c.100384G>A (p.Glu33462Lys)

SNV
Germline

Chr2:178536363

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986039

rs_748104690

4 SubmittersRCV000535926 RCV000595704

NM_001267550.2(TTN):c.81517C>G (p.Pro27173Ala)

SNV
Germline

Chr2:178564615

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1989199

rs_754325718

4 SubmittersRCV000532629 RCV000620567 RCV005404670

NM_001267550.2(TTN):c.100105C>T (p.Gln33369Ter)

SNV
Germline

Chr2:178537004

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349426757

rs_1553503201

1 SubmittersRCV001378158

NM_001267550.2(TTN):c.95063T>G (p.Leu31688Ter)

SNV
Germline

Chr2:178546268

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349466946

rs_794729538

1 SubmittersRCV001378680

NM_001267550.2(TTN):c.68007G>A (p.Lys22669=)

SNV
Germline

Chr2:178579023

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1991205

rs_755897447

4 SubmittersRCV000537353 RCV002491048 RCV003302842 RCV004541702

NM_001267550.2(TTN):c.93323T>C (p.Ile31108Thr)

SNV
Germline

Chr2:178548303

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1987318

rs_373732722

4 SubmittersRCV000541137 RCV001554920 RCV000765541

NM_001267550.2(TTN):c.64915C>T (p.Arg21639Ter)

SNV
Germline

Chr2:178584726

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349436291

rs_1432889079

2 SubmittersRCV000541256 RCV000788718

NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)

SNV
Germline

Chr2:178587304

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992002

rs_372812312

10 SubmittersRCV000549166 RCV000593395 RCV001130771 RCV001133738 RCV001130770 RCV001133737 RCV001133736 RCV002282219 RCV002456151

NM_001267550.2(TTN):c.88562C>A (p.Ser29521Ter)

SNV
Germline

Chr2:178554897

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349526686

rs_1436663696

1 SubmittersRCV001377726

NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys)

SNV
Germline

Chr2:178554946

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1988139

rs_372360369

6 SubmittersRCV000559910 RCV000733570 RCV000765550 RCV002358527 RCV005404672

NM_001267550.2(TTN):c.76802C>T (p.Thr25601Met)

SNV
Germline

Chr2:178569330

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989858

rs_374913031

4 SubmittersRCV000533551 RCV001563336 RCV002341354

NM_001267550.2(TTN):c.93254C>T (p.Pro31085Leu)

SNV
Germline

Chr2:178548372

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987332

rs_549841864

3 SubmittersRCV000591905 RCV001087664 RCV002367867

NM_001267550.2(TTN):c.88106G>A (p.Gly29369Asp)

SNV
Germline

Chr2:178557048

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988201

rs_55898359

2 SubmittersRCV000558081 RCV001570517

NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter)

SNV
Germline

Chr2:178559706

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349543885

rs_1553560951

3 SubmittersRCV000526787 RCV002506341 RCV003302840

NM_001267550.2(TTN):c.62703A>G (p.Leu20901=)

SNV
Germline

Chr2:178589022

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992189

rs_749180542

4 SubmittersRCV000525012 RCV001131160 RCV001134118 RCV001131159 RCV001134117 RCV001131161 RCV001722493 RCV002456149

NM_001267550.2(TTN):c.85953A>G (p.Leu28651=)

SNV
Germline

Chr2:178560179

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60984297

rs_546573613

7 SubmittersRCV000535412 RCV000609956 RCV000732255 RCV001170547 RCV003159839

NM_001267550.2(TTN):c.89295T>C (p.Ala29765=)

SNV
Germline

Chr2:178553710

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987948

rs_375374658

4 SubmittersRCV000596681 RCV000726669 RCV002526151 RCV003343910

NM_001267550.2(TTN):c.59074A>G (p.Thr19692Ala)

SNV
Germline

Chr2:178593045

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992720

rs_771977738

3 SubmittersRCV000553967 RCV000828415

NM_001267550.2(TTN):c.88306+8T>C

SNV
Germline

Chr2:178556840

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1988172

rs_369690199

5 SubmittersRCV000591787 RCV000727332 RCV001257071

NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr)

SNV
Germline

Chr2:178557042

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988198

rs_767890385

7 SubmittersRCV000531701 RCV000609858 RCV001507588 RCV002358524

NM_001267550.2(TTN):c.83345C>G (p.Ser27782Ter)

SNV
Germline

Chr2:178562787

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349568154

rs_769862471

1 SubmittersRCV001377930

NM_001267550.2(TTN):c.83032G>A (p.Asp27678Asn)

SNV
Germline

Chr2:178563100

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988984

rs_781128731

2 SubmittersRCV000547342 RCV001584290

NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu)

SNV
Germline

Chr2:178593830

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1992846

rs_374118468

7 SubmittersRCV000536342 RCV000619409 RCV001311243 RCV001798886

NM_001267550.2(TTN):c.87650G>A (p.Arg29217His)

SNV
Germline

Chr2:178557704

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988285

rs_749606240

3 SubmittersRCV000555058 RCV001132854 RCV001136267 RCV001136269 RCV001136268 RCV001136270 RCV003139832

NM_001267550.2(TTN):c.86836C>G (p.Pro28946Ala)

SNV
Germline

Chr2:178558623

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988422

rs_748587720

3 SubmittersRCV000548767 RCV001584291

NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile)

SNV
Germline

Chr2:178577354

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991008

rs_183056142

6 SubmittersRCV000538225 RCV000601528 RCV001130429 RCV001131147 RCV001131148 RCV001131149 RCV001131146 RCV002330890 RCV005632474

NM_001267550.2(TTN):c.54194G>A (p.Arg18065His)

SNV
Germline

Chr2:178604895

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993667

rs_375895183

3 SubmittersRCV000546800 RCV000834832 RCV001136061 RCV001136062 RCV001136063 RCV001136064 RCV001136060

NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter)

SNV
Germline

Chr2:178605110

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349556213

rs_1553682168

3 SubmittersRCV001388242 RCV002438392 RCV003314612

NM_001267550.2(TTN):c.85428A>G (p.Gln28476=)

SNV
Germline

Chr2:178560704

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60984697

rs_777939514

3 SubmittersRCV000559704 RCV003222029 RCV005298527

NM_001267550.2(TTN):c.51249C>A (p.Val17083=)

SNV
Germline

Chr2:178610277

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994228

rs_377342233

5 SubmittersRCV000727699 RCV001088974 RCV002448712

NM_001267550.2(TTN):c.81943G>T (p.Glu27315Ter)

SNV
Germline

Chr2:178564189

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1989132

rs_373533040

2 SubmittersRCV001377020 RCV006270396

NM_001267550.2(TTN):c.80462C>T (p.Pro26821Leu)

SNV
Germline

Chr2:178565670

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1989341

rs_200489046

5 SubmittersRCV000552086 RCV000619182 RCV000828890 RCV000769933

NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter)

SNV
Germline

Chr2:178566838

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1989495

rs_774411587

2 SubmittersRCV000537733 RCV002350284

NM_001267550.2(TTN):c.79251G>C (p.Glu26417Asp)

SNV
Germline

Chr2:178566881

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989500

rs_369019463

4 SubmittersRCV000525632 RCV000768915 RCV001591240

NM_001267550.2(TTN):c.78431T>C (p.Ile26144Thr)

SNV
Germline

Chr2:178567701

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1989604

rs_183015944

4 SubmittersRCV000556034 RCV000836314 RCV001134962 RCV001134958 RCV001134959 RCV001134960 RCV001134961 RCV005404668

NM_001267550.2(TTN):c.77749T>C (p.Tyr25917His)

SNV
Germline

Chr2:178568383

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1989717

rs_370137092

8 SubmittersRCV000548592 RCV000768919 RCV001130054 RCV001130055 RCV001130056 RCV001130057 RCV001130058 RCV001555582 RCV005404667

NM_001267550.2(TTN):c.48556C>T (p.Arg16186Cys)

SNV
Germline

Chr2:178615389

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1994792

rs_377563403

4 SubmittersRCV000547316 RCV001764572 RCV000764337

NM_001267550.2(TTN):c.66161-1G>C

SNV
Germline

Chr2:178582209

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349429741

rs_1553627403

5 SubmittersRCV000528310 RCV002060327 RCV002491025 RCV006249651

NM_001267550.2(TTN):c.71300G>A (p.Arg23767Gln)

SNV
Germline

Chr2:178574832

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1990652

rs_370516890

7 SubmittersRCV000533920 RCV000837055 RCV001798888 RCV005435011

NM_001267550.2(TTN):c.71002A>T (p.Lys23668Ter)

SNV
Germline

Chr2:178575130

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349659824

rs_1553612321

1 SubmittersRCV000542475

NM_001267550.2(TTN):c.76610G>A (p.Arg25537His)

SNV
Germline

Chr2:178569522

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989884

rs_561977468

6 SubmittersRCV000734884 RCV001079343 RCV001135499 RCV001135501 RCV001135502 RCV001135503 RCV001135500 RCV002341353

NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp)

SNV
Germline

Chr2:178572615

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990358

rs_567446185

6 SubmittersRCV000528939 RCV000610035 RCV001131868 RCV001131869 RCV001131871 RCV001131870 RCV001131872 RCV001571924

NM_001267550.2(TTN):c.46591G>A (p.Gly15531Arg)

SNV
Germline

Chr2:178619726

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995217

rs_761815745

7 SubmittersRCV000541917 RCV001564240 RCV004767364 RCV002413549

NM_001267550.2(TTN):c.70978C>T (p.Arg23660Ter)

SNV
Germline

Chr2:178575154

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349659930

rs_1553612386

6 SubmittersRCV000530506 RCV002293451 RCV002330888 RCV005409673

NM_001267550.2(TTN):c.66958C>T (p.Arg22320Cys)

SNV
Germline

Chr2:178580421

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1991397

rs_772361876

2 SubmittersRCV000538703 RCV003486870

NM_001267550.2(TTN):c.68943G>A (p.Trp22981Ter)

SNV
Germline

Chr2:178577392

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349670794

rs_1553617378

1 SubmittersRCV001379435

NM_001267550.2(TTN):c.67210G>A (p.Val22404Met)

SNV
Germline

Chr2:178580077

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991353

rs_369257896

7 SubmittersRCV000532135 RCV001131636 RCV001131635 RCV001131638 RCV001170576 RCV001131637 RCV001131639 RCV001584289

NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile)

SNV
Germline

Chr2:178581565

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991458

rs_751354601

7 SubmittersRCV000550774 RCV000607451 RCV000727753 RCV001170579 RCV002377097

NM_001267550.2(TTN):c.61815A>G (p.Ile20605Met)

SNV
Germline

Chr2:178589910

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1992304

rs_761374262

4 SubmittersRCV000548488 RCV002460087 RCV005632472 RCV005404665

NM_001267550.2(TTN):c.65986C>T (p.Arg21996Cys)

SNV
Germline

Chr2:178582470

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991600

rs_577114038

5 SubmittersRCV000555810 RCV003150268 RCV003139820

NM_001267550.2(TTN):c.65514C>T (p.Thr21838=)

SNV
Germline

Chr2:178583668

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991691

rs_372543748

5 SubmittersRCV000727798 RCV000604026 RCV001088565 RCV003159835

NM_001267550.2(TTN):c.39056C>T (p.Pro13019Leu)

SNV
Germline

Chr2:178652529

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1996880

rs_763845436

4 SubmittersRCV000536838 RCV000594353 RCV000852866

NM_001267550.2(TTN):c.37502C>T (p.Pro12501Leu)

SNV
Germline

Chr2:178658746

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Primary dilated cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA349484155

rs_1236045684

4 SubmittersRCV000549749 RCV000714021 RCV001293184 RCV004537984

NM_001267550.2(TTN):c.62567A>G (p.Tyr20856Cys)

SNV
Germline

Chr2:178589158

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1992209

rs_373867080

5 SubmittersRCV000547486 RCV003139817 RCV002456147 RCV005418207

NM_001267550.2(TTN):c.60447T>G (p.Tyr20149Ter)

SNV
Germline

Chr2:178591278

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Single Submitter

CA349484513

rs_1553644047

2 SubmittersRCV000535768 RCV004537975

NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr)

SNV
Germline

Chr2:178592531

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided
Cardiovascular phenotype
6 conditions
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1992660

rs_376465623

8 SubmittersRCV000528644 RCV001174706 RCV001703197 RCV002448714 RCV002506347 RCV004537986

NM_001267550.2(TTN):c.36310G>T (p.Glu12104Ter)

SNV
Germline

Chr2:178664069

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349499145

rs_1455879402

3 SubmittersRCV000540704 RCV002473054

NM_001267550.2(TTN):c.35678C>G (p.Thr11893Ser)

SNV
Germline

Chr2:178667477

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1997758

rs_750832804

5 SubmittersRCV000532364 RCV001004945 RCV001785656 RCV005252964 RCV005404658

NM_001267550.2(TTN):c.35312C>T (p.Pro11771Leu)

SNV
Germline

Chr2:178670292

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1997854

rs_373508919

3 SubmittersRCV000553175 RCV001775864 RCV003486867

NM_001267550.2(TTN):c.57382A>G (p.Met19128Val)

SNV
Germline

Chr2:178597700

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993056

rs_138367112

5 SubmittersRCV000527995 RCV001584288 RCV002438408 RCV003330776

NM_001267550.2(TTN):c.57370G>A (p.Val19124Ile)

SNV
Germline

Chr2:178597712

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiomyopathy
Cardiovascular phenotype
Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993058

rs_142841000

6 SubmittersRCV000549854 RCV000600882 RCV000852838 RCV002438407 RCV004799217 RCV006277887

NM_001267550.2(TTN):c.56911G>A (p.Val18971Met)

SNV
Germline

Chr2:178598799

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993160

rs_373153121

4 SubmittersRCV000537662 RCV001563367 RCV002438405

NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter)

SNV
Germline

Chr2:178593338

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349501189

rs_1553649171

8 SubmittersRCV000527865 RCV001093060 RCV001594397 RCV002323980

NM_001267550.2(TTN):c.55107C>T (p.Ala18369=)

SNV
Germline

Chr2:178602295

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430269250

rs_1316618431

2 SubmittersRCV000541115 RCV000727944

NM_001267550.2(TTN):c.54314G>A (p.Arg18105His)

SNV
Germline

Chr2:178604775

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993654

rs_760383112

4 SubmittersRCV000535805 RCV000731131 RCV003486868

NM_001267550.2(TTN):c.56960T>C (p.Ile18987Thr)

SNV
Germline

Chr2:178598750

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993148

rs_373351577

6 SubmittersRCV000558569 RCV000596680 RCV002438406 RCV005404663

NM_001267550.2(TTN):c.56884C>T (p.Arg18962Trp)

SNV
Germline

Chr2:178598826

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA60975146

rs_556286196

7 SubmittersRCV000559374 RCV000756856 RCV001798885 RCV005239179

NM_001267550.2(TTN):c.56351G>A (p.Arg18784His)

SNV
Germline

Chr2:178599442

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993265

rs_771284532

11 SubmittersRCV000555385 RCV000597681 RCV000727403 RCV003150266

NM_001267550.2(TTN):c.55988A>G (p.Asn18663Ser)

SNV
Germline

Chr2:178600916

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993349

rs_368350844

5 SubmittersRCV000550352 RCV001536689 RCV002438402 RCV005431753

NM_001267550.2(TTN):c.55972C>T (p.Arg18658Ter)

SNV
Germline

Chr2:178600932

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1993353

rs_764985774

3 SubmittersRCV001376967 RCV002438393 RCV004017671

NM_001267550.2(TTN):c.54819G>A (p.Pro18273=)

SNV
Germline

Chr2:178602583

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993565

rs_373624715

3 SubmittersRCV000540767 RCV002438400 RCV005431752

NM_001267550.2(TTN):c.54812-1G>T

SNV
Germline

Chr2:178602591

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349547316

rs_1416873295

1 SubmittersRCV001378254

NM_001267550.2(TTN):c.50148T>A (p.Thr16716=)

SNV
Germline

Chr2:178612377

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994438

rs_374138859

4 SubmittersRCV000540826 RCV003139802 RCV003278897

NM_001267550.2(TTN):c.53625A>G (p.Thr17875=)

SNV
Germline

Chr2:178605670

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993765

rs_373277508

6 SubmittersRCV000597466 RCV000727093 RCV001089015 RCV004678744

NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met)

SNV
Germline

Chr2:178605124

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993705

rs_368425364

8 SubmittersRCV000538658 RCV000658892 RCV002456146

NM_001267550.2(TTN):c.47740G>C (p.Val15914Leu)

SNV
Germline

Chr2:178617345

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994994

rs_764059405

3 SubmittersRCV000535141 RCV001136069 RCV001136070 RCV001136073 RCV001136071 RCV001136072 RCV003139798

NM_001267550.2(TTN):c.28754A>G (p.Glu9585Gly)

SNV
Germline

Chr2:178707813

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999522

rs_200856239

4 SubmittersRCV000540573 RCV000594144 RCV000727514

NM_001267550.2(TTN):c.52323C>T (p.Tyr17441=)

SNV
Germline

Chr2:178608688

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994019

rs_749855424

3 SubmittersRCV000557556 RCV000591969 RCV004024033

NM_001267550.2(TTN):c.50597G>A (p.Arg16866Lys)

SNV
Germline

Chr2:178611632

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994337

rs_774137928

5 SubmittersRCV000555019 RCV001130078 RCV001130079 RCV001130080 RCV001130081 RCV001130777 RCV001700146

NM_001267550.2(TTN):c.52032T>C (p.His17344=)

SNV
Germline

Chr2:178609278

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1994074

rs_374254751

3 SubmittersRCV001129743 RCV001129744 RCV001129745 RCV001129746 RCV001129747 RCV001461264 RCV006452724

NM_001267550.2(TTN):c.43691C>G (p.Ser14564Cys)

SNV
Germline

Chr2:178632203

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995817

rs_377015571

4 SubmittersRCV000548147 RCV001130211 RCV001130212 RCV001130213 RCV001130214 RCV001130215 RCV003488678 RCV005632470

NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val)

SNV
Germline

Chr2:178609740

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994142

rs_370644359

8 SubmittersRCV000541583 RCV000997458 RCV001132561 RCV001132562 RCV001132563 RCV001132564 RCV001132565 RCV001264594 RCV002448713

NM_001267550.2(TTN):c.51055C>T (p.Arg17019Cys)

SNV
Germline

Chr2:178611074

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994260

rs_773394284

4 SubmittersRCV000549952 RCV002225654

NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys)

SNV
Germline

Chr2:178615356

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994784

rs_748917057

3 SubmittersRCV000550943 RCV000728962

NM_001267550.2(TTN):c.24506-8C>G

SNV
Germline

Chr2:178718608

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000410

rs_748675191

3 SubmittersRCV000727805 RCV001089274

NM_001267550.2(TTN):c.47894T>A (p.Leu15965Ter)

SNV
Germline

Chr2:178616995

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349612840

rs_878982457

1 SubmittersRCV001377019

NM_001267550.2(TTN):c.23215C>A (p.Arg7739=)

SNV
Germline

Chr2:178720547

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000673

rs_372250586

2 SubmittersRCV000530748 RCV000596092

NM_001267550.2(TTN):c.22633C>T (p.Arg7545Ter)

SNV
Germline

Chr2:178722030

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA2000796

rs_764687326

5 SubmittersRCV000559278 RCV001355451 RCV002497137

NM_001267550.2(TTN):c.44210G>A (p.Arg14737His)

SNV
Germline

Chr2:178630312

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1995719

rs_373298007

9 SubmittersRCV000528178 RCV000595875 RCV002404468 RCV003330774

NM_001267550.2(TTN):c.43748-4G>A

SNV
Germline

Chr2:178631304

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430276445

rs_1301078575

2 SubmittersRCV001490437 RCV003159833

NM_001267550.2(TTN):c.41019G>A (p.Pro13673=)

SNV
Germline

Chr2:178636708

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996321

rs_762470432

5 SubmittersRCV000726465 RCV001087655 RCV002384158

NM_001267550.2(TTN):c.40927+1G>A

SNV
Germline

Chr2:178637368

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349662073

rs_1553749862

2 SubmittersRCV000535076 RCV001289375

NM_001267550.2(TTN):c.19263C>T (p.Asp6421=)

SNV
Germline

Chr2:178728663

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001436

rs_552531581

5 SubmittersRCV000547366 RCV000605203 RCV001591238

NM_001267550.2(TTN):c.44667G>C (p.Gly14889=)

SNV
Germline

Chr2:178624613

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995594

rs_746287950

4 SubmittersRCV000544398 RCV002404471 RCV004711157

NM_001267550.2(TTN):c.39919G>T (p.Val13307Phe)

SNV
Germline

Chr2:178649608

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1996555

rs_553280930

6 SubmittersRCV000531343 RCV001724049 RCV001700144

NM_001267550.2(TTN):c.39099T>C (p.Pro13033=)

SNV
Germline

Chr2:178652486

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1996865

rs_755793186

4 SubmittersRCV000727194 RCV001088791

NM_001267550.2(TTN):c.43120A>G (p.Ile14374Val)

SNV
Germline

Chr2:178633011

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1995936

rs_754227553

6 SubmittersRCV000555469 RCV001131047 RCV001131048 RCV001131049 RCV001131050 RCV001131046 RCV002261109 RCV002404466 RCV004527644

NM_001267550.2(TTN):c.17320G>A (p.Asp5774Asn)

SNV
Germline

Chr2:178731446

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2001859

rs_752660722

3 SubmittersRCV000528320 RCV001574168 RCV003150265

NM_001267550.2(TTN):c.41744C>T (p.Ala13915Val)

SNV
Germline

Chr2:178635580

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996214

rs_371426048

3 SubmittersRCV000539660 RCV000609462 RCV003139794

NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg)

SNV
Germline

Chr2:178662800

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA60973326

rs_997014833

6 SubmittersRCV000554897 RCV001579633 RCV002483434

NM_001267550.2(TTN):c.35924C>A (p.Ala11975Asp)

SNV
Germline

Chr2:178665743

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1997710

rs_182102510

3 SubmittersRCV000535697 RCV002483432 RCV005404659

NM_001267550.2(TTN):c.35797+1G>T

SNV
Germline

Chr2:178667235

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349507965

rs_917175304

2 SubmittersRCV000547235 RCV004722894

NM_001267550.2(TTN):c.40123G>A (p.Glu13375Lys)

SNV
Germline

Chr2:178647399

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60965007

rs_988844595

3 SubmittersRCV000559314 RCV000852862 RCV004808766

NM_001267550.2(TTN):c.34735C>T (p.Pro11579Ser)

SNV
Germline

Chr2:178673684

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1997992

rs_754511830

2 SubmittersRCV000545009 RCV000827044

NM_001267550.2(TTN):c.39709+7G>A

SNV
Germline

Chr2:178650744

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996625

rs_750763722

3 SubmittersRCV000552140 RCV001136167 RCV001132777 RCV001132778 RCV001132776 RCV001136168 RCV003431089

NM_001267550.2(TTN):c.32198-9C>A

SNV
Germline

Chr2:178688233

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1998689

rs_555383226

2 SubmittersRCV000543857 RCV003330773

NM_001267550.2(TTN):c.38898T>A (p.Val12966=)

SNV
Germline

Chr2:178652909

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996966

rs_200432936

3 SubmittersRCV000548400 RCV003437264

NM_001267550.2(TTN):c.33561G>T (p.Val11187=)

SNV
Germline

Chr2:178679913

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1998319

rs_763629416

4 SubmittersRCV000732978 RCV001087228 RCV005404656

NM_001267550.2(TTN):c.25180T>G (p.Tyr8394Asp)

SNV
Germline

Chr2:178717694

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60970212

rs_898098652

4 SubmittersRCV000527697 RCV002506345 RCV005404655 RCV005632469

NM_001267550.2(TTN):c.25063+1G>A

SNV
Germline

Chr2:178717942

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000298

rs_754247415

4 SubmittersRCV000550198 RCV000595351 RCV003338656

NM_001267550.2(TTN):c.32164G>A (p.Val10722Ile)

SNV
Germline

Chr2:178688710

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998714

rs_763742779

3 SubmittersRCV000553123 RCV003486866 RCV004791553

NM_001267550.2(TTN):c.8497G>T (p.Glu2833Ter)

SNV
Germline

Chr2:178770204

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349677253

rs_1553994874

1 SubmittersRCV000530624

NM_001267550.2(TTN):c.24013G>C (p.Glu8005Gln)

SNV
Germline

Chr2:178719377

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2000516

rs_757042397

5 SubmittersRCV000547861 RCV003139785 RCV002491034 RCV005404654 RCV003486864

NM_001267550.2(TTN):c.7634C>T (p.Thr2545Ile)

SNV
Germline

Chr2:178773330

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA61006134

rs_1016165797

2 SubmittersRCV000526249 RCV003486871

NM_001267550.2(TTN):c.6950G>A (p.Arg2317His)

SNV
Germline

Chr2:178774314

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004933

rs_764882950

7 SubmittersRCV000546592 RCV000770125 RCV001567645 RCV001824822 RCV002367862

NM_001267550.2(TTN):c.22529-7C>A

SNV
Germline

Chr2:178722141

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000812

rs_769076842

2 SubmittersRCV000558054 RCV000613068

NM_001267550.2(TTN):c.21962-6C>T

SNV
Germline

Chr2:178722943

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
not specified
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2000914

rs_374870814

6 SubmittersRCV000527935 RCV001131428 RCV001131425 RCV001131426 RCV001269144 RCV001131427 RCV001131429 RCV001712508 RCV001171046

NM_001267550.2(TTN):c.5080C>T (p.Leu1694Phe)

SNV
Germline

Chr2:178776784

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2005222

rs_769798880

4 SubmittersRCV000536531 RCV003313096 RCV005404662

NM_001267550.2(TTN):c.31645A>G (p.Ile10549Val)

SNV
Germline

Chr2:178692530

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1998891

rs_376613199

7 SubmittersRCV000537819 RCV001129104 RCV001136087 RCV001136088 RCV001136089 RCV001129105 RCV001584287 RCV001798883 RCV004586777

NM_001267550.2(TTN):c.33331G>A (p.Ala11111Thr)

SNV
Germline

Chr2:178681088

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998386

rs_545067681

2 SubmittersRCV000544688 RCV001130796 RCV001130793 RCV001130795 RCV001130792 RCV001130794

NM_001267550.2(TTN):c.31513+1G>A

SNV
Germline

Chr2:178693921

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349561364

rs_1553860401

1 SubmittersRCV000534671

NM_001267550.2(TTN):c.30967G>T (p.Glu10323Ter)

SNV
Germline

Chr2:178696105

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349566116

rs_1425322355

2 SubmittersRCV000545303 RCV003139789

NM_001267550.2(TTN):c.31422G>A (p.Val10474=)

SNV
Germline

Chr2:178694603

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1998968

rs_72650020

4 SubmittersRCV000533749 RCV000600984 RCV001136178 RCV001136179 RCV001136180 RCV001136181 RCV001136177

NM_001267550.2(TTN):c.28908C>A (p.Cys9636Ter)

SNV
Germline

Chr2:178707659

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349587149

rs_1553883443

1 SubmittersRCV000553206

NM_001267550.2(TTN):c.19496A>T (p.His6499Leu)

SNV
Germline

Chr2:178728328

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001385

rs_375173049

2 SubmittersRCV000553414 RCV001547863

NM_001267550.2(TTN):c.2494-5T>C

SNV
Germline

Chr2:178784356

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2005798

rs_370759512

3 SubmittersRCV000542966 RCV000730921 RCV001130682 RCV001130683 RCV001130685 RCV001129982 RCV001130684

NM_001267550.2(TTN):c.18684T>C (p.Phe6228=)

SNV
Germline

Chr2:178729472

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001559

rs_368427156

3 SubmittersRCV000558290 RCV001133395 RCV001134866 RCV001134867 RCV001134868 RCV001134869 RCV001722490

NM_001267550.2(TTN):c.29502A>G (p.Glu9834=)

SNV
Germline

Chr2:178705276

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1999365

rs_759468315

2 SubmittersRCV000536126 RCV000611230

NM_001267550.2(TTN):c.14002A>G (p.Thr4668Ala)

SNV
Germline

Chr2:178739231

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2002496

rs_758920941

4 SubmittersRCV000542699 RCV000770102 RCV001722488 RCV004537979

NM_001267550.2(TTN):c.27631T>C (p.Leu9211=)

SNV
Germline

Chr2:178712199

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA60965305

rs_563954136

4 SubmittersRCV000535040 RCV000727817 RCV001844195

NM_001267550.2(TTN):c.27667T>C (p.Ser9223Pro)

SNV
Germline

Chr2:178712163

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999746

rs_201253546

3 SubmittersRCV000547639 RCV002285358

NM_001267550.2(TTN):c.24879T>C (p.Ile8293=)

SNV
Germline

Chr2:178718127

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430286233

rs_1221548315

2 SubmittersRCV000558714 RCV003139787

NM_001267550.2(TTN):c.208G>A (p.Val70Met)

SNV
Germline

Chr2:178802225

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006391

rs_772248060

4 SubmittersRCV000529975 RCV000733548 RCV002420451

NM_001267550.2(TTN):c.12434A>C (p.Glu4145Ala)

SNV
Germline

Chr2:178740799

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002711

rs_372744369

2 SubmittersRCV000525087 RCV002323982

NM_001267550.2(TTN):c.22628C>T (p.Pro7543Leu)

SNV
Germline

Chr2:178722035

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2000798

rs_560272834

4 SubmittersRCV000546839 RCV001556090 RCV005418206

NM_001267550.2(TTN):c.21906C>T (p.Cys7302=)

SNV
Germline

Chr2:178723101

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA2000933

rs_370548693

4 SubmittersRCV000728181 RCV001085374 RCV004800459

NM_001267550.2(TTN):c.24972C>A (p.Asn8324Lys)

SNV
Germline

Chr2:178718034

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60970448

rs_879030954

2 SubmittersRCV000536238 RCV000840283

NM_001267550.2(TTN):c.8640G>A (p.Glu2880=)

SNV
Germline

Chr2:178770061

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA61003499

rs_879222360

6 SubmittersRCV000531115 RCV000595272 RCV002413551 RCV004537991

NM_001267550.2(TTN):c.23926G>A (p.Val7976Ile)

SNV
Germline

Chr2:178719566

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000545

rs_200395305

4 SubmittersRCV000533884 RCV000764344 RCV001536507

NM_001267550.2(TTN):c.20354C>T (p.Ser6785Leu)

SNV
Germline

Chr2:178725968

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001223

rs_201586695

3 SubmittersRCV000557256 RCV001131916 RCV001131912 RCV001131914 RCV001131913 RCV001131915 RCV003139782

NC_000002.12:g.178728782T>C

SNV
Germline

Chr2:178728782

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60977327

rs_1025136671

3 SubmittersRCV000611059 RCV000731843 RCV001089008

NM_001267550.2(TTN):c.20465A>G (p.Asn6822Ser)

SNV
Germline

Chr2:178725857

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001214

rs_371518764

3 SubmittersRCV000556465 RCV000595473

NM_001267550.2(TTN):c.2274C>T (p.His758=)

SNV
Germline

Chr2:178785944

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005865

rs_772664968

2 SubmittersRCV000536991 RCV002420452

NM_001267550.2(TTN):c.18709A>T (p.Arg6237Trp)

SNV
Germline

Chr2:178729447

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2001554

rs_750368911

3 SubmittersRCV000534457 RCV001805179 RCV005404653

NM_001267550.2(TTN):c.17319C>T (p.Asp5773=)

SNV
Germline

Chr2:178731447

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
not specified
Condition: not provided
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2001860

rs_760724229

7 SubmittersRCV000547616 RCV001170645 RCV001700143 RCV001726228 RCV001840643 RCV001840645 RCV001840646 RCV001840644 RCV004537981

NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met)

SNV
Germline

Chr2:178735687

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2002354

rs_371455094

6 SubmittersRCV000540278 RCV000592077 RCV003330772 RCV004735604

NM_001267550.2(TTN):c.1938+1G>T

SNV
Germline

Chr2:178789977

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005939

rs_774414270

3 SubmittersRCV000528221 RCV004017673 RCV004992337

NM_001267550.2(TTN):c.7618C>T (p.Arg2540Cys)

SNV
Germline

Chr2:178773346

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
not specified
Cardiomyopathy
6 conditions

Criteria Provided
Conflicting Classifications

CA2004773

rs_368574470

8 SubmittersRCV000537759 RCV000619486 RCV000714095 RCV001193720 RCV001170103 RCV002476170

NM_001267550.2(TTN):c.1185C>A (p.Ala395=)

SNV
Germline

Chr2:178794982

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430283084

rs_372346898

2 SubmittersRCV000532869 RCV002341344

NM_001267550.2(TTN):c.4646-7C>A

SNV
Germline

Chr2:178777324

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2005287

rs_758516007

3 SubmittersRCV000769126 RCV000828088 RCV001088152

NM_001267550.2(TTN):c.12679A>T (p.Thr4227Ser)

SNV
Germline

Chr2:178740554

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA349610964

rs_1553939161

2 SubmittersRCV000554544 RCV000605220

NM_001267550.2(TTN):c.4195G>T (p.Val1399Leu)

SNV
Germline

Chr2:178778887

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA349472224

rs_1554011657

2 SubmittersRCV000557575 RCV005404661

NM_001267550.2(TTN):c.2916G>A (p.Pro972=)

SNV
Germline

Chr2:178782990

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA2005680

rs_757569345

6 SubmittersRCV000593933 RCV001088320 RCV002438396 RCV005628258

NM_001267550.2(TTN):c.12011A>G (p.Glu4004Gly)

SNV
Germline

Chr2:178741222

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002775

rs_376000381

3 SubmittersRCV000559272 RCV001570411 RCV002456140

NM_001267550.2(TTN):c.427G>A (p.Glu143Lys)

SNV
Germline

Chr2:178800551

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006320

rs_754182768

4 SubmittersRCV000528780 RCV002330889 RCV001591239

NM_001267550.2(TTN):c.156C>G (p.Pro52=)

SNV
Germline

Chr2:178802277

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006406

rs_72647842

5 SubmittersRCV000530794 RCV002060328 RCV002271526 RCV002404465

NM_001267550.2(TTN):c.11311+1G>T

SNV
Germline

Chr2:178753123

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349668262

rs_1553963537

2 SubmittersRCV000536709 RCV002431626

NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro)

SNV
Germline

Chr2:178757566

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA2004068

rs_774004409

5 SubmittersRCV000547390 RCV000762302 RCV002483429 RCV005404649

NM_001267550.2(TTN):c.9988+2T>C

SNV
Germline

Chr2:178764525

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349673957

rs_1298389127

1 SubmittersRCV000551120

NM_001267550.2(TTN):c.8220G>A (p.Trp2740Ter)

SNV
Germline

Chr2:178770572

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349677873

rs_1553995639

1 SubmittersRCV000560362

NM_001267550.2(TTN):c.3309C>A (p.Cys1103Ter)

SNV
Germline

Chr2:178782283

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349486609

rs_1467686861

1 SubmittersRCV000552951

NM_001267550.2(TTN):c.2745C>G (p.Arg915=)

SNV
Germline

Chr2:178784100

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005747

rs_773568773

2 SubmittersRCV000547165 RCV002438395

NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile)

SNV
Germline

Chr2:71656162

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1707094

rs_143895253

6 SubmittersRCV000552425 RCV000595695 RCV001507565 RCV001274843 RCV003960357

NM_001130987.2(DYSF):c.5147G>A (p.Arg1716His)

SNV
Germline

Chr2:71664411

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1707257

rs_138472236

3 SubmittersRCV000532679 RCV001834797 RCV004024174

NM_001130987.2(DYSF):c.677C>T (p.Pro226Leu)

SNV
Germline

Chr2:71513839

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705412

rs_201980470

3 SubmittersRCV000548747 RCV001829592 RCV005632487

NM_001130987.2(DYSF):c.2393G>A (p.Arg798His)

SNV
Germline

Chr2:71561928

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Conflicting Classifications

CA1706135

rs_763456750

5 SubmittersRCV000550765 RCV001274454 RCV001558981 RCV005027652

NM_001130987.2(DYSF):c.3139C>G (p.Pro1047Ala)

SNV
Germline

Chr2:71570652

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA347216998

rs_1358370392

5 SubmittersRCV000551403 RCV001272824 RCV003144341 RCV004975662

NM_001130987.2(DYSF):c.5146C>T (p.Arg1716Cys)

SNV
Germline

Chr2:71664410

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707255

rs_771735871

3 SubmittersRCV000554512 RCV001508442 RCV001834796

NM_001130987.2(DYSF):c.6247C>T (p.Arg2083Trp)

SNV
Germline

Chr2:71682603

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707654

rs_185617318

4 SubmittersRCV000533199 RCV001755866 RCV001834801

NM_001130987.2(DYSF):c.5467C>T (p.Gln1823Ter)

SNV
Germline

Chr2:71668763

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347221697

rs_1553415109

2 SubmittersRCV000531309 RCV006447386

NM_001130987.2(DYSF):c.2167G>A (p.Val723Met)

SNV
Germline

Chr2:71556022

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Conflicting Classifications

CA1706074

rs_182450244

4 SubmittersRCV000547561 RCV000734858 RCV001834789 RCV002506358

NM_001130987.2(DYSF):c.4936A>G (p.Ile1646Val)

SNV
Germline

Chr2:71660584

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Conflicting Classifications

CA1707194

rs_138357301

6 SubmittersRCV000558437 RCV000592365 RCV001271549 RCV005367398

NM_004393.6(DAG1):c.384G>A (p.Val128=)

SNV
Germline

Chr3:49530895

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA2398893

rs_143829263

2 SubmittersRCV000729147 RCV001450162

NM_021942.6(TRAPPC11):c.2694+1G>T

SNV
Germline

Chr4:183697569

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

CA358872791

rs_1186858080

1 SubmittersRCV000539818

NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter)

SNV
Germline

Chr4:183682810

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18
Limb-girdle muscular dystrophy
Condition: not provided
Colon adenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA3151816

rs_140403642

4 SubmittersRCV000554957 RCV000825637 RCV005091280 RCV005897022

NM_031372.4(HNRNPDL):c.314C>T (p.Thr105Ile)

SNV
Germline

Chr4:82429377

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1G

Criteria Provided
Conflicting Classifications

CA2985060

rs_763175161

2 SubmittersRCV000535298

NM_031372.4(HNRNPDL):c.113T>C (p.Leu38Pro)

SNV
Germline

Chr4:82429578

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1G
not specified

Criteria Provided
Conflicting Classifications

CA2985143

rs_373042980

3 SubmittersRCV000552897 RCV004023981

NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)

SNV
Germline

Chr4:52028807

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2918367

rs_751427686

7 SubmittersRCV000544134 RCV004568823

NM_031372.4(HNRNPDL):c.110A>C (p.Gln37Pro)

SNV
Germline

Chr4:82429581

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1G
not specified

Criteria Provided
Conflicting Classifications

CA2985145

rs_911762606

3 SubmittersRCV000540408 RCV004023980

NM_000337.6(SGCD):c.832G>A (p.Ala278Thr)

SNV
Germline

Chr5:156759349

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2F
Qualitative or quantitative defects of delta-sarcoglycan
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3530706

rs_753240054

3 SubmittersRCV000524650 RCV001152446 RCV003139765

NM_000337.6(SGCD):c.767C>T (p.Thr256Met)

SNV
Germline

Chr5:156759284

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2F
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3530692

rs_578056399

4 SubmittersRCV000526167 RCV001170140 RCV003482280

NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu)

SNV
Germline

Chr7:16308619

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4169526

rs_770257307

4 SubmittersRCV000528327 RCV001570151 RCV004024226

NM_201384.3(PLEC):c.13449C>T (p.Ser4483=)

SNV
Germline

Chr8:143916372

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4923806

rs_782187551

3 SubmittersRCV000528968 RCV000598082

NM_201384.3(PLEC):c.13097C>T (p.Thr4366Ile)

SNV
Germline

Chr8:143916724

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4923903

rs_200807583

3 SubmittersRCV000734209 RCV001080164 RCV002530076

NM_201384.3(PLEC):c.12781G>A (p.Ala4261Thr)

SNV
Germline

Chr8:143917040

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4923981

rs_200924154

5 SubmittersRCV000596978 RCV001087492 RCV004538038

NM_201384.3(PLEC):c.8932C>T (p.Arg2978Cys)

SNV
Germline

Chr8:143920889

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925135

rs_782297488

2 SubmittersRCV000538074 RCV003133347

NM_201384.3(PLEC):c.6045A>T (p.Lys2015Asn)

SNV
Germline

Chr8:143923884

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4926128

rs_200540800

5 SubmittersRCV000556675 RCV001539647 RCV006264063

NM_201384.3(PLEC):c.5507C>T (p.Ala1836Val)

SNV
Germline

Chr8:143924422

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926342

rs_782216341

4 SubmittersRCV000546115 RCV001561642 RCV004649201

NM_201384.3(PLEC):c.1506G>C (p.Gln502His)

SNV
Germline

Chr8:143933024

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4927939

rs_571497788

4 SubmittersRCV000592909 RCV000726708 RCV001089178

NM_201384.3(PLEC):c.759C>T (p.Thr253=)

SNV
Germline

Chr8:143935077

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928325

rs_377118309

4 SubmittersRCV000592891 RCV001080390 RCV004737821

NM_201384.3(PLEC):c.13641C>G (p.Ala4547=)

SNV
Germline

Chr8:143916180

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA4923740

rs_782535880

4 SubmittersRCV000727741 RCV001086615 RCV005896895

NM_201384.3(PLEC):c.11657G>A (p.Arg3886His)

SNV
Germline

Chr8:143918164

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924277

rs_368152307

6 SubmittersRCV000534635 RCV000591057 RCV003243190

NM_201384.3(PLEC):c.11476C>T (p.Arg3826Cys)

SNV
Germline

Chr8:143918345

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924344

rs_781836500

6 SubmittersRCV000728532 RCV001088642 RCV002529028 RCV004543278

NM_032237.5(POMK):c.704A>G (p.Asn235Ser)

SNV
Germline

Chr8:43122528

Conflicting classifications of pathogenicity

Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4736340

rs_200742772

6 SubmittersRCV000534186 RCV001358202 RCV001591278 RCV002530236

NM_201384.3(PLEC):c.11597G>A (p.Arg3866His)

SNV
Germline

Chr8:143918224

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924299

rs_377150241

6 SubmittersRCV000556602 RCV000596912 RCV003343915

NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln)

SNV
Germline

Chr8:143919691

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4924742

rs_375724891

5 SubmittersRCV000525646 RCV000585576 RCV000610926

NM_201384.3(PLEC):c.8062G>A (p.Val2688Met)

SNV
Germline

Chr8:143921759

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925432

rs_562229143

3 SubmittersRCV000529343 RCV003133346 RCV004955650

NM_201384.3(PLEC):c.10499G>A (p.Arg3500His)

SNV
Germline

Chr8:143919322

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924629

rs_201387815

6 SubmittersRCV000560530 RCV000594196 RCV002527964

NM_201384.3(PLEC):c.7686C>T (p.Ala2562=)

SNV
Germline

Chr8:143922135

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925545

rs_534269714

3 SubmittersRCV000731783 RCV001079717 RCV004538043

NM_201384.3(PLEC):c.6642G>A (p.Ala2214=)

SNV
Germline

Chr8:143923287

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925917

rs_559736151

4 SubmittersRCV000553328 RCV000595655 RCV000727531

NM_201384.3(PLEC):c.9756G>A (p.Thr3252=)

SNV
Germline

Chr8:143920065

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924863

rs_782717194

2 SubmittersRCV000548004 RCV000733875

NM_201384.3(PLEC):c.6438G>A (p.Ala2146=)

SNV
Germline

Chr8:143923491

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925992

rs_374211586

6 SubmittersRCV000535874 RCV000593117 RCV001088364 RCV004543193

NM_201384.3(PLEC):c.6065G>A (p.Arg2022Gln)

SNV
Germline

Chr8:143923864

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926121

rs_782332277

4 SubmittersRCV000535287 RCV003133341 RCV003446150 RCV004955648

NM_201384.3(PLEC):c.6037C>T (p.Arg2013Trp)

SNV
Germline

Chr8:143923892

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926133

rs_34893635

3 SubmittersRCV000536048 RCV004538042 RCV005632490

NM_201384.3(PLEC):c.5951G>A (p.Arg1984His)

SNV
Germline

Chr8:143923978

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926169

rs_575072418

4 SubmittersRCV000557739 RCV000591880

NM_201384.3(PLEC):c.8454C>T (p.Pro2818=)

SNV
Germline

Chr8:143921367

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925304

rs_782419323

2 SubmittersRCV000528040 RCV000731692

NM_201384.3(PLEC):c.5879G>A (p.Arg1960His)

SNV
Germline

Chr8:143924050

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926205

rs_367679924

5 SubmittersRCV000533391 RCV000727803 RCV004024180

NM_201384.3(PLEC):c.5602C>T (p.Arg1868Trp)

SNV
Germline

Chr8:143924327

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4926305

rs_200543521

4 SubmittersRCV000549715 RCV001591253 RCV006264062

NM_201384.3(PLEC):c.7369C>T (p.Arg2457Cys)

SNV
Germline

Chr8:143922560

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925674

rs_200652637

4 SubmittersRCV000533256 RCV000601732 RCV003133344

NM_201384.3(PLEC):c.4758C>G (p.Ala1586=)

SNV
Germline

Chr8:143925171

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4926547

rs_782073897

2 SubmittersRCV000734425 RCV001088965

NM_201384.3(PLEC):c.792C>T (p.Arg264=)

SNV
Germline

Chr8:143935044

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928317

rs_782391508

3 SubmittersRCV000727740 RCV001084112 RCV004737822

NM_201384.3(PLEC):c.3687G>T (p.Arg1229=)

SNV
Germline

Chr8:143927479

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926983

rs_782037394

2 SubmittersRCV000526513 RCV000596341

NM_201384.3(PLEC):c.2163C>T (p.Asn721=)

SNV
Germline

Chr8:143931952

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927637

rs_374712759

4 SubmittersRCV000727065 RCV001088419

NM_201384.3(PLEC):c.10431C>T (p.Pro3477=)

SNV
Germline

Chr8:143919390

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4924655

rs_200509064

2 SubmittersRCV000594550 RCV001078594

NM_201384.3(PLEC):c.10043G>A (p.Arg3348Gln)

SNV
Germline

Chr8:143919778

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924775

rs_556517027

2 SubmittersRCV000576198 RCV003133382

NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro)

SNV
Germline

Chr8:143922559

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
PLEC-related disorder
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4925672

rs_199504105

8 SubmittersRCV000553900 RCV000727708 RCV004737820 RCV005357603

NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr)

SNV
Germline

Chr8:143923088

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925834

rs_200618217

6 SubmittersRCV000529959 RCV000609012 RCV000727816 RCV004024181

NM_201384.3(PLEC):c.6840C>T (p.Ala2280=)

SNV
Germline

Chr8:143923089

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4925835

rs_202182619

2 SubmittersRCV000727856 RCV001421530

NM_201384.3(PLEC):c.6416G>A (p.Arg2139His)

SNV
Germline

Chr8:143923513

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926003

rs_372652727

8 SubmittersRCV000536622 RCV000593069 RCV002530083 RCV004737819

NM_201384.3(PLEC):c.6343G>A (p.Glu2115Lys)

SNV
Germline

Chr8:143923586

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
PLEC-related disorder
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA4926031

rs_782713908

7 SubmittersRCV000543341 RCV000727828 RCV001335327 RCV004543192 RCV004955649 RCV005435017

NM_201384.3(PLEC):c.6241G>A (p.Gly2081Ser)

SNV
Germline

Chr8:143923688

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
not specified
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926072

rs_782450868

4 SubmittersRCV000526688 RCV000605974 RCV002530081 RCV003133342

NM_201384.3(PLEC):c.3639C>T (p.Arg1213=)

SNV
Germline

Chr8:143927527

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926996

rs_782293819

2 SubmittersRCV000534414 RCV000732260

NM_201384.3(PLEC):c.897G>A (p.Thr299=)

SNV
Germline

Chr8:143934858

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4928266

rs_377035835

6 SubmittersRCV000593002 RCV001450091 RCV004543194 RCV006264064

NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)

SNV
Germline

Chr9:131518533

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA375311567

rs_1554780670

2 SubmittersRCV000548536 RCV003476298

NM_001077365.2(POMT1):c.1448G>A (p.Ser483Asn)

SNV
Germline

Chr9:131518919

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5293697

rs_750937093

2 SubmittersRCV003767049 RCV005463016

NM_032237.5(POMK):c.589G>T (p.Val197Leu)

SNV
Germline

Chr8:43122413

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Limb-girdle muscular dystrophy due to POMK deficiency
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4736311

rs_374943200

4 SubmittersRCV000556521 RCV002530235 RCV005632498

NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser)

SNV
Germline

Chr9:131518862

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA5293687

rs_746849558

2 SubmittersRCV000558807 RCV003459248

NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser)

SNV
Germline

Chr9:131508971

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5293287

rs_182295674

5 SubmittersRCV000526210 RCV000732557 RCV006362462

NM_213599.3(ANO5):c.813C>G (p.Tyr271Ter)

SNV
Germline

Chr11:22239619

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA379920473

rs_1380525804

2 SubmittersRCV000560191 RCV001785657 RCV005208715

NM_213599.3(ANO5):c.18C>T (p.Leu6=)

SNV
Germline

Chr11:22193510

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Conflicting Classifications

CA473401952

rs_1257688225

2 SubmittersRCV000547213 RCV000597491

NM_213599.3(ANO5):c.148C>T (p.Arg50Ter)

SNV
Germline

Chr11:22218255

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA379924765

rs_1168346560

3 SubmittersRCV000545507 RCV000762829 RCV005000183

NM_213599.3(ANO5):c.1361C>T (p.Thr454Met)

SNV
Germline

Chr11:22257708

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5923226

rs_148698633

2 SubmittersRCV000532929 RCV003139837

NM_213599.3(ANO5):c.1823T>C (p.Ile608Thr)

SNV
Germline

Chr11:22262968

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5923370

rs_763783201

2 SubmittersRCV000537022 RCV003139838

NM_213599.3(ANO5):c.1963T>C (p.Trp655Arg)

SNV
Germline

Chr11:22270376

Pathogenic/Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA218774184

rs_912174567

3 SubmittersRCV000535657 RCV001268144 RCV006264055

NM_213599.3(ANO5):c.412G>T (p.Glu138Ter)

SNV
Germline

Chr11:22227350

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

CA379919451

rs_1554924356

1 SubmittersRCV000527894

NM_000231.3(SGCG):c.702+1G>C

SNV
Germline

Chr13:23320761

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA387502962

rs_1555248000

1 SubmittersRCV000532127

NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile)

SNV
Germline

Chr15:42402920

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA7511461

rs_138172448

7 SubmittersRCV000546918 RCV000734564 RCV002483453

NM_000070.3(CAPN3):c.270C>T (p.Ser90=)

SNV
Germline

Chr15:42360075

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7510885

rs_753686702

2 SubmittersRCV001088598 RCV000729694

NM_000070.3(CAPN3):c.1818G>A (p.Ser606=)

SNV
Germline

Chr15:42408228

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Glioma susceptibility 1
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA7511568

rs_28364528

5 SubmittersRCV000547411 RCV000596379 RCV005896832 RCV005896833

NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)

SNV
Germline

Chr15:42394325

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Condition: not provided

Reviewed By Expert Panel

CA7511243

rs_767106920

9 SubmittersRCV000537811 RCV002282221 RCV002491061 RCV003476295 RCV003144340

NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)

SNV
Germline

Chr15:42410432

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
CAPN3-related disorder
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA7511744

rs_200379491

17 SubmittersRCV000542626 RCV000723534 RCV002476173 RCV003476296 RCV004538015 RCV005600975

NM_000070.3(CAPN3):c.945+5G>A

SNV
Germline

Chr15:42390101

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
not specified

Criteria Provided
Conflicting Classifications

CA7511175

rs_773547765

4 SubmittersRCV000557483 RCV005407723

NM_000070.3(CAPN3):c.1263G>A (p.Leu421=)

SNV
Germline

Chr15:42399561

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA7511306

rs_372450879

4 SubmittersRCV000731053 RCV001083523 RCV004541719

NM_000023.4(SGCA):c.58G>A (p.Asp20Asn)

SNV
Germline

Chr17:50167388

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2D
Arrhythmogenic right ventricular cardiomyopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8643685

rs_759284746

4 SubmittersRCV000528429 RCV000852721 RCV005742067

NM_003673.4(TCAP):c.282C>T (p.Phe94=)

SNV
Germline

Chr17:39665887

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2G
Hypertrophic cardiomyopathy 25
Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 25
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8532889

rs_749565002

3 SubmittersRCV001128395 RCV001128394 RCV001483676 RCV002438368

NM_000023.4(SGCA):c.724G>T (p.Val242Phe)

SNV
Germline

Chr17:50169231

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA400181014

rs_200166783

7 SubmittersRCV000553098

NM_000023.4(SGCA):c.88C>T (p.Pro30Ser)

SNV
Germline

Chr17:50167418

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400176582

rs_1327595249

1 SubmittersRCV000531212

NM_024301.5(FKRP):c.1036T>C (p.Ser346Pro)

SNV
Germline

Chr19:46756486

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I

No Assertion Criteria Provided

CA406496519

rs_753811189

1 SubmittersRCV000576484

NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter)

SNV
Germline

Chr2:178577785

Likely pathogenic

Hypertrophic cardiomyopathy 9
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349671539

rs_1213930919

6 SubmittersRCV000578155 RCV001039553 RCV002330994 RCV003332208 RCV004796238

NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter)

SNV
Germline

Chr2:178535729

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349422586

rs_1260821931

5 SubmittersRCV000579133 RCV000618233 RCV000705335 RCV002497223

NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter)

SNV
Germline

Chr2:178536043

Likely pathogenic

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349424907

rs_1553501227

4 SubmittersRCV000578936 RCV000844995 RCV002384275 RCV006556292

NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter)

SNV
Germline

Chr2:178552203

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349509363

rs_1553539391

6 SubmittersRCV000578702 RCV001046151 RCV002289846 RCV004024595

NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter)

SNV
Germline

Chr2:178560364

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349548048

rs_748689777

5 SubmittersRCV000578933 RCV001067487 RCV005502839 RCV005410907

NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)

SNV
Germline

Chr2:178563475

Pathogenic/Likely pathogenic

Condition: not provided
6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA60986821

rs_869178171

6 SubmittersRCV000579232 RCV000763467 RCV001379494 RCV001798900 RCV003159974

NM_001267550.2(TTN):c.17461+1G>T

SNV
Germline

Chr2:178731304

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2001830

rs_747990127

3 SubmittersRCV000579361 RCV000811252 RCV004530628

NM_001267550.2(TTN):c.12643C>T (p.Gln4215Ter)

SNV
Germline

Chr2:178740590

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2002683

rs_368329612

2 SubmittersRCV000579144 RCV006556289

NM_001267550.2(TTN):c.7762A>T (p.Lys2588Ter)

SNV
Germline

Chr2:178773202

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349679037

rs_1553999955

3 SubmittersRCV001041732 RCV001697390 RCV006362478

NM_001267550.2(TTN):c.6244G>T (p.Glu2082Ter)

SNV
Germline

Chr2:178775620

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349441942

rs_750064248

3 SubmittersRCV000732914 RCV001327301

NM_001130987.2(DYSF):c.1149+5G>A

SNV
Germline

Chr2:71520909

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA49763127

rs_1023002894

4 SubmittersRCV000579081 RCV003330808

NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter)

SNV
Germline

Chr2:71679193

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347226507

rs_1553420848

3 SubmittersRCV000578874 RCV001853842 RCV002509453

NM_201384.3(PLEC):c.12282C>T (p.Asn4094=)

SNV
Germline

Chr8:143917539

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4924126

rs_536268706

2 SubmittersRCV000578773 RCV002529052

NM_001079802.2(FKTN):c.648-1243G>T

SNV
Germline

Chr9:105606576

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Walker-Warburg congenital muscular dystrophy
Dilated cardiomyopathy 1X

Criteria Provided
Multiple Submitters
No Conflicts

CA658683548

rs_1554754182

4 SubmittersRCV000587372 RCV000763612 RCV001217950 RCV003471945

NM_001130987.2(DYSF):c.3085+1G>T

SNV
Germline

Chr2:71570335

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347216871

rs_1553555585

2 SubmittersRCV000590966 RCV005409680

NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)

SNV
Germline

Chr15:42388935

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA7511089

rs_369784333

10 SubmittersRCV000597389 RCV000673077 RCV002509457 RCV003471951 RCV005010564

NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro)

SNV
Germline

Chr2:178730700

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA2001734

rs_776790387

7 SubmittersRCV000591846 RCV000770088 RCV001130806 RCV001130807 RCV001130808 RCV001130809 RCV001133775

NM_000070.3(CAPN3):c.363C>G (p.Ile121Met)

SNV
Germline

Chr15:42384536

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA269832799

rs_901764287

4 SubmittersRCV000595690 RCV002532362 RCV005000364

NM_001130987.2(DYSF):c.5785-824C>T

SNV
Germline

Chr2:71673373

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Reviewed By Expert Panel

CA658795804

rs_1285082850

7 SubmittersRCV000594297 RCV001853996 RCV001731152 RCV003117359 RCV005409681

NM_001267550.2(TTN):c.27652G>T (p.Val9218Phe)

SNV
Germline

Chr2:178712178

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1999749

rs_746558975

6 SubmittersRCV000596415 RCV001130452 RCV001135523 RCV001130453 RCV001130454 RCV001130455 RCV006459635

NM_201384.3(PLEC):c.2268C>T (p.Thr756=)

SNV
Germline

Chr8:143931570

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
not specified

Criteria Provided
Conflicting Classifications

CA4927598

rs_371267446

4 SubmittersRCV000712726 RCV001084463 RCV005000365

NM_201384.3(PLEC):c.6038G>A (p.Arg2013Gln)

SNV
Germline

Chr8:143923891

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases
6 conditions

Criteria Provided
Conflicting Classifications

CA4926132

rs_369708974

5 SubmittersRCV000594805 RCV001485099 RCV005702252 RCV005392147

NM_201384.3(PLEC):c.2541C>T (p.Ser847=)

SNV
Germline

Chr8:143930215

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4927483

rs_374688294

4 SubmittersRCV000594610 RCV000725461 RCV001459051

NM_001267550.2(TTN):c.5740G>A (p.Ala1914Thr)

SNV
Germline

Chr2:178776124

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005144

rs_118161093

5 SubmittersRCV000725466 RCV001086587 RCV002350421

NM_201384.3(PLEC):c.7592G>A (p.Arg2531His)

SNV
Germline

Chr8:143922229

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925572

rs_369729231

3 SubmittersRCV000598086 RCV002530953

NM_201384.3(PLEC):c.3279G>A (p.Leu1093=)

SNV
Germline

Chr8:143927974

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4927139

rs_371818099

3 SubmittersRCV000594816 RCV000725578 RCV001078582

NM_201384.3(PLEC):c.12444G>A (p.Thr4148=)

SNV
Germline

Chr8:143917377

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924080

rs_143548638

3 SubmittersRCV000596312 RCV001087417 RCV004543308

NM_201384.3(PLEC):c.5811G>A (p.Ala1937=)

SNV
Germline

Chr8:143924118

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926233

rs_199990259

5 SubmittersRCV000725612 RCV001088172

NM_001267550.2(TTN):c.43161G>A (p.Glu14387=)

SNV
Germline

Chr2:178632970

Conflicting classifications of pathogenicity

Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1995930

rs_765214404

6 SubmittersRCV000597605 RCV001131044 RCV001131043 RCV001131045 RCV001130347 RCV001130348 RCV002061996 RCV002404597 RCV005404704

NM_001267550.2(TTN):c.6359G>A (p.Arg2120Gln)

SNV
Germline

Chr2:178775505

Conflicting classifications of pathogenicity

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005064

rs_141142920

6 SubmittersRCV000592201 RCV001131431 RCV001131432 RCV001128781 RCV001131430 RCV001170106 RCV001128780 RCV002367996

NM_001267550.2(TTN):c.103787G>A (p.Arg34596His)

SNV
Germline

Chr2:178532828

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA1985541

rs_762235688

5 SubmittersRCV000598204 RCV001040325 RCV002395513 RCV002483573

NM_001267550.2(TTN):c.105261G>A (p.Thr35087=)

SNV
Germline

Chr2:178531354

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985286

rs_556741970

4 SubmittersRCV000593807 RCV001460979 RCV002413670 RCV003150291

NM_201384.3(PLEC):c.9406G>A (p.Ala3136Thr)

SNV
Germline

Chr8:143920415

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4924979

rs_200680102

5 SubmittersRCV000593219 RCV000764748 RCV001241498

NM_201384.3(PLEC):c.113-6C>T

SNV
Germline

Chr8:143938698

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928625

rs_782235036

4 SubmittersRCV000594097 RCV002530956 RCV004543309

NM_201384.3(PLEC):c.9926G>A (p.Arg3309His)

SNV
Germline

Chr8:143919895

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924812

rs_201369301

5 SubmittersRCV000592614 RCV001088888 RCV004527670

NM_201384.3(PLEC):c.804G>A (p.Val268=)

SNV
Germline

Chr8:143935032

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA463536663

rs_1554721745

3 SubmittersRCV000592079 RCV000725667 RCV003767350

NM_001267550.2(TTN):c.104298T>C (p.Ala34766=)

SNV
Germline

Chr2:178532317

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985446

rs_751788327

5 SubmittersRCV000725693 RCV001086141 RCV002404598

NM_001267550.2(TTN):c.93570T>A (p.Asn31190Lys)

SNV
Germline

Chr2:178548056

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987281

rs_746309005

5 SubmittersRCV000643852 RCV000594645

NM_001267550.2(TTN):c.69204C>A (p.Gly23068=)

SNV
Germline

Chr2:178577131

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990972

rs_188919648

3 SubmittersRCV000595417 RCV001456795 RCV004024698

NM_201384.3(PLEC):c.7061C>T (p.Ala2354Val)

SNV
Germline

Chr8:143922868

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925770

rs_370003608

6 SubmittersRCV000594258 RCV000725806 RCV000688855 RCV004737852 RCV005392148

NM_201384.3(PLEC):c.9577G>T (p.Gly3193Cys)

SNV
Germline

Chr8:143920244

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924925

rs_201402970

5 SubmittersRCV000595300 RCV000703595 RCV004024699

NM_201384.3(PLEC):c.8981G>A (p.Arg2994His)

SNV
Germline

Chr8:143920840

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925119

rs_200970115

5 SubmittersRCV000598514 RCV000812370 RCV004955676

NM_201384.3(PLEC):c.6399G>A (p.Ala2133=)

SNV
Germline

Chr8:143923530

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926008

rs_375489890

3 SubmittersRCV000595645 RCV000648586 RCV004737853

NM_001267550.2(TTN):c.54811+10C>T

SNV
Germline

Chr2:178603866

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60979573

rs_796651993

6 SubmittersRCV000597465 RCV000726045 RCV003767351

NM_201384.3(PLEC):c.6243C>T (p.Gly2081=)

SNV
Germline

Chr8:143923686

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926070

rs_782746363

3 SubmittersRCV000594122 RCV001239242

NM_001267550.2(TTN):c.9639C>T (p.Ser3213=)

SNV
Germline

Chr2:178766445

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA2004275

rs_760666570

5 SubmittersRCV000595458 RCV001440741 RCV004678754 RCV005404705

NM_012470.4(TNPO3):c.189T>C (p.Ala63=)

SNV
Germline

Chr7:129018089

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F
TNPO3-related disorder

Criteria Provided
Conflicting Classifications

CA166224421

rs_755216120

3 SubmittersRCV000594319 RCV002530958 RCV003962660

NM_201384.3(PLEC):c.2536G>A (p.Gly846Ser)

SNV
Germline

Chr8:143930220

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927486

rs_189233521

4 SubmittersRCV000597334 RCV001088460 RCV004543310

NM_000023.4(SGCA):c.366G>A (p.Leu122=)

SNV
Germline

Chr17:50168000

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
SGCA-related disorder

Criteria Provided
Conflicting Classifications

CA8643779

rs_147739328

6 SubmittersRCV000726142 RCV001083525 RCV003952940

NM_201384.3(PLEC):c.7665G>A (p.Ala2555=)

SNV
Germline

Chr8:143922156

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925553

rs_567558623

2 SubmittersRCV000595134 RCV001088182

NM_201384.3(PLEC):c.3711G>T (p.Pro1237=)

SNV
Germline

Chr8:143927455

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA463535556

rs_572124553

2 SubmittersRCV000595206 RCV000648587

NM_201384.3(PLEC):c.9896G>A (p.Arg3299Gln)

SNV
Germline

Chr8:143919925

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924820

rs_368318946

6 SubmittersRCV000594923 RCV000805840 RCV002530960

NM_201384.3(PLEC):c.9750G>A (p.Thr3250=)

SNV
Germline

Chr8:143920071

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924865

rs_200774407

2 SubmittersRCV000596636 RCV001478551

NM_201384.3(PLEC):c.2094G>A (p.Ala698=)

SNV
Germline

Chr8:143932021

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4927653

rs_373347166

4 SubmittersRCV000596606 RCV000648655 RCV005392149

NM_201384.3(PLEC):c.13458C>T (p.Thr4486=)

SNV
Germline

Chr8:143916363

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4923804

rs_782560017

3 SubmittersRCV000592941 RCV001484245

NM_201384.3(PLEC):c.5469C>T (p.Asp1823=)

SNV
Germline

Chr8:143924460

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926357

rs_771101893

3 SubmittersRCV000595552 RCV001419744 RCV004543312

NM_001267550.2(TTN):c.66105A>T (p.Lys22035Asn)

SNV
Germline

Chr2:178582351

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1991578

rs_373681189

3 SubmittersRCV000598416 RCV000643463 RCV003486887

NM_201384.3(PLEC):c.5638C>T (p.Leu1880=)

SNV
Germline

Chr8:143924291

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926285

rs_782790022

2 SubmittersRCV000598453 RCV003767352

NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met)

SNV
Germline

Chr2:178712437

Conflicting classifications of pathogenicity

Condition: not provided
Left ventricular hypertrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1999797

rs_199793620

9 SubmittersRCV000593381 RCV000678758 RCV001082337 RCV001662639

NM_201384.3(PLEC):c.4247G>A (p.Arg1416His)

SNV
Germline

Chr8:143925682

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926721

rs_565291398

4 SubmittersRCV000591344 RCV001490049 RCV003352932

NM_201384.3(PLEC):c.3457C>T (p.Leu1153=)

SNV
Germline

Chr8:143927709

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA463535923

rs_1289830071

2 SubmittersRCV000595214 RCV001503232

NM_001267550.2(TTN):c.31596C>T (p.Val10532=)

SNV
Germline

Chr2:178692579

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430131640

rs_1553858068

2 SubmittersRCV000598272 RCV001402332

NM_201384.3(PLEC):c.5582C>T (p.Ala1861Val)

SNV
Germline

Chr8:143924347

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926316

rs_200949161

6 SubmittersRCV000727203 RCV001079937 RCV004024702 RCV004543313

NM_001267550.2(TTN):c.68997C>A (p.Thr22999=)

SNV
Germline

Chr2:178577338

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1991006

rs_369068922

6 SubmittersRCV000595925 RCV001088759 RCV002331006 RCV005404706

NM_001267550.2(TTN):c.28819G>A (p.Val9607Met)

SNV
Germline

Chr2:178707748

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1999513

rs_375807609

2 SubmittersRCV000595600 RCV000643300

NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser)

SNV
Germline

Chr2:178778932

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA2005396

rs_144609506

8 SubmittersRCV000598532 RCV000643133 RCV002232229 RCV002358653 RCV002467915

NM_001267550.2(TTN):c.34119G>A (p.Glu11373=)

SNV
Germline

Chr2:178677793

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1998138

rs_548399416

3 SubmittersRCV000597324 RCV001134849 RCV001134850 RCV001134851 RCV001134852 RCV001134848 RCV002061997

NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu)

SNV
Germline

Chr2:178713149

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Conflicting Classifications

CA1999892

rs_781351100

5 SubmittersRCV000595566 RCV000643599 RCV000764341

NM_201384.3(PLEC):c.6843G>A (p.Ala2281=)

SNV
Germline

Chr8:143923086

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925832

rs_782156855

2 SubmittersRCV000592039 RCV001087686

NM_001267550.2(TTN):c.95351C>T (p.Ala31784Val)

SNV
Germline

Chr2:178545885

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA349462688

rs_1553520967

4 SubmittersRCV000598013 RCV001382385 RCV005407774

NM_001267550.2(TTN):c.31349-4A>T

SNV
Germline

Chr2:178694680

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60991703

rs_1029227575

3 SubmittersRCV000596769 RCV001084080 RCV004788005

NM_201384.3(PLEC):c.8735C>T (p.Ala2912Val)

SNV
Germline

Chr8:143921086

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA187611776

rs_935096656

4 SubmittersRCV000595740 RCV001853999

NM_201384.3(PLEC):c.4494C>T (p.Arg1498=)

SNV
Germline

Chr8:143925435

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA463535329

rs_1458728542

2 SubmittersRCV000598030 RCV002061998

NM_201384.3(PLEC):c.12516C>T (p.Ser4172=)

SNV
Germline

Chr8:143917305

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924066

rs_782180398

2 SubmittersRCV000591630 RCV001453790

NM_001267550.2(TTN):c.101037G>A (p.Gln33679=)

SNV
Germline

Chr2:178535578

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1985940

rs_377190399

6 SubmittersRCV000596585 RCV001078755 RCV001798909 RCV002384292 RCV005404707

NM_001267550.2(TTN):c.89313C>T (p.Val29771=)

SNV
Germline

Chr2:178553692

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1987944

rs_746897918

3 SubmittersRCV000591198 RCV002367998 RCV002065140

NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)

SNV
Germline

Chr15:42392720

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA7511222

rs_766334893

7 SubmittersRCV000591954 RCV000627356 RCV003459462 RCV005000366

NM_201384.3(PLEC):c.9288A>G (p.Leu3096=)

SNV
Germline

Chr8:143920533

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925015

rs_782397500

3 SubmittersRCV000597488 RCV003767354

NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser)

SNV
Germline

Chr2:178552209

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1987758

rs_373722546

6 SubmittersRCV000642932 RCV000726510 RCV002367999 RCV004526712

NM_001077365.2(POMT1):c.1671T>C (p.Ile557=)

SNV
Germline

Chr9:131520166

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA5293770

rs_200969468

2 SubmittersRCV000595211 RCV001086068

NM_000023.4(SGCA):c.329G>A (p.Arg110Gln)

SNV
Germline

Chr17:50167963

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8643771

rs_145697858

6 SubmittersRCV000597853 RCV000872896 RCV001090957

NM_201384.3(PLEC):c.8283C>T (p.Pro2761=)

SNV
Germline

Chr8:143921538

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925372

rs_533602337

2 SubmittersRCV000593442 RCV003767355

NM_201384.3(PLEC):c.13401C>T (p.Ala4467=)

SNV
Germline

Chr8:143916420

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4923817

rs_782114678

4 SubmittersRCV000597257 RCV000726513 RCV001080407 RCV004530652

NM_001267550.2(TTN):c.69660A>G (p.Ala23220=)

SNV
Germline

Chr2:178576584

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990907

rs_371996901

4 SubmittersRCV000597824 RCV000726520 RCV001087903 RCV002331008

NM_001267550.2(TTN):c.1815T>C (p.Thr605=)

SNV
Germline

Chr2:178790101

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005953

rs_757604614

7 SubmittersRCV000592469 RCV001084909 RCV002404600

NM_001101426.4(CRPPA):c.915G>A (p.Val305=)

SNV
Germline

Chr7:16278147

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Conflicting Classifications

CA454040104

rs_1466053365

2 SubmittersRCV000591370 RCV001087976

NM_001077365.2(POMT1):c.1749C>T (p.Leu583=)

SNV
Germline

Chr9:131521396

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA5293811

rs_755379319

2 SubmittersRCV000596333 RCV002062003

NM_001130987.2(DYSF):c.2510G>A (p.Arg837Gln)

SNV
Germline

Chr2:71564158

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706192

rs_748636047

5 SubmittersRCV000596941 RCV000817716 RCV001829634

NM_001267550.2(TTN):c.29658T>G (p.Leu9886=)

SNV
Germline

Chr2:178704913

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1999333

rs_372392376

3 SubmittersRCV000595938 RCV001080414

NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu)

SNV
Germline

Chr2:178573458

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1990474

rs_55992239

8 SubmittersRCV000618453 RCV000714087 RCV000643696

NM_000232.5(SGCB):c.708C>T (p.Gly236=)

SNV
Germline

Chr4:52028013

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA2918314

rs_770295146

2 SubmittersRCV000596925 RCV001854003

NM_001267550.2(TTN):c.55788G>A (p.Val18596=)

SNV
Germline

Chr2:178601116

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993384

rs_769822399

2 SubmittersRCV000596114 RCV001491402

NM_201384.3(PLEC):c.12837C>T (p.Pro4279=)

SNV
Germline

Chr8:143916984

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4923969

rs_759030267

4 SubmittersRCV000591982 RCV001089413

NM_000070.3(CAPN3):c.1437C>T (p.Ser479=)

SNV
Germline

Chr15:42401723

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7511358

rs_147914333

7 SubmittersRCV000596913 RCV001085399 RCV004024708

NM_201384.3(PLEC):c.7206C>T (p.Asp2402=)

SNV
Germline

Chr8:143922723

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925729

rs_374041678

2 SubmittersRCV000593083 RCV001084712

NM_201384.3(PLEC):c.10395G>A (p.Leu3465=)

SNV
Germline

Chr8:143919426

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA463529721

rs_1554678220

2 SubmittersRCV000595672 RCV006556309

NM_213599.3(ANO5):c.173G>A (p.Arg58Gln)

SNV
Germline

Chr11:22218280

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5922823

rs_749698519

7 SubmittersRCV000595603 RCV000813205 RCV001108715 RCV001729646

NM_201384.3(PLEC):c.3253C>T (p.Leu1085=)

SNV
Germline

Chr8:143929110

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4927164

rs_781989280

2 SubmittersRCV000593197 RCV002532370

NM_201384.3(PLEC):c.6657C>T (p.Ala2219=)

SNV
Germline

Chr8:143923272

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925914

rs_762600030

4 SubmittersRCV000596791 RCV001447865

NM_213599.3(ANO5):c.1691A>T (p.Gln564Leu)

SNV
Germline

Chr11:22262189

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA379922607

rs_1410381664

3 SubmittersRCV000596326 RCV006556310

NM_000232.5(SGCB):c.789C>T (p.Val263=)

SNV
Germline

Chr4:52024125

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA2918276

rs_371225165

2 SubmittersRCV000595135 RCV001403659

NM_000070.3(CAPN3):c.1187A>G (p.Glu396Gly)

SNV
Germline

Chr15:42396871

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA7511268

rs_752046508

3 SubmittersRCV000593761 RCV003517231 RCV005601039

NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp)

SNV
Germline

Chr7:16376140

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Conflicting Classifications

CA154760500

rs_1008210645

3 SubmittersRCV000596664 RCV000699662 RCV003139889

NM_017739.4(POMGNT1):c.1786-6C>T

SNV
Germline

Chr1:46189573

Conflicting classifications of pathogenicity

Condition: not provided
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
not specified

Criteria Provided
Conflicting Classifications

CA833227

rs_202028128

4 SubmittersRCV000596002 RCV001275229 RCV001484669 RCV001662641

NM_201384.3(PLEC):c.8046C>T (p.Leu2682=)

SNV
Germline

Chr8:143921775

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925441

rs_375590561

5 SubmittersRCV000597290 RCV001080389 RCV004530661

NM_000232.5(SGCB):c.129A>T (p.Gly43=)

SNV
Germline

Chr4:52033545

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA439274780

rs_1281862962

2 SubmittersRCV000597882 RCV002532380

NM_201384.3(PLEC):c.1418+10G>C

SNV
Germline

Chr8:143933187

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA658797171

rs_782571969

6 SubmittersRCV000596940 RCV001084858 RCV004543323

NM_001267550.2(TTN):c.48483T>C (p.Asn16161=)

SNV
Germline

Chr2:178615462

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430105645

rs_1301618072

3 SubmittersRCV000598063 RCV005502841 RCV005213329

NM_000023.4(SGCA):c.662G>C (p.Arg221Pro)

SNV
Germline

Chr17:50169169

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA400180670

rs_138254713

4 SubmittersRCV000596074 RCV003139891 RCV005000367

NM_013382.7(POMT2):c.229G>A (p.Asp77Asn)

SNV
Germline

Chr14:77320453

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7286258

rs_200992827

8 SubmittersRCV000648181 RCV000712837 RCV002476283 RCV004024714

NM_000023.4(SGCA):c.585-1G>A

SNV
Germline

Chr17:50169091

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA400180251

rs_1342189589

5 SubmittersRCV000594653 RCV001783095 RCV005000368

NM_213599.3(ANO5):c.6C>T (p.Gly2=)

SNV
Germline

Chr11:22193498

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5922734

rs_781074405

2 SubmittersRCV000594696 RCV001854012

NM_001267550.2(TTN):c.86355T>C (p.Asn28785=)

SNV
Germline

Chr2:178559777

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988514

rs_745857020

4 SubmittersRCV000726731 RCV001087455 RCV002358655

NM_001267550.2(TTN):c.68328A>G (p.Thr22776=)

SNV
Germline

Chr2:178578612

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430104778

rs_1553619783

4 SubmittersRCV000598357 RCV001860163 RCV005502842

NM_201384.3(PLEC):c.9267C>T (p.Pro3089=)

SNV
Germline

Chr8:143920554

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925018

rs_371751108

2 SubmittersRCV000597304 RCV001089161

NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter)

SNV
Germline

Chr15:42396802

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA391999114

rs_1555421523

4 SubmittersRCV000593102 RCV000757882 RCV005010569

NM_000023.4(SGCA):c.189C>T (p.His63=)

SNV
Germline

Chr17:50167613

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643730

rs_373770886

4 SubmittersRCV000595699 RCV000726733 RCV001087381

NM_001130987.2(DYSF):c.3304C>T (p.Arg1102Cys)

SNV
Germline

Chr2:71574273

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706513

rs_764208388

5 SubmittersRCV000593694 RCV001034781 RCV001276440

NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile)

SNV
Germline

Chr2:178723286

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000959

rs_367854582

5 SubmittersRCV000596300 RCV000726734 RCV000643403

NM_201384.3(PLEC):c.13044C>T (p.Arg4348=)

SNV
Germline

Chr8:143916777

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA463525768

rs_1413390454

2 SubmittersRCV000591714 RCV002532390

NM_201384.3(PLEC):c.627G>A (p.Lys209=)

SNV
Germline

Chr8:143935289

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA463536822

rs_1554722232

2 SubmittersRCV000598151 RCV001444100

NM_001267550.2(TTN):c.72114G>A (p.Thr24038=)

SNV
Germline

Chr2:178574018

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1990542

rs_768064912

3 SubmittersRCV000726738 RCV001445279

NM_201384.3(PLEC):c.2004G>A (p.Lys668=)

SNV
Germline

Chr8:143932208

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA463536212

rs_1407649319

2 SubmittersRCV000597461 RCV001440781

NM_001267550.2(TTN):c.45327C>T (p.Thr15109=)

SNV
Germline

Chr2:178621497

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995458

rs_376143828

3 SubmittersRCV000591488 RCV002065147 RCV005502843

NM_001267550.2(TTN):c.87183C>T (p.Asn29061=)

SNV
Germline

Chr2:178558171

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1988351

rs_372776235

2 SubmittersRCV000592997 RCV002531011

NM_201384.3(PLEC):c.4293G>A (p.Ala1431=)

SNV
Germline

Chr8:143925636

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926712

rs_782198489

3 SubmittersRCV000591531 RCV002062014 RCV004530669

NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val)

SNV
Germline

Chr7:157367408

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Multiple Submitters
No Conflicts

CA370166103

rs_869320701

5 SubmittersRCV000591783 RCV000845572

NM_201384.3(PLEC):c.4326G>A (p.Ala1442=)

SNV
Germline

Chr8:143925603

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
not specified

Criteria Provided
Conflicting Classifications

CA4926703

rs_369943756

5 SubmittersRCV000594416 RCV001078634 RCV001288291

NM_004393.6(DAG1):c.2349T>C (p.Leu783=)

SNV
Germline

Chr3:49532860

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P
DAG1-related disorder

Criteria Provided
Conflicting Classifications

CA2399250

rs_201280782

3 SubmittersRCV000594656 RCV002062017 RCV003915698

NM_001267550.2(TTN):c.93129C>T (p.Asp31043=)

SNV
Germline

Chr2:178548497

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987353

rs_758336721

5 SubmittersRCV000592432 RCV001079341 RCV002377228

NM_001267550.2(TTN):c.103302T>C (p.Tyr34434=)

SNV
Germline

Chr2:178533313

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985627

rs_773408387

5 SubmittersRCV000598529 RCV000726762 RCV001454590 RCV002395520

NM_201384.3(PLEC):c.11037G>A (p.Ala3679=)

SNV
Germline

Chr8:143918784

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924451

rs_555044240

2 SubmittersRCV000597611 RCV001473649

NM_000231.3(SGCG):c.303A>C (p.Ser101=)

SNV
Germline

Chr13:23250635

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA6909636

rs_144277094

2 SubmittersRCV000594241 RCV001430021

NM_000070.3(CAPN3):c.1127G>A (p.Trp376Ter)

SNV
Germline

Chr15:42396811

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA391999140

rs_1555421524

2 SubmittersRCV000592765 RCV001388137

NM_001267550.2(TTN):c.64683C>G (p.Gly21561=)

SNV
Germline

Chr2:178584958

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991858

rs_542156552

4 SubmittersRCV000591151 RCV000726792 RCV001468362 RCV004024728

NM_001267550.2(TTN):c.41778T>C (p.Asp13926=)

SNV
Germline

Chr2:178635546

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996210

rs_766397292

3 SubmittersRCV000591108 RCV001454734 RCV002395522

NM_001267550.2(TTN):c.13479T>G (p.Pro4493=)

SNV
Germline

Chr2:178739754

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002576

rs_368698752

4 SubmittersRCV000592689 RCV001087938 RCV002377229

NM_201384.3(PLEC):c.5923C>T (p.Leu1975=)

SNV
Germline

Chr8:143924006

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA463534172

rs_782656731

2 SubmittersRCV000592878 RCV002531019

NM_001267550.2(TTN):c.100980G>A (p.Glu33660=)

SNV
Germline

Chr2:178535635

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60960301

rs_727503536

3 SubmittersRCV000597986 RCV001485438 RCV002384294

NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter)

SNV
Germline

Chr15:42387757

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA391997748

rs_1555420462

6 SubmittersRCV000593032 RCV000726798 RCV003459465 RCV005010570

NM_001267550.2(TTN):c.6508+1G>T

SNV
Germline

Chr2:178775355

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349682676

rs_1373416532

3 SubmittersRCV000591560 RCV000696133 RCV002368004

NM_000070.3(CAPN3):c.2292C>T (p.Asp764=)

SNV
Germline

Chr15:42410912

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511822

rs_187279903

3 SubmittersRCV000594942 RCV001080050

NM_213599.3(ANO5):c.149G>A (p.Arg50Gln)

SNV
Germline

Chr11:22218256

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA5922818

rs_370084681

4 SubmittersRCV000593489 RCV000792739

NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)

SNV
Germline

Chr15:42402878

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
CAPN3-related disorder

Reviewed By Expert Panel

CA7511448

rs_142004418

16 SubmittersRCV000595213 RCV000726807 RCV000762951 RCV002298702 RCV003222054 RCV004732952

NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)

SNV
Germline

Chr19:46756273

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Multiple Submitters
No Conflicts

CA406496081

rs_1247934219

6 SubmittersRCV000596371 RCV000674695 RCV000810990 RCV003459466

NM_001267550.2(TTN):c.4284T>A (p.Ser1428=)

SNV
Germline

Chr2:178777900

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005346

rs_771454835

4 SubmittersRCV000591386 RCV001450128 RCV002331011

NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)

SNV
Germline

Chr17:50168490

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
not specified

Criteria Provided
Conflicting Classifications

CA8643815

rs_199810179

7 SubmittersRCV000592735 RCV001256191 RCV004701682

NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter)

SNV
Germline

Chr2:178567153

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349600340

rs_1419374180

7 SubmittersRCV000592175 RCV001379743 RCV003302911 RCV004017690 RCV004813123

NM_004393.6(DAG1):c.286-5T>C

SNV
Germline

Chr3:49530792

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P

Criteria Provided
Conflicting Classifications

CA2398879

rs_894752417

2 SubmittersRCV000597387 RCV003767362

NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp)

SNV
Germline

Chr2:71551712

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1705929

rs_149386446

7 SubmittersRCV000598052 RCV000648023 RCV001274446 RCV001526744

NM_001077365.2(POMT1):c.1698+10C>A

SNV
Germline

Chr9:131520203

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293784

rs_184131819

5 SubmittersRCV000595892 RCV000712816 RCV001087695 RCV004735643

NM_001130987.2(DYSF):c.2948G>A (p.Trp983Ter)

SNV
Germline

Chr2:71569903

Pathogenic

Condition: not provided
DYSF-related disorder
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347216158

rs_1268594965

3 SubmittersRCV000595821 RCV004730987 RCV006252457

NM_012470.4(TNPO3):c.747A>G (p.Val249=)

SNV
Germline

Chr7:129001184

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA457591522

rs_1326573780

2 SubmittersRCV000596873 RCV002065152

NM_001267550.2(TTN):c.4206C>T (p.Ile1402=)

SNV
Germline

Chr2:178778876

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430107882

rs_1554011604

2 SubmittersRCV000597040 RCV001488139

NM_001130987.2(DYSF):c.5216A>T (p.Gln1739Leu)

SNV
Germline

Chr2:71665203

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707293

rs_149408006

5 SubmittersRCV000595675 RCV001243854 RCV001829645

NM_201384.3(PLEC):c.2613-4C>T

SNV
Germline

Chr8:143930066

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4927436

rs_370001506

2 SubmittersRCV000596962 RCV001398794

NM_001267550.2(TTN):c.55986C>T (p.Val18662=)

SNV
Germline

Chr2:178600918

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60977418

rs_747136342

3 SubmittersRCV000593469 RCV001504997 RCV002438534

NM_213599.3(ANO5):c.2646C>T (p.Asn882=)

SNV
Germline

Chr11:22279669

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA218779588

rs_34969327

2 SubmittersRCV000593846 RCV002532415

NM_000337.6(SGCD):c.516A>G (p.Thr172=)

SNV
Germline

Chr5:156647477

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3530622

rs_753952200

5 SubmittersRCV000595314 RCV002062022 RCV002341519

NM_001267550.2(TTN):c.54578A>G (p.Asn18193Ser)

SNV
Germline

Chr2:178604109

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993613

rs_777505893

6 SubmittersRCV000596246 RCV000642758 RCV002438535 RCV003150292

NM_001267550.2(TTN):c.795C>T (p.Ser265=)

SNV
Germline

Chr2:178799606

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2006224

rs_780802517

3 SubmittersRCV000597096 RCV002420570 RCV003767364

NM_001267550.2(TTN):c.47598A>G (p.Leu15866=)

SNV
Germline

Chr2:178617487

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60990170

rs_879099244

4 SubmittersRCV000726885 RCV001505310 RCV002420571

NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp)

SNV
Germline

Chr2:178543972

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1986809

rs_201463708

7 SubmittersRCV000596001 RCV000643669 RCV005404710

NM_004393.6(DAG1):c.2652C>A (p.Thr884=)

SNV
Germline

Chr3:49533163

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
DAG1-related disorder

Criteria Provided
Conflicting Classifications

CA2399305

rs_762428862

3 SubmittersRCV000595656 RCV002065160 RCV003892139

NM_001267550.2(TTN):c.85722C>T (p.Pro28574=)

SNV
Germline

Chr2:178560410

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1988598

rs_763685410

3 SubmittersRCV000591478 RCV001481979 RCV004735646

NM_001267550.2(TTN):c.85173G>A (p.Trp28391Ter)

SNV
Germline

Chr2:178560959

Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349555326

rs_1553563519

3 SubmittersRCV000595054 RCV004024755 RCV006556315

NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)

SNV
Germline

Chr2:71570685

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347217064

rs_1553556116

8 SubmittersRCV000591140 RCV001376861 RCV002271535 RCV003465340 RCV003338676

NM_201384.3(PLEC):c.8673C>G (p.Gly2891=)

SNV
Germline

Chr8:143921148

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA463531164

rs_782370134

2 SubmittersRCV000595678 RCV001435427

NM_201384.3(PLEC):c.7405C>T (p.Leu2469=)

SNV
Germline

Chr8:143922524

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925663

rs_782350068

2 SubmittersRCV000593562 RCV001479142

NM_001130987.2(DYSF):c.2700T>C (p.Tyr900=)

SNV
Germline

Chr2:71568174

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706267

rs_149979662

3 SubmittersRCV000593326 RCV001085310 RCV001834883

NM_001267550.2(TTN):c.40800C>A (p.Ile13600=)

SNV
Germline

Chr2:178639775

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA61009077

rs_879111430

3 SubmittersRCV000597549 RCV001417395 RCV002384297

NM_001267550.2(TTN):c.91119A>G (p.Lys30373=)

SNV
Germline

Chr2:178551781

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987689

rs_192167542

5 SubmittersRCV000595176 RCV000690292 RCV000765545 RCV002358656

NM_017739.4(POMGNT1):c.880-4A>C

SNV
Germline

Chr1:46193929

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA658795456

rs_1553163534

2 SubmittersRCV000591029 RCV001867944

NM_000231.3(SGCG):c.575T>G (p.Leu192Arg)

SNV
Germline

Chr13:23295484

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA387504403

rs_1555245351

3 SubmittersRCV000592624 RCV001347465

NM_213599.3(ANO5):c.1516A>G (p.Ser506Gly)

SNV
Germline

Chr11:22259627

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Intellectual disability
ANO5-Related Muscle Diseases

Criteria Provided
Conflicting Classifications

CA5923275

rs_141799673

7 SubmittersRCV000592037 RCV000699271 RCV001251668 RCV001106644

NM_001267550.2(TTN):c.103246T>C (p.Leu34416=)

SNV
Germline

Chr2:178533369

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430236949

rs_1553492053

4 SubmittersRCV000595885 RCV001447328

NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=)

SNV
Germline

Chr2:71613335

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706997

rs_61746816

4 SubmittersRCV000594283 RCV001082513 RCV001829647

NM_001267550.2(TTN):c.39895+1G>A

SNV
Germline

Chr2:178649816

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1996565

rs_749931280

2 SubmittersRCV000592493 RCV003767367

NM_012470.4(TNPO3):c.30C>T (p.Leu10=)

SNV
Germline

Chr7:129054741

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4478477

rs_138263703

3 SubmittersRCV000726941 RCV002062035

NM_001267550.2(TTN):c.86538A>T (p.Pro28846=)

SNV
Germline

Chr2:178559594

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988485

rs_747423090

4 SubmittersRCV000594772 RCV001087858 RCV002358657

NM_000232.5(SGCB):c.430-10T>C

SNV
Germline

Chr4:52028931

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA658796429

rs_1553940172

2 SubmittersRCV000595753 RCV001452701

NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)

SNV
Germline

Chr15:42409973

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
not specified
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA7511710

rs_190793093

10 SubmittersRCV000597401 RCV000644983 RCV002476300 RCV003387895 RCV003459469

NM_001267550.2(TTN):c.14871C>A (p.Thr4957=)

SNV
Germline

Chr2:178735575

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60981741

rs_779268926

3 SubmittersRCV000597239 RCV000769084 RCV002062036

NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His)

SNV
Germline

Chr2:71570689

Conflicting classifications of pathogenicity

Condition: not provided
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706455

rs_754763074

5 SubmittersRCV000592866 RCV001563740 RCV001563742 RCV001563741 RCV001854033

NM_001267550.2(TTN):c.39895+7A>G

SNV
Germline

Chr2:178649810

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA538436598

rs_1299824475

3 SubmittersRCV000595003 RCV001490434 RCV003235304

NM_001267550.2(TTN):c.70743C>T (p.His23581=)

SNV
Germline

Chr2:178575389

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1990733

rs_375194057

5 SubmittersRCV000596443 RCV001436245 RCV002331014 RCV004735649

NM_201384.3(PLEC):c.1305G>A (p.Ala435=)

SNV
Germline

Chr8:143933310

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928020

rs_369877618

5 SubmittersRCV000594156 RCV001083796 RCV004530683

NM_001267550.2(TTN):c.12957G>A (p.Ala4319=)

SNV
Germline

Chr2:178740276

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2002645

rs_762330685

5 SubmittersRCV000591436 RCV001088777 RCV003160020 RCV004543347

NM_001130987.2(DYSF):c.1041C>A (p.Ala347=)

SNV
Germline

Chr2:71520796

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA426699980

rs_1553525671

3 SubmittersRCV000594500 RCV001503763 RCV005614426

NM_001267550.2(TTN):c.574C>T (p.Leu192=)

SNV
Germline

Chr2:178800404

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006301

rs_767983460

3 SubmittersRCV000597367 RCV001083092 RCV002350425

NM_000231.3(SGCG):c.414A>G (p.Gln138=)

SNV
Germline

Chr13:23279387

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA6909686

rs_770596449

4 SubmittersRCV000594815 RCV000726955 RCV001272176

NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)

SNV
Germline

Chr2:71570231

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1706362

rs_142404822

7 SubmittersRCV000726965 RCV001081802 RCV001834885 RCV001449654 RCV003927915

NM_000231.3(SGCG):c.196-6T>A

SNV
Germline

Chr13:23234605

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA608622812

rs_1165407566

2 SubmittersRCV000593076 RCV002062043

NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)

SNV
Germline

Chr4:52029836

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E
Inborn genetic diseases
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA2918445

rs_555514820

11 SubmittersRCV000596054 RCV000813259 RCV001267014 RCV001779022

NM_001077365.2(POMT1):c.1746C>T (p.Ser582=)

SNV
Germline

Chr9:131521393

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293810

rs_376373313

3 SubmittersRCV000594345 RCV001459502 RCV004543349

NM_201384.3(PLEC):c.1122C>T (p.His374=)

SNV
Germline

Chr8:143934365

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4928165

rs_372270485

3 SubmittersRCV000594950 RCV000726969 RCV001392596

NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter)

SNV
Germline

Chr15:42410638

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA269853677

rs_147774793

4 SubmittersRCV000593493 RCV001247085 RCV003459470 RCV005010573

NM_000070.3(CAPN3):c.1439T>A (p.Phe480Tyr)

SNV
Germline

Chr15:42401725

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
not specified

Criteria Provided
Conflicting Classifications

CA391999851

rs_1555422111

3 SubmittersRCV000595569 RCV001247084 RCV005418230

NM_001130987.2(DYSF):c.746C>T (p.Pro249Leu)

SNV
Germline

Chr2:71513908

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705435

rs_147876220

4 SubmittersRCV000593233 RCV001240944 RCV001834886

NM_201384.3(PLEC):c.5942G>A (p.Arg1981Gln)

SNV
Germline

Chr8:143923987

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926177

rs_782635621

4 SubmittersRCV000593349 RCV001860181 RCV004024759

NM_001267550.2(TTN):c.64734C>T (p.Ser21578=)

SNV
Germline

Chr2:178584907

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991847

rs_773855604

5 SubmittersRCV000592451 RCV001079605 RCV002368011

NM_001267550.2(TTN):c.91998C>G (p.Ala30666=)

SNV
Germline

Chr2:178549724

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430244670

rs_1160773007

3 SubmittersRCV000597857 RCV005213332

NM_001267550.2(TTN):c.69639T>C (p.Arg23213=)

SNV
Germline

Chr2:178576605

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430258584

rs_1487392148

4 SubmittersRCV000593391 RCV000726988 RCV002532456 RCV004992374

NM_000337.6(SGCD):c.54G>A (p.Val18=)

SNV
Germline

Chr5:156344539

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3530474

rs_756970013

3 SubmittersRCV000594349 RCV001867951 RCV005278607

NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp)

SNV
Germline

Chr2:178553140

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1987872

rs_747181293

6 SubmittersRCV000643405 RCV000714112 RCV005863218

NM_001267550.2(TTN):c.39895+1G>C

SNV
Germline

Chr2:178649816

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349447873

rs_749931280

3 SubmittersRCV000596509 RCV000687882

NM_001267550.2(TTN):c.90594T>C (p.His30198=)

SNV
Germline

Chr2:178552306

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987771

rs_765307374

4 SubmittersRCV000593298 RCV001081029 RCV002368013

NM_004393.6(DAG1):c.537A>G (p.Ser179=)

SNV
Germline

Chr3:49531048

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA433838927

rs_1553652562

2 SubmittersRCV000591757 RCV005213333

NM_201384.3(PLEC):c.6267G>A (p.Ala2089=)

SNV
Germline

Chr8:143923662

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926059

rs_782033629

2 SubmittersRCV000593397 RCV001455984

NM_017739.4(POMGNT1):c.1464A>G (p.Arg488=)

SNV
Germline

Chr1:46192173

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA417886159

rs_1157887321

2 SubmittersRCV000592225 RCV001480439

NM_001267550.2(TTN):c.16530T>C (p.Tyr5510=)

SNV
Germline

Chr2:178732531

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA60979693

rs_970449071

3 SubmittersRCV000597697 RCV001465696 RCV005404711

NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser)

SNV
Germline

Chr9:105635215

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5170614

rs_374912618

8 SubmittersRCV000594573 RCV000634068 RCV000766042 RCV002384299

NM_001267550.2(TTN):c.32471-6C>T

SNV
Germline

Chr2:178684995

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998628

rs_763361422

4 SubmittersRCV000596044 RCV001079251 RCV004788007

NM_201384.3(PLEC):c.5632C>T (p.Arg1878Trp)

SNV
Germline

Chr8:143924297

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926290

rs_782312793

6 SubmittersRCV000597533 RCV000795645

NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys)

SNV
Germline

Chr2:178731069

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2001786

rs_753136638

5 SubmittersRCV000597458 RCV000643100

NM_201384.3(PLEC):c.741C>T (p.Asp247=)

SNV
Germline

Chr8:143935095

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4928327

rs_781847274

2 SubmittersRCV000593784 RCV001412608

NM_201384.3(PLEC):c.5610G>A (p.Ala1870=)

SNV
Germline

Chr8:143924319

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926302

rs_782258533

2 SubmittersRCV000592606 RCV001067653

NM_001077365.2(POMT1):c.2031C>T (p.Ser677=)

SNV
Germline

Chr9:131522959

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA5293922

rs_778418119

3 SubmittersRCV000598512 RCV001088943

NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter)

SNV
Germline

Chr2:178532910

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349413691

rs_1553490574

7 SubmittersRCV000592204 RCV001217365 RCV002260514 RCV002395527 RCV005418231

NM_017739.4(POMGNT1):c.1683T>C (p.Pro561=)

SNV
Germline

Chr1:46189956

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA417717888

rs_1246120938

2 SubmittersRCV000595995 RCV001499773

NM_001267550.2(TTN):c.24951C>T (p.Asn8317=)

SNV
Germline

Chr2:178718055

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430286033

rs_370154022

2 SubmittersRCV000596021 RCV001445759

NM_201384.3(PLEC):c.1335G>A (p.Ala445=)

SNV
Germline

Chr8:143933280

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4928012

rs_530403338

2 SubmittersRCV000597756 RCV002062056

NM_001267550.2(TTN):c.95598C>T (p.Thr31866=)

SNV
Germline

Chr2:178545512

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430101523

rs_1553520323

4 SubmittersRCV000596808 RCV002282257 RCV006556322 RCV006342385

NM_201384.3(PLEC):c.9204C>T (p.Ile3068=)

SNV
Germline

Chr8:143920617

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA187611153

rs_1022654495

2 SubmittersRCV000598070 RCV001452519

NM_017739.4(POMGNT1):c.6C>T (p.Asp2=)

SNV
Germline

Chr1:46197816

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA417720818

rs_375238770

2 SubmittersRCV000595917 RCV001485687

NM_001267550.2(TTN):c.96904+8C>A

SNV
Germline

Chr2:178543061

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA538435099

rs_528358945

2 SubmittersRCV000594105 RCV001506422

NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu)

SNV
Germline

Chr2:71515657

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi myopathy
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
DYSF-related disorder

Criteria Provided
Conflicting Classifications

CA1705463

rs_143053635

7 SubmittersRCV000598072 RCV000792953 RCV001535517 RCV003403397

NM_001267550.2(TTN):c.25173G>A (p.Val8391=)

SNV
Germline

Chr2:178717701

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60970216

rs_912662531

2 SubmittersRCV000595328 RCV002062060

NM_001130987.2(DYSF):c.4294C>T (p.Arg1432Trp)

SNV
Germline

Chr2:71612713

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706959

rs_774011358

3 SubmittersRCV000596365 RCV001370590 RCV001829658

NM_001267550.2(TTN):c.81711A>G (p.Glu27237=)

SNV
Germline

Chr2:178564421

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430251227

rs_1553576452

2 SubmittersRCV000597961 RCV002062061

NM_004393.6(DAG1):c.219C>T (p.Val73=)

SNV
Germline

Chr3:49510753

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P
not specified

Criteria Provided
Conflicting Classifications

CA2398846

rs_145165301

4 SubmittersRCV000597188 RCV001500510 RCV001662643

NM_000070.3(CAPN3):c.2051-3C>A

SNV
Germline

Chr15:42409928

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA269852680

rs_201294691

2 SubmittersRCV000591823 RCV001521187

NM_201384.3(PLEC):c.10314C>T (p.Asp3438=)

SNV
Germline

Chr8:143919507

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924688

rs_62642462

2 SubmittersRCV000597044 RCV001484177

NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys)

SNV
Germline

Chr2:71667420

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707345

rs_545645581

5 SubmittersRCV000665182 RCV000711567 RCV002531059

NM_000070.3(CAPN3):c.1869G>A (p.Glu623=)

SNV
Germline

Chr15:42408279

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA489885486

rs_1391429681

2 SubmittersRCV000598317 RCV001464467

NM_001267550.2(TTN):c.2733C>T (p.Val911=)

SNV
Germline

Chr2:178784112

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430111757

rs_1554019951

2 SubmittersRCV000591712 RCV002062062

NM_001267550.2(TTN):c.77037T>C (p.Asn25679=)

SNV
Germline

Chr2:178569095

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989830

rs_372800320

3 SubmittersRCV000598088 RCV002062064 RCV004024781

NM_001267550.2(TTN):c.96921T>C (p.Asp32307=)

SNV
Germline

Chr2:178542933

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1986664

rs_771385738

6 SubmittersRCV000591398 RCV001088167 RCV001805201 RCV002368015 RCV004530698

NM_001267550.2(TTN):c.18028+2T>C

SNV
Germline

Chr2:178730503

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349567570

rs_1553922787

2 SubmittersRCV000594817 RCV003767373

NM_201384.3(PLEC):c.4494C>G (p.Arg1498=)

SNV
Germline

Chr8:143925435

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA463535330

rs_1458728542

2 SubmittersRCV000593634 RCV002532510

NM_001130987.2(DYSF):c.5643-7T>G

SNV
Germline

Chr2:71669598

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA658795802

rs_1553416025

2 SubmittersRCV000594012 RCV005252982

NM_001267550.2(TTN):c.34161A>G (p.Glu11387=)

SNV
Germline

Chr2:178677751

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998127

rs_780975680

2 SubmittersRCV000598235 RCV002531062

NM_058246.4(DNAJB6):c.149C>T (p.Ala50Val)

SNV
Germline

Chr7:157363244

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA4590362

rs_575604496

3 SubmittersRCV000596914 RCV001204396

NM_001267550.2(TTN):c.32887+1G>T

SNV
Germline

Chr2:178683210

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA1998505

rs_546105899

6 SubmittersRCV000597154 RCV001303055 RCV002506422 RCV006257305

NM_001267550.2(TTN):c.51099C>T (p.Leu17033=)

SNV
Germline

Chr2:178611030

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1994251

rs_755994820

5 SubmittersRCV000592436 RCV001453780 RCV002431752 RCV004735651

NM_201384.3(PLEC):c.9528C>T (p.Ala3176=)

SNV
Germline

Chr8:143920293

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924944

rs_368317567

4 SubmittersRCV000597782 RCV000727156 RCV001480434

NM_001267550.2(TTN):c.32199A>G (p.Val10733=)

SNV
Germline

Chr2:178688223

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998687

rs_769008912

2 SubmittersRCV000596295 RCV003767378

NM_201384.3(PLEC):c.8146C>T (p.Leu2716=)

SNV
Germline

Chr8:143921675

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA187612335

rs_900058084

2 SubmittersRCV000591379 RCV005223030

NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=)

SNV
Germline

Chr15:42401807

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA7511381

rs_370231427

7 SubmittersRCV000591189 RCV001085351 RCV004543365

NM_001267550.2(TTN):c.34092A>T (p.Leu11364=)

SNV
Germline

Chr2:178677820

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998140

rs_765888527

4 SubmittersRCV000591114 RCV001453686

NM_001267550.2(TTN):c.7902C>T (p.Ser2634=)

SNV
Germline

Chr2:178771425

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430125876

rs_1553997365

3 SubmittersRCV000592928 RCV000643027 RCV004024790

NM_001267550.2(TTN):c.25035C>T (p.Val8345=)

SNV
Germline

Chr2:178717971

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2000304

rs_781552736

2 SubmittersRCV000595423 RCV001477295

NM_000232.5(SGCB):c.430-4G>T

SNV
Germline

Chr4:52028925

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA96782284

rs_989155710

2 SubmittersRCV000595498 RCV002065167

NM_001267550.2(TTN):c.90171T>C (p.Asp30057=)

SNV
Germline

Chr2:178552729

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1987824

rs_774509104

2 SubmittersRCV000598155 RCV002531067

NM_213599.3(ANO5):c.1207C>T (p.Gln403Ter)

SNV
Germline

Chr11:22255397

Pathogenic/Likely pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA379921410

rs_1554930267

3 SubmittersRCV000591842 RCV001854062

NM_017739.4(POMGNT1):c.426C>T (p.His142=)

SNV
Germline

Chr1:46195919

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833727

rs_374384310

2 SubmittersRCV000594088 RCV001455553

NM_001267550.2(TTN):c.6423G>A (p.Val2141=)

SNV
Germline

Chr2:178775441

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005051

rs_768989325

4 SubmittersRCV000592509 RCV001444322 RCV002368021

NM_001267550.2(TTN):c.4641G>T (p.Val1547=)

SNV
Germline

Chr2:178777424

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60978325

rs_1012929202

4 SubmittersRCV000598051 RCV000727209 RCV002331017 RCV003767384

NM_001267550.2(TTN):c.77166T>C (p.Pro25722=)

SNV
Germline

Chr2:178568966

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60993257

rs_757252494

5 SubmittersRCV000593181 RCV000727210 RCV001397000 RCV002341526

NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter)

SNV
Germline

Chr14:77302852

Pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Multiple Submitters
No Conflicts

CA7286143

rs_764878423

2 SubmittersRCV000597859 RCV003767385

NM_201384.3(PLEC):c.9531C>T (p.Asp3177=)

SNV
Germline

Chr8:143920290

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4924941

rs_782764977

2 SubmittersRCV000592981 RCV003767386

NM_001267550.2(TTN):c.69903C>T (p.Phe23301=)

SNV
Germline

Chr2:178576229

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990859

rs_372799151

4 SubmittersRCV000591872 RCV001506188 RCV002331018

NM_001130987.2(DYSF):c.1364G>C (p.Ser455Thr)

SNV
Germline

Chr2:71528385

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705707

rs_371593605

4 SubmittersRCV000592160 RCV000807941 RCV001276724 RCV005328327

NM_001267550.2(TTN):c.41329+2T>G

SNV
Germline

Chr2:178636396

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349660604

rs_1553747489

3 SubmittersRCV000592248 RCV002395529 RCV003767387

NM_001267550.2(TTN):c.76482C>T (p.Asp25494=)

SNV
Germline

Chr2:178569650

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989906

rs_370908118

6 SubmittersRCV000594836 RCV000727213 RCV001078978 RCV001798913 RCV002341527

NM_201384.3(PLEC):c.3831C>T (p.Asn1277=)

SNV
Germline

Chr8:143927261

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926916

rs_202217053

3 SubmittersRCV000593490 RCV002062070 RCV004543368

NM_201384.3(PLEC):c.6495G>A (p.Ala2165=)

SNV
Germline

Chr8:143923434

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925967

rs_201462310

3 SubmittersRCV000597707 RCV001430047 RCV004543369

NM_201384.3(PLEC):c.8610C>G (p.Arg2870=)

SNV
Germline

Chr8:143921211

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925250

rs_200653758

2 SubmittersRCV000593749 RCV001854066

NM_001267550.2(TTN):c.73827A>G (p.Glu24609=)

SNV
Germline

Chr2:178572305

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430255839

rs_754097967

2 SubmittersRCV000597460 RCV001505919

NM_001267550.2(TTN):c.46848G>T (p.Thr15616=)

SNV
Germline

Chr2:178618702

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995160

rs_766610061

3 SubmittersRCV000595440 RCV003767388 RCV004024794

NM_001267550.2(TTN):c.91884A>G (p.Arg30628=)

SNV
Germline

Chr2:178549838

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1987539

rs_144922355

4 SubmittersRCV000598113 RCV000727216 RCV005223031

NM_001130987.2(DYSF):c.5620A>G (p.Met1874Val)

SNV
Germline

Chr2:71669185

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347223040

rs_1553415622

3 SubmittersRCV000593308 RCV003231652 RCV005601042

NM_000070.3(CAPN3):c.2040C>T (p.Val680=)

SNV
Germline

Chr15:42409834

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511664

rs_200583904

3 SubmittersRCV000591037 RCV001079051

NM_001267550.2(TTN):c.75099C>T (p.Asp25033=)

SNV
Germline

Chr2:178571033

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1990105

rs_370272814

6 SubmittersRCV000591231 RCV001394349 RCV002341528 RCV006459642

NM_001267550.2(TTN):c.14670C>T (p.Phe4890=)

SNV
Germline

Chr2:178735776

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430294753

rs_1260191732

2 SubmittersRCV000591902 RCV001447600

NM_000231.3(SGCG):c.501A>T (p.Val167=)

SNV
Germline

Chr13:23279474

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA6909703

rs_560640452

3 SubmittersRCV000592590 RCV001086818

NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp)

SNV
Germline

Chr15:42394295

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA7511241

rs_774273767

5 SubmittersRCV000591299 RCV000673918 RCV003471959

NM_017739.4(POMGNT1):c.1738C>A (p.Arg580=)

SNV
Germline

Chr1:46189901

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA21910635

rs_386834018

3 SubmittersRCV000592161 RCV001097778 RCV001097777 RCV002532545

NM_201384.3(PLEC):c.13077C>T (p.Phe4359=)

SNV
Germline

Chr8:143916744

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4923911

rs_782380080

2 SubmittersRCV000597666 RCV001435368

NM_001267550.2(TTN):c.94590A>G (p.Pro31530=)

SNV
Germline

Chr2:178546838

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987098

rs_558347312

4 SubmittersRCV000596386 RCV000727233 RCV001088824 RCV002368024

NM_201384.3(PLEC):c.8019G>T (p.Ala2673=)

SNV
Germline

Chr8:143921802

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925451

rs_374178650

3 SubmittersRCV000594030 RCV002062074

NM_004393.6(DAG1):c.2124G>C (p.Thr708=)

SNV
Germline

Chr3:49532635

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA74522566

rs_140204495

2 SubmittersRCV000598362 RCV001394001

NM_058246.4(DNAJB6):c.621-4A>G

SNV
Germline

Chr7:157385537

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA169880697

rs_927500992

3 SubmittersRCV000594049 RCV003767390

NM_201384.3(PLEC):c.13607C>T (p.Ser4536Leu)

SNV
Germline

Chr8:143916214

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4923747

rs_781985768

4 SubmittersRCV000595493 RCV000817784 RCV004024797

NM_001267550.2(TTN):c.95805C>T (p.Tyr31935=)

SNV
Germline

Chr2:178544424

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1986875

rs_375076970

2 SubmittersRCV000591035 RCV001483282

NM_001130987.2(DYSF):c.889-2A>G

SNV
Germline

Chr2:71516178

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA49761016

rs_934428561

3 SubmittersRCV000594160 RCV001378702 RCV005027710

NM_001267550.2(TTN):c.18426C>T (p.Asp6142=)

SNV
Germline

Chr2:178729827

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430292741

rs_1435792777

2 SubmittersRCV000595306 RCV001396182

NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)

SNV
Germline

Chr2:71611540

Pathogenic

Condition: not provided
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1706900

rs_776472879

4 SubmittersRCV000591033 RCV002491213 RCV003574784 RCV004689806

NM_001267550.2(TTN):c.14212C>A (p.Arg4738=)

SNV
Germline

Chr2:178738241

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430295203

rs_1311308523

3 SubmittersRCV000597960 RCV000643764 RCV004024808

NM_001267550.2(TTN):c.82401T>C (p.Tyr27467=)

SNV
Germline

Chr2:178563731

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1989078

rs_771006818

2 SubmittersRCV000594730 RCV005223033

NM_001267550.2(TTN):c.98685T>C (p.Asn32895=)

SNV
Germline

Chr2:178539250

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1986326

rs_752093604

2 SubmittersRCV000593137 RCV001487197

NM_201384.3(PLEC):c.2439C>T (p.Cys813=)

SNV
Germline

Chr8:143930402

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4927535

rs_782233609

2 SubmittersRCV000597962 RCV001417523

NM_001267550.2(TTN):c.55784C>G (p.Thr18595Arg)

SNV
Germline

Chr2:178601120

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1993387

rs_770499179

7 SubmittersRCV000597499 RCV000643805 RCV003150293 RCV005404714

NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu)

SNV
Germline

Chr2:178625329

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA1995628

rs_751929345

7 SubmittersRCV000592154 RCV000643402 RCV002491214 RCV003150294 RCV005404715

NM_001267550.2(TTN):c.54477C>G (p.Val18159=)

SNV
Germline

Chr2:178604210

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993623

rs_374335905

4 SubmittersRCV000593379 RCV000643767 RCV000727302 RCV002431755

NM_001267550.2(TTN):c.88009+8T>C

SNV
Germline

Chr2:178557245

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1988231

rs_748691963

3 SubmittersRCV000598393 RCV005223035

NM_001267550.2(TTN):c.83580G>A (p.Val27860=)

SNV
Germline

Chr2:178562552

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988901

rs_200096597

6 SubmittersRCV000598519 RCV000727312 RCV001088493 RCV002350427

NM_001267550.2(TTN):c.44418C>T (p.Ser14806=)

SNV
Germline

Chr2:178629307

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1995651

rs_368005198

3 SubmittersRCV000593166 RCV000622141 RCV001087059

NM_001267550.2(TTN):c.73935C>A (p.Gly24645=)

SNV
Germline

Chr2:178572197

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990289

rs_375726644

4 SubmittersRCV000594387 RCV001084814 RCV002341531

NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter)

SNV
Germline

Chr2:178599748

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349534533

rs_1477101279

5 SubmittersRCV000592832 RCV000818597 RCV003326470

NM_001267550.2(TTN):c.29937C>T (p.Ile9979=)

SNV
Germline

Chr2:178704535

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60999470

rs_878892843

3 SubmittersRCV000591143 RCV001503601

NM_001077365.2(POMT1):c.1740G>A (p.Ser580=)

SNV
Germline

Chr9:131521387

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA5293809

rs_148758906

2 SubmittersRCV000594182 RCV003767395

NM_001267550.2(TTN):c.80841T>C (p.Phe26947=)

SNV
Germline

Chr2:178565291

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60988624

rs_1015506783

3 SubmittersRCV000597207 RCV001436632 RCV002350428

NM_201384.3(PLEC):c.10077C>T (p.Gly3359=)

SNV
Germline

Chr8:143919744

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4924763

rs_781808958

2 SubmittersRCV000598401 RCV006556330

NM_001267550.2(TTN):c.24621C>T (p.Asp8207=)

SNV
Germline

Chr2:178718485

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2000392

rs_751733811

4 SubmittersRCV000595784 RCV001088549 RCV004543373

NM_001267550.2(TTN):c.95838G>A (p.Leu31946=)

SNV
Germline

Chr2:178544391

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430241881

rs_1553519324

3 SubmittersRCV000597342 RCV005223036 RCV006342389

NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)

SNV
Germline

Chr15:42401667

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA391999721

rs_1274808359

11 SubmittersRCV000592929 RCV000727349 RCV003471960 RCV003235305 RCV005010581

NM_201384.3(PLEC):c.678G>A (p.Ala226=)

SNV
Germline

Chr8:143935238

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928353

rs_782369854

4 SubmittersRCV000593495 RCV000727352 RCV001363013 RCV004530709

NM_012470.4(TNPO3):c.2062-8C>G

SNV
Germline

Chr7:128975943

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA577725427

rs_1486585360

2 SubmittersRCV000597713 RCV003584669

NM_201384.3(PLEC):c.10566G>A (p.Thr3522=)

SNV
Germline

Chr8:143919255

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA4924606

rs_200741156

3 SubmittersRCV000591508 RCV001416570 RCV001662644

NM_004393.6(DAG1):c.2251C>T (p.Leu751=)

SNV
Germline

Chr3:49532762

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA433840206

rs_1553653673

2 SubmittersRCV000597405 RCV002062080

NM_201384.3(PLEC):c.6033C>T (p.Val2011=)

SNV
Germline

Chr8:143923896

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926135

rs_782488330

2 SubmittersRCV000596539 RCV001089167

NM_001267550.2(TTN):c.47079T>G (p.Val15693=)

SNV
Germline

Chr2:178618379

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430274676

rs_1367055779

2 SubmittersRCV000597806 RCV002532594

NM_001267550.2(TTN):c.93255G>A (p.Pro31085=)

SNV
Germline

Chr2:178548371

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1987331

rs_372611171

6 SubmittersRCV000597642 RCV000619890 RCV001078576

NM_001267550.2(TTN):c.6945A>G (p.Thr2315=)

SNV
Germline

Chr2:178774319

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA61007161

rs_879103814

4 SubmittersRCV000593221 RCV001089205 RCV004024820

NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser)

SNV
Germline

Chr2:178609711

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1994134

rs_773035917

11 SubmittersRCV000597287 RCV000852520 RCV001134844 RCV001129852 RCV001129853 RCV001129851 RCV001134845 RCV001798914 RCV002456311 RCV005431792

NM_201384.3(PLEC):c.5655G>A (p.Ala1885=)

SNV
Germline

Chr8:143924274

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926281

rs_782216683

2 SubmittersRCV000593766 RCV001082656

NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe)

SNV
Germline

Chr2:178573774

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1990511

rs_372309164

6 SubmittersRCV000596464 RCV000643217 RCV000764317 RCV003150295

NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp)

SNV
Germline

Chr2:178790021

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2005945

rs_150231219

6 SubmittersRCV000591041 RCV000643755 RCV000765595 RCV003150296

NM_001267550.2(TTN):c.8184C>G (p.Val2728=)

SNV
Germline

Chr2:178770608

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA61003840

rs_753356474

3 SubmittersRCV000594168 RCV001427410 RCV002420580

NM_013382.7(POMT2):c.2147+9C>T

SNV
Germline

Chr14:77278385

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Conflicting Classifications

CA615398566

rs_1253447533

2 SubmittersRCV000592794 RCV003767398

NM_201384.3(PLEC):c.6312G>A (p.Ala2104=)

SNV
Germline

Chr8:143923617

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926045

rs_782048792

3 SubmittersRCV000592604 RCV001084646

NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys)

SNV
Germline

Chr2:178534053

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1985734

rs_577667352

4 SubmittersRCV000727386 RCV001860207

NM_001267550.2(TTN):c.69876A>C (p.Thr23292=)

SNV
Germline

Chr2:178576256

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430258960

rs_1267766480

4 SubmittersRCV000593399 RCV000727392 RCV001461403 RCV002331023

NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter)

SNV
Germline

Chr14:77277432

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Conflicting Classifications

CA390512642

rs_1452558347

5 SubmittersRCV000592554 RCV001553651 RCV002286415 RCV002532611

NM_001267550.2(TTN):c.6243C>T (p.Phe2081=)

SNV
Germline

Chr2:178775621

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005083

rs_770052197

5 SubmittersRCV000596760 RCV001867980 RCV002358662

NM_201384.3(PLEC):c.3954C>T (p.Asp1318=)

SNV
Germline

Chr8:143926874

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA463535234

rs_1554706146

2 SubmittersRCV000595334 RCV001087027

NM_201384.3(PLEC):c.13596C>T (p.Ala4532=)

SNV
Germline

Chr8:143916225

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4923750

rs_781917029

3 SubmittersRCV000592992 RCV002062086 RCV004543377

NM_201384.3(PLEC):c.3963G>A (p.Thr1321=)

SNV
Germline

Chr8:143926865

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA463535213

rs_1405843505

2 SubmittersRCV000593191 RCV001427859

NM_201384.3(PLEC):c.2535C>T (p.Ser845=)

SNV
Germline

Chr8:143930221

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927487

rs_199721954

3 SubmittersRCV000595884 RCV001520960 RCV004530712

NM_001267550.2(TTN):c.31749T>C (p.Ala10583=)

SNV
Germline

Chr2:178692029

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430131529

rs_1553856718

2 SubmittersRCV000591891 RCV005209510

NM_001267550.2(TTN):c.59502T>C (p.Asp19834=)

SNV
Germline

Chr2:178592503

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60970715

rs_972823319

4 SubmittersRCV000593924 RCV002062087 RCV002325133

NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)

SNV
Germline

Chr15:42388996

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA16609628

rs_1555420634

7 SubmittersRCV000593803 RCV000727400 RCV005000372

NM_001267550.2(TTN):c.14372-2A>C

SNV
Germline

Chr2:178736076

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349600286

rs_747942388

2 SubmittersRCV000593692 RCV000701156

NM_201384.3(PLEC):c.5616C>T (p.Asp1872=)

SNV
Germline

Chr8:143924313

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926299

rs_371589575

2 SubmittersRCV000591942 RCV001493445

NM_201384.3(PLEC):c.1546G>A (p.Glu516Lys)

SNV
Germline

Chr8:143932984

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4927928

rs_530596364

2 SubmittersRCV000591157 RCV002062088

NM_001267550.2(TTN):c.102540T>C (p.Ser34180=)

SNV
Germline

Chr2:178534075

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1985739

rs_368844570

4 SubmittersRCV000594709 RCV001087013 RCV002395537 RCV003323629

NM_000023.4(SGCA):c.37+2C>G

SNV
Germline

Chr17:50166079

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA291568979

rs_112500642

2 SubmittersRCV000597231 RCV003471962

NM_201384.3(PLEC):c.10791C>T (p.Pro3597=)

SNV
Germline

Chr8:143919030

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924533

rs_537994918

5 SubmittersRCV000595080 RCV000727410 RCV002062089 RCV004543378

NM_201384.3(PLEC):c.2736C>G (p.Ala912=)

SNV
Germline

Chr8:143929939

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927403

rs_558031489

4 SubmittersRCV000596675 RCV001088039 RCV004737874

NM_201384.3(PLEC):c.3873G>A (p.Ala1291=)

SNV
Germline

Chr8:143927049

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926867

rs_374669316

4 SubmittersRCV000593132 RCV000648602 RCV000727412 RCV004543379

NM_001267550.2(TTN):c.95649G>A (p.Val31883=)

SNV
Germline

Chr2:178545461

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430101461

rs_1553520236

3 SubmittersRCV000597107 RCV003160053 RCV002532623

NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr)

SNV
Germline

Chr2:178778874

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005386

rs_531590921

4 SubmittersRCV000727416 RCV001083942 RCV002325134

NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys)

SNV
Germline

Chr2:71513727

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705382

rs_151054827

5 SubmittersRCV000593695 RCV000818446 RCV001276719

NM_001267550.2(TTN):c.80820A>G (p.Lys26940=)

SNV
Germline

Chr2:178565312

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430251583

rs_1553581397

2 SubmittersRCV000596275 RCV006556335

NM_001267550.2(TTN):c.68640G>A (p.Lys22880=)

SNV
Germline

Chr2:178577786

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991060

rs_370292933

4 SubmittersRCV000596448 RCV001419810 RCV002331024

NM_001267550.2(TTN):c.62844T>G (p.Pro20948=)

SNV
Germline

Chr2:178588881

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992175

rs_770335539

4 SubmittersRCV000594086 RCV001432210 RCV002509462 RCV003343936

NM_013382.7(POMT2):c.700G>A (p.Val234Ile)

SNV
Germline

Chr14:77301206

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7286103

rs_576822260

6 SubmittersRCV000596814 RCV001854096 RCV003258885

NM_201384.3(PLEC):c.11503G>A (p.Asp3835Asn)

SNV
Germline

Chr8:143918318

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
not specified

Criteria Provided
Conflicting Classifications

CA4924334

rs_368824832

5 SubmittersRCV000595617 RCV000648631 RCV004701694

NM_001267550.2(TTN):c.13872C>T (p.His4624=)

SNV
Germline

Chr2:178739361

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002513

rs_765700138

3 SubmittersRCV000598316 RCV002062090 RCV004024830

NM_001267550.2(TTN):c.44112C>T (p.His14704=)

SNV
Germline

Chr2:178630846

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1995758

rs_754693395

5 SubmittersRCV000595906 RCV000620212 RCV001495203 RCV004543382

NM_000070.3(CAPN3):c.2380+19C>T

SNV
Germline

Chr15:42411019

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511845

rs_141234995

4 SubmittersRCV000594857 RCV001278236

NM_000070.3(CAPN3):c.1783-5T>C

SNV
Germline

Chr15:42405921

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511533

rs_780680647

2 SubmittersRCV000592730 RCV001399272

NM_201384.3(PLEC):c.5013C>T (p.Arg1671=)

SNV
Germline

Chr8:143924916

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926463

rs_537901575

2 SubmittersRCV000591765 RCV000807039

NM_001267550.2(TTN):c.34930+2T>C

SNV
Germline

Chr2:178672405

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Myopathy, centronuclear, 2
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1997937

rs_749252830

8 SubmittersRCV000597258 RCV001050674 RCV001535718 RCV005404718

NM_201384.3(PLEC):c.1668C>T (p.Gly556=)

SNV
Germline

Chr8:143932862

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4927901

rs_369796183

3 SubmittersRCV000597150 RCV000648598

NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr)

SNV
Germline

Chr15:42401803

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
not specified

Criteria Provided
Conflicting Classifications

CA391999998

rs_1555422136

5 SubmittersRCV000597737 RCV000727466 RCV003471964 RCV004701696

NM_201384.3(PLEC):c.4584G>A (p.Ala1528=)

SNV
Germline

Chr8:143925345

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926609

rs_782501584

2 SubmittersRCV000596355 RCV001460365

NM_004393.6(DAG1):c.2553G>A (p.Thr851=)

SNV
Germline

Chr3:49533064

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P

Criteria Provided
Conflicting Classifications

CA2399283

rs_746978083

2 SubmittersRCV000596730 RCV003767404

NM_012470.4(TNPO3):c.1104C>T (p.Tyr368=)

SNV
Germline

Chr7:128997443

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA457588538

rs_1554439189

2 SubmittersRCV000593755 RCV005091576

NM_201384.3(PLEC):c.4044+9C>T

SNV
Germline

Chr8:143926775

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA586158307

rs_1554705813

2 SubmittersRCV000593131 RCV001078691

NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)

SNV
Germline

Chr9:131506188

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
POMT1-related congenital myopathy
not specified

Criteria Provided
Conflicting Classifications

CA5293180

rs_757903559

8 SubmittersRCV000591710 RCV000819538 RCV002532650 RCV003459474 RCV004586824 RCV005407785

NM_001267550.2(TTN):c.83351C>T (p.Thr27784Met)

SNV
Germline

Chr2:178562781

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1988932

rs_140879454

2 SubmittersRCV000595985 RCV001130883 RCV001130884 RCV001130886 RCV001130885 RCV001130887

NM_201384.3(PLEC):c.615C>T (p.Ile205=)

SNV
Germline

Chr8:143935301

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4928368

rs_199868457

2 SubmittersRCV000594644 RCV001422859

NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)

SNV
Germline

Chr9:131512044

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA375308747

rs_765230689

4 SubmittersRCV000595731 RCV000763189 RCV003767405 RCV003471965

NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)

SNV
Germline

Chr1:46190728

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscle eye brain disease
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA833311

rs_200730202

6 SubmittersRCV000592757 RCV001088509 RCV001288362 RCV001449648 RCV001835873 RCV004530719

NM_201384.3(PLEC):c.7566C>T (p.Asp2522=)

SNV
Germline

Chr8:143922255

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925585

rs_372843420

2 SubmittersRCV000596971 RCV001088932

NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter)

SNV
Germline

Chr11:22274678

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA5923526

rs_753138577

4 SubmittersRCV000593128 RCV003767406

NM_201384.3(PLEC):c.5444G>A (p.Arg1815Gln)

SNV
Germline

Chr8:143924485

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926362

rs_782213742

5 SubmittersRCV000597317 RCV001867990 RCV004024849

NM_001267550.2(TTN):c.62468G>A (p.Arg20823His)

SNV
Germline

Chr2:178589257

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992222

rs_758019778

6 SubmittersRCV000594020 RCV000643621 RCV000727490

NM_001267550.2(TTN):c.40723+8T>G

SNV
Germline

Chr2:178640533

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA538092019

rs_1219288687

2 SubmittersRCV000594410 RCV002062098

NM_001267550.2(TTN):c.5577G>A (p.Arg1859=)

SNV
Germline

Chr2:178776287

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005163

rs_551538420

4 SubmittersRCV000596191 RCV001421176 RCV002350431

NM_001267550.2(TTN):c.81147T>C (p.Ala27049=)

SNV
Germline

Chr2:178564985

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989246

rs_765706611

3 SubmittersRCV000593982 RCV001468391 RCV003302924

NM_001267550.2(TTN):c.100818T>C (p.His33606=)

SNV
Germline

Chr2:178535797

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430238629

rs_1402147578

3 SubmittersRCV000596602 RCV003767408

NM_201384.3(PLEC):c.6279G>A (p.Ala2093=)

SNV
Germline

Chr8:143923650

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926056

rs_539190005

2 SubmittersRCV000592731 RCV001082392

NM_201384.3(PLEC):c.8640C>T (p.Cys2880=)

SNV
Germline

Chr8:143921181

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925230

rs_782111379

2 SubmittersRCV000595463 RCV002065182

NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys)

SNV
Germline

Chr2:71480923

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705231

rs_772240035

6 SubmittersRCV000596018 RCV000814681 RCV001829688 RCV002532670

NM_201384.3(PLEC):c.12675C>G (p.Gly4225=)

SNV
Germline

Chr8:143917146

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4924017

rs_371534902

2 SubmittersRCV000593992 RCV002065183

NM_201384.3(PLEC):c.10178C>T (p.Ala3393Val)

SNV
Germline

Chr8:143919643

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924729

rs_370079447

6 SubmittersRCV000596668 RCV000727512 RCV000810147 RCV003160062

NM_001267550.2(TTN):c.92895C>T (p.Asn30965=)

SNV
Germline

Chr2:178548731

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430243503

rs_1379558944

3 SubmittersRCV000591570 RCV000643524 RCV003362853

NM_201384.3(PLEC):c.8577C>T (p.His2859=)

SNV
Germline

Chr8:143921244

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925261

rs_200012425

3 SubmittersRCV000595482 RCV002062105

NM_001267550.2(TTN):c.52242C>T (p.Pro17414=)

SNV
Germline

Chr2:178608769

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994028

rs_765216874

4 SubmittersRCV000593011 RCV001456308 RCV002456316

NM_213599.3(ANO5):c.1767C>A (p.Tyr589Ter)

SNV
Germline

Chr11:22262265

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA379922771

rs_188150039

4 SubmittersRCV000595828 RCV000754754 RCV006556337

NM_000070.3(CAPN3):c.864A>G (p.Ala288=)

SNV
Germline

Chr15:42390015

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA489878957

rs_1555420768

3 SubmittersRCV000591199 RCV001278221

NM_201384.3(PLEC):c.5589C>T (p.Asn1863=)

SNV
Germline

Chr8:143924340

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926315

rs_782678351

2 SubmittersRCV000597268 RCV000648626

NM_201384.3(PLEC):c.13308C>T (p.Thr4436=)

SNV
Germline

Chr8:143916513

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4923846

rs_782527767

2 SubmittersRCV000597776 RCV001085584

NM_001101426.4(CRPPA):c.677A>G (p.Tyr226Cys)

SNV
Germline

Chr7:16376099

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Conflicting Classifications

CA367001895

rs_1289931198

2 SubmittersRCV000596392 RCV003767411

NM_001267550.2(TTN):c.267G>A (p.Ala89=)

SNV
Germline

Chr2:178802166

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006378

rs_577716745

4 SubmittersRCV000593917 RCV000727529 RCV001089114 RCV002431757

NM_213599.3(ANO5):c.1332+8A>G

SNV
Germline

Chr11:22255530

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
ANO5-related disorder

Criteria Provided
Conflicting Classifications

CA5923199

rs_368857740

4 SubmittersRCV000596470 RCV001430057 RCV004530723

NM_201384.3(PLEC):c.655C>T (p.Leu219=)

SNV
Germline

Chr8:143935261

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4928361

rs_370454085

2 SubmittersRCV000591603 RCV001446156

NM_201384.3(PLEC):c.12255C>T (p.Asp4085=)

SNV
Germline

Chr8:143917566

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4924133

rs_782193445

3 SubmittersRCV000597346 RCV000727532 RCV001089438

NM_004393.6(DAG1):c.2184C>T (p.Pro728=)

SNV
Germline

Chr3:49532695

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA433840154

rs_1553653579

2 SubmittersRCV000598322 RCV002062108

NM_001267550.2(TTN):c.53881+4C>T

SNV
Germline

Chr2:178605410

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993735

rs_187632918

6 SubmittersRCV000597103 RCV000810641 RCV002456317

NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter)

SNV
Germline

Chr2:178774444

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA61007278

rs_145649088

5 SubmittersRCV000598721 RCV001369643 RCV003302927 RCV004543395

NM_001267550.2(TTN):c.14245C>T (p.Arg4749Ter)

SNV
Germline

Chr2:178738208

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349602415

rs_1553934752

3 SubmittersRCV000599003 RCV001860226 RCV005404721

NM_213599.3(ANO5):c.1088G>A (p.Trp363Ter)

SNV
Germline

Chr11:22250815

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA379921112

rs_1554929301

2 SubmittersRCV000598911 RCV000800226

NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter)

SNV
Germline

Chr2:178777249

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Condition: not provided
TTN-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349462378

rs_1554008881

6 SubmittersRCV002062110 RCV002341535 RCV005416116 RCV005431797 RCV004735656 RCV005223040

NM_001267550.2(TTN):c.30434-15G>A

SNV
Germline

Chr2:178702260

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1999168

rs_373562293

2 SubmittersRCV000609407 RCV002062122

NM_001267550.2(TTN):c.51437-9G>A

SNV
Germline

Chr2:178609995

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994188

rs_183060991

3 SubmittersRCV000608971 RCV001491312 RCV001584412

NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr)

SNV
Germline

Chr2:178548519

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987355

rs_376942948

5 SubmittersRCV000609584 RCV000643232 RCV002225685 RCV002368031

NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys)

SNV
Germline

Chr2:178557031

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988195

rs_368439674

8 SubmittersRCV000609021 RCV000643199 RCV002358669 RCV001544870

NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter)

SNV
Germline

Chr2:178592211

Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
Hypertrophic cardiomyopathy 9

Criteria Provided
Multiple Submitters
No Conflicts

CA60970456

rs_974671846

5 SubmittersRCV000601929 RCV000823931 RCV002325139 RCV002473069 RCV003338681

NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys)

SNV
Germline

Chr2:178731759

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2001913

rs_376593556

7 SubmittersRCV000611089 RCV000727862 RCV000643455

NM_017739.4(POMGNT1):c.453G>A (p.Thr151=)

SNV
Germline

Chr1:46195892

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA833721

rs_146121135

5 SubmittersRCV000731258 RCV001088027

NM_017739.4(POMGNT1):c.120+4T>C

SNV
Germline

Chr1:46197698

Conflicting classifications of pathogenicity

not specified
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA522582548

rs_1223030962

2 SubmittersRCV000612085 RCV001860355

NM_001267550.2(TTN):c.104812C>T (p.Leu34938=)

SNV
Germline

Chr2:178531803

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985355

rs_755726554

5 SubmittersRCV000599694 RCV000867039 RCV002413696 RCV003139906

NM_001267550.2(TTN):c.97605T>G (p.Ile32535Met)

SNV
Germline

Chr2:178541472

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986520

rs_760676361

4 SubmittersRCV000601157 RCV000643488 RCV000769866 RCV003139922

NM_001267550.2(TTN):c.96008T>C (p.Ile32003Thr)

SNV
Germline

Chr2:178544221

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986840

rs_745962752

4 SubmittersRCV000601678 RCV001134224 RCV001131261 RCV001131263 RCV001131260 RCV001131262 RCV003139928

NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys)

SNV
Germline

Chr2:178548412

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987338

rs_368932767

8 SubmittersRCV000643766 RCV000734327 RCV001798924 RCV002377318

NM_001267550.2(TTN):c.86821+3A>G

SNV
Germline

Chr2:178559308

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60983587

rs_1010541689

2 SubmittersRCV000609352 RCV001854152

NM_001267550.2(TTN):c.83081G>A (p.Arg27694His)

SNV
Germline

Chr2:178563051

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1988973

rs_775499341

7 SubmittersRCV000608835 RCV000861017 RCV001704702 RCV001840692 RCV001840689 RCV001840691 RCV001840690 RCV002350441 RCV004543405

NM_001267550.2(TTN):c.104449G>A (p.Glu34817Lys)

SNV
Germline

Chr2:178532166

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349411708

rs_1553488312

2 SubmittersRCV000607468 RCV003767703

NM_001267550.2(TTN):c.102363G>A (p.Lys34121=)

SNV
Germline

Chr2:178534252

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985764

rs_758224214

6 SubmittersRCV000868507 RCV001712651 RCV002395592

NM_001267550.2(TTN):c.64959G>A (p.Ala21653=)

SNV
Germline

Chr2:178584682

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991814

rs_776272431

6 SubmittersRCV000610485 RCV000941159 RCV001492679 RCV002368101

NM_001267550.2(TTN):c.97192+6G>A

SNV
Germline

Chr2:178542656

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986616

rs_367760700

8 SubmittersRCV000607160 RCV000997344 RCV001133855 RCV001133851 RCV001133853 RCV001133852 RCV001133854 RCV005404724

NM_001267550.2(TTN):c.59534G>A (p.Arg19845His)

SNV
Germline

Chr2:178592471

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992652

rs_201457934

4 SubmittersRCV000613768 RCV001132127 RCV001133053 RCV001133054 RCV001133055 RCV001133056 RCV003486894 RCV003139925

NM_001267550.2(TTN):c.92151T>C (p.Tyr30717=)

SNV
Germline

Chr2:178549571

Conflicting classifications of pathogenicity

Left ventricular noncompaction
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987489

rs_182422055

7 SubmittersRCV000845550 RCV000643779 RCV001712645 RCV001729655 RCV002368073

NM_001267550.2(TTN):c.89457A>G (p.Gly29819=)

SNV
Germline

Chr2:178553548

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430246073

rs_1553542686

6 SubmittersRCV000615384 RCV000727790 RCV002065418 RCV002368092

NM_001267550.2(TTN):c.85389C>T (p.Leu28463=)

SNV
Germline

Chr2:178560743

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1988652

rs_144731702

6 SubmittersRCV000728839 RCV001082174 RCV002358706 RCV004525983

NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met)

SNV
Germline

Chr2:178645933

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1996500

rs_766145596

6 SubmittersRCV000730971 RCV000770047 RCV000643597 RCV004735669

NM_001267550.2(TTN):c.33826+7G>A

SNV
Germline

Chr2:178678740

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1998224

rs_752099208

3 SubmittersRCV000607148 RCV001133484 RCV001133483 RCV001134975 RCV001134976 RCV001134977 RCV003767692

NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val)

SNV
Germline

Chr2:178530482

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1985159

rs_555476312

7 SubmittersRCV001337854 RCV001698004 RCV002420630 RCV004530797 RCV005404733

NM_001267550.2(TTN):c.28754-11T>C

SNV
Germline

Chr2:178707824

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1999525

rs_146738622

4 SubmittersRCV001129949 RCV001129951 RCV001129950 RCV001129952 RCV001129953 RCV001718940 RCV002064005 RCV002222564

NM_001267550.2(TTN):c.101692C>T (p.Leu33898Phe)

SNV
Germline

Chr2:178534923

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60959765

rs_371930491

2 SubmittersRCV000603355 RCV001220251

NM_001267550.2(TTN):c.98990-8T>C

SNV
Germline

Chr2:178538847

Conflicting classifications of pathogenicity

not specified
6 conditions
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430239751

rs_1553507751

4 SubmittersRCV000602889 RCV005027722 RCV005223050

NM_001267550.2(TTN):c.97294C>T (p.Leu32432=)

SNV
Germline

Chr2:178542462

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986582

rs_72648267

5 SubmittersRCV000608252 RCV000733493 RCV001454601 RCV006342402

NM_001267550.2(TTN):c.94282C>G (p.Arg31428Gly)

SNV
Germline

Chr2:178547243

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1987153

rs_190282707

4 SubmittersRCV000606918 RCV000867180 RCV003139907 RCV005027721

NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile)

SNV
Germline

Chr2:178557754

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988293

rs_750362675

7 SubmittersRCV000614303 RCV000643213 RCV001129288 RCV001129290 RCV001129289 RCV001129286 RCV001129287 RCV001698079

NM_001267550.2(TTN):c.85871G>A (p.Arg28624His)

SNV
Germline

Chr2:178560261

Conflicting classifications of pathogenicity

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988576

rs_538641703

5 SubmittersRCV000769911 RCV000872544 RCV001707764 RCV002358690

NM_001267550.2(TTN):c.82486G>A (p.Asp27496Asn)

SNV
Germline

Chr2:178563646

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989062

rs_554231442

8 SubmittersRCV000605403 RCV000643071 RCV001135733 RCV001128737 RCV001128736 RCV001135732 RCV001135734 RCV001702686 RCV002343157

NM_001267550.2(TTN):c.54811+8T>C

SNV
Germline

Chr2:178603868

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1993574

rs_747409403

3 SubmittersRCV000604371 RCV001128851 RCV001135852 RCV001135853 RCV001135850 RCV001135851 RCV005213359

NM_001267550.2(TTN):c.77913T>C (p.Tyr25971=)

SNV
Germline

Chr2:178568219

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989691

rs_72648203

6 SubmittersRCV000643038 RCV001133593 RCV001133592 RCV001133590 RCV001133591 RCV001135078 RCV001719124 RCV002334014

NM_001267550.2(TTN):c.5255G>A (p.Arg1752His)

SNV
Germline

Chr2:178776609

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005205

rs_150737838

6 SubmittersRCV000729526 RCV001087612 RCV002298706 RCV002341551

NM_001267550.2(TTN):c.74895A>G (p.Gln24965=)

SNV
Germline

Chr2:178571237

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430255296

rs_201512527

4 SubmittersRCV000614728 RCV000643003 RCV005512778

NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln)

SNV
Germline

Chr2:178777892

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2005343

rs_373690688

5 SubmittersRCV001132042 RCV001132043 RCV001132044 RCV001132045 RCV001132046 RCV002331040 RCV001697352 RCV003150298

NM_001267550.2(TTN):c.45053C>A (p.Ala15018Glu)

SNV
Germline

Chr2:178621869

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995514

rs_72677221

5 SubmittersRCV000861804 RCV001463863 RCV002404698

NM_001267550.2(TTN):c.63834C>T (p.Val21278=)

SNV
Germline

Chr2:178587377

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60965319

rs_911870330

4 SubmittersRCV000643423 RCV001697906 RCV002456369

NM_001267550.2(TTN):c.58137C>T (p.Cys19379=)

SNV
Germline

Chr2:178594357

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992926

rs_376310289

3 SubmittersRCV000817437 RCV000606520 RCV002325145

NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp)

SNV
Germline

Chr2:178589627

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992270

rs_151193056

6 SubmittersRCV000733501 RCV001082712 RCV002271538 RCV002457959

NM_001267550.2(TTN):c.39493G>A (p.Glu13165Lys)

SNV
Germline

Chr2:178651507

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996689

rs_747566528

3 SubmittersRCV000643141 RCV001704704

NM_001267550.2(TTN):c.33826+4C>T

SNV
Germline

Chr2:178678743

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998227

rs_750851792

3 SubmittersRCV000616140 RCV001050242 RCV003432649

NM_001267550.2(TTN):c.52290T>C (p.Tyr17430=)

SNV
Germline

Chr2:178608721

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60982954

rs_990974705

3 SubmittersRCV000607729 RCV000731845 RCV002528689

NM_001267550.2(TTN):c.60976G>A (p.Ala20326Thr)

SNV
Germline

Chr2:178590749

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992418

rs_370995867

5 SubmittersRCV000609383 RCV000868058 RCV002271537 RCV002457958

NM_001267550.2(TTN):c.57501T>C (p.Asn19167=)

SNV
Germline

Chr2:178597581

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993043

rs_780536141

5 SubmittersRCV000608241 RCV001459071 RCV003139909 RCV002498905 RCV004024911

NM_001267550.2(TTN):c.50268C>T (p.Tyr16756=)

SNV
Germline

Chr2:178612143

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994408

rs_748836778

5 SubmittersRCV001463080 RCV001697489 RCV001798919 RCV002448867

NM_001267550.2(TTN):c.56256G>A (p.Pro18752=)

SNV
Germline

Chr2:178599645

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993287

rs_111262307

5 SubmittersRCV000604468 RCV000729996 RCV001489575 RCV004025010

NM_001267550.2(TTN):c.52920C>T (p.Tyr17640=)

SNV
Germline

Chr2:178607867

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430271034

rs_1553687219

4 SubmittersRCV000609030 RCV000728770 RCV002431811 RCV002531633

NM_001267550.2(TTN):c.18719G>A (p.Arg6240Gln)

SNV
Germline

Chr2:178729437

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2001552

rs_761993856

5 SubmittersRCV000610462 RCV000866810 RCV001417846

NM_001267550.2(TTN):c.39709+9G>C

SNV
Germline

Chr2:178650742

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1996624

rs_765647346

7 SubmittersRCV000617013 RCV000729144 RCV001087109 RCV003150306

NM_001267550.2(TTN):c.44813T>C (p.Val14938Ala)

SNV
Germline

Chr2:178624467

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995573

rs_571522834

3 SubmittersRCV000863336 RCV001719006

NM_001267550.2(TTN):c.40558G>A (p.Val13520Ile)

SNV
Germline

Chr2:178642237

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349664595

rs_587780488

3 SubmittersRCV000729294 RCV001868069

NM_001267550.2(TTN):c.10288A>C (p.Asn3430His)

SNV
Germline

Chr2:178758999

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA2004146

rs_376029089

5 SubmittersRCV000643800 RCV001707761 RCV002331042 RCV005404729

NM_001267550.2(TTN):c.9918G>A (p.Ala3306=)

SNV
Germline

Chr2:178764597

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004226

rs_533798702

5 SubmittersRCV001132365 RCV001133299 RCV001133301 RCV001397167 RCV001132366 RCV001133300 RCV001171054 RCV001722553 RCV002384312

NM_001267550.2(TTN):c.8562G>A (p.Gln2854=)

SNV
Germline

Chr2:178770139

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004580

rs_375056408

3 SubmittersRCV001423311 RCV001718894 RCV002413719

NM_001267550.2(TTN):c.6490G>A (p.Ala2164Thr)

SNV
Germline

Chr2:178775374

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2005037

rs_56285559

4 SubmittersRCV000864818 RCV001495656

NM_001267550.2(TTN):c.31208-13G>A

SNV
Germline

Chr2:178695423

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60992063

rs_377135196

3 SubmittersRCV000608575 RCV001136300 RCV001132877 RCV001132878 RCV001132879 RCV001132880 RCV002062858

NM_001267550.2(TTN):c.15775+15A>C

SNV
Germline

Chr2:178733599

Conflicting classifications of pathogenicity

not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2002166

rs_776801864

3 SubmittersRCV000610924 RCV001128872 RCV001128873 RCV001128874 RCV001131549 RCV001131550 RCV002063204

NM_001267550.2(TTN):c.10244C>T (p.Thr3415Met)

SNV
Germline

Chr2:178759043

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004151

rs_761799688

3 SubmittersRCV000864085 RCV001698007

NM_001267550.2(TTN):c.18470T>C (p.Ile6157Thr)

SNV
Germline

Chr2:178729783

Conflicting classifications of pathogenicity

not specified
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001612

rs_371882162

4 SubmittersRCV000605914 RCV001135000 RCV001134999 RCV001133506 RCV001133507 RCV001133508 RCV001724082

NM_001267550.2(TTN):c.13458C>T (p.Asp4486=)

SNV
Germline

Chr2:178739775

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002579

rs_748885610

5 SubmittersRCV000733611 RCV001079895 RCV002377324

NM_001267550.2(TTN):c.2301A>G (p.Arg767=)

SNV
Germline

Chr2:178785917

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2005861

rs_746831560

6 SubmittersRCV000602294 RCV000643047 RCV002431826 RCV003139935 RCV004544804

NM_001267550.2(TTN):c.1584C>T (p.Ser528=)

SNV
Germline

Chr2:178792150

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006008

rs_267599093

4 SubmittersRCV000612650 RCV001392629 RCV004678763 RCV005632519

NM_000232.5(SGCB):c.243+6T>A

SNV
Germline

Chr4:52033425

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2E
Qualitative or quantitative defects of beta-sarcoglycan
Condition: not provided
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA2918485

rs_146888744

6 SubmittersRCV000874699 RCV001148511 RCV002289903 RCV005900010

NM_000337.6(SGCD):c.3+14G>A

SNV
Germline

Chr5:156329593

Conflicting classifications of pathogenicity

not specified
Qualitative or quantitative defects of delta-sarcoglycan
Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Conflicting Classifications

CA3530438

rs_538229806

3 SubmittersRCV000616866 RCV001156232 RCV002062867

NM_001101426.4(CRPPA):c.876A>G (p.Glu292=)

SNV
Germline

Chr7:16278186

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Congenital Muscular Dystrophy, alpha-dystroglycan related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4169461

rs_371300262

5 SubmittersRCV000614290 RCV000874661 RCV001164712 RCV001532103

NM_201384.3(PLEC):c.10172C>T (p.Ala3391Val)

SNV
Germline

Chr8:143919649

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924731

rs_782323037

3 SubmittersRCV001054285 RCV001697928 RCV005392173

NM_201384.3(PLEC):c.9167C>A (p.Ala3056Asp)

SNV
Germline

Chr8:143920654

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925052

rs_373831849

5 SubmittersRCV000614106 RCV001065625 RCV003129937 RCV004024970

NM_201384.3(PLEC):c.9130C>T (p.Leu3044=)

SNV
Germline

Chr8:143920691

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925061

rs_782038680

4 SubmittersRCV000611214 RCV000729222 RCV002528629 RCV004544778

NM_201384.3(PLEC):c.8202G>A (p.Ala2734=)

SNV
Germline

Chr8:143921619

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4925397

rs_782252692

3 SubmittersRCV000610298 RCV000732804 RCV002063908

NM_201384.3(PLEC):c.4220C>T (p.Ala1407Val)

SNV
Germline

Chr8:143925709

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926734

rs_548430154

6 SubmittersRCV000604760 RCV000810548 RCV000999095 RCV005392169

NM_201384.3(PLEC):c.2064G>A (p.Pro688=)

SNV
Germline

Chr8:143932148

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927719

rs_374590279

5 SubmittersRCV000616355 RCV000727819 RCV001078776 RCV004530744

NM_000445.5(PLEC):c.50A>G (p.Asn17Ser)

SNV
Germline

Chr8:143975320

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA372492150

rs_1554745695

2 SubmittersRCV000604252 RCV001343265

NM_201384.3(PLEC):c.11291C>T (p.Ala3764Val)

SNV
Germline

Chr8:143918530

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924389

rs_368803763

4 SubmittersRCV000608326 RCV001365293 RCV002531166 RCV003133396

NM_201384.3(PLEC):c.10286C>T (p.Ala3429Val)

SNV
Germline

Chr8:143919535

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4924701

rs_782556459

2 SubmittersRCV000605096 RCV000806651

NM_201384.3(PLEC):c.9211G>A (p.Ala3071Thr)

SNV
Germline

Chr8:143920610

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4925036

rs_782624968

2 SubmittersRCV000614142 RCV001855237

NM_201384.3(PLEC):c.8111A>C (p.Lys2704Thr)

SNV
Germline

Chr8:143921710

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925417

rs_376577874

3 SubmittersRCV000605089 RCV001429547 RCV003343942

NM_201384.3(PLEC):c.6469C>G (p.Leu2157Val)

SNV
Germline

Chr8:143923460

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925977

rs_558775133

4 SubmittersRCV000601790 RCV000819372 RCV003488728 RCV005392176

NM_201384.3(PLEC):c.5389C>T (p.Arg1797Cys)

SNV
Germline

Chr8:143924540

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926376

rs_782175669

3 SubmittersRCV001366050 RCV001712678 RCV002528675

NM_201384.3(PLEC):c.4843C>G (p.Gln1615Glu)

SNV
Germline

Chr8:143925086

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926523

rs_782766351

3 SubmittersRCV000601864 RCV001203650 RCV002529607

NM_201384.3(PLEC):c.3734G>A (p.Arg1245Gln)

SNV
Germline

Chr8:143927432

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926969

rs_376541112

3 SubmittersRCV000609789 RCV001342076 RCV003133397

NM_201384.3(PLEC):c.3286C>T (p.Arg1096Cys)

SNV
Germline

Chr8:143927967

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927136

rs_533410461

5 SubmittersRCV000600621 RCV000874701 RCV001289148 RCV003162735 RCV004533231

NM_201384.3(PLEC):c.3227A>G (p.Gln1076Arg)

SNV
Germline

Chr8:143929136

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4927166

rs_576369528

4 SubmittersRCV000608122 RCV000946059 RCV004584772 RCV004955716

NM_201384.3(PLEC):c.264+4C>T

SNV
Germline

Chr8:143938147

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4928556

rs_369467661

2 SubmittersRCV000609020 RCV001247469

NM_058246.4(DNAJB6):c.276A>G (p.Thr92=)

SNV
Germline

Chr7:157367413

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA4590451

rs_765815570

3 SubmittersRCV000734759 RCV001450622

NM_001101426.4(CRPPA):c.825G>A (p.Ser275=)

SNV
Germline

Chr7:16301431

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Conflicting Classifications

CA454040405

rs_766874330

3 SubmittersRCV000730559 RCV001469696

NM_001101426.4(CRPPA):c.645A>G (p.Gln215=)

SNV
Germline

Chr7:16376131

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CRPPA-related disorder

Criteria Provided
Conflicting Classifications

CA4169550

rs_532057629

5 SubmittersRCV000727713 RCV001086895 RCV004544761

NM_201384.3(PLEC):c.7915G>C (p.Glu2639Gln)

SNV
Germline

Chr8:143921906

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA372521170

rs_782614096

2 SubmittersRCV000606327 RCV002531612

NM_201384.3(PLEC):c.4137C>T (p.His1379=)

SNV
Germline

Chr8:143925792

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4926757

rs_782222813

3 SubmittersRCV000602532 RCV000732096 RCV001438502

NM_201384.3(PLEC):c.3045G>A (p.Pro1015=)

SNV
Germline

Chr8:143929450

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4927249

rs_368477108

4 SubmittersRCV000613117 RCV000999098 RCV001440768

NM_201384.3(PLEC):c.1248C>T (p.Asp416=)

SNV
Germline

Chr8:143934013

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4928087

rs_572481168

3 SubmittersRCV000606772 RCV000729419 RCV002064219

NM_201384.3(PLEC):c.1191C>A (p.Ile397=)

SNV
Germline

Chr8:143934070

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928105

rs_781888321

4 SubmittersRCV000602939 RCV000729823 RCV002065428 RCV004530806

NM_201384.3(PLEC):c.12383G>A (p.Arg4128Gln)

SNV
Germline

Chr8:143917438

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4924099

rs_533757341

2 SubmittersRCV000615675 RCV001066397

NM_201384.3(PLEC):c.11634G>A (p.Ser3878=)

SNV
Germline

Chr8:143918187

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924283

rs_375097273

6 SubmittersRCV000727731 RCV001088412 RCV004543422

NM_201384.3(PLEC):c.9116G>A (p.Ser3039Asn)

SNV
Germline

Chr8:143920705

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925066

rs_374776968

4 SubmittersRCV000693971 RCV001722597 RCV004024912

NM_201384.3(PLEC):c.9071A>C (p.Asn3024Thr)

SNV
Germline

Chr8:143920750

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA372514030

rs_535089650

2 SubmittersRCV000611393 RCV001220720

NM_201384.3(PLEC):c.8532G>C (p.Ala2844=)

SNV
Germline

Chr8:143921289

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925273

rs_782732824

3 SubmittersRCV000602974 RCV000648676 RCV000731027

NM_201384.3(PLEC):c.8175G>A (p.Thr2725=)

SNV
Germline

Chr8:143921646

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA463532414

rs_1209777415

4 SubmittersRCV000611340 RCV000728762 RCV001393106 RCV005702263

NM_201384.3(PLEC):c.7468G>C (p.Ala2490Pro)

SNV
Germline

Chr8:143922353

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA372525148

rs_1554689498

2 SubmittersRCV000606128 RCV001860281

NM_201384.3(PLEC):c.7097G>A (p.Arg2366Gln)

SNV
Germline

Chr8:143922832

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925761

rs_576252504

4 SubmittersRCV000610650 RCV001362332 RCV003129935

NM_201384.3(PLEC):c.6845G>A (p.Arg2282Gln)

SNV
Germline

Chr8:143923084

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4925830

rs_782316711

3 SubmittersRCV000602515 RCV000712755 RCV001860323

NM_001077365.2(POMT1):c.699+72T>C

SNV
Germline

Chr9:131510068

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Conflicting Classifications

CA200784552

rs_200780140

2 SubmittersRCV000614427 RCV001860280

NM_001077365.2(POMT1):c.1825+6T>C

SNV
Germline

Chr9:131521478

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Conflicting Classifications

CA590755029

rs_1366898427

2 SubmittersRCV000601191 RCV002532757

NM_213599.3(ANO5):c.1222C>T (p.Leu408=)

SNV
Germline

Chr11:22255412

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA218757794

rs_997655691

4 SubmittersRCV000612695 RCV000734665 RCV002062997

NM_000231.3(SGCG):c.505+15G>A

SNV
Germline

Chr13:23279493

Conflicting classifications of pathogenicity

not specified
Sarcoglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA6909705

rs_144143366

3 SubmittersRCV000611026 RCV001111150 RCV002063876

NM_000070.3(CAPN3):c.468C>T (p.Ile156=)

SNV
Germline

Chr15:42386255

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7511021

rs_143942248

3 SubmittersRCV001395030 RCV001698499

NM_000070.3(CAPN3):c.552G>A (p.Thr184=)

SNV
Germline

Chr15:42387806

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511053

rs_147808529

6 SubmittersRCV000605183 RCV000730156 RCV001079344

NM_000070.3(CAPN3):c.1800+12G>A

SNV
Germline

Chr15:42405955

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511541

rs_542523863

4 SubmittersRCV000609014 RCV001116288

NM_000070.3(CAPN3):c.945+15G>A

SNV
Germline

Chr15:42390111

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511177

rs_567256305

3 SubmittersRCV000602800 RCV001119212

NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)

SNV
Germline

Chr2:178527548

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA60949220

rs_1009131948

5 SubmittersRCV000619039 RCV001004985 RCV001389433 RCV002483701 RCV003151795

NM_001267550.2(TTN):c.105180G>T (p.Glu35060Asp)

SNV
Germline

Chr2:178531435

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA349409323

rs_56308529

3 SubmittersRCV000621956 RCV001860374 RCV006459674

NM_001267550.2(TTN):c.100058T>C (p.Ile33353Thr)

SNV
Germline

Chr2:178537051

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1986083

rs_138234724

4 SubmittersRCV000617377 RCV000643506 RCV001562342 RCV005404747

NM_001267550.2(TTN):c.93576T>C (p.Ala31192=)

SNV
Germline

Chr2:178548050

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1987279

rs_377521708

3 SubmittersRCV000621164 RCV001132226 RCV001129495 RCV001132227 RCV001132228 RCV001129496 RCV001496580

NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter)

SNV
Germline

Chr2:178555037

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349527671

rs_1553547657

2 SubmittersRCV000617567 RCV000642747

NM_001267550.2(TTN):c.86620G>T (p.Gly28874Ter)

SNV
Germline

Chr2:178559512

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349542598

rs_765852996

2 SubmittersRCV000618263 RCV005209519

NM_001267550.2(TTN):c.78000A>G (p.Thr26000=)

SNV
Germline

Chr2:178568132

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430253396

rs_1178033234

3 SubmittersRCV000620834 RCV002060665 RCV003139942

NM_001267550.2(TTN):c.77302C>A (p.Leu25768Ile)

SNV
Germline

Chr2:178568830

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1989796

rs_541266544

4 SubmittersRCV000620531 RCV000871033 RCV002066934

NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter)

SNV
Germline

Chr2:178568905

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349611790

rs_765997807

2 SubmittersRCV000621085 RCV001231073

NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter)

SNV
Germline

Chr2:178570158

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait

Criteria Provided
Multiple Submitters
No Conflicts

CA349618632

rs_1553602546

3 SubmittersRCV000618810 RCV000800140 RCV003319989

NM_001267550.2(TTN):c.73783G>A (p.Ala24595Thr)

SNV
Germline

Chr2:178572349

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1990313

rs_543275318

6 SubmittersRCV000621417 RCV000643363 RCV001170334 RCV001597186 RCV004544807

NM_001267550.2(TTN):c.62611C>G (p.Leu20871Val)

SNV
Germline

Chr2:178589114

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
not specified

Criteria Provided
Conflicting Classifications

CA1992201

rs_767670018

4 SubmittersRCV000618178 RCV001130542 RCV001130544 RCV001130546 RCV001578203 RCV001130543 RCV001130545 RCV005407806

NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter)

SNV
Germline

Chr2:178592545

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349493406

rs_1250461669

5 SubmittersRCV000622152 RCV001594400 RCV003767781 RCV004797841 RCV004525986

NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter)

SNV
Germline

Chr2:178612851

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349600656

rs_1471414348

3 SubmittersRCV000617825 RCV001239022 RCV004796251

NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter)

SNV
Germline

Chr2:178612863

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349600711

rs_1553699454

2 SubmittersRCV000617296 RCV001860375

NM_001267550.2(TTN):c.43255G>A (p.Val14419Ile)

SNV
Germline

Chr2:178632751

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1995904

rs_529018517

6 SubmittersRCV000617443 RCV000871034 RCV001473643 RCV004533274

NM_001267550.2(TTN):c.8937C>T (p.Asn2979=)

SNV
Germline

Chr2:178768899

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004474

rs_368525666

6 SubmittersRCV000621563 RCV001170096 RCV001396119 RCV002282265 RCV002491311 RCV003432653

NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln)

SNV
Germline

Chr2:178782871

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005663

rs_368885310

5 SubmittersRCV000618628 RCV000643738 RCV000728296

NM_001267550.2(TTN):c.2089A>T (p.Lys697Ter)

SNV
Germline

Chr2:178786129

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349502198

rs_1554023044

2 SubmittersRCV000620965 RCV006556438

NM_001267550.2(TTN):c.111G>C (p.Val37=)

SNV
Germline

Chr2:178802322

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA2006414

rs_373923523

4 SubmittersRCV000619184 RCV000769151 RCV000867668 RCV005404741

NM_001267550.2(TTN):c.66770-2A>C

SNV
Germline

Chr2:178580611

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349426176

rs_1553624468

2 SubmittersRCV001067918 RCV005400737

NM_001267550.2(TTN):c.94906G>A (p.Asp31636Asn)

SNV
Germline

Chr2:178546425

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1987045

rs_776793953

2 SubmittersRCV000625860 RCV000871094

NM_001267550.2(TTN):c.33826+1G>A

SNV
Germline

Chr2:178678746

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA349532964

rs_1389908421

5 SubmittersRCV000625949 RCV001771842 RCV001860469 RCV005627376

NM_015602.4(TOR1AIP1):c.1427C>T (p.Ala476Val)

SNV
Unknown

Chr1:179917914

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Single Submitter

CA1269145

rs_201518227

1 SubmittersRCV000626055

NM_024301.5(FKRP):c.-272G>A

SNV
Germline

Chr19:46746071

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658799254

rs_1555735545

2 SubmittersRCV000626047 RCV004791634

NM_213599.3(ANO5):c.1965G>C (p.Trp655Cys)

SNV
Germline

Chr11:22270378

Pathogenic/Likely pathogenic

Elevated circulating creatine kinase concentration
Fatty replacement of skeletal muscle
Distal muscle weakness
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA5923415

rs_760137559

4 SubmittersRCV000627022 RCV001860483 RCV005409691 RCV006459690

NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter)

SNV
Germline

Chr2:178552907

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349514407

rs_376543931

3 SubmittersRCV000627373 RCV002467946 RCV003767844

NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)

SNV
Germline

Chr4:52029716

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA96782984

rs_1013015106

6 SubmittersRCV000627315 RCV001209561 RCV005000388

NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter)

SNV
Germline

Chr9:131515460

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Multiple Submitters
No Conflicts

CA375309889

rs_1554778005

3 SubmittersRCV000627277 RCV003459477 RCV006556467

NM_015602.4(TOR1AIP1):c.155A>T (p.Gln52Leu)

SNV
Germline

Chr1:179882657

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Y
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1268674

rs_139690983

4 SubmittersRCV000653384 RCV001556446

NM_017739.4(POMGNT1):c.1099C>T (p.Arg367Cys)

SNV
Germline

Chr1:46193316

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Conflicting Classifications

CA833501

rs_36038536

3 SubmittersRCV000648205 RCV001835049 RCV005411526

NM_001161403.3(LIMS2):c.882C>A (p.Asn294Lys)

SNV
Germline

Chr2:127639425

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2W
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1862819

rs_149101001

3 SubmittersRCV000652650 RCV004692045

NM_001267550.2(TTN):c.105091G>A (p.Val35031Met)

SNV
Germline

Chr2:178531524

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1985308

rs_552058608

6 SubmittersRCV000643471 RCV002406402 RCV001577593 RCV005405231

NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter)

SNV
Germline

Chr2:178532100

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349411489

rs_1553488049

5 SubmittersRCV000642787 RCV001784217 RCV002397233 RCV003486902

NM_001267550.2(TTN):c.106511G>C (p.Ser35504Thr)

SNV
Germline

Chr2:178529980

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985096

rs_575070622

5 SubmittersRCV000643595 RCV000997312 RCV002422318

NM_001267550.2(TTN):c.95085G>T (p.Gly31695=)

SNV
Germline

Chr2:178546246

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987023

rs_746787955

4 SubmittersRCV000642781 RCV001131741 RCV001131742 RCV001131743 RCV001131744 RCV001131745 RCV002473086 RCV003162901

NM_001267550.2(TTN):c.99254G>A (p.Arg33085His)

SNV
Germline

Chr2:178538575

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1986231

rs_777035261

6 SubmittersRCV000643240 RCV000836270 RCV000764300 RCV002369697 RCV004533356

NM_001267550.2(TTN):c.93474C>T (p.Asp31158=)

SNV
Germline

Chr2:178548152

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987297

rs_750803038

5 SubmittersRCV000643714 RCV000768858 RCV001555172 RCV002307570 RCV002360587

NM_001267550.2(TTN):c.96445A>G (p.Met32149Val)

SNV
Germline

Chr2:178543528

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA60969988

rs_972033083

2 SubmittersRCV000642792 RCV005405219

NM_001267550.2(TTN):c.91669C>T (p.Arg30557Ter)

SNV
Germline

Chr2:178550169

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349499329

rs_1553536305

4 SubmittersRCV000642740 RCV002360580 RCV004588068 RCV006556483

NM_001267550.2(TTN):c.95983G>A (p.Glu31995Lys)

SNV
Germline

Chr2:178544246

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1986845

rs_776682000

7 SubmittersRCV000643644 RCV001170756 RCV002360586 RCV003140014 RCV005405233

NM_001267550.2(TTN):c.92797C>T (p.Gln30933Ter)

SNV
Germline

Chr2:178548829

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Primary familial dilated cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349490836

rs_1553532356

4 SubmittersRCV000642695 RCV002360579 RCV005431833 RCV005414518

NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys)

SNV
Germline

Chr2:178547177

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1987145

rs_541040798

5 SubmittersRCV000727707 RCV001088556 RCV001195179 RCV004544861

NM_001267550.2(TTN):c.94220-1G>A

SNV
Germline

Chr2:178547306

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349476428

rs_1553525592

1 SubmittersRCV000642799

NM_001267550.2(TTN):c.107387A>C (p.Glu35796Ala)

SNV
Germline

Chr2:178527739

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349401143

rs_1553478042

6 SubmittersRCV000642697 RCV000762291 RCV003987639

NM_001267550.2(TTN):c.85838C>T (p.Thr28613Ile)

SNV
Germline

Chr2:178560294

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1988580

rs_368615862

4 SubmittersRCV000643460 RCV000764306 RCV005632557 RCV005405230

NM_001267550.2(TTN):c.85450G>T (p.Asp28484Tyr)

SNV
Germline

Chr2:178560682

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1988640

rs_56330345

4 SubmittersRCV000643310 RCV003139993 RCV005405228

NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn)

SNV
Germline

Chr2:178557504

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1988262

rs_757300589

9 SubmittersRCV000643059 RCV000727830 RCV001193773 RCV002358829 RCV003486903

NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu)

SNV
Germline

Chr2:178562860

Conflicting classifications of pathogenicity

Condition: not provided
Amyloidosis, hereditary systemic 1
not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1988949

rs_188323108

7 SubmittersRCV000643302 RCV000852804 RCV000825689 RCV001085404 RCV001293123 RCV004533357

NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr)

SNV
Germline

Chr2:178565904

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1989375

rs_368263400

5 SubmittersRCV000643444 RCV002343297 RCV003140004 RCV002483848 RCV002509489

NM_001267550.2(TTN):c.101439G>A (p.Lys33813=)

SNV
Germline

Chr2:178535176

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60959919

rs_72629781

3 SubmittersRCV000642889 RCV002477417 RCV002386070

NM_001267550.2(TTN):c.78075C>A (p.Tyr26025Ter)

SNV
Germline

Chr2:178568057

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349603821

rs_1553597198

1 SubmittersRCV000642778

NM_001267550.2(TTN):c.77781T>G (p.Ile25927Met)

SNV
Germline

Chr2:178568351

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA349604843

rs_1226545466

3 SubmittersRCV000643123 RCV005405225

NM_001267550.2(TTN):c.82879C>T (p.Gln27627Ter)

SNV
Germline

Chr2:178563253

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349570886

rs_747365357

3 SubmittersRCV000642770 RCV005630772

NM_001267550.2(TTN):c.85755T>A (p.Tyr28585Ter)

SNV
Germline

Chr2:178560377

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349548137

rs_1553562490

1 SubmittersRCV000642803

NM_001267550.2(TTN):c.75011G>A (p.Arg25004His)

SNV
Germline

Chr2:178571121

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60996599

rs_909041164

3 SubmittersRCV000643357 RCV001171269 RCV003139997

NM_001267550.2(TTN):c.82448A>G (p.Lys27483Arg)

SNV
Germline

Chr2:178563684

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60987026

rs_937111656

3 SubmittersRCV000642919 RCV000828354 RCV002343288

NM_001267550.2(TTN):c.79068A>G (p.Glu26356=)

SNV
Germline

Chr2:178567064

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989532

rs_375454098

5 SubmittersRCV000642723 RCV003162900 RCV003488754 RCV004692011

NM_001267550.2(TTN):c.78756T>C (p.Ile26252=)

SNV
Germline

Chr2:178567376

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989568

rs_372319281

4 SubmittersRCV000643543 RCV001089358 RCV001132539 RCV001132540 RCV001129847 RCV001132537 RCV001132538 RCV003162905

NM_001267550.2(TTN):c.96311-4T>C

SNV
Germline

Chr2:178543666

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA658795968

rs_1553518208

2 SubmittersRCV000643374 RCV002360585

NM_001267550.2(TTN):c.76069C>T (p.Arg25357Cys)

SNV
Germline

Chr2:178570063

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA1989958

rs_145437410

2 SubmittersRCV000642962 RCV001134105 RCV001134106 RCV001134107 RCV001134108 RCV001134104

NM_001267550.2(TTN):c.74638C>T (p.Gln24880Ter)

SNV
Germline

Chr2:178571494

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349632580

rs_1553604869

1 SubmittersRCV000642783

NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter)

SNV
Germline

Chr2:178547120

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349474274

rs_1553524697

4 SubmittersRCV000642818 RCV002360581 RCV004764935 RCV004773061

NM_001267550.2(TTN):c.72231A>G (p.Glu24077=)

SNV
Germline

Chr2:178573901

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430257545

rs_1423712037

3 SubmittersRCV000643474 RCV000997397 RCV002331184

NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser)

SNV
Germline

Chr2:178576317

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1990873

rs_758398301

6 SubmittersRCV000643511 RCV001566439 RCV003323653 RCV003150315

NM_001267550.2(TTN):c.92905C>T (p.Arg30969Trp)

SNV
Germline

Chr2:178548721

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1987388

rs_754767262

5 SubmittersRCV000643822 RCV002360589 RCV004545797 RCV004692016 RCV005405235

NM_001267550.2(TTN):c.76699G>T (p.Val25567Phe)

SNV
Germline

Chr2:178569433

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1989872

rs_3813244

6 SubmittersRCV000643032 RCV001131019 RCV001131021 RCV001131018 RCV001131020 RCV001131017 RCV001584482 RCV003235323

NM_001267550.2(TTN):c.76087C>T (p.Arg25363Cys)

SNV
Germline

Chr2:178570045

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1989955

rs_757511354

3 SubmittersRCV000643501 RCV002222577

NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met)

SNV
Germline

Chr2:178576175

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990856

rs_540840413

4 SubmittersRCV000642856 RCV000732767

NM_001267550.2(TTN):c.68513C>T (p.Ala22838Val)

SNV
Germline

Chr2:178578002

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991092

rs_372075439

5 SubmittersRCV000642737 RCV001584480 RCV001798938 RCV002331178

NM_001267550.2(TTN):c.68825-7T>A

SNV
Germline

Chr2:178577517

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1991025

rs_767881914

5 SubmittersRCV000643819 RCV001584484 RCV003323654 RCV003150317

NM_001267550.2(TTN):c.67897G>T (p.Glu22633Ter)

SNV
Germline

Chr2:178579133

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349422569

rs_1553621179

1 SubmittersRCV000642769

NM_001267550.2(TTN):c.72992G>A (p.Arg24331His)

SNV
Germline

Chr2:178573140

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990428

rs_755174224

4 SubmittersRCV000735174 RCV001086989 RCV002334128

NM_001267550.2(TTN):c.71305A>T (p.Thr23769Ser)

SNV
Germline

Chr2:178574827

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990651

rs_776889753

2 SubmittersRCV000643789 RCV000829330

NM_001267550.2(TTN):c.66778G>C (p.Glu22260Gln)

SNV
Germline

Chr2:178580601

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1991432

rs_553988103

5 SubmittersRCV000643890 RCV000840893 RCV005405237

NM_001267550.2(TTN):c.66057A>G (p.Lys22019=)

SNV
Germline

Chr2:178582399

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991587

rs_372989710

4 SubmittersRCV000643165 RCV000729834 RCV005772009

NM_001267550.2(TTN):c.83410G>A (p.Glu27804Lys)

SNV
Germline

Chr2:178562722

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988922

rs_759095633

3 SubmittersRCV000643528 RCV001592791 RCV002343298

NM_001267550.2(TTN):c.65566G>A (p.Ala21856Thr)

SNV
Germline

Chr2:178583616

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991684

rs_752176305

3 SubmittersRCV000643247 RCV003139988

NM_001267550.2(TTN):c.82350T>G (p.Tyr27450Ter)

SNV
Germline

Chr2:178563782

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349573976

rs_1060503941

1 SubmittersRCV000642779

NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter)

SNV
Germline

Chr2:178591418

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349485552

rs_1553644307

3 SubmittersRCV000642774 RCV000768973 RCV002325257

NM_001267550.2(TTN):c.60192T>C (p.Thr20064=)

SNV
Germline

Chr2:178591627

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA430266829

rs_1215674180

2 SubmittersRCV000643889 RCV001129301 RCV001129302 RCV001129303 RCV001129304 RCV001136290

NM_001267550.2(TTN):c.75816C>T (p.Gly25272=)

SNV
Germline

Chr2:178570316

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1989998

rs_770708534

4 SubmittersRCV000642711 RCV002493004 RCV003162899 RCV004689823

NM_001267550.2(TTN):c.58874G>A (p.Trp19625Ter)

SNV
Germline

Chr2:178593334

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349501161

rs_1553649122

2 SubmittersRCV000642718 RCV005772007

NM_001267550.2(TTN):c.52406-2A>C

SNV
Germline

Chr2:178608479

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993995

rs_753798236

5 SubmittersRCV000642796 RCV001784218 RCV002458070

NM_001267550.2(TTN):c.73822G>A (p.Ala24608Thr)

SNV
Germline

Chr2:178572310

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990308

rs_750166986

2 SubmittersRCV000643293 RCV002331181

NM_001267550.2(TTN):c.50954C>T (p.Thr16985Ile)

SNV
Germline

Chr2:178611175

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994274

rs_116765281

4 SubmittersRCV000642936 RCV000828852 RCV002458072

NM_001267550.2(TTN):c.52385T>A (p.Leu17462His)

SNV
Germline

Chr2:178608626

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA349574356

rs_1216814159

2 SubmittersRCV000642948 RCV005405222

NM_001267550.2(TTN):c.67685C>A (p.Ala22562Asp)

SNV
Germline

Chr2:178579345

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1991252

rs_776797528

3 SubmittersRCV000642995 RCV002499085 RCV005405223

NM_001267550.2(TTN):c.50308C>T (p.Leu16770=)

SNV
Germline

Chr2:178612103

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994397

rs_370782852

3 SubmittersRCV000643731 RCV002449023 RCV003140021

NM_001267550.2(TTN):c.49698A>G (p.Thr16566=)

SNV
Germline

Chr2:178613023

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994530

rs_778112130

2 SubmittersRCV000642722 RCV002424455

NM_001267550.2(TTN):c.63255G>A (p.Trp21085Ter)

SNV
Germline

Chr2:178588152

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349454778

rs_1553638539

1 SubmittersRCV000642738

NM_001267550.2(TTN):c.62896C>T (p.Arg20966Cys)

SNV
Germline

Chr2:178588829

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992168

rs_767887086

3 SubmittersRCV000643920 RCV000765562 RCV002458077

NM_001267550.2(TTN):c.45652C>T (p.Arg15218Trp)

SNV
Germline

Chr2:178620958

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995385

rs_371621174

3 SubmittersRCV000643380 RCV001001219 RCV001568469

NM_001267550.2(TTN):c.44913+1G>T

SNV
Germline

Chr2:178622669

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349638533

rs_1553721106

2 SubmittersRCV000642808 RCV005512786

NM_001267550.2(TTN):c.39064G>A (p.Val13022Ile)

SNV
Germline

Chr2:178652521

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1996878

rs_767090806

2 SubmittersRCV000643370 RCV005405229

NM_001267550.2(TTN):c.44542G>A (p.Val14848Met)

SNV
Germline

Chr2:178625279

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995621

rs_759373140

3 SubmittersRCV000643312 RCV002397237 RCV003139994

NM_001267550.2(TTN):c.44349C>T (p.Phe14783=)

SNV
Germline

Chr2:178629376

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995672

rs_367744803

3 SubmittersRCV000642865 RCV003303035 RCV003139975

NM_001267550.2(TTN):c.57388G>T (p.Glu19130Ter)

SNV
Germline

Chr2:178597694

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349521015

rs_1553659628

2 SubmittersRCV000642821 RCV005512788

NM_001267550.2(TTN):c.36448G>T (p.Val12150Leu)

SNV
Germline

Chr2:178663819

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1997482

rs_371317962

3 SubmittersRCV000643204 RCV000765580 RCV005405226

NM_001267550.2(TTN):c.29227G>A (p.Gly9743Ser)

SNV
Germline

Chr2:178706647

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999420

rs_368073588

3 SubmittersRCV000643099 RCV001577490

NM_001267550.2(TTN):c.28151C>G (p.Ser9384Cys)

SNV
Germline

Chr2:178711085

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999652

rs_760466007

3 SubmittersRCV000643201 RCV000828989

NM_001267550.2(TTN):c.27427G>T (p.Val9143Phe)

SNV
Germline

Chr2:178712495

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions

Criteria Provided
Conflicting Classifications

CA1999808

rs_186857044

5 SubmittersRCV000769905 RCV001561069 RCV000643598 RCV005027761

NM_001267550.2(TTN):c.52313G>A (p.Gly17438Glu)

SNV
Germline

Chr2:178608698

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349575049

rs_1356720044

3 SubmittersRCV000643749 RCV005628267 RCV003140023

NM_001267550.2(TTN):c.24833G>C (p.Gly8278Ala)

SNV
Germline

Chr2:178718173

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000336

rs_778611558

5 SubmittersRCV000643127 RCV000828678

NM_001267550.2(TTN):c.51175A>G (p.Ile17059Val)

SNV
Germline

Chr2:178610351

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994231

rs_188395969

4 SubmittersRCV000643244 RCV003486904 RCV002449022 RCV003139987

NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg)

SNV
Germline

Chr2:178614664

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1994734

rs_368527534

5 SubmittersRCV000642785 RCV001131283 RCV001131284 RCV001131285 RCV001131287 RCV001131286 RCV001805774 RCV002424456 RCV006277964

NM_001267550.2(TTN):c.18589+4C>T

SNV
Germline

Chr2:178729660

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA538437743

rs_1449021840

2 SubmittersRCV000643175 RCV003326481

NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr)

SNV
Germline

Chr2:178712572

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999819

rs_375907742

6 SubmittersRCV000643429 RCV000852885 RCV000727799

NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter)

SNV
Germline

Chr2:178675081

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
6 conditions
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA349524427

rs_1441434215

6 SubmittersRCV000642807 RCV001170391 RCV002285385 RCV002477416 RCV004545796

NM_001267550.2(TTN):c.48461-2A>C

SNV
Germline

Chr2:178615486

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349609475

rs_1553705079

1 SubmittersRCV000642823

NM_001267550.2(TTN):c.15475A>G (p.Met5159Val)

SNV
Germline

Chr2:178734349

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA349593910

rs_1553929310

2 SubmittersRCV000643104 RCV005405224

NM_001267550.2(TTN):c.12316C>T (p.Gln4106Ter)

SNV
Germline

Chr2:178740917

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349615627

rs_1553940122

4 SubmittersRCV000642815 RCV004017705 RCV004025646

NM_001267550.2(TTN):c.25155C>T (p.Gly8385=)

SNV
Germline

Chr2:178717719

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000274

rs_772383867

2 SubmittersRCV000643699 RCV003140019

NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys)

SNV
Germline

Chr2:178695916

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
not specified
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999021

rs_772195716

7 SubmittersRCV000643143 RCV001129322 RCV001129321 RCV001136306 RCV000756840 RCV002222576 RCV001129323 RCV001136307

NM_001267550.2(TTN):c.47430T>C (p.Thr15810=)

SNV
Germline

Chr2:178617921

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1995046

rs_373878153

4 SubmittersRCV000643320 RCV002422316 RCV003139995 RCV004533358

NM_001267550.2(TTN):c.2967C>A (p.Phe989Leu)

SNV
Germline

Chr2:178782939

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005674

rs_376548316

3 SubmittersRCV000642830 RCV002440296 RCV005000440

NM_001267550.2(TTN):c.2744G>C (p.Arg915Pro)

SNV
Germline

Chr2:178784101

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60982422

rs_376922544

4 SubmittersRCV000643659 RCV003140015 RCV003486906 RCV002440300

NM_001267550.2(TTN):c.2061A>G (p.Gln687=)

SNV
Germline

Chr2:178789375

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005916

rs_188680791

6 SubmittersRCV000642833 RCV000828783 RCV002406396

NM_001267550.2(TTN):c.899C>A (p.Thr300Asn)

SNV
Germline

Chr2:178799502

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006201

rs_376737897

4 SubmittersRCV000643132 RCV001532889 RCV001570946

NM_001267550.2(TTN):c.42672G>T (p.Leu14224=)

SNV
Germline

Chr2:178633827

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1996037

rs_368155350

6 SubmittersRCV000727963 RCV001088633 RCV002397239 RCV005000443

NM_001267550.2(TTN):c.41609-2A>G

SNV
Germline

Chr2:178635717

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349657872

rs_730880244

1 SubmittersRCV000642788

NM_001267550.2(TTN):c.20837-1G>A

SNV
Germline

Chr2:178724539

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349540261

rs_1553914337

1 SubmittersRCV000643014

NM_001267550.2(TTN):c.40636C>A (p.Pro13546Thr)

SNV
Germline

Chr2:178640628

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349664050

rs_1393076582

2 SubmittersRCV000643408 RCV001592790

NM_001267550.2(TTN):c.39802G>T (p.Val13268Phe)

SNV
Germline

Chr2:178650179

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996603

rs_759268958

3 SubmittersRCV000643397 RCV000829106

NM_001267550.2(TTN):c.19770A>G (p.Thr6590=)

SNV
Germline

Chr2:178727808

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
not specified
Cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2001339

rs_775289296

8 SubmittersRCV000828821 RCV001129431 RCV001129433 RCV001129430 RCV001129432 RCV001494210 RCV001136412 RCV001729671 RCV003486905 RCV004533362

NM_001267550.2(TTN):c.8365A>T (p.Arg2789Ter)

SNV
Germline

Chr2:178770427

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349677563

rs_1553995241

1 SubmittersRCV000642817

NM_001267550.2(TTN):c.3386A>G (p.Lys1129Arg)

SNV
Germline

Chr2:178781258

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA2005562

rs_181375012

3 SubmittersRCV000643497 RCV001132372 RCV002325259 RCV001132368 RCV001132369 RCV001132370 RCV001132371

NM_001267550.2(TTN):c.2083G>A (p.Val695Ile)

SNV
Germline

Chr2:178786135

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA2005898

rs_747479318

4 SubmittersRCV000643879 RCV002493021 RCV005405236

NM_001267550.2(TTN):c.11066T>C (p.Ile3689Thr)

SNV
Germline

Chr2:178756410

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2003996

rs_527924868

5 SubmittersRCV000642895 RCV001729669 RCV002469230

NM_001267550.2(TTN):c.25640-8T>C

SNV
Germline

Chr2:178715782

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658796052

rs_1184501172

2 SubmittersRCV000643916 RCV000997526

NM_001267550.2(TTN):c.23996G>C (p.Gly7999Ala)

SNV
Germline

Chr2:178719394

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA2000518

rs_750389762

2 SubmittersRCV000643801 RCV005628268

NM_001267550.2(TTN):c.19949A>G (p.Asn6650Ser)

SNV
Germline

Chr2:178727629

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2001303

rs_751222632

5 SubmittersRCV005632561 RCV005392210 RCV000643575 RCV003150316

NM_001267550.2(TTN):c.2767G>A (p.Glu923Lys)

SNV
Germline

Chr2:178784078

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA2005742

rs_369195237

6 SubmittersRCV000642896 RCV001192387 RCV001592788 RCV002424457 RCV005392209

NM_001267550.2(TTN):c.2360T>C (p.Ile787Thr)

SNV
Germline

Chr2:178785858

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005850

rs_143444636

5 SubmittersRCV000642937 RCV001570866 RCV002424459

NM_001267550.2(TTN):c.14873A>G (p.Tyr4958Cys)

SNV
Germline

Chr2:178735573

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2002333

rs_530572005

5 SubmittersRCV000643013 RCV000713972 RCV001129110 RCV001129111 RCV001129112 RCV001129113 RCV001131798

NM_001267550.2(TTN):c.10759A>C (p.Thr3587Pro)

SNV
Germline

Chr2:178756717

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60993591

rs_370496599

2 SubmittersRCV000643065 RCV001662694

NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His)

SNV
Germline

Chr2:71551082

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705873

rs_777489323

5 SubmittersRCV000647986 RCV000765696 RCV001662702 RCV001835043

NM_001130987.2(DYSF):c.5317+1G>A

SNV
Germline

Chr2:71665305

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA1707318

rs_773386253

5 SubmittersRCV000647996 RCV000669143 RCV000733066 RCV002499105

NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met)

SNV
Germline

Chr2:71669174

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707445

rs_199649417

4 SubmittersRCV000648015 RCV001276864 RCV002222581 RCV003144430

NM_001130987.2(DYSF):c.280G>C (p.Ala94Pro)

SNV
Germline

Chr2:71503254

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705302

rs_759171890

5 SubmittersRCV000647989 RCV001835044 RCV005054235

NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val)

SNV
Germline

Chr2:71658989

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707160

rs_571364996

3 SubmittersRCV000648011 RCV001563807 RCV001563809 RCV001563808

NM_001130987.2(DYSF):c.308A>G (p.Asn103Ser)

SNV
Germline

Chr2:71503282

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705307

rs_201834175

3 SubmittersRCV000647984 RCV001253301 RCV005632566

NM_001130987.2(DYSF):c.1256G>A (p.Arg419Gln)

SNV
Germline

Chr2:71526326

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705662

rs_776036392

3 SubmittersRCV000647995 RCV001835045 RCV003162956

NM_001130987.2(DYSF):c.1676A>G (p.Glu559Gly)

SNV
Germline

Chr2:71551140

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705883

rs_541663451

4 SubmittersRCV000648014 RCV001829805 RCV003243237 RCV005632567

NM_001130987.2(DYSF):c.5363G>A (p.Arg1788His)

SNV
Germline

Chr2:71667421

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707346

rs_531935195

4 SubmittersRCV000647987 RCV001276860 RCV003144428

NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys)

SNV
Germline

Chr2:71679080

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707548

rs_144116735

5 SubmittersRCV000648022 RCV001276870 RCV001311193

NM_021942.6(TRAPPC11):c.2084C>T (p.Thr695Met)

SNV
Germline

Chr4:183692994

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type R18
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3152103

rs_759325090

3 SubmittersRCV000651604 RCV005762072

NM_021942.6(TRAPPC11):c.735-2A>G

SNV
Germline

Chr4:183677456

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

CA358861774

rs_1554007706

1 SubmittersRCV000651606

NM_021942.6(TRAPPC11):c.2641A>G (p.Thr881Ala)

SNV
Germline

Chr4:183697515

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type R18
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3152264

rs_772814181

2 SubmittersRCV000651603 RCV004965637

NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys)

SNV
Germline

Chr4:52028800

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356876804

rs_1365923535

3 SubmittersRCV000642670 RCV001726283

NM_000232.5(SGCB):c.28G>T (p.Glu10Ter)

SNV
Germline

Chr4:52038232

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356878678

rs_1448040082

3 SubmittersRCV000642669 RCV000728183

NM_031372.4(HNRNPDL):c.248C>T (p.Pro83Leu)

SNV
Germline

Chr4:82429443

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1G
not specified

Criteria Provided
Conflicting Classifications

CA2985104

rs_201774571

3 SubmittersRCV000639992 RCV004025591

NM_000337.6(SGCD):c.4-1G>A

SNV
Germline

Chr5:156344488

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2F
Dilated cardiomyopathy 1L
Condition: not provided

Criteria Provided
Conflicting Classifications

CA362007486

rs_1554094927

3 SubmittersRCV000639550 RCV000755689 RCV001785688

NM_201384.3(PLEC):c.12747G>A (p.Ser4249=)

SNV
Germline

Chr8:143917074

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4923989

rs_782377686

2 SubmittersRCV000648508 RCV002473094

NM_201384.3(PLEC):c.8742C>T (p.Phe2914=)

SNV
Germline

Chr8:143921079

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA4925200

rs_201211875

4 SubmittersRCV000727700 RCV001078944 RCV001662704

NM_058246.4(DNAJB6):c.938G>A (p.Arg313Lys)

SNV
Germline

Chr7:157416055

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4590678

rs_763185312

2 SubmittersRCV001405520 RCV003258908

NM_201384.3(PLEC):c.1760G>A (p.Arg587Gln)

SNV
Germline

Chr8:143932690

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided
Inborn genetic diseases
6 conditions

Criteria Provided
Conflicting Classifications

CA4927862

rs_200259757

4 SubmittersRCV000648457 RCV001288678 RCV002530502 RCV005392235

NM_201384.3(PLEC):c.11350C>T (p.Gln3784Ter)

SNV
Germline

Chr8:143918471

Likely pathogenic

Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Single Submitter

CA372491241

rs_1554675388

1 SubmittersRCV000648519

NM_201384.3(PLEC):c.7464G>A (p.Thr2488=)

SNV
Germline

Chr8:143922357

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925611

rs_560896222

2 SubmittersRCV001084597 RCV000731254

NM_201384.3(PLEC):c.7229C>T (p.Ala2410Val)

SNV
Germline

Chr8:143922700

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA4925721

rs_543422533

3 SubmittersRCV000648698 RCV001078748 RCV005900285

NM_201384.3(PLEC):c.13486G>A (p.Gly4496Ser)

SNV
Germline

Chr8:143916335

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4923784

rs_782618187

3 SubmittersRCV000648455 RCV000838665

NM_032237.5(POMK):c.1024A>G (p.Met342Val)

SNV
Germline

Chr8:43122848

Conflicting classifications of pathogenicity

Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4736396

rs_762404960

4 SubmittersRCV000651466 RCV003133464 RCV005268699

NM_201384.3(PLEC):c.7098G>T (p.Arg2366=)

SNV
Germline

Chr8:143922831

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4925760

rs_79489944

4 SubmittersRCV000727714 RCV001503615

NM_201384.3(PLEC):c.6262C>T (p.Arg2088Trp)

SNV
Germline

Chr8:143923667

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926062

rs_558683670

2 SubmittersRCV000648659 RCV003133459

NM_201384.3(PLEC):c.4800C>T (p.His1600=)

SNV
Germline

Chr8:143925129

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926534

rs_149044728

4 SubmittersRCV000648575 RCV000732228

NM_001077365.2(POMT1):c.30G>A (p.Val10=)

SNV
Germline

Chr9:131504248

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5293130

rs_201533471

2 SubmittersRCV001504124 RCV000732620

NM_032237.5(POMK):c.760G>A (p.Val254Met)

SNV
Germline

Chr8:43122584

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Limb-girdle muscular dystrophy due to POMK deficiency
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4736353

rs_34715198

4 SubmittersRCV000651464 RCV004800509 RCV001592820

NM_001077365.2(POMT1):c.605+1G>C

SNV
Germline

Chr9:131509809

Pathogenic/Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Multiple Submitters
No Conflicts

CA375307262

rs_766648827

3 SubmittersRCV000648156 RCV003459544 RCV005046833

NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys)

SNV
Germline

Chr9:131518502

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293658

rs_752384050

5 SubmittersRCV000648158 RCV000733057 RCV004594087 RCV004544878

NM_001077365.2(POMT1):c.426C>T (p.Ile142=)

SNV
Germline

Chr9:131507513

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5293259

rs_771390000

2 SubmittersRCV000648167 RCV000712825

NM_001077365.2(POMT1):c.927C>T (p.Asn309=)

SNV
Germline

Chr9:131511408

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Conflicting Classifications

CA375308551

rs_753694905

2 SubmittersRCV001166679 RCV002533345

NM_213599.3(ANO5):c.1120-1G>A

SNV
Germline

Chr11:22250950

Pathogenic/Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA5923150

rs_561719071

4 SubmittersRCV000645351 RCV000729498 RCV003117452 RCV006605288

NM_213599.3(ANO5):c.2117G>A (p.Arg706Gln)

SNV
Germline

Chr11:22272871

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
not specified
Miyoshi muscular dystrophy 3
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA218775842

rs_926233739

6 SubmittersRCV000645356 RCV000729727 RCV004586850 RCV005046830

NM_213599.3(ANO5):c.220C>T (p.Arg74Ter)

SNV
Germline

Chr11:22221136

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5922840

rs_749645231

3 SubmittersRCV000645355 RCV005860120 RCV006448503

NM_000231.3(SGCG):c.497G>A (p.Arg166Gln)

SNV
Germline

Chr13:23279470

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6909702

rs_776289036

4 SubmittersRCV000636846 RCV006252710

NM_013382.7(POMT2):c.648C>A (p.Cys216Ter)

SNV
Germline

Chr14:77302843

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Criteria Provided
Single Submitter

CA390520436

rs_147871747

1 SubmittersRCV000648174

NM_000070.3(CAPN3):c.1006T>G (p.Tyr336Asp)

SNV
Germline

Chr15:42392699

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA7511214

rs_745967703

2 SubmittersRCV000644987

NM_000070.3(CAPN3):c.1115+2T>A

SNV
Germline

Chr15:42394343

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391999103

rs_1057524468

1 SubmittersRCV000644977

NM_000070.3(CAPN3):c.1524+1G>A

SNV
Germline

Chr15:42401811

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA392000015

rs_1275289254

2 SubmittersRCV000644980 RCV003459540

NM_000070.3(CAPN3):c.1227A>C (p.Thr409=)

SNV
Germline

Chr15:42399525

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7511295

rs_111806046

3 SubmittersRCV001088795 RCV000732854 RCV005056372

NM_000023.4(SGCA):c.271G>T (p.Gly91Cys)

SNV
Germline

Chr17:50167695

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA291536150

rs_890921874

2 SubmittersRCV000648059

NM_000023.4(SGCA):c.49G>A (p.Gly17Arg)

SNV
Germline

Chr17:50167379

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8643683

rs_573792379

4 SubmittersRCV000648062 RCV001288754

NM_020964.3(EPG5):c.7495A>G (p.Met2499Val)

SNV
Germline

Chr18:45855635

Conflicting classifications of pathogenicity

Vici syndrome
Condition: not provided
EPG5-related disorder
Limb-girdle muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA8947976

rs_191244915

6 SubmittersRCV000642217 RCV001706694 RCV003918035 RCV005626129 RCV006452793

NM_001130823.3(DNMT1):c.3523+6C>T

SNV
Germline

Chr19:10140775

Conflicting classifications of pathogenicity

Hereditary sensory neuropathy-deafness-dementia syndrome
Condition: not provided
Inborn genetic diseases
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA9187738

rs_372240993

5 SubmittersRCV000649360 RCV001562443 RCV002334183 RCV005621991

NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)

SNV
Germline

Chr19:46756883

Pathogenic/Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA406497356

rs_1301397800

8 SubmittersRCV000634073 RCV000671168 RCV000731349 RCV003459515 RCV003488744 RCV005405215

NM_024301.5(FKRP):c.968G>A (p.Arg323His)

SNV
Germline

Chr19:46756418

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Conflicting Classifications

CA406496378

rs_1349031936

4 SubmittersRCV000634072 RCV000662004 RCV000662005 RCV001171504

NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter)

SNV
Germline

Chr2:71656236

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

No Assertion Criteria Provided

CA347219460

rs_770905160

1 SubmittersRCV000656078

NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)

SNV
Germline

Chr2:71551635

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA1705913

rs_200916654

6 SubmittersRCV000656079 RCV001089586 RCV001220606 RCV005027769

NM_013382.7(POMT2):c.1927G>C (p.Val643Leu)

SNV
Germline

Chr14:77278834

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA263817551

rs_966965226

3 SubmittersRCV000658347 RCV001855373 RCV004957977

NM_013382.7(POMT2):c.1627C>A (p.Leu543Met)

SNV
Germline

Chr14:77283823

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7285790

rs_367552151

3 SubmittersRCV000658417 RCV001065039 RCV004026031

NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu)

SNV
Germline

Chr15:42360096

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA391995269

rs_758058910

2 SubmittersRCV000660877 RCV004800511

NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly)

SNV
Germline

Chr15:42410645

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392001895

rs_768090444

1 SubmittersRCV000660878

NM_213599.3(ANO5):c.649-2A>G

SNV
Germline

Chr11:22236161

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA218741106

rs_773736505

3 SubmittersRCV000663413 RCV003767924 RCV005004320

NM_213599.3(ANO5):c.1261C>T (p.Gln421Ter)

SNV
Germline

Chr11:22255451

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379921533

rs_1554930314

1 SubmittersRCV000664069

NM_017739.4(POMGNT1):c.1895+1G>C

SNV
Germline

Chr1:46189457

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340170649

rs_386834024

2 SubmittersRCV002531334 RCV005430757

NM_017739.4(POMGNT1):c.1604+1G>A

SNV
Germline

Chr1:46190719

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340172288

rs_1553162873

2 SubmittersRCV001855497 RCV005430592

NM_017739.4(POMGNT1):c.880-1G>A

SNV
Germline

Chr1:46193926

Pathogenic/Likely pathogenic

Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
POMGNT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340182157

rs_1317832573

6 SubmittersRCV000667582 RCV001855483 RCV003230564 RCV003459586 RCV004723051

NM_017739.4(POMGNT1):c.1786-1G>A

SNV
Germline

Chr1:46189568

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340171125

rs_1457667479

2 SubmittersRCV003767958 RCV005430571

NM_017739.4(POMGNT1):c.1649+2T>G

SNV
Germline

Chr1:46190471

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA340171728

rs_1268759044

3 SubmittersRCV003459601 RCV003767967

NM_017739.4(POMGNT1):c.1605-1G>C

SNV
Germline

Chr1:46190518

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA340171852

rs_770219373

3 SubmittersRCV003465500 RCV003767988

NM_017739.4(POMGNT1):c.1152+2T>C

SNV
Germline

Chr1:46193172

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Condition: not provided
Gastric cancer
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA340179317

rs_1553163335

6 SubmittersRCV003465534 RCV004584792 RCV005901507 RCV005019164 RCV006556528

NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter)

SNV
Germline

Chr1:46189501

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340170853

rs_1553162663

2 SubmittersRCV002530722 RCV005430572

NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)

SNV
Germline

Chr1:46192124

Conflicting classifications of pathogenicity

Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinal dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA833345

rs_760705290

10 SubmittersRCV000668943 RCV001247989 RCV001731868 RCV001809739 RCV002531215 RCV003459603 RCV003889953 RCV005027798 RCV005409712

NM_017739.4(POMGNT1):c.794G>C (p.Arg265Pro)

SNV
Germline

Chr1:46194359

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA340183190

rs_386834010

3 SubmittersRCV005870757 RCV004702308 RCV005430818

NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter)

SNV
Germline

Chr1:46195887

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA21917575

rs_1048865247

3 SubmittersRCV001861750 RCV003465446

NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)

SNV
Germline

Chr1:46196047

Pathogenic/Likely pathogenic

Muscle eye brain disease
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA833756

rs_375431575

10 SubmittersRCV000674794 RCV001200334 RCV001244825 RCV001788317 RCV001810481 RCV002531361 RCV005019166

NM_017739.4(POMGNT1):c.653-2A>C

SNV
Germline

Chr1:46194653

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340184815

rs_1553163721

2 SubmittersRCV002532050 RCV005430433

NM_003494.4(DYSF):c.1A>G (p.Met1Val)

SNV
Unknown

Chr2:71453999

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

No Assertion Criteria Provided

CA347205786

rs_1259378167

1 SubmittersRCV000671280

NM_001130987.2(DYSF):c.460+1G>A

SNV
Germline

Chr2:71511922

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347205592

rs_1278864604

5 SubmittersRCV000665139 RCV000694014 RCV005027775

NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter)

SNV
Germline

Chr2:71513784

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347207027

rs_1553521017

4 SubmittersRCV000672170 RCV001855574 RCV003459635

NM_001130987.2(DYSF):c.952-2A>G

SNV
Germline

Chr2:71516987

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347210021

rs_1553522730

2 SubmittersRCV000672471 RCV002531316

NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)

SNV
Germline

Chr2:71539207

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347216767

rs_139258703

3 SubmittersRCV000669615 RCV002531232 RCV004568528

NM_001130987.2(DYSF):c.4221+1G>C

SNV
Germline

Chr2:71611627

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347228990

rs_1474151297

2 SubmittersRCV000671253 RCV002531273

NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)

SNV
Germline

Chr2:71656166

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Criteria Provided
Conflicting Classifications

CA1707097

rs_757820496

6 SubmittersRCV000696171 RCV001784229 RCV001810464 RCV003235334 RCV003459566

NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)

SNV
Germline

Chr2:71520871

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347212168

rs_766891289

7 SubmittersRCV000667055 RCV001058931 RCV001784244 RCV003465460 RCV005864522

NM_001130987.2(DYSF):c.1277-2A>C

SNV
Germline

Chr2:71528296

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347214357

rs_1553531682

3 SubmittersRCV000670531 RCV003574799 RCV004568538

NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter)

SNV
Germline

Chr2:71564196

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1706198

rs_199543257

3 SubmittersRCV000667000 RCV003574794 RCV004568505

NM_001130987.2(DYSF):c.2698-2A>G

SNV
Unknown

Chr2:71568170

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

No Assertion Criteria Provided

CA347214119

rs_1420930684

1 SubmittersRCV000672212

NM_001130987.2(DYSF):c.3897+1G>A

SNV
Germline

Chr2:71600843

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347225730

rs_1553376691

2 SubmittersRCV000674149 RCV001386682

NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)

SNV
Germline

Chr2:71611481

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Reviewed By Expert Panel

CA1706888

rs_757917335

12 SubmittersRCV000671892 RCV001247195 RCV001531487 RCV004568544 RCV004586866 RCV005027813

NM_001130987.2(DYSF):c.5785-1G>C

SNV
Germline

Chr2:71674196

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Lung cancer
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA1707512

rs_751473506

6 SubmittersRCV000665467 RCV000823836 RCV003465443 RCV005901440 RCV005034238

NM_001130987.2(DYSF):c.6174-2A>G

SNV
Unknown

Chr2:71682528

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

No Assertion Criteria Provided

CA347226927

rs_1451269647

1 SubmittersRCV000666947

NM_003494.4(DYSF):c.2T>C (p.Met1Thr)

SNV
Germline

Chr2:71454000

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347205795

rs_1459713589

3 SubmittersRCV000668555 RCV001377517

NM_001130987.2(DYSF):c.959A>T (p.Asp320Val)

SNV
Germline

Chr2:71516996

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347210094

rs_1553522751

5 SubmittersRCV000671651 RCV001244231 RCV003459630 RCV006257312 RCV006448564

NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)

SNV
Germline

Chr2:71520816

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1705600

rs_768546511

5 SubmittersRCV000666238 RCV001235470 RCV003465449 RCV006448561

NM_001130987.2(DYSF):c.1449+1G>A

SNV
Germline

Chr2:71535090

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Single Submitter

CA347215726

rs_1553535902

2 SubmittersRCV000670711 RCV005409713

NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter)

SNV
Germline

Chr2:71598644

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347223890

rs_1380642629

3 SubmittersRCV000673436 RCV003465528 RCV003574802

NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter)

SNV
Germline

Chr2:71611329

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA49778670

rs_778092738

3 SubmittersRCV000669562 RCV001089589 RCV001868234

NM_001130987.2(DYSF):c.4528-2A>G

SNV
Germline

Chr2:71643963

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347217740

rs_1213965862

4 SubmittersRCV000665741 RCV001256195 RCV001784234

NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)

SNV
Germline

Chr2:71664366

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
not specified
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707245

rs_143059463

6 SubmittersRCV000670528 RCV001247777 RCV001507566 RCV002271559 RCV002477502

NM_001130987.2(DYSF):c.5174+2T>C

SNV
Germline

Chr2:71664440

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347220710

rs_1553412826

3 SubmittersRCV000673134 RCV003574801 RCV003459640

NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter)

SNV
Germline

Chr2:71682607

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347227214

rs_1553422709

3 SubmittersRCV000666916 RCV003465457 RCV003767952

NM_001130987.2(DYSF):c.6252G>A (p.Trp2084Ter)

SNV
Unknown

Chr2:71682608

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

No Assertion Criteria Provided

CA347227220

rs_1553422723

1 SubmittersRCV000670348

NM_001130987.2(DYSF):c.240-1G>A

SNV
Unknown

Chr2:71503213

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

No Assertion Criteria Provided

CA347204071

rs_1553518087

1 SubmittersRCV000671668

NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu)

SNV
Germline

Chr2:71517029

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
not specified

Criteria Provided
Conflicting Classifications

CA347210280

rs_1258728780

4 SubmittersRCV000667928 RCV001067569 RCV002469246

NM_001130987.2(DYSF):c.1493+1G>A

SNV
Germline

Chr2:71535312

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347215841

rs_1553536007

2 SubmittersRCV000670424 RCV001061856

NM_001130987.2(DYSF):c.1577-2A>G

SNV
Germline

Chr2:71551039

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347217280

rs_1553542142

2 SubmittersRCV000667216 RCV003574795

NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)

SNV
Germline

Chr2:71570277

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA1706376

rs_750028300

5 SubmittersRCV000666237 RCV000763506 RCV003465448 RCV004689834 RCV005091928

NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter)

SNV
Germline

Chr2:71600804

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1706733

rs_763674597

4 SubmittersRCV000674515 RCV001784295 RCV001855610 RCV003459646

NM_001130987.2(DYSF):c.3957+2T>A

SNV
Unknown

Chr2:71602807

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

No Assertion Criteria Provided

CA347226680

rs_1553377764

1 SubmittersRCV000667027

NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser)

SNV
Germline

Chr2:71664414

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707259

rs_753279446

5 SubmittersRCV000668653 RCV002507163 RCV002532078 RCV003459599 RCV005401566

NM_001130987.2(DYSF):c.5457+1G>A

SNV
Unknown

Chr2:71667516

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

No Assertion Criteria Provided

CA347221548

rs_1553414413

1 SubmittersRCV000672671

NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys)

SNV
Germline

Chr2:71669122

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA347222104

rs_1280185461

5 SubmittersRCV000673454 RCV001141004 RCV006452825 RCV006556526

NM_001130987.2(DYSF):c.5784+1G>A

SNV
Germline

Chr2:71669747

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA49769333

rs_909564120

4 SubmittersRCV000669228 RCV003459608 RCV003736882

NM_001130987.2(DYSF):c.5885-1G>C

SNV
Germline

Chr2:71679056

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1707541

rs_771257070

4 SubmittersRCV000670990 RCV002532106 RCV003465504 RCV006252460

NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)

SNV
Germline

Chr2:71682669

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1707668

rs_746663568

7 SubmittersRCV000673203 RCV001035887 RCV003144473 RCV003465524 RCV005240445

NM_000232.5(SGCB):c.621+1G>T

SNV
Germline

Chr4:52028729

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA356876420

rs_1264362642

4 SubmittersRCV000669104

NM_000337.6(SGCD):c.192+1G>A

SNV
Germline

Chr5:156344678

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2F
Dilated cardiomyopathy 1L
Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Multiple Submitters
No Conflicts

CA362007893

rs_1267810339

3 SubmittersRCV000666012 RCV002530670

NM_000232.5(SGCB):c.334C>T (p.Gln112Ter)

SNV
Unknown

Chr4:52029773

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

No Assertion Criteria Provided

CA356877315

rs_1553940262

1 SubmittersRCV000671719

NM_000232.5(SGCB):c.499G>A (p.Gly167Ser)

SNV
Germline

Chr4:52028852

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA2918375

rs_779516489

4 SubmittersRCV000674583

NM_000232.5(SGCB):c.265G>A (p.Val89Met)

SNV
Germline

Chr4:52029842

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA2918446

rs_762652676

8 SubmittersRCV000666951 RCV002222588

NM_000232.5(SGCB):c.243+2T>G

SNV
Germline

Chr4:52033429

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Single Submitter

CA356877764

rs_1553940661

2 SubmittersRCV000669992

NM_000232.5(SGCB):c.243+1G>T

SNV
Germline

Chr4:52033430

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Single Submitter

CA356877767

rs_1553940663

2 SubmittersRCV000667723

NM_000232.5(SGCB):c.33+1G>A

SNV
Unknown

Chr4:52038226

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

No Assertion Criteria Provided

CA356878665

rs_1553940957

1 SubmittersRCV000665594

NM_000337.6(SGCD):c.69C>A (p.Tyr23Ter)

SNV
Unknown

Chr5:156344554

Likely pathogenic

Dilated cardiomyopathy 1L
Autosomal recessive limb-girdle muscular dystrophy type 2F

No Assertion Criteria Provided

CA362007631

rs_397517923

1 SubmittersRCV000669132

NM_000337.6(SGCD):c.699+1G>T

SNV
Unknown

Chr5:156757705

Likely pathogenic

Dilated cardiomyopathy 1L
Autosomal recessive limb-girdle muscular dystrophy type 2F

No Assertion Criteria Provided

CA362008769

rs_1554137130

1 SubmittersRCV000674428

NM_001079802.2(FKTN):c.557A>G (p.His186Arg)

SNV
Germline

Chr9:105604402

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Cardiovascular phenotype
not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X
Autosomal recessive limb-girdle muscular dystrophy type 2M

Criteria Provided
Conflicting Classifications

CA374332250

rs_1448279636

4 SubmittersRCV000670042 RCV004026112 RCV004702293 RCV005046885

NM_001079802.2(FKTN):c.370-2A>G

SNV
Germline

Chr9:105604213

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4

Criteria Provided
Single Submitter

CA374331850

rs_1554752805

2 SubmittersRCV000666909 RCV005049637

NM_000231.3(SGCG):c.186G>A (p.Trp62Ter)

SNV
Unknown

Chr13:23203880

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA387502883

rs_1555234810

2 SubmittersRCV000673395

NM_000231.3(SGCG):c.385+2T>A

SNV
Unknown

Chr13:23250719

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

No Assertion Criteria Provided

CA387501699

rs_200206447

1 SubmittersRCV000671286

NM_000231.3(SGCG):c.386-1G>A

SNV
Germline

Chr13:23279358

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA246649533

rs_913248720

4 SubmittersRCV000669493

NM_000231.3(SGCG):c.298-2A>C

SNV
Unknown

Chr13:23250628

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA387501515

rs_1555240119

2 SubmittersRCV000670718

NM_000231.3(SGCG):c.578+1G>C

SNV
Germline

Chr13:23295488

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA387504411

rs_1555245353

4 SubmittersRCV000669411

NM_000231.3(SGCG):c.702+1G>A

SNV
Unknown

Chr13:23320761

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA387502961

rs_1555248000

2 SubmittersRCV000671119

NM_000070.3(CAPN3):c.143G>A (p.Ser48Asn)

SNV
Germline

Chr15:42359948

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA7510862

rs_767281996

4 SubmittersRCV000664576 RCV005010647

NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)

SNV
Germline

Chr15:42387763

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA391997764

rs_1555420468

3 SubmittersRCV000673164

NM_000070.3(CAPN3):c.632+4A>G

SNV
Germline

Chr15:42387890

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA658824242

rs_1555420507

3 SubmittersRCV000665369 RCV003459570

NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)

SNV
Germline

Chr15:42388959

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA391998105

rs_1345121557

5 SubmittersRCV000672914 RCV001332162 RCV001784277 RCV002499184

NM_000070.3(CAPN3):c.1030-1G>A

SNV
Germline

Chr15:42394255

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA391998917

rs_1555421263

3 SubmittersRCV000672816

NM_000070.3(CAPN3):c.1354G>C (p.Asp452His)

SNV
Unknown

Chr15:42399652

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Single Submitter

CA391999647

rs_727503838

2 SubmittersRCV000668768 RCV003459600

NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly)

SNV
Germline

Chr15:42410633

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511776

rs_750083132

6 SubmittersRCV000670735 RCV001784265 RCV003330890 RCV003459619

NM_000070.3(CAPN3):c.848T>C (p.Met283Thr)

SNV
Germline

Chr15:42389999

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA391998519

rs_1555420765

6 SubmittersRCV000671506 RCV001731876 RCV003459626 RCV005630261

NM_000070.3(CAPN3):c.2330T>C (p.Ile777Thr)

SNV
Germline

Chr15:42410950

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Single Submitter

CA392002098

rs_1457098622

2 SubmittersRCV000668446 RCV005632600

NM_000070.3(CAPN3):c.1524+1G>T

SNV
Germline

Chr15:42401811

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392000017

rs_1275289254

2 SubmittersRCV000669957

NM_000070.3(CAPN3):c.149A>G (p.Asn50Ser)

SNV
Germline

Chr15:42359954

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA391994524

rs_1262587749

3 SubmittersRCV000670032 RCV005010661 RCV004586863

NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg)

SNV
Germline

Chr15:42392678

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA391998821

rs_1085307995

3 SubmittersRCV000669275 RCV003459611

NM_000070.3(CAPN3):c.1061T>G (p.Val354Gly)

SNV
Germline

Chr15:42394287

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA391998988

rs_1555421271

4 SubmittersRCV000673597 RCV004568557 RCV005630782 RCV006265196

NM_000070.3(CAPN3):c.1234G>T (p.Glu412Ter)

SNV
Unknown

Chr15:42399532

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

No Assertion Criteria Provided

CA391999400

rs_1555421847

1 SubmittersRCV000673275

NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly)

SNV
Germline

Chr15:42399640

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7511323

rs_776043976

5 SubmittersRCV000669159 RCV003472111 RCV005010657 RCV005630781

NM_000070.3(CAPN3):c.2007T>A (p.Cys669Ter)

SNV
Unknown

Chr15:42409801

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

No Assertion Criteria Provided

CA392001351

rs_1555423015

1 SubmittersRCV000672316

NM_000070.3(CAPN3):c.2050+1G>A

SNV
Germline

Chr15:42409845

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA7511671

rs_768374736

7 SubmittersRCV000669271 RCV001784257 RCV004526742 RCV005010658

NM_000070.3(CAPN3):c.2051-1G>C

SNV
Unknown

Chr15:42409930

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

No Assertion Criteria Provided

CA392001452

rs_886042108

1 SubmittersRCV000674040

NM_000070.3(CAPN3):c.2T>C (p.Met1Thr)

SNV
Unknown

Chr15:42359807

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

No Assertion Criteria Provided

CA391993753

rs_1555417257

1 SubmittersRCV000672743

NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)

SNV
Germline

Chr15:42389050

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA391998314

rs_1555420652

5 SubmittersRCV000671167 RCV001553721 RCV003140069

NM_000070.3(CAPN3):c.801+1G>A

SNV
Germline

Chr15:42389097

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA391998414

rs_1459288402

7 SubmittersRCV000668182 RCV001509478 RCV003459593

NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter)

SNV
Germline

Chr15:42394305

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA391999014

rs_1555421280

3 SubmittersRCV000665357 RCV000733826

NM_000070.3(CAPN3):c.1115+1G>A

SNV
Unknown

Chr15:42394342

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

No Assertion Criteria Provided

CA391999100

rs_1555421293

1 SubmittersRCV000674148

NM_000070.3(CAPN3):c.1156C>T (p.Arg386Cys)

SNV
Germline

Chr15:42396840

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA269841790

rs_919442493

3 SubmittersRCV000673176 RCV004568551

NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys)

SNV
Germline

Chr15:42399500

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511292

rs_371784007

6 SubmittersRCV000668931 RCV000728828 RCV002507166

NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys)

SNV
Germline

Chr15:42402914

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Abnormality of the musculature
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA7511458

rs_767739787

7 SubmittersRCV000668383 RCV001584540 RCV001814213 RCV003459596 RCV005010655

NM_000070.3(CAPN3):c.1858G>T (p.Glu620Ter)

SNV
Unknown

Chr15:42408268

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

No Assertion Criteria Provided

CA392000781

rs_1555422839

1 SubmittersRCV000674022

NM_000070.3(CAPN3):c.1914+2T>C

SNV
Germline

Chr15:42408326

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392000915

rs_1555422856

2 SubmittersRCV000667932

NM_000070.3(CAPN3):c.1948G>T (p.Glu650Ter)

SNV
Germline

Chr15:42409336

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Single Submitter

CA392001202

rs_777636094

2 SubmittersRCV000672598 RCV001784274

NM_000070.3(CAPN3):c.2115+1G>A

SNV
Germline

Chr15:42409996

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7511715

rs_766917640

5 SubmittersRCV000671447 RCV003472137 RCV004586865

NM_000070.3(CAPN3):c.2184+2T>C

SNV
Unknown

Chr15:42410498

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

No Assertion Criteria Provided

CA392001762

rs_1555423146

1 SubmittersRCV000674774

NM_000070.3(CAPN3):c.2380+1G>T

SNV
Germline

Chr15:42411001

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA392002218

rs_1555423222

3 SubmittersRCV000671146 RCV003472135

NM_000023.4(SGCA):c.748-2A>T

SNV
Germline

Chr17:50170141

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA400181238

rs_1412537279

3 SubmittersRCV000668485

NM_000023.4(SGCA):c.644C>T (p.Ser215Phe)

SNV
Germline

Chr17:50169151

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA400180597

rs_750844090

4 SubmittersRCV000666057

NM_000023.4(SGCA):c.949G>T (p.Glu317Ter)

SNV
Unknown

Chr17:50170344

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

No Assertion Criteria Provided

CA400182301

rs_1555569339

1 SubmittersRCV000672180

NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)

SNV
Germline

Chr17:50167422

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA291535993

rs_903823830

7 SubmittersRCV000665054

NM_000023.4(SGCA):c.585-2A>T

SNV
Unknown

Chr17:50169090

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

No Assertion Criteria Provided

CA400180244

rs_1555568965

1 SubmittersRCV000665422

NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)

SNV
Germline

Chr17:50175327

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA400184157

rs_763372958

3 SubmittersRCV000665388

NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)

SNV
Germline

Chr19:46755976

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Multiple Submitters
No Conflicts

CA406495500

rs_1555738502

3 SubmittersRCV000672053 RCV001868261 RCV003459634

NM_024301.5(FKRP):c.77G>A (p.Trp26Ter)

SNV
Germline

Chr19:46755527

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Condition: not provided

Criteria Provided
Single Submitter

CA406494618

rs_752731569

2 SubmittersRCV000671994 RCV000732483

NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)

SNV
Germline

Chr19:46756378

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Multiple Submitters
No Conflicts

CA9532212

rs_765885747

8 SubmittersRCV000665088 RCV000760366 RCV001055645 RCV002369793 RCV002499146 RCV003226352 RCV003465438

NM_024301.5(FKRP):c.214C>T (p.Gln72Ter)

SNV
Germline

Chr19:46755664

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA406494888

rs_1555738201

3 SubmittersRCV000671226 RCV003754883 RCV005639181

NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)

SNV
Germline

Chr19:46756228

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Multiple Submitters
No Conflicts

CA406495998

rs_1555738753

4 SubmittersRCV000669672 RCV002499167 RCV001855524 RCV003459613

NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter)

SNV
Germline

Chr19:46756477

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Condition: not provided
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA406496501

rs_587780334

3 SubmittersRCV000668106 RCV001554930 RCV002530737

NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)

SNV
Germline

Chr19:46756834

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA9532308

rs_768606230

8 SubmittersRCV000671396 RCV001573804 RCV003323674 RCV002531280 RCV005562429

NM_024301.5(FKRP):c.1418T>G (p.Phe473Cys)

SNV
Germline

Chr19:46756868

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9532317

rs_752243337

4 SubmittersRCV000664689 RCV002530634 RCV005411530 RCV006552662

NM_000023.4(SGCA):c.290A>G (p.Asp97Gly)

SNV
Unknown

Chr17:50167714

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

No Assertion Criteria Provided

CA400177882

rs_1555568396

1 SubmittersRCV000664601

NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)

SNV
Germline

Chr17:50167732

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA400177998

rs_1161291343

5 SubmittersRCV000671951

NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)

SNV
Germline

Chr17:50168397

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400179814

rs_372210292

11 SubmittersRCV000670049 RCV003155270 RCV003480755

NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)

SNV
Germline

Chr19:46755716

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA9532135

rs_770711331

7 SubmittersRCV000665956 RCV000700227 RCV001784236 RCV002499150 RCV004568497 RCV004993923

NM_024301.5(FKRP):c.502T>C (p.Cys168Arg)

SNV
Germline

Chr19:46755952

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
not specified

Criteria Provided
Conflicting Classifications

CA406495452

rs_1555738483

3 SubmittersRCV000673672 RCV003465529 RCV004586874

NM_024301.5(FKRP):c.1012G>T (p.Val338Leu)

SNV
Germline

Chr19:46756462

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Condition: not provided
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Multiple Submitters
No Conflicts

CA406496467

rs_1173430388

5 SubmittersRCV000669472 RCV001868232 RCV003488793 RCV005860123 RCV005870753

NM_024301.5(FKRP):c.931G>T (p.Glu311Ter)

SNV
Unknown

Chr19:46756381

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I

No Assertion Criteria Provided

CA406496307

rs_1483781400

1 SubmittersRCV000665682

NM_024301.5(FKRP):c.1016G>A (p.Arg339His)

SNV
Germline

Chr19:46756466

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2I
Condition: not provided
Cardiovascular phenotype
Walker-Warburg congenital muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA406496474

rs_1450841129

5 SubmittersRCV000674783 RCV000735132 RCV002343423 RCV002531360 RCV006268941

NM_021971.4(GMPPB):c.358A>G (p.Met120Val)

SNV
Germline

Chr3:49723016

Pathogenic

Elevated circulating creatine kinase concentration
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

CA352829578

rs_1559697515

2 SubmittersRCV000678462 RCV003104002

NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)

SNV
Germline

Chr7:16091697

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Conflicting Classifications

CA154724612

rs_186882839

4 SubmittersRCV000680013 RCV002544695 RCV003152727

NM_015602.4(TOR1AIP1):c.361G>A (p.Glu121Lys)

SNV
Germline

Chr1:179882863

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Y
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1268727

rs_199933063

2 SubmittersRCV000707137 RCV004588153

NM_017739.4(POMGNT1):c.1697T>C (p.Phe566Ser)

SNV
Germline

Chr1:46189942

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA833260

rs_765906814

3 SubmittersRCV000693960 RCV001277249 RCV005623359

NM_001161403.3(LIMS2):c.12-6748A>G

SNV
Germline

Chr2:127664310

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2W
not specified

Criteria Provided
Conflicting Classifications

CA55389810

rs_968524490

2 SubmittersRCV000692806 RCV005659953

NM_001267550.2(TTN):c.106531G>A (p.Ala35511Thr)

SNV
Germline

Chr2:178529960

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985094

rs_768786354

3 SubmittersRCV000692362 RCV002422499 RCV005632633

NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter)

SNV
Germline

Chr2:178564409

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related myopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349578454

rs_769821404

3 SubmittersRCV000700627 RCV002533595 RCV004026518

NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val)

SNV
Germline

Chr2:178564882

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1989234

rs_371498697

4 SubmittersRCV000689623 RCV000734994 RCV002265860

NM_001267550.2(TTN):c.104771C>A (p.Ser34924Ter)

SNV
Germline

Chr2:178531844

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349410960

rs_1559003939

2 SubmittersRCV000706582 RCV001375607

NM_001267550.2(TTN):c.102191C>T (p.Ala34064Val)

SNV
Germline

Chr2:178534424

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA60959410

rs_149921607

5 SubmittersRCV000694038 RCV001574407 RCV002388252 RCV005240480

NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter)

SNV
Germline

Chr2:178604269

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA1993628

rs_747236787

6 SubmittersRCV000703169 RCV001560483 RCV002424697 RCV003336156 RCV004764937

NM_001267550.2(TTN):c.53287+1G>A

SNV
Germline

Chr2:178607400

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA349565478

rs_1064794266

2 SubmittersRCV000702993 RCV000825481

NM_001267550.2(TTN):c.90195T>A (p.Tyr30065Ter)

SNV
Germline

Chr2:178552705

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60977857

rs_920201335

1 SubmittersRCV000705861

NM_001267550.2(TTN):c.52512C>G (p.Tyr17504Ter)

SNV
Germline

Chr2:178608371

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349573283

rs_1559748120

1 SubmittersRCV000686946

NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln)

SNV
Germline

Chr2:178560816

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988662

rs_764437671

6 SubmittersRCV000692384 RCV003330904 RCV001288137 RCV002352142

NM_001267550.2(TTN):c.44323G>A (p.Val14775Met)

SNV
Germline

Chr2:178629402

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995675

rs_540115992

7 SubmittersRCV000694203 RCV000756842 RCV002397410

NM_001267550.2(TTN):c.79298G>A (p.Trp26433Ter)

SNV
Germline

Chr2:178566834

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349598018

rs_1559355268

1 SubmittersRCV000698437

NM_001267550.2(TTN):c.40409-2A>C

SNV
Germline

Chr2:178644618

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349438470

rs_1560046529

1 SubmittersRCV000700267

NM_001267550.2(TTN):c.27329-1G>T

SNV
Germline

Chr2:178712594

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349454177

rs_1378646156

2 SubmittersRCV000699169 RCV004696980

NM_001267550.2(TTN):c.64352T>A (p.Leu21451Ter)

SNV
Germline

Chr2:178586549

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1991920

rs_777425925

2 SubmittersRCV000703467 RCV003130016

NM_001267550.2(TTN):c.64111A>G (p.Arg21371Gly)

SNV
Germline

Chr2:178586790

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA60963511

rs_748901968

4 SubmittersRCV000693779 RCV001133596 RCV001133597 RCV001133598 RCV001133594 RCV001133595 RCV003140100 RCV005405271

NM_001267550.2(TTN):c.15218-2A>G

SNV
Germline

Chr2:178734608

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60981489

rs_1004898711

1 SubmittersRCV000704683

NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)

SNV
Germline

Chr2:178592056

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349489453

rs_1559598775

6 SubmittersRCV000697657 RCV000850349 RCV002325400 RCV004760728 RCV004792399 RCV005223127

NM_001267550.2(TTN):c.56257C>T (p.Gln18753Ter)

SNV
Germline

Chr2:178599644

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349533663

rs_1559669986

3 SubmittersRCV000687895 RCV003432730 RCV005502874

NM_001267550.2(TTN):c.55153C>T (p.Gln18385Ter)

SNV
Germline

Chr2:178602118

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349544197

rs_1559696193

1 SubmittersRCV000703571

NM_001267550.2(TTN):c.51843G>A (p.Trp17281Ter)

SNV
Germline

Chr2:178609467

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349579792

rs_1559759828

1 SubmittersRCV000687274

NM_001267550.2(TTN):c.39895G>T (p.Glu13299Ter)

SNV
Germline

Chr2:178649817

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996566

rs_758166967

2 SubmittersRCV000698813 RCV002223918

NM_001267550.2(TTN):c.32555-2A>C

SNV
Germline

Chr2:178684751

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA1998599

rs_781581062

4 SubmittersRCV000694879 RCV000734886 RCV002485680

NM_001267550.2(TTN):c.16621+1G>T

SNV
Germline

Chr2:178732439

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002009

rs_761965693

2 SubmittersRCV000702953 RCV005411547

NM_001267550.2(TTN):c.1039C>T (p.Gln347Ter)

SNV
Germline

Chr2:178795128

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349518911

rs_1561470471

1 SubmittersRCV000706321

NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp)

SNV
Germline

Chr2:71564154

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706189

rs_749002214

4 SubmittersRCV000690013 RCV000997160 RCV001825341

NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln)

SNV
Germline

Chr2:71665254

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA49767324

rs_957111625

5 SubmittersRCV000695255 RCV001274106 RCV002493198 RCV003163191 RCV005641783

NM_001267550.2(TTN):c.103945C>T (p.Arg34649Ter)

SNV
Germline

Chr2:178532670

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349412882

rs_995029896

2 SubmittersRCV000691303 RCV006270420

NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter)

SNV
Germline

Chr2:178534887

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349419783

rs_943777958

2 SubmittersRCV000703837 RCV002386262

NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter)

SNV
Germline

Chr2:178609301

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349578190

rs_1343120755

4 SubmittersRCV000706544 RCV002424719 RCV005253088 RCV004719969

NM_001267550.2(TTN):c.45535A>T (p.Lys15179Ter)

SNV
Germline

Chr2:178621183

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349633707

rs_1559877046

2 SubmittersRCV000706720 RCV000852524

NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter)

SNV
Germline

Chr2:178630923

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1995766

rs_776970935

4 SubmittersRCV000692897 RCV002406576 RCV003486918 RCV005645155

NM_001267550.2(TTN):c.42108C>G (p.Tyr14036Ter)

SNV
Germline

Chr2:178634766

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349655875

rs_1311474144

1 SubmittersRCV000694663

NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter)

SNV
Germline

Chr2:178665777

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA349505679

rs_1266298136

5 SubmittersRCV000685825 RCV002223904 RCV002493142 RCV004535706

NM_001267550.2(TTN):c.12704C>A (p.Ser4235Ter)

SNV
Germline

Chr2:178740529

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349610806

rs_1253161767

1 SubmittersRCV000690185

NM_001267550.2(TTN):c.12358C>T (p.Gln4120Ter)

SNV
Germline

Chr2:178740875

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA2002729

rs_746184552

1 SubmittersRCV000690826

NM_021971.4(GMPPB):c.1070G>A (p.Arg357His)

SNV
Germline

Chr3:49721765

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2405355

rs_771861177

2 SubmittersRCV000705475 RCV004719967

NM_021971.4(GMPPB):c.955C>T (p.Arg319Cys)

SNV
Germline

Chr3:49721880

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

CA2405377

rs_780867515

1 SubmittersRCV000690678

NM_021971.4(GMPPB):c.953T>C (p.Val318Ala)

SNV
Germline

Chr3:49721882

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2405379

rs_559784211

4 SubmittersRCV000691392 RCV003140092 RCV003128645

NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr)

SNV
Germline

Chr3:49722343

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Abnormality of the musculature
GMPPB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2405474

rs_761714818

7 SubmittersRCV000698360 RCV001784331 RCV001542746 RCV001814219 RCV004547864

NM_001267550.2(TTN):c.89503+1G>C

SNV
Germline

Chr2:178553501

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349518134

rs_1559218619

1 SubmittersRCV000705661

NM_001267550.2(TTN):c.82070C>G (p.Thr27357Arg)

SNV
Germline

Chr2:178564062

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989121

rs_754175266

3 SubmittersRCV000687721 RCV001131502 RCV001131504 RCV001131503 RCV001131500 RCV001131501 RCV001289396

NM_001267550.2(TTN):c.78634A>T (p.Arg26212Ter)

SNV
Germline

Chr2:178567498

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349601823

rs_1559362000

1 SubmittersRCV000694614

NM_001267550.2(TTN):c.76967A>G (p.His25656Arg)

SNV
Germline

Chr2:178569165

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989841

rs_755172663

2 SubmittersRCV000697933 RCV002334337

NM_001267550.2(TTN):c.59926+1G>A

SNV
Germline

Chr2:178591977

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Cardiomyopathy
TTN-related disorder
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA60970255

rs_553526525

12 SubmittersRCV000696084 RCV001528301 RCV001594401 RCV003486921 RCV004735753 RCV004026362

NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter)

SNV
Germline

Chr2:178601337

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Multiple Submitters
No Conflicts

CA349538603

rs_1483931960

8 SubmittersRCV000700102 RCV002223920 RCV002440503 RCV002477607 RCV003237351 RCV003227836

NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter)

SNV
Germline

Chr2:178609774

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349583499

rs_1060500503

4 SubmittersRCV000695631 RCV002223915 RCV002493201

NM_001267550.2(TTN):c.49345+2T>C

SNV
Germline

Chr2:178614050

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349605138

rs_1559805633

2 SubmittersRCV000698753 RCV006342495

NM_001267550.2(TTN):c.32555-1G>A

SNV
Germline

Chr2:178684750

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60985257

rs_932486601

1 SubmittersRCV000696272

NM_001267550.2(TTN):c.15497-2A>G

SNV
Germline

Chr2:178733894

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA349593557

rs_1232334931

3 SubmittersRCV000695112 RCV002223914 RCV002493196

NM_001267550.2(TTN):c.7501C>T (p.Arg2501Ter)

SNV
Germline

Chr2:178773555

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA2004802

rs_781459488

2 SubmittersRCV000701241 RCV004026547

NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter)

SNV
Germline

Chr2:178773558

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA349680106

rs_1561253718

3 SubmittersRCV000703270 RCV002386259 RCV002485742

NM_001267550.2(TTN):c.2371-1G>A

SNV
Germline

Chr2:178785743

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiovascular phenotype
Condition: not provided
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA2005833

rs_755365744

5 SubmittersRCV000706742 RCV000765594 RCV002422611 RCV003141709 RCV006265236

NM_021942.6(TRAPPC11):c.2530C>A (p.Arg844Ser)

SNV
Germline

Chr4:183694625

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type R18
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3152223

rs_149626892

4 SubmittersRCV000693950 RCV004588121 RCV005762079

NM_000337.6(SGCD):c.4-1G>T

SNV
Germline

Chr5:156344488

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2F
Dilated cardiomyopathy 1L

Criteria Provided
Multiple Submitters
No Conflicts

CA362007487

rs_1554094927

2 SubmittersRCV000707487 RCV003472252

NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=)

SNV
Germline

Chr2:71612775

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706973

rs_368451006

3 SubmittersRCV000690467 RCV001274839

NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr3:49722126

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

CA2405433

rs_763971677

1 SubmittersRCV000692931

NM_001101426.4(CRPPA):c.835+2T>C

SNV
Germline

Chr7:16301419

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4169486

rs_773325665

2 SubmittersRCV000706360 RCV001563487

NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu)

SNV
Germline

Chr2:71549377

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705842

rs_144931729

4 SubmittersRCV000706854 RCV000711549 RCV001271777 RCV002534470

NM_001130987.2(DYSF):c.3836C>T (p.Thr1279Met)

SNV
Germline

Chr2:71600781

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706720

rs_202013788

4 SubmittersRCV000707469 RCV001830568 RCV003144573 RCV005821765

NM_021942.6(TRAPPC11):c.660+3G>A

SNV
Germline

Chr4:183674815

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type R18
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3151643

rs_377549138

3 SubmittersRCV000705918 RCV001546854

NM_201384.3(PLEC):c.5527G>A (p.Gly1843Ser)

SNV
Germline

Chr8:143924402

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926336

rs_781804005

3 SubmittersRCV000687438 RCV003243250 RCV005051816

NM_021971.4(GMPPB):c.525G>T (p.Met175Ile)

SNV
Germline

Chr3:49722632

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2405533

rs_147966522

4 SubmittersRCV000693068 RCV000729679 RCV005851589

NM_021971.4(GMPPB):c.402+1G>A

SNV
Germline

Chr3:49722971

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Multiple Submitters
No Conflicts

CA74542195

rs_145564018

2 SubmittersRCV000690893 RCV005901662

NM_001077365.2(POMT1):c.1272+2T>C

SNV
Germline

Chr9:131515524

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Myopathy caused by variation in POMT1

Criteria Provided
Multiple Submitters
No Conflicts

CA375310225

rs_1564365317

2 SubmittersRCV000703521 RCV006257315

NM_001101426.4(CRPPA):c.614G>A (p.Arg205His)

SNV
Germline

Chr7:16376162

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
Condition: not provided

Criteria Provided
Conflicting Classifications

CA154760501

rs_566179705

2 SubmittersRCV000706667 RCV001592911

NM_213599.3(ANO5):c.1332G>A (p.Lys444=)

SNV
Germline

Chr11:22255522

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5923197

rs_550454492

3 SubmittersRCV000704335 RCV005639189 RCV006265234

NM_201384.3(PLEC):c.13240C>T (p.Arg4414Cys)

SNV
Germline

Chr8:143916581

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4923874

rs_200447944

5 SubmittersRCV000688285 RCV001756168

NM_201384.3(PLEC):c.8227G>A (p.Val2743Met)

SNV
Germline

Chr8:143921594

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925391

rs_781889659

2 SubmittersRCV000705332 RCV000999088

NM_001077365.2(POMT1):c.987-2A>C

SNV
Germline

Chr9:131512039

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA375308733

rs_1453773610

1 SubmittersRCV000704477

NM_213599.3(ANO5):c.53A>G (p.Asn18Ser)

SNV
Germline

Chr11:22203816

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Inborn genetic diseases
ANO5-related disorder

Criteria Provided
Conflicting Classifications

CA218763370

rs_1010958758

3 SubmittersRCV000707462 RCV002532874 RCV004535757

NM_213599.3(ANO5):c.295-1G>A

SNV
Germline

Chr11:22225983

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA5922880

rs_780109230

1 SubmittersRCV000690282

NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met)

SNV
Germline

Chr8:143920072

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924866

rs_201349099

6 SubmittersRCV000689349 RCV000712768 RCV002547138

NM_201384.3(PLEC):c.3287G>A (p.Arg1096His)

SNV
Germline

Chr8:143927966

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4927135

rs_375617818

5 SubmittersRCV000694498 RCV000727824 RCV002532268

NM_201384.3(PLEC):c.3261-1G>A

SNV
Germline

Chr8:143927993

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Single Submitter

CA187618261

rs_111730406

1 SubmittersRCV000700614

NM_013382.7(POMT2):c.248+1G>C

SNV
Germline

Chr14:77320433

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Multiple Submitters
No Conflicts

CA263794804

rs_961440747

2 SubmittersRCV000702634 RCV003472239

NM_000070.3(CAPN3):c.2465G>T (p.Ter822Leu)

SNV
Germline

Chr15:42411772

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA392002426

rs_1162942997

2 SubmittersRCV000692092 RCV003472206

NM_000023.4(SGCA):c.221G>A (p.Arg74Gln)

SNV
Germline

Chr17:50167645

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643736

rs_779439298

3 SubmittersRCV000702946

NM_000023.4(SGCA):c.292C>G (p.Arg98Gly)

SNV
Germline

Chr17:50167716

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400177902

rs_138945081

1 SubmittersRCV000705659

NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser)

SNV
Germline

Chr19:46756813

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9532302

rs_747785577

5 SubmittersRCV000700840 RCV001825376 RCV002386242 RCV002485723 RCV003222112

NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)

SNV
Germline

Chr17:50167610

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA8643729

rs_766400853

3 SubmittersRCV000706234

NM_000023.4(SGCA):c.585-2A>C

SNV
Germline

Chr17:50169090

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400180236

rs_1555568965

1 SubmittersRCV000695383

NM_001267550.2(TTN):c.68632G>A (p.Val22878Met)

SNV
Germline

Chr2:178577794

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1991062

rs_764263517

4 SubmittersRCV000714079 RCV001134115 RCV001134116 RCV001135614 RCV001135615 RCV001135613 RCV002332524 RCV005405280

NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met)

SNV
Germline

Chr2:71568218

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA1706275

rs_769739410

7 SubmittersRCV000711553 RCV001048828 RCV001830577 RCV002532913 RCV003330916

NM_001130987.2(DYSF):c.2821G>A (p.Gly941Ser)

SNV
Germline

Chr2:71568295

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1706290

rs_747089235

4 SubmittersRCV000711555 RCV001825419 RCV006629191

NM_001130987.2(DYSF):c.4060-7T>A

SNV
Germline

Chr2:71611458

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706885

rs_753614306

4 SubmittersRCV000711559 RCV000815486 RCV001271532

NM_000232.5(SGCB):c.204G>T (p.Val68=)

SNV
Germline

Chr4:52033470

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA439274706

rs_1560568801

2 SubmittersRCV000713239 RCV001422138

NM_201384.3(PLEC):c.3501C>T (p.His1167=)

SNV
Germline

Chr8:143927665

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
not specified

Criteria Provided
Conflicting Classifications

CA4927039

rs_782038506

3 SubmittersRCV000712735 RCV001516909 RCV006436887

NM_201384.3(PLEC):c.2829G>A (p.Ala943=)

SNV
Germline

Chr8:143929740

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927331

rs_369370495

4 SubmittersRCV000712731 RCV001087409 RCV004535768

NM_201384.3(PLEC):c.2416C>T (p.Arg806Cys)

SNV
Germline

Chr8:143930425

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4927546

rs_372400636

5 SubmittersRCV000712727 RCV001337381 RCV004649296

NM_001267550.2(TTN):c.70876G>T (p.Glu23626Ter)

SNV
Germline

Chr2:178575256

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349660551

rs_1559446852

1 SubmittersRCV000714863

NM_201384.3(PLEC):c.10208G>A (p.Arg3403Gln)

SNV
Germline

Chr8:143919613

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924724

rs_369621159

3 SubmittersRCV000727848 RCV001089260

NM_201384.3(PLEC):c.11823C>T (p.Asp3941=)

SNV
Germline

Chr8:143917998

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4924240

rs_201426199

3 SubmittersRCV000727697 RCV002067079 RCV004737979

NM_001267550.2(TTN):c.95541T>G (p.Arg31847=)

SNV
Germline

Chr2:178545569

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1986936

rs_749477738

5 SubmittersRCV000727703 RCV001089080 RCV002360849 RCV005405281

NM_201384.3(PLEC):c.477G>A (p.Thr159=)

SNV
Germline

Chr8:143935973

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4928422

rs_372111720

2 SubmittersRCV000727704 RCV001399700

NM_201384.3(PLEC):c.3354G>A (p.Val1118=)

SNV
Germline

Chr8:143927899

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4927117

rs_375657597

3 SubmittersRCV000727738 RCV001087140 RCV004737980

NM_001267550.2(TTN):c.85746A>C (p.Ile28582=)

SNV
Germline

Chr2:178560386

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988593

rs_771116739

4 SubmittersRCV000727751 RCV001429953 RCV002352237

NM_201384.3(PLEC):c.12861G>A (p.Glu4287=)

SNV
Germline

Chr8:143916960

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4923964

rs_781934861

2 SubmittersRCV000727757 RCV002060963

NM_201384.3(PLEC):c.12711G>A (p.Ser4237=)

SNV
Germline

Chr8:143917110

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924002

rs_548342396

3 SubmittersRCV000727766 RCV001402775

NM_201384.3(PLEC):c.8391C>T (p.Ile2797=)

SNV
Germline

Chr8:143921430

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4925334

rs_200289312

2 SubmittersRCV000727767 RCV001084385

NM_201384.3(PLEC):c.3955C>T (p.Leu1319=)

SNV
Germline

Chr8:143926873

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926830

rs_201416081

4 SubmittersRCV000727770 RCV001085171 RCV004535810

NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val)

SNV
Germline

Chr8:143923867

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
PLEC-related disorder
not specified
Gastric cancer

Criteria Provided
Conflicting Classifications

CA4926124

rs_367715805

8 SubmittersRCV000727786 RCV001087798 RCV004540030 RCV004997254 RCV005901872

NM_001267550.2(TTN):c.46221C>T (p.Asp15407=)

SNV
Germline

Chr2:178620300

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995285

rs_370808856

4 SubmittersRCV000727809 RCV001482250 RCV002406658

NM_201384.3(PLEC):c.9593G>A (p.Arg3198Gln)

SNV
Germline

Chr8:143920228

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924919

rs_559417477

3 SubmittersRCV000727815 RCV001868927 RCV002535049

NM_001267550.2(TTN):c.64238A>G (p.Asp21413Gly)

SNV
Germline

Chr2:178586663

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1991931

rs_375659466

7 SubmittersRCV000727834 RCV000769977 RCV001134971 RCV001134973 RCV001002278 RCV001133468 RCV001134972 RCV001134974

NM_201384.3(PLEC):c.2391C>T (p.Arg797=)

SNV
Germline

Chr8:143930450

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4927551

rs_782701313

2 SubmittersRCV000727838 RCV001437160

NM_001267550.2(TTN):c.60786T>C (p.Pro20262=)

SNV
Germline

Chr2:178590939

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA430266263

rs_1217782958

5 SubmittersRCV000727852 RCV001393936 RCV002325444 RCV004540032

NM_201384.3(PLEC):c.3369G>A (p.Pro1123=)

SNV
Germline

Chr8:143927884

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4927107

rs_371882486

3 SubmittersRCV000727855 RCV001089261

NM_201384.3(PLEC):c.8523C>T (p.Arg2841=)

SNV
Germline

Chr8:143921298

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA463531580

rs_1366130220

2 SubmittersRCV000727864 RCV002060964

NM_004393.6(DAG1):c.552G>C (p.Ala184=)

SNV
Germline

Chr3:49531063

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P

Criteria Provided
Conflicting Classifications

CA433838954

rs_749602970

2 SubmittersRCV000727945 RCV001502161

NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)

SNV
Germline

Chr2:178531192

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA1985263

rs_534484592

6 SubmittersRCV000727952 RCV001004967 RCV002499341 RCV005772027 RCV005223148

NM_001267550.2(TTN):c.18028+1G>A

SNV
Germline

Chr2:178730504

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349567589

rs_1560786548

2 SubmittersRCV000727956 RCV000804731

NM_201384.3(PLEC):c.2425C>T (p.Leu809=)

SNV
Germline

Chr8:143930416

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4927541

rs_771803576

2 SubmittersRCV000727965 RCV002067081

NM_201384.3(PLEC):c.1002C>T (p.Ala334=)

SNV
Germline

Chr8:143934674

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928221

rs_370574829

4 SubmittersRCV000727967 RCV001078546 RCV004535811

NM_001267550.2(TTN):c.23091A>G (p.Thr7697=)

SNV
Germline

Chr2:178720928

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA430287402

rs_1198504900

4 SubmittersRCV000728114 RCV001409022 RCV004997255

NM_000070.3(CAPN3):c.897C>A (p.Leu299=)

SNV
Germline

Chr15:42390048

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511160

rs_370313391

4 SubmittersRCV000728177 RCV001080817

NM_012470.4(TNPO3):c.1359-5C>T

SNV
Germline

Chr7:128990105

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4478146

rs_757673014

2 SubmittersRCV000728215 RCV001465926

NM_058246.4(DNAJB6):c.438A>C (p.Gly146=)

SNV
Germline

Chr7:157382337

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA4590518

rs_112310856

2 SubmittersRCV000728220 RCV001460486

NM_201384.3(PLEC):c.13005C>T (p.Ala4335=)

SNV
Germline

Chr8:143916816

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4923925

rs_757589473

2 SubmittersRCV000728221 RCV001084185

NM_001267550.2(TTN):c.46590A>G (p.Glu15530=)

SNV
Germline

Chr2:178619727

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430111677

rs_1559861805

2 SubmittersRCV000728222 RCV001467692

NM_012470.4(TNPO3):c.2306G>A (p.Arg769Gln)

SNV
Germline

Chr7:128972550

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4477894

rs_772598470

2 SubmittersRCV000728304 RCV002067084

NM_058246.4(DNAJB6):c.342C>A (p.Phe114Leu)

SNV
Germline

Chr7:157367479

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
DNAJB6-related disorder

Criteria Provided
Conflicting Classifications

CA4590459

rs_373354100

3 SubmittersRCV000728340 RCV001084943 RCV003980362

NM_000070.3(CAPN3):c.1993-5C>T

SNV
Germline

Chr15:42409782

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA913190706

rs_1566984719

2 SubmittersRCV000728471 RCV001488963

NM_001077365.2(POMT1):c.123-6T>C

SNV
Germline

Chr9:131506108

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA5293166

rs_201486083

2 SubmittersRCV000728533 RCV001407774

NM_201384.3(PLEC):c.3786C>T (p.Gly1262=)

SNV
Germline

Chr8:143927306

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA4926929

rs_547206059

3 SubmittersRCV000728535 RCV001862150 RCV005901878

NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr)

SNV
Germline

Chr8:143918806

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924460

rs_782767733

6 SubmittersRCV000728683 RCV000820453 RCV005392331

NM_201384.3(PLEC):c.11721G>A (p.Thr3907=)

SNV
Germline

Chr8:143918100

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
PLEC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4924262

rs_371520192

4 SubmittersRCV000728686 RCV001082484 RCV004535814 RCV005407921

NM_001077365.2(POMT1):c.2061G>A (p.Ala687=)

SNV
Germline

Chr9:131522989

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
POMT1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5293925

rs_200916353

4 SubmittersRCV000728764 RCV001506219 RCV004540038 RCV004997256

NM_001267550.2(TTN):c.66726C>T (p.Asp22242=)

SNV
Germline

Chr2:178581542

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60958640

rs_879057314

2 SubmittersRCV000728840 RCV002060972

NM_213599.3(ANO5):c.2481T>C (p.His827=)

SNV
Germline

Chr11:22276160

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA5923594

rs_750804063

2 SubmittersRCV000729046 RCV002535104

NM_001077365.2(POMT1):c.699+67G>A

SNV
Germline

Chr9:131510063

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
POMT1-related disorder

Criteria Provided
Conflicting Classifications

CA5293387

rs_776061161

5 SubmittersRCV000729095 RCV001379440 RCV002282347 RCV003465659 RCV005223149

NM_201384.3(PLEC):c.6987G>A (p.Ala2329=)

SNV
Germline

Chr8:143922942

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4925790

rs_372832025

2 SubmittersRCV000729152 RCV001462163

NM_201384.3(PLEC):c.7833C>T (p.His2611=)

SNV
Germline

Chr8:143921988

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4925505

rs_782175030

2 SubmittersRCV000729154 RCV001087473

NM_001267550.2(TTN):c.22545C>G (p.Pro7515=)

SNV
Germline

Chr2:178722118

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA2000810

rs_373496180

3 SubmittersRCV000729156 RCV001088934 RCV005405283

NM_213599.3(ANO5):c.2273G>A (p.Arg758His)

SNV
Germline

Chr11:22274606

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA5923514

rs_369058382

3 SubmittersRCV000729228 RCV001224031

NM_001130987.2(DYSF):c.6312C>T (p.Tyr2104=)

SNV
Germline

Chr2:71682668

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707667

rs_549673939

3 SubmittersRCV000729231 RCV001087446 RCV001276876

NM_201384.3(PLEC):c.10323G>A (p.Ser3441=)

SNV
Germline

Chr8:143919498

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924685

rs_368108311

2 SubmittersRCV000729256 RCV005213375

NM_000232.5(SGCB):c.12G>C (p.Ala4=)

SNV
Germline

Chr4:52038248

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA439274999

rs_758245081

2 SubmittersRCV000729297 RCV002060975

NM_201384.3(PLEC):c.13212C>T (p.Gly4404=)

SNV
Germline

Chr8:143916609

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4923882

rs_376387058

2 SubmittersRCV000729300 RCV001458308

NM_001267550.2(TTN):c.30357G>A (p.Glu10119=)

SNV
Germline

Chr2:178702530

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430279239

rs_1560501974

2 SubmittersRCV000729328 RCV002535116

NM_001101426.4(CRPPA):c.7G>C (p.Ala3Pro)

SNV
Germline

Chr7:16421316

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
not specified

Criteria Provided
Conflicting Classifications

CA367004609

rs_794726893

3 SubmittersRCV000729329 RCV002233735 RCV005809331

NM_001267550.2(TTN):c.43068G>A (p.Gln14356=)

SNV
Germline

Chr2:178633205

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1995958

rs_758915068

2 SubmittersRCV000729330 RCV003768187

NM_001267550.2(TTN):c.70044C>T (p.Ala23348=)

SNV
Germline

Chr2:178576088

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990846

rs_771534964

3 SubmittersRCV000729332 RCV002536429 RCV003165962

NM_001267550.2(TTN):c.24108G>A (p.Ser8036=)

SNV
Germline

Chr2:178719282

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000500

rs_752974196

2 SubmittersRCV000729418 RCV001487044

NM_001130987.2(DYSF):c.4712C>T (p.Thr1571Met)

SNV
Germline

Chr2:71656247

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707110

rs_144422408

4 SubmittersRCV000729424 RCV001243182 RCV001825453

NM_001267550.2(TTN):c.99840T>C (p.Asp33280=)

SNV
Germline

Chr2:178537367

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1986134

rs_375178211

5 SubmittersRCV000729427 RCV001087404 RCV002386293 RCV006268981

NM_001267550.2(TTN):c.2052A>G (p.Glu684=)

SNV
Germline

Chr2:178789384

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430112552

rs_1379431768

2 SubmittersRCV000729496 RCV006556587

NM_001267550.2(TTN):c.107832G>A (p.Arg35944=)

SNV
Germline

Chr2:178527156

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1984868

rs_759154562

3 SubmittersRCV000729538 RCV002060977 RCV002422626

NM_001267550.2(TTN):c.62097A>G (p.Pro20699=)

SNV
Germline

Chr2:178589628

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1992271

rs_774995592

6 SubmittersRCV000729637 RCV001438477

NM_201384.3(PLEC):c.9219C>T (p.Ser3073=)

SNV
Germline

Chr8:143920602

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA187611141

rs_373397279

2 SubmittersRCV000729639 RCV001485713

NM_001267550.2(TTN):c.18669G>A (p.Thr6223=)

SNV
Germline

Chr2:178729487

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA2001564

rs_772600691

5 SubmittersRCV000729688 RCV001079486 RCV001129859 RCV001134871 RCV001134873 RCV001134870 RCV001134872 RCV001701436

NM_001267550.2(TTN):c.82732A>T (p.Lys27578Ter)

SNV
Germline

Chr2:178563400

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349571891

rs_368850871

2 SubmittersRCV000729689 RCV003768190

NM_001267550.2(TTN):c.85275T>C (p.Thr28425=)

SNV
Germline

Chr2:178560857

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1988671

rs_376484117

4 SubmittersRCV000729695 RCV001085380 RCV002352246 RCV004535825

NM_001267550.2(TTN):c.26982T>A (p.Gly8994=)

SNV
Germline

Chr2:178713152

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430284875

rs_1560588098

2 SubmittersRCV000729700 RCV006556588

NM_201384.3(PLEC):c.8451C>T (p.Asp2817=)

SNV
Germline

Chr8:143921370

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4925305

rs_201869295

2 SubmittersRCV000729784 RCV001479074

NM_001267550.2(TTN):c.210G>T (p.Val70=)

SNV
Germline

Chr2:178802223

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2006390

rs_746033038

3 SubmittersRCV000729860 RCV001475221

NM_012470.4(TNPO3):c.534T>C (p.Ser178=)

SNV
Germline

Chr7:129014997

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4478381

rs_770150722

2 SubmittersRCV000729865 RCV003768192

NM_001267550.2(TTN):c.29566C>T (p.Leu9856=)

SNV
Germline

Chr2:178705212

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA61000127

rs_371542947

2 SubmittersRCV000729932 RCV001089304

NM_201384.3(PLEC):c.5166G>A (p.Thr1722=)

SNV
Germline

Chr8:143924763

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4926408

rs_782597397

2 SubmittersRCV000729948 RCV005213376

NM_001101426.4(CRPPA):c.1264C>T (p.Leu422=)

SNV
Germline

Chr7:16091787

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Conflicting Classifications

CA4169321

rs_375514450

2 SubmittersRCV000729955 RCV001506644

NM_001267550.2(TTN):c.9468T>A (p.Val3156=)

SNV
Germline

Chr2:178767762

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA61001247

rs_879192388

4 SubmittersRCV000729984 RCV002067104 RCV002369993

NM_201384.3(PLEC):c.9192C>T (p.Thr3064=)

SNV
Germline

Chr8:143920629

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA4925045

rs_781876705

3 SubmittersRCV000730012 RCV001078489 RCV006265251

NM_058246.4(DNAJB6):c.974A>C (p.Asn325Thr)

SNV
Germline

Chr7:157416091

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4590684

rs_375911119

7 SubmittersRCV000730064 RCV000794806 RCV003353009

NM_001267550.2(TTN):c.39375A>G (p.Pro13125=)

SNV
Germline

Chr2:178651888

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1996752

rs_566794300

3 SubmittersRCV000730114 RCV001480507

NM_001267550.2(TTN):c.40634-5T>C

SNV
Germline

Chr2:178640635

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA913189562

rs_904821775

3 SubmittersRCV000730159 RCV002386298 RCV003768194

NM_001267550.2(TTN):c.42613T>C (p.Leu14205=)

SNV
Germline

Chr2:178633886

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1996042

rs_747480084

3 SubmittersRCV000730213 RCV002397508 RCV006556590

NM_001077365.2(POMT1):c.141T>C (p.Tyr47=)

SNV
Germline

Chr9:131506132

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA5293174

rs_752941420

2 SubmittersRCV000730249 RCV002060990

NM_201384.3(PLEC):c.13281C>T (p.Asp4427=)

SNV
Germline

Chr8:143916540

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4923853

rs_782135892

2 SubmittersRCV000730255 RCV002067105

NM_001267550.2(TTN):c.56118C>T (p.Ala18706=)

SNV
Germline

Chr2:178599783

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430268925

rs_1559671858

3 SubmittersRCV000730258 RCV001490555

NM_058246.4(DNAJB6):c.411G>A (p.Thr137=)

SNV
Germline

Chr7:157382310

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA4590510

rs_749714667

2 SubmittersRCV000730306 RCV003525957

NM_001267550.2(TTN):c.33975G>A (p.Val11325=)

SNV
Germline

Chr2:178678144

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430278835

rs_1560303919

2 SubmittersRCV000730354 RCV002060993

NM_004393.6(DAG1):c.222C>T (p.Val74=)

SNV
Germline

Chr3:49510756

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA2398847

rs_150727558

3 SubmittersRCV000730457 RCV002060994

NM_001267550.2(TTN):c.52152C>T (p.Thr17384=)

SNV
Germline

Chr2:178608859

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430271486

rs_1004455055

3 SubmittersRCV000730465 RCV002067108 RCV004678807

NM_201384.3(PLEC):c.4969C>T (p.Leu1657=)

SNV
Germline

Chr8:143924960

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4926482

rs_782048416

2 SubmittersRCV000730528 RCV002536448

NM_001267550.2(TTN):c.90180C>T (p.Ser30060=)

SNV
Germline

Chr2:178552720

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430245542

rs_1171957663

3 SubmittersRCV000730565 RCV002352247 RCV002535157

NM_000023.4(SGCA):c.364C>G (p.Leu122Val)

SNV
Germline

Chr17:50167998

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA400178798

rs_1567739857

2 SubmittersRCV000730572 RCV003509595

NM_001267550.2(TTN):c.24390T>C (p.Asp8130=)

SNV
Germline

Chr2:178718810

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430286687

rs_1158674912

2 SubmittersRCV000730577 RCV003117528

NM_213599.3(ANO5):c.181-4G>A

SNV
Germline

Chr11:22221093

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA5922834

rs_186533442

2 SubmittersRCV000730584 RCV002060995

NM_001267550.2(TTN):c.83526T>G (p.Ala27842=)

SNV
Germline

Chr2:178562606

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988908

rs_539533062

3 SubmittersRCV000730585 RCV001502224 RCV002343596

NM_012470.4(TNPO3):c.1453G>A (p.Val485Ile)

SNV
Germline

Chr7:128990006

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4478128

rs_751986019

2 SubmittersRCV000730638 RCV001046205

NM_201384.3(PLEC):c.5967C>T (p.Arg1989=)

SNV
Germline

Chr8:143923962

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4926165

rs_782366951

2 SubmittersRCV000730670 RCV001427362

NM_000070.3(CAPN3):c.1650T>C (p.Pro550=)

SNV
Germline

Chr15:42402907

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
CAPN3-related disorder

Criteria Provided
Conflicting Classifications

CA7511455

rs_766405190

4 SubmittersRCV000730715 RCV001278229 RCV004535838

NM_012470.4(TNPO3):c.1824C>T (p.Pro608=)

SNV
Germline

Chr7:128982283

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA457580896

rs_1563092740

2 SubmittersRCV000730716 RCV003584735

NM_201384.3(PLEC):c.9363G>A (p.Lys3121=)

SNV
Germline

Chr8:143920458

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924992

rs_782216573

2 SubmittersRCV000730728 RCV003768199

NM_001267550.2(TTN):c.3813T>C (p.Leu1271=)

SNV
Germline

Chr2:178779379

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005462

rs_773274762

3 SubmittersRCV000730813 RCV001442080 RCV002458341

NM_201384.3(PLEC):c.7584G>A (p.Gln2528=)

SNV
Germline

Chr8:143922237

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
PLEC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4925577

rs_372858742

6 SubmittersRCV000730814 RCV001496185 RCV004540052 RCV005431906

NM_201384.3(PLEC):c.8871G>A (p.Lys2957=)

SNV
Germline

Chr8:143920950

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
PLEC-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4925153

rs_368326361

6 SubmittersRCV000730816 RCV001459032 RCV004540054 RCV005431907

NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter)

SNV
Germline

Chr15:42408265

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA392000775

rs_1566983844

4 SubmittersRCV000730818 RCV001213723 RCV003472265 RCV006448590

NM_201384.3(PLEC):c.12669C>T (p.Arg4223=)

SNV
Germline

Chr8:143917152

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924021

rs_571894941

2 SubmittersRCV000730861 RCV001085044

NM_001267550.2(TTN):c.66372C>T (p.Thr22124=)

SNV
Germline

Chr2:178581997

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991537

rs_756981729

4 SubmittersRCV000730863 RCV001494292 RCV002369996

NM_001267550.2(TTN):c.39626-10A>G

SNV
Germline

Chr2:178650844

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA913190115

rs_1560092083

2 SubmittersRCV000730869 RCV006556592

NM_001267550.2(TTN):c.62901T>C (p.Pro20967=)

SNV
Germline

Chr2:178588824

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430265009

rs_1245531460

3 SubmittersRCV000730925 RCV002067110 RCV002458342

NM_000070.3(CAPN3):c.492C>T (p.His164=)

SNV
Germline

Chr15:42386279

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511026

rs_746311570

2 SubmittersRCV000730928 RCV001401882

NM_201384.3(PLEC):c.11805C>T (p.Ile3935=)

SNV
Germline

Chr8:143918016

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924245

rs_755044609

2 SubmittersRCV000730954 RCV001460516

NM_001267550.2(TTN):c.58008T>C (p.Asn19336=)

SNV
Germline

Chr2:178594486

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992945

rs_770525693

3 SubmittersRCV000731023 RCV001078946 RCV002319573

NM_213599.3(ANO5):c.1452C>G (p.Arg484=)

SNV
Germline

Chr11:22259563

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA473405004

rs_1564941781

2 SubmittersRCV000731028 RCV006556593

NM_201384.3(PLEC):c.4563G>A (p.Val1521=)

SNV
Germline

Chr8:143925366

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4926619

rs_781934865

2 SubmittersRCV000731034 RCV005223151

NM_201384.3(PLEC):c.3375C>T (p.Leu1125=)

SNV
Germline

Chr8:143927878

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4927106

rs_782733038

2 SubmittersRCV000731126 RCV001480028

NM_001267550.2(TTN):c.107301C>A (p.Ser35767Arg)

SNV
Germline

Chr2:178528350

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349401379

rs_1558965303

3 SubmittersRCV000731142 RCV005223152

NM_001267550.2(TTN):c.100629T>C (p.Tyr33543=)

SNV
Germline

Chr2:178536118

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986013

rs_772935423

3 SubmittersRCV000731152 RCV001464836 RCV002386302

NM_001267550.2(TTN):c.34575C>T (p.Ile11525=)

SNV
Germline

Chr2:178675076

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1998036

rs_537187311

3 SubmittersRCV000731217 RCV002067114 RCV005405288

NM_001267550.2(TTN):c.81393A>G (p.Lys27131=)

SNV
Germline

Chr2:178564739

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60988258

rs_374501251

2 SubmittersRCV000731370 RCV001487147

NM_012470.4(TNPO3):c.2718G>A (p.Glu906=)

SNV
Germline

Chr7:128957309

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA166236998

rs_751327499

2 SubmittersRCV000731375 RCV002067117

NM_001267550.2(TTN):c.64673-5T>C

SNV
Germline

Chr2:178584973

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60962359

rs_530496528

8 SubmittersRCV000731408 RCV001399219 RCV001727800 RCV003353011

NM_201384.3(PLEC):c.2493G>T (p.Val831=)

SNV
Germline

Chr8:143930263

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA463536156

rs_782281167

2 SubmittersRCV000731482 RCV002067121

NM_001267550.2(TTN):c.19428T>C (p.Asp6476=)

SNV
Germline

Chr2:178728396

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430292223

rs_1228771607

2 SubmittersRCV000731594 RCV001078684

NM_001267550.2(TTN):c.47766C>T (p.Thr15922=)

SNV
Germline

Chr2:178617229

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1994975

rs_757006832

5 SubmittersRCV000731606 RCV001452050 RCV004535847

NM_201384.3(PLEC):c.1866G>A (p.Val622=)

SNV
Germline

Chr8:143932511

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4927813

rs_782459118

2 SubmittersRCV000731614 RCV001461404

NM_213599.3(ANO5):c.1827A>G (p.Glu609=)

SNV
Germline

Chr11:22262972

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA473407322

rs_1564944168

2 SubmittersRCV000731702 RCV002061003

NM_000023.4(SGCA):c.37+10G>T

SNV
Germline

Chr17:50166087

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
SGCA-related disorder

Criteria Provided
Conflicting Classifications

CA8643649

rs_200626376

5 SubmittersRCV000731703 RCV001086847 RCV003938112

NM_201384.3(PLEC):c.1491G>A (p.Ala497=)

SNV
Germline

Chr8:143933039

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4927940

rs_782376231

2 SubmittersRCV000731708 RCV002061004

NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met)

SNV
Germline

Chr2:71535046

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705730

rs_376358025

4 SubmittersRCV000731709 RCV000802202 RCV001830617 RCV002535234

NM_001267550.2(TTN):c.50835T>C (p.Asn16945=)

SNV
Germline

Chr2:178611394

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1994305

rs_750172128

3 SubmittersRCV000731712 RCV004993984 RCV005225105

NM_001267550.2(TTN):c.52908G>C (p.Glu17636Asp)

SNV
Germline

Chr2:178607879

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993906

rs_748175453

4 SubmittersRCV000731713 RCV001088270 RCV001133058 RCV001136500 RCV001133057 RCV001133059 RCV001136501

NM_001267550.2(TTN):c.47715T>C (p.Asn15905=)

SNV
Germline

Chr2:178617370

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430107853

rs_1559839662

2 SubmittersRCV000731723 RCV001414548

NM_001267550.2(TTN):c.55303-4A>G

SNV
Germline

Chr2:178601791

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA538435665

rs_1191310144

2 SubmittersRCV000731785 RCV001082482

NM_001267550.2(TTN):c.90198T>G (p.Val30066=)

SNV
Germline

Chr2:178552702

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1987819

rs_761842174

4 SubmittersRCV000731801 RCV001078504 RCV002352249 RCV005405289

NM_201384.3(PLEC):c.349C>T (p.Leu117=)

SNV
Germline

Chr8:143937065

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4928468

rs_377334858

2 SubmittersRCV000731802 RCV001441219

NM_001267550.2(TTN):c.56670A>G (p.Lys18890=)

SNV
Germline

Chr2:178599040

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430268627

rs_1559663225

2 SubmittersRCV000731917 RCV001422986

NM_001267550.2(TTN):c.94494A>G (p.Ser31498=)

SNV
Germline

Chr2:178547031

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430242572

rs_1559155162

2 SubmittersRCV000731988 RCV001412847

NM_012470.4(TNPO3):c.282C>A (p.Ile94=)

SNV
Germline

Chr7:129017996

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA457601561

rs_1344567292

2 SubmittersRCV000731997 RCV005056488

NM_001101426.4(CRPPA):c.243A>G (p.Leu81=)

SNV
Germline

Chr7:16421080

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Conflicting Classifications

CA4169654

rs_763209907

3 SubmittersRCV000731999 RCV001082856

NM_017739.4(POMGNT1):c.99G>T (p.Arg33=)

SNV
Germline

Chr1:46197723

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833885

rs_767852518

2 SubmittersRCV000732025 RCV001489238

NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg)

SNV
Germline

Chr15:42399631

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511321

rs_773827877

4 SubmittersRCV000732092 RCV001855673 RCV004569417

NM_001267550.2(TTN):c.102398T>C (p.Ile34133Thr)

SNV
Germline

Chr2:178534217

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1985758

rs_764179161

7 SubmittersRCV000732211 RCV001307848 RCV002222619 RCV004535854

NM_201384.3(PLEC):c.1429C>T (p.Leu477=)

SNV
Germline

Chr8:143933101

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4927957

rs_150969631

2 SubmittersRCV000732214 RCV003768219

NM_001101426.4(CRPPA):c.1147C>A (p.Pro383Thr)

SNV
Germline

Chr7:16216170

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Conflicting Classifications

CA4169368

rs_571551238

2 SubmittersRCV000732216 RCV001411774

NM_000232.5(SGCB):c.538T>C (p.Phe180Leu)

SNV
Germline

Chr4:52028813

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA2918369

rs_536728645

3 SubmittersRCV000732217 RCV000796636

NM_213599.3(ANO5):c.835C>T (p.Arg279Ter)

SNV
Germline

Chr11:22239641

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA379920522

rs_1564930625

4 SubmittersRCV000732234 RCV001855768 RCV004800563

NM_201384.3(PLEC):c.6954G>A (p.Ala2318=)

SNV
Germline

Chr8:143922975

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4925800

rs_781896656

2 SubmittersRCV000732257 RCV001458304

NM_001267550.2(TTN):c.61953G>A (p.Gly20651=)

SNV
Germline

Chr2:178589772

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60967562

rs_1007434751

2 SubmittersRCV000732283 RCV001406572

NM_001267550.2(TTN):c.42873G>A (p.Ala14291=)

SNV
Germline

Chr2:178633486

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996000

rs_370216450

3 SubmittersRCV000732419 RCV002067129 RCV002397511

NM_012470.4(TNPO3):c.1122C>T (p.His374=)

SNV
Germline

Chr7:128997425

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4478247

rs_781217193

2 SubmittersRCV000732485 RCV002061010

NM_001267550.2(TTN):c.3670T>C (p.Leu1224=)

SNV
Germline

Chr2:178780059

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005507

rs_764873258

3 SubmittersRCV000732503 RCV001086158 RCV003344028

NM_001079802.2(FKTN):c.369+1G>C

SNV
Germline

Chr9:105601349

Pathogenic/Likely pathogenic

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA5170377

rs_764125009

3 SubmittersRCV000732554 RCV001868977 RCV005046998

NM_213599.3(ANO5):c.1960C>T (p.Arg654Ter)

SNV
Germline

Chr11:22270373

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA379923354

rs_1488095558

4 SubmittersRCV000732555 RCV001855686 RCV006459872

NM_004393.6(DAG1):c.1965C>T (p.Ile655=)

SNV
Germline

Chr3:49532476

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA2399182

rs_763343344

2 SubmittersRCV000732556 RCV001470084

NM_000070.3(CAPN3):c.2061G>A (p.Leu687=)

SNV
Germline

Chr15:42409941

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA489885772

rs_1566984937

2 SubmittersRCV000732610 RCV003631157

NM_201384.3(PLEC):c.12585C>T (p.Ile4195=)

SNV
Germline

Chr8:143917236

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA187607091

rs_1002095432

2 SubmittersRCV000732773 RCV006556597

NM_001101426.4(CRPPA):c.836-9T>A

SNV
Germline

Chr7:16278235

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Conflicting Classifications

CA4169471

rs_754223084

2 SubmittersRCV000732776 RCV001475030

NM_024301.5(FKRP):c.1236C>T (p.His412=)

SNV
Germline

Chr19:46756686

Conflicting classifications of pathogenicity

Condition: not provided
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype
FKRP-related disorder

Criteria Provided
Conflicting Classifications

CA9532279

rs_201076863

5 SubmittersRCV000732907 RCV001086434 RCV001830628 RCV002360859 RCV004535860

NM_000070.3(CAPN3):c.1947G>A (p.Glu649=)

SNV
Germline

Chr15:42409335

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511623

rs_79440238

4 SubmittersRCV000732909 RCV001080460

NM_201384.3(PLEC):c.5985G>A (p.Ala1995=)

SNV
Germline

Chr8:143923944

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4926157

rs_782237405

2 SubmittersRCV000732968 RCV001868981

NM_000023.4(SGCA):c.242G>A (p.Arg81His)

SNV
Germline

Chr17:50167666

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D
SGCA-related disorder

Criteria Provided
Conflicting Classifications

CA8643738

rs_747984529

7 SubmittersRCV000733070 RCV001830630 RCV003892655

NM_001267550.2(TTN):c.57243T>A (p.Ile19081=)

SNV
Germline

Chr2:178597927

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430097218

rs_1185555417

5 SubmittersRCV000733259 RCV001079885 RCV001553766 RCV002440577

NM_000023.4(SGCA):c.676C>T (p.Gln226Ter)

SNV
Germline

Chr17:50169183

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA400180725

rs_1567741398

3 SubmittersRCV000733288 RCV001381638

NM_201384.3(PLEC):c.11574G>A (p.Thr3858=)

SNV
Germline

Chr8:143918247

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924309

rs_370526712

3 SubmittersRCV000733313 RCV001085112

NM_017739.4(POMGNT1):c.1786-9C>T

SNV
Germline

Chr1:46189576

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA21910428

rs_961913683

2 SubmittersRCV000733317 RCV002067150

NM_000070.3(CAPN3):c.1290A>G (p.Thr430=)

SNV
Germline

Chr15:42399588

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511310

rs_757482856

2 SubmittersRCV000733402 RCV001505879

NM_058246.4(DNAJB6):c.633C>T (p.Asn211=)

SNV
Germline

Chr7:157385553

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA4590596

rs_376405451

2 SubmittersRCV000733404 RCV001478166

NM_001267550.2(TTN):c.66423C>T (p.Pro22141=)

SNV
Germline

Chr2:178581946

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430262549

rs_1322620894

3 SubmittersRCV000733407 RCV002067152 RCV004027062

NM_001267550.2(TTN):c.101532A>G (p.Thr33844=)

SNV
Germline

Chr2:178535083

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985868

rs_776839796

3 SubmittersRCV000733411 RCV002067153 RCV002386307

NM_001267550.2(TTN):c.12564C>A (p.Ala4188=)

SNV
Germline

Chr2:178740669

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430296256

rs_547338168

3 SubmittersRCV000733482 RCV001436792 RCV002458351

NM_000337.6(SGCD):c.3+7A>G

SNV
Germline

Chr5:156329586

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Conflicting Classifications

CA913189723

rs_1561622931

2 SubmittersRCV000733485 RCV002536498

NM_001267550.2(TTN):c.13365A>G (p.Val4455=)

SNV
Germline

Chr2:178739868

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60983802

rs_956041710

3 SubmittersRCV000733497 RCV002067154 RCV004993985

NM_001267550.2(TTN):c.12813C>T (p.His4271=)

SNV
Germline

Chr2:178740420

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA2002667

rs_373302409

4 SubmittersRCV000733499 RCV001427357 RCV003303220 RCV004535868

NM_001267550.2(TTN):c.96723C>G (p.Ala32241=)

SNV
Germline

Chr2:178543250

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430241262

rs_1223885458

3 SubmittersRCV000733506 RCV001437276 RCV005772028

NM_201384.3(PLEC):c.10011G>A (p.Thr3337=)

SNV
Germline

Chr8:143919810

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4924789

rs_367762942

4 SubmittersRCV000733539 RCV001457745

NM_000232.5(SGCB):c.18G>A (p.Ala6=)

SNV
Germline

Chr4:52038242

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA96791660

rs_998759536

2 SubmittersRCV000733541 RCV001084965

NM_000070.3(CAPN3):c.783C>T (p.Leu261=)

SNV
Germline

Chr15:42389078

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA489878902

rs_1566975668

2 SubmittersRCV000733571 RCV002535338

NM_201384.3(PLEC):c.4917C>T (p.Asn1639=)

SNV
Germline

Chr8:143925012

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4926500

rs_370503466

2 SubmittersRCV000733577 RCV001505835

NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=)

SNV
Germline

Chr2:178621151

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430276141

rs_1455525236

5 SubmittersRCV000733601 RCV001402269 RCV001700301 RCV002406669

NM_000337.6(SGCD):c.792C>T (p.Cys264=)

SNV
Germline

Chr5:156759309

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3530697

rs_367616773

3 SubmittersRCV000733610 RCV001078517 RCV002422631

NM_001267550.2(TTN):c.70983G>A (p.Pro23661=)

SNV
Germline

Chr2:178575149

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990693

rs_568193318

5 SubmittersRCV000733704 RCV001088370 RCV003330933 RCV003486926 RCV004678810

NM_001130987.2(DYSF):c.4046G>A (p.Arg1349His)

SNV
Germline

Chr2:71611333

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706848

rs_61742872

4 SubmittersRCV000733708 RCV001247790 RCV001830635

NM_000231.3(SGCG):c.578+8T>C

SNV
Germline

Chr13:23295495

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA482930321

rs_1359141230

2 SubmittersRCV000733715 RCV001485354

NM_001267550.2(TTN):c.97539T>C (p.Arg32513=)

SNV
Germline

Chr2:178541538

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1986528

rs_754524673

2 SubmittersRCV000733726 RCV001504590

NM_001267550.2(TTN):c.105999G>A (p.Gln35333=)

SNV
Germline

Chr2:178530616

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985181

rs_764231632

3 SubmittersRCV000733733 RCV001441256 RCV002406670

NM_201384.3(PLEC):c.12942G>A (p.Ala4314=)

SNV
Germline

Chr8:143916879

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4923945

rs_375246252

2 SubmittersRCV000733737 RCV001463033

NM_001267550.2(TTN):c.52050A>G (p.Lys17350=)

SNV
Germline

Chr2:178609260

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430271460

rs_1559756831

2 SubmittersRCV000733791 RCV003768235

NM_001267550.2(TTN):c.89250C>T (p.Ser29750=)

SNV
Germline

Chr2:178553755

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430245953

rs_1559221602

2 SubmittersRCV000733820 RCV001439304

NM_001267550.2(TTN):c.1446C>A (p.Ala482=)

SNV
Germline

Chr2:178793494

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA430114733

rs_183258737

3 SubmittersRCV000733825 RCV003768236 RCV006459877

NM_001267550.2(TTN):c.1452T>C (p.Asp484=)

SNV
Germline

Chr2:178793488

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006039

rs_746610206

3 SubmittersRCV000733841 RCV002535353 RCV004678811

NM_017739.4(POMGNT1):c.1287G>C (p.Gly429=)

SNV
Germline

Chr1:46192434

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA417886269

rs_1263918453

2 SubmittersRCV000733856 RCV001414472

NM_001130987.2(DYSF):c.5884+1G>A

SNV
Germline

Chr2:71674297

Pathogenic/Likely pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA49771597

rs_756689063

5 SubmittersRCV000733869 RCV000809651 RCV002290000 RCV003465667

NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu)

SNV
Germline

Chr2:71511811

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705338

rs_199677396

5 SubmittersRCV000733873 RCV001038268 RCV001273962 RCV002536504

NM_004393.6(DAG1):c.2123C>T (p.Thr708Met)

SNV
Germline

Chr3:49532634

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2399210

rs_758254304

6 SubmittersRCV000733878 RCV000818915 RCV003303222

NM_058246.4(DNAJB6):c.801G>A (p.Ser267=)

SNV
Germline

Chr7:157409904

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA458781448

rs_1252030610

2 SubmittersRCV000734027 RCV001493549

NM_201384.3(PLEC):c.10729G>A (p.Gly3577Ser)

SNV
Germline

Chr8:143919092

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
See cases
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924550

rs_782299720

5 SubmittersRCV000734033 RCV001208363 RCV002252224 RCV004649308

NM_213599.3(ANO5):c.87+10A>C

SNV
Germline

Chr11:22203860

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA5922770

rs_759370330

2 SubmittersRCV000734065 RCV001409097

NM_001267550.2(TTN):c.29931A>C (p.Pro9977=)

SNV
Germline

Chr2:178704541

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999285

rs_781508217

3 SubmittersRCV000734069 RCV002507307 RCV002536509

NM_017739.4(POMGNT1):c.1650-4G>A

SNV
Germline

Chr1:46189993

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA913189312

rs_1557669478

2 SubmittersRCV000734084 RCV003768240

NM_013382.7(POMT2):c.1786-8C>T

SNV
Germline

Chr14:77279936

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA263818680

rs_953851097

2 SubmittersRCV000734116 RCV001452560

NM_004393.6(DAG1):c.2415C>T (p.Asp805=)

SNV
Germline

Chr3:49532926

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA2399259

rs_749427996

2 SubmittersRCV000734118 RCV001088441

NM_001267550.2(TTN):c.72171A>C (p.Pro24057=)

SNV
Germline

Chr2:178573961

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430256849

rs_397517692

2 SubmittersRCV000734119 RCV001088923

NM_201384.3(PLEC):c.12495C>T (p.His4165=)

SNV
Germline

Chr8:143917326

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA187607142

rs_782564756

2 SubmittersRCV000734223 RCV002067163

NM_001267550.2(TTN):c.40576G>T (p.Glu13526Ter)

SNV
Germline

Chr2:178641298

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349664414

rs_1560026402

2 SubmittersRCV000734245 RCV001855805

NM_201384.3(PLEC):c.12207C>T (p.Arg4069=)

SNV
Germline

Chr8:143917614

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4924152

rs_377288637

2 SubmittersRCV000734250 RCV001392247

NM_001267550.2(TTN):c.35268G>A (p.Pro11756=)

SNV
Germline

Chr2:178671130

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1997871

rs_778338717

5 SubmittersRCV000734325 RCV001496625 RCV003226379

NM_001267550.2(TTN):c.29868T>C (p.His9956=)

SNV
Germline

Chr2:178704604

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999296

rs_373953903

2 SubmittersRCV000734344 RCV001416074

NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile)

SNV
Germline

Chr2:71590242

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706617

rs_770648429

4 SubmittersRCV000734455 RCV000795781 RCV001830640 RCV005821773

NM_201384.3(PLEC):c.2550C>G (p.Ala850=)

SNV
Germline

Chr8:143930206

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4927479

rs_376777606

3 SubmittersRCV000734525 RCV001088909

NM_213599.3(ANO5):c.69C>A (p.Tyr23Ter)

SNV
Germline

Chr11:22203832

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA5922767

rs_762035813

5 SubmittersRCV000734532 RCV005213380

NM_001267550.2(TTN):c.85443A>G (p.Ala28481=)

SNV
Germline

Chr2:178560689

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Cardiovascular phenotype
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA1988644

rs_373326137

7 SubmittersRCV000734566 RCV001086240 RCV001701438 RCV002352252 RCV005897268

NM_001267550.2(TTN):c.48330T>C (p.Thr16110=)

SNV
Germline

Chr2:178615771

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1994849

rs_557105262

3 SubmittersRCV000734637 RCV002422633 RCV003768243

NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter)

SNV
Germline

Chr9:131512069

Pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Multiple Submitters
No Conflicts

CA5293502

rs_756973046

4 SubmittersRCV000734638 RCV003465669 RCV006556603

NM_001267550.2(TTN):c.9472-10C>A

SNV
Germline

Chr2:178766622

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA913190016

rs_1561184482

2 SubmittersRCV000734640 RCV002536525

NM_001267550.2(TTN):c.6406T>C (p.Leu2136=)

SNV
Germline

Chr2:178775458

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005054

rs_765377738

3 SubmittersRCV000734641 RCV001494837 RCV002360862

NM_001267550.2(TTN):c.26244C>T (p.Val8748=)

SNV
Germline

Chr2:178714530

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000046

rs_780219663

2 SubmittersRCV000734644 RCV003768244

NM_001267550.2(TTN):c.75642C>T (p.Ile25214=)

SNV
Germline

Chr2:178570490

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430254817

rs_1559390679

2 SubmittersRCV000734666 RCV002536526

NM_201384.3(PLEC):c.7667G>A (p.Arg2556Gln)

SNV
Germline

Chr8:143922154

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925551

rs_782640329

4 SubmittersRCV000734705 RCV002535388 RCV004958072

NM_001267550.2(TTN):c.4098C>T (p.Ala1366=)

SNV
Germline

Chr2:178778984

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2005407

rs_760223250

2 SubmittersRCV000734712 RCV001498294

NM_001267550.2(TTN):c.103524C>G (p.Val34508=)

SNV
Germline

Chr2:178533091

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430236659

rs_587780985

2 SubmittersRCV000734757 RCV001437533

NM_201384.3(PLEC):c.12690C>T (p.Thr4230=)

SNV
Germline

Chr8:143917131

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4924010

rs_370135715

3 SubmittersRCV000734763 RCV001483286

NM_201384.3(PLEC):c.11415C>A (p.Ala3805=)

SNV
Germline

Chr8:143918406

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA187607511

rs_974011425

2 SubmittersRCV000734802 RCV001437269

NM_201384.3(PLEC):c.13437C>T (p.Ser4479=)

SNV
Germline

Chr8:143916384

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4923809

rs_782221357

2 SubmittersRCV000734804 RCV001414397

NM_001267550.2(TTN):c.23085G>A (p.Ala7695=)

SNV
Germline

Chr2:178720934

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000720

rs_768936623

2 SubmittersRCV000734806 RCV001089081

NM_001077365.2(POMT1):c.1194C>A (p.Pro398=)

SNV
Germline

Chr9:131515444

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA5293580

rs_371653610

2 SubmittersRCV000734808 RCV001087469

NM_001267550.2(TTN):c.33861G>A (p.Lys11287=)

SNV
Germline

Chr2:178678463

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60982662

rs_774614159

2 SubmittersRCV000734878 RCV006556607

NM_001267550.2(TTN):c.9618T>C (p.Phe3206=)

SNV
Germline

Chr2:178766466

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60999981

rs_878971586

4 SubmittersRCV000734899 RCV001404534 RCV002370000

NM_001267550.2(TTN):c.72630A>G (p.Glu24210=)

SNV
Germline

Chr2:178573502

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430256672

rs_1384344292

3 SubmittersRCV000734971 RCV002535406 RCV004027099

NM_201384.3(PLEC):c.11343G>T (p.Ser3781=)

SNV
Germline

Chr8:143918478

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA463528668

rs_376719872

2 SubmittersRCV000734989 RCV001346343

NM_001267550.2(TTN):c.58732+7A>G

SNV
Germline

Chr2:178593561

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA913189423

rs_1559614110

2 SubmittersRCV000734993 RCV002535409

NM_001267550.2(TTN):c.30223+1G>A

SNV
Germline

Chr2:178704146

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1999225

rs_556408709

3 SubmittersRCV000735178 RCV001855834 RCV004735792

NM_001130987.2(DYSF):c.4626+1G>A

SNV
Germline

Chr2:71644064

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA347218123

rs_1558708492

2 SubmittersRCV000786063 RCV005897273

NM_000231.3(SGCG):c.247G>T (p.Glu83Ter)

SNV
Germline

Chr13:23234662

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA387506557

rs_1566011034

1 SubmittersRCV000786075

NM_000023.4(SGCA):c.86A>T (p.His29Leu)

SNV
Germline

Chr17:50167416

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400176566

rs_1387802849

1 SubmittersRCV000786065

NM_001267550.2(TTN):c.106531+1G>A

SNV
Germline

Chr2:178529959

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tip-toe gait
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1985092

rs_760915007

6 SubmittersRCV000754724 RCV000986936 RCV001379575 RCV003319208 RCV003489852 RCV004678815

NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)

SNV
Germline

Chr2:178653292

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1997071

rs_767120669

6 SubmittersRCV000754743 RCV002284435 RCV004527768 RCV005502889

NM_021942.6(TRAPPC11):c.1568-1G>A

SNV
Germline

Chr4:183685083

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

CA358867759

rs_1180079162

1 SubmittersRCV000754740

NM_213599.3(ANO5):c.1119+1G>T

SNV
Germline

Chr11:22250847

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA5923130

rs_762946781

2 SubmittersRCV001240637 RCV002290657

NM_213599.3(ANO5):c.1982T>C (p.Leu661Pro)

SNV
Germline

Chr11:22270395

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
not specified
Miyoshi muscular dystrophy 3
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA379923407

rs_1472414854

3 SubmittersRCV001973711 RCV004690208 RCV005042631

NM_001130987.2(DYSF):c.875C>G (p.Pro292Arg)

SNV
Germline

Chr2:71515738

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

No Assertion Criteria Provided

CA347208984

rs_1559053603

1 SubmittersRCV000757939

NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter)

SNV
Germline

Chr1:46193599

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA340180874

rs_1557673817

3 SubmittersRCV000760851 RCV002533851 RCV003465680

NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter)

SNV
Germline

Chr2:178534662

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349418799

rs_534613934

3 SubmittersRCV000760599 RCV002533840 RCV005286203

NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter)

SNV
Germline

Chr2:178563028

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA349569463

rs_1559314812

4 SubmittersRCV000760332 RCV001377960 RCV003166016 RCV004545884

NM_001267550.2(TTN):c.81650G>A (p.Trp27217Ter)

SNV
Germline

Chr2:178564482

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349579100

rs_1559330805

2 SubmittersRCV000760877 RCV001066127

NM_001267550.2(TTN):c.78326G>A (p.Trp26109Ter)

SNV
Germline

Chr2:178567806

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349603262

rs_1559364892

2 SubmittersRCV000760684 RCV000824575

NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter)

SNV
Germline

Chr2:178575418

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349661692

rs_1559449398

3 SubmittersRCV000760841 RCV001855932 RCV004764938

NM_001267550.2(TTN):c.67519C>T (p.Gln22507Ter)

SNV
Germline

Chr2:178579678

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349423577

rs_1559490694

2 SubmittersRCV000760517 RCV006556618

NM_001267550.2(TTN):c.13966C>T (p.Gln4656Ter)

SNV
Germline

Chr2:178739267

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349605455

rs_747289468

2 SubmittersRCV000760630 RCV002533841

NM_152305.3(POGLUT1):c.552G>A (p.Trp184Ter)

SNV
Germline

Chr3:119480146

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2R1

Criteria Provided
Multiple Submitters
No Conflicts

CA354042275

rs_1560034617

3 SubmittersRCV000760636 RCV002290007

NM_004393.6(DAG1):c.175G>T (p.Glu59Ter)

SNV
Germline

Chr3:49510709

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Conflicting Classifications

CA352800618

rs_767737417

2 SubmittersRCV000760900 RCV001855933

NM_021971.4(GMPPB):c.490C>T (p.Gln164Ter)

SNV
Germline

Chr3:49722667

Pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Multiple Submitters
No Conflicts

CA352828694

rs_1559697183

2 SubmittersRCV000760617 RCV005213382

NM_021942.6(TRAPPC11):c.100C>T (p.Arg34Ter)

SNV
Germline

Chr4:183663967

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Multiple Submitters
No Conflicts

CA3151479

rs_569565392

3 SubmittersRCV000760814 RCV002533849

NM_021942.6(TRAPPC11):c.964C>T (p.Gln322Ter)

SNV
Germline

Chr4:183679485

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Multiple Submitters
No Conflicts

CA358862504

rs_1483190866

2 SubmittersRCV000760888 RCV001784373

NM_021942.6(TRAPPC11):c.3193C>T (p.Arg1065Ter)

SNV
Germline

Chr4:183708410

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Multiple Submitters
No Conflicts

CA3152471

rs_750976634

2 SubmittersRCV000760750 RCV003768286

NM_201384.3(PLEC):c.8991C>G (p.Tyr2997Ter)

SNV
Germline

Chr8:143920830

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA372514463

rs_1279778532

2 SubmittersRCV000760843 RCV003768288

NM_201384.3(PLEC):c.6910C>T (p.Gln2304Ter)

SNV
Germline

Chr8:143923019

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA4925812

rs_782107643

3 SubmittersRCV000760935 RCV001855934

NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter)

SNV
Germline

Chr15:42392660

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Reviewed By Expert Panel

CA7511203

rs_750443041

7 SubmittersRCV000760360 RCV001051737 RCV003461018 RCV004997267 RCV005012288

NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)

SNV
Germline

Chr2:178535508

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1985929

rs_766265889

7 SubmittersRCV000766232 RCV000769860 RCV000821045 RCV002485976 RCV003994109 RCV005298605

NM_001199563.2(BVES):c.816+2T>C

SNV
Germline

Chr6:105116699

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2X

No Assertion Criteria Provided

CA365317154

rs_1562133291

1 SubmittersRCV000768554

NM_001199563.2(BVES):c.1A>G (p.Met1Val)

SNV
Germline

Chr6:105133577

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2X

No Assertion Criteria Provided

CA365319017

rs_1332603843

1 SubmittersRCV000768556

NM_001267550.2(TTN):c.106662G>A (p.Glu35554=)

SNV
Germline

Chr2:178529089

Conflicting classifications of pathogenicity

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1985062

rs_753862749

3 SubmittersRCV000769844 RCV001489985 RCV003235388

NM_001267550.2(TTN):c.92232A>G (p.Glu30744=)

SNV
Germline

Chr2:178549394

Conflicting classifications of pathogenicity

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430243763

rs_1395558232

2 SubmittersRCV000768861 RCV001468628

NM_001267550.2(TTN):c.75142T>C (p.Leu25048=)

SNV
Germline

Chr2:178570990

Conflicting classifications of pathogenicity

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA60996378

rs_1034492140

5 SubmittersRCV000768929 RCV001412069 RCV003141748 RCV004686611 RCV005405296

NM_001267550.2(TTN):c.63285G>A (p.Pro21095=)

SNV
Germline

Chr2:178588122

Conflicting classifications of pathogenicity

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992115

rs_760168563

4 SubmittersRCV000769985 RCV002067213 RCV002458377 RCV003437425

NM_001267550.2(TTN):c.52601T>A (p.Leu17534Ter)

SNV
Germline

Chr2:178608282

Likely pathogenic

Cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349572617

rs_1559746821

3 SubmittersRCV000770014 RCV002458378 RCV005225122

NM_001267550.2(TTN):c.43861G>A (p.Asp14621Asn)

SNV
Germline

Chr2:178631187

Conflicting classifications of pathogenicity

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995796

rs_374032491

3 SubmittersRCV000769016 RCV000864144 RCV001508112

NM_001267550.2(TTN):c.16391G>C (p.Gly5464Ala)

SNV
Germline

Chr2:178732670

Conflicting classifications of pathogenicity

Cardiomyopathy
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA2002034

rs_377023302

4 SubmittersRCV000770100 RCV001135656 RCV001135652 RCV001135653 RCV001135654 RCV001135655 RCV003141756 RCV004559645

NM_001267550.2(TTN):c.4302T>C (p.Pro1434=)

SNV
Germline

Chr2:178777882

Conflicting classifications of pathogenicity

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430282240

rs_1561310756

2 SubmittersRCV000769132 RCV003768309

NM_001267550.2(TTN):c.3972G>A (p.Trp1324Ter)

SNV
Germline

Chr2:178779110

Likely pathogenic

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349475356

rs_1561323791

2 SubmittersRCV000769137 RCV001869064

NM_001267550.2(TTN):c.66770-10A>C

SNV
Germline

Chr2:178580619

Conflicting classifications of pathogenicity

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1991435

rs_769421715

2 SubmittersRCV000768951 RCV002067210

NM_001077365.2(POMT1):c.1698+1G>A

SNV
Germline

Chr9:131520194

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA5293772

rs_763586263

5 SubmittersRCV001040545 RCV001784380 RCV002469286 RCV003461048

NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys)

SNV
Germline

Chr2:71658980

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707158

rs_752946123

4 SubmittersRCV000778625 RCV002477780 RCV003230588 RCV005633675

NM_013382.7(POMT2):c.1793G>A (p.Trp598Ter)

SNV
Germline

Chr14:77279921

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390514887

rs_1566644018

1 SubmittersRCV003768426

NM_017739.4(POMGNT1):c.751+1G>A

SNV
Germline

Chr1:46194552

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340183667

rs_1247668825

4 SubmittersRCV002536739 RCV003465709 RCV005021162 RCV005051826

NM_213599.3(ANO5):c.180+2T>C

SNV
Germline

Chr11:22218289

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

CA379924832

rs_1564918396

1 SubmittersRCV003768423

NM_000070.3(CAPN3):c.2380+2T>G

SNV
Germline

Chr15:42411002

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511841

rs_761935462

7 SubmittersRCV000779157 RCV003229862

NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter)

SNV
Germline

Chr2:71611278

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347228166

rs_1558613592

2 SubmittersRCV000785919 RCV005409736

NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter)

SNV
Germline

Chr2:178534672

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349418837

rs_1575283255

3 SubmittersRCV000788631 RCV002535784 RCV004789186

NM_001267550.2(TTN):c.94667G>A (p.Trp31556Ter)

SNV
Germline

Chr2:178546761

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349471501

rs_868156117

3 SubmittersRCV000788575 RCV005626212 RCV005225143

NM_001267550.2(TTN):c.85713G>A (p.Trp28571Ter)

SNV
Germline

Chr2:178560419

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349550982

rs_1575612435

2 SubmittersRCV000788637 RCV000811065

NM_001267550.2(TTN):c.72227T>A (p.Leu24076Ter)

SNV
Germline

Chr2:178573905

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349647954

rs_1575780854

2 SubmittersRCV000788475 RCV006556682

NM_001267550.2(TTN):c.53432G>A (p.Trp17811Ter)

SNV
Germline

Chr2:178607170

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349564230

rs_1576359214

2 SubmittersRCV000788530 RCV006556683

NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter)

SNV
Germline

Chr2:178614226

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA60987368

rs_570046043

8 SubmittersRCV000788959 RCV001069013 RCV002424786 RCV004764940

NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)

SNV
Germline

Chr2:178766507

Pathogenic/Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA2004287

rs_746115846

8 SubmittersRCV000788122 RCV001341958 RCV003228799 RCV003150348 RCV004027361 RCV005359524

NM_001267550.2(TTN):c.3963+1G>T

SNV
Germline

Chr2:178779228

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349475587

rs_1561325112

2 SubmittersRCV000788466 RCV002535776

NM_001130987.2(DYSF):c.1149+3G>C

SNV
Germline

Chr2:71520907

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA915944007

rs_1573704236

2 SubmittersRCV000993851 RCV005029453

NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile)

SNV
Germline

Chr3:49722699

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2405548

rs_202013297

8 SubmittersRCV000815814 RCV000993849 RCV001592967 RCV006249691 RCV005870880

NM_001130987.2(DYSF):c.2473C>T (p.Gln825Ter)

SNV
Germline

Chr2:71564121

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347211350

rs_1574016452

1 SubmittersRCV000853624

NM_015602.4(TOR1AIP1):c.646G>T (p.Glu216Ter)

SNV
Germline

Chr1:179900161

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1268881

rs_778326858

2 SubmittersRCV000817819 RCV005645183

NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)

SNV
Germline

Chr1:46192175

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Inborn genetic diseases
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA833362

rs_727504103

7 SubmittersRCV000823735 RCV001266791 RCV003326497 RCV003461286 RCV002535998 RCV005253648 RCV006450360

NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter)

SNV
Germline

Chr1:46195834

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscle eye brain disease

Criteria Provided
Multiple Submitters
No Conflicts

CA340188042

rs_1424631447

4 SubmittersRCV000803088 RCV002534735 RCV003461142 RCV005606711

NM_017739.4(POMGNT1):c.7G>T (p.Asp3Tyr)

SNV
Germline

Chr1:46197815

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA833898

rs_201637813

3 SubmittersRCV000819640 RCV001830799 RCV003132101

NM_001267550.2(TTN):c.107833T>A (p.Phe35945Ile)

SNV
Germline

Chr2:178527155

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349398781

rs_1575169924

4 SubmittersRCV000809754 RCV001798983 RCV003141818 RCV005405320

NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter)

SNV
Germline

Chr2:178528367

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Left ventricular noncompaction cardiomyopathy
Condition: not provided
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349401413

rs_1477669354

4 SubmittersRCV000794012 RCV002061140 RCV002255166 RCV004796315

NM_001267550.2(TTN):c.103453G>T (p.Glu34485Ter)

SNV
Germline

Chr2:178533162

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349414238

rs_1575259969

1 SubmittersRCV000810405

NM_001267550.2(TTN):c.102916A>T (p.Lys34306Ter)

SNV
Germline

Chr2:178533699

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349415781

rs_1575269011

1 SubmittersRCV000806457

NM_001267550.2(TTN):c.100390G>T (p.Glu33464Ter)

SNV
Germline

Chr2:178536357

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349426091

rs_374920916

1 SubmittersRCV000810638

NM_001267550.2(TTN):c.95063T>A (p.Leu31688Ter)

SNV
Germline

Chr2:178546268

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349466950

rs_794729538

1 SubmittersRCV000793807

NM_001267550.2(TTN):c.93091G>T (p.Gly31031Ter)

SNV
Germline

Chr2:178548535

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349487952

rs_907669905

1 SubmittersRCV000794863

NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter)

SNV
Germline

Chr2:178554522

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349524576

rs_766450773

4 SubmittersRCV000799871 RCV002352352 RCV003320751

NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter)

SNV
Germline

Chr2:178557649

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349534715

rs_1575584918

2 SubmittersRCV000801960 RCV000825609

NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter)

SNV
Germline

Chr2:178560163

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA60984296

rs_72648224

3 SubmittersRCV000821629 RCV003227866 RCV004764943

NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter)

SNV
Germline

Chr2:178561313

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA60985029

rs_72648222

2 SubmittersRCV000800421 RCV003486932

NM_001267550.2(TTN):c.80547T>G (p.Tyr26849Ter)

SNV
Germline

Chr2:178565585

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349588316

rs_1575673206

1 SubmittersRCV000812768

NM_001267550.2(TTN):c.79539T>A (p.Tyr26513Ter)

SNV
Germline

Chr2:178566593

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349596257

rs_1575685597

1 SubmittersRCV000816354

NM_001267550.2(TTN):c.78249T>G (p.Tyr26083Ter)

SNV
Germline

Chr2:178567883

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349603428

rs_747203787

1 SubmittersRCV000794302

NM_001267550.2(TTN):c.77248C>T (p.Arg25750Ter)

SNV
Germline

Chr2:178568884

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349611659

rs_1575714442

2 SubmittersRCV000808319 RCV004721625

NM_001267550.2(TTN):c.74041C>T (p.Gln24681Ter)

SNV
Germline

Chr2:178572091

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349636031

rs_1575756767

1 SubmittersRCV000804424

NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter)

SNV
Germline

Chr2:178575253

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Left ventricular noncompaction cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349660525

rs_1575799625

2 SubmittersRCV000806370 RCV002067395

NM_001267550.2(TTN):c.69558G>A (p.Trp23186Ter)

SNV
Germline

Chr2:178576686

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349667569

rs_1575821175

1 SubmittersRCV000798352

NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter)

SNV
Germline

Chr2:178586583

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349441646

rs_1576014673

2 SubmittersRCV000809515 RCV000825608

NM_001267550.2(TTN):c.64222G>T (p.Glu21408Ter)

SNV
Germline

Chr2:178586679

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349442600

rs_1576015923

1 SubmittersRCV000810026

NM_001267550.2(TTN):c.61847G>A (p.Trp20616Ter)

SNV
Germline

Chr2:178589878

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349468328

rs_1576077909

1 SubmittersRCV000818732

NM_001267550.2(TTN):c.61324G>T (p.Glu20442Ter)

SNV
Germline

Chr2:178590401

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349473747

rs_751412533

1 SubmittersRCV000811913

NM_001267550.2(TTN):c.56783C>A (p.Ser18928Ter)

SNV
Germline

Chr2:178598927

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349526910

rs_1576240126

1 SubmittersRCV000815455

NM_001267550.2(TTN):c.54387G>A (p.Trp18129Ter)

SNV
Germline

Chr2:178604300

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349553237

rs_1576323463

1 SubmittersRCV000822947

NM_001267550.2(TTN):c.51633A>T (p.Gly17211=)

SNV
Germline

Chr2:178609790

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430271776

rs_879091553

2 SubmittersRCV000816645 RCV003166358

NM_001267550.2(TTN):c.46803G>A (p.Trp15601Ter)

SNV
Germline

Chr2:178618747

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349622238

rs_1576521473

2 SubmittersRCV000819832 RCV005436076

NM_001267550.2(TTN):c.46285G>T (p.Glu15429Ter)

SNV
Germline

Chr2:178620236

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349627970

rs_1576543528

1 SubmittersRCV000811443

NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter)

SNV
Germline/somatic

Chr2:178635683

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
TNN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA61006255

rs_747469275

7 SubmittersRCV000811776 RCV001375660 RCV004588281 RCV004764942 RCV005863286

NM_001267550.2(TTN):c.25783A>T (p.Lys8595Ter)

SNV
Germline

Chr2:178715631

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA60969223

rs_887577241

2 SubmittersRCV000810624 RCV004702440

NM_001267550.2(TTN):c.24865G>T (p.Gly8289Ter)

SNV
Germline

Chr2:178718141

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349495572

rs_1577954678

1 SubmittersRCV000810920

NM_001267550.2(TTN):c.14198G>A (p.Trp4733Ter)

SNV
Germline

Chr2:178738255

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349602643

rs_1574050861

1 SubmittersRCV000814448

NM_001267550.2(TTN):c.7955G>A (p.Trp2652Ter)

SNV
Germline

Chr2:178771372

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349678605

rs_1574584676

1 SubmittersRCV000813063

NM_001267550.2(TTN):c.6378G>A (p.Trp2126Ter)

SNV
Germline

Chr2:178775486

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005059

rs_754781119

4 SubmittersRCV000791623 RCV003141771 RCV006342546

NM_001267550.2(TTN):c.5981C>A (p.Ser1994Ter)

SNV
Germline

Chr2:178775883

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349445132

rs_758483877

2 SubmittersRCV000795945 RCV003238811

NM_001267550.2(TTN):c.5770A>T (p.Lys1924Ter)

SNV
Germline

Chr2:178776094

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349447663

rs_1327562179

1 SubmittersRCV000793444

NM_001267550.2(TTN):c.1034G>A (p.Trp345Ter)

SNV
Germline

Chr2:178795133

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349518971

rs_1574929972

4 SubmittersRCV000795870 RCV004561843 RCV005409743

NM_004369.4(COL6A3):c.2144C>T (p.Ser715Leu)

SNV
Germline

Chr2:237378989

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA2189473

rs_780115806

3 SubmittersRCV000792104 RCV003141773 RCV005626214

NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr)

SNV
Germline

Chr2:71551688

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705922

rs_376932915

6 SubmittersRCV000815952 RCV001830788 RCV001664434 RCV004619428

NM_001130987.2(DYSF):c.2105G>A (p.Arg702Gln)

SNV
Germline

Chr2:71553927

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706040

rs_749488054

4 SubmittersRCV000807551 RCV001825603 RCV003145159

NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr)

SNV
Germline

Chr2:71564133

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706187

rs_562925562

3 SubmittersRCV000822206 RCV001274455 RCV003353063

NM_001130987.2(DYSF):c.2884G>A (p.Ala962Thr)

SNV
Germline

Chr2:71569839

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706322

rs_535367520

4 SubmittersRCV000793819 RCV001271799 RCV003144591 RCV005550045

NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp)

SNV
Germline

Chr2:71570631

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Conflicting Classifications

CA1706433

rs_762486621

3 SubmittersRCV000799347 RCV001830718 RCV002487681

NM_001130987.2(DYSF):c.3805C>T (p.Arg1269Trp)

SNV
Germline

Chr2:71600750

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706711

rs_753817458

4 SubmittersRCV000796223 RCV001507562 RCV001272837

NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)

SNV
Germline

Chr2:71611344

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy
DYSF-related disorder

Reviewed By Expert Panel

CA1706854

rs_758993965

10 SubmittersRCV000812166 RCV001089590 RCV001830775 RCV003461204 RCV005253143 RCV005870901

NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe)

SNV
Germline

Chr2:71613369

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1707003

rs_367709130

4 SubmittersRCV000824074 RCV001271539 RCV001766755 RCV002538195

NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter)

SNV
Germline

Chr2:71613390

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347229643

rs_1574354515

2 SubmittersRCV000824113 RCV001830826

NM_001130987.2(DYSF):c.5176T>C (p.Ser1726Pro)

SNV
Germline

Chr2:71665163

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347220902

rs_1573060017

2 SubmittersRCV000824068 RCV005253649

NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys)

SNV
Germline

Chr2:71665262

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707308

rs_757240900

3 SubmittersRCV000796972 RCV001830714 RCV003489878

NM_004393.6(DAG1):c.235C>T (p.Arg79Ter)

SNV
Germline

Chr3:49510769

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P

Criteria Provided
Single Submitter

CA352800881

rs_1334656238

1 SubmittersRCV000810927

NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys)

SNV
Germline

Chr3:49722979

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2405586

rs_145535498

3 SubmittersRCV000793053 RCV001759493

NM_021971.4(GMPPB):c.109C>T (p.Gln37Ter)

SNV
Germline

Chr3:49723618

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

CA352831347

rs_1348189028

1 SubmittersRCV000801856

NM_021971.4(GMPPB):c.94C>T (p.Pro32Ser)

SNV
Germline

Chr3:49723633

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

CA352831442

rs_1575297292

2 SubmittersRCV000810959 RCV002282374

NM_031372.4(HNRNPDL):c.245G>T (p.Arg82Leu)

SNV
Germline

Chr4:82429446

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1G

Criteria Provided
Conflicting Classifications

CA2985111

rs_200595389

2 SubmittersRCV000817684

NM_058246.4(DNAJB6):c.404G>A (p.Arg135Gln)

SNV
Germline

Chr7:157382303

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4590508

rs_772121051

3 SubmittersRCV000809001 RCV003258985

NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter)

SNV
Germline

Chr7:16308539

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Single Submitter

CA367001588

rs_1466219701

1 SubmittersRCV000813269

NM_201384.3(PLEC):c.11605G>A (p.Gly3869Ser)

SNV
Germline

Chr8:143918216

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
PLEC-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA4924295

rs_782123116

6 SubmittersRCV000815663 RCV002473150 RCV004738023 RCV005392438

NM_201384.3(PLEC):c.7952G>A (p.Arg2651Gln)

SNV
Germline

Chr8:143921869

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases
Condition: not provided
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4925470

rs_375411469

4 SubmittersRCV000818453 RCV002535473 RCV003132099 RCV004738024

NM_201384.3(PLEC):c.4676G>A (p.Arg1559Gln)

SNV
Germline

Chr8:143925253

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926576

rs_371895113

4 SubmittersRCV000816981 RCV000840344

NM_201384.3(PLEC):c.4313G>A (p.Arg1438Gln)

SNV
Germline

Chr8:143925616

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926708

rs_782642707

4 SubmittersRCV000802916 RCV001508256 RCV004028125

NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter)

SNV
Germline

Chr9:131511459

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Single Submitter

CA375308694

rs_1588391612

1 SubmittersRCV000815478

NM_015046.7(SETX):c.3433C>T (p.Arg1145Trp)

SNV
Germline

Chr9:132328165

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA5297403

rs_375796832

2 SubmittersRCV000817426 RCV005626229

NM_213599.3(ANO5):c.775A>T (p.Lys259Ter)

SNV
Germline

Chr11:22239581

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

CA379920393

rs_1590266227

1 SubmittersRCV000805467

NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp)

SNV
Germline

Chr14:77278786

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Conflicting Classifications

CA7285582

rs_372939905

4 SubmittersRCV000815123 RCV002265894 RCV003132086 RCV003472425

NM_013382.7(POMT2):c.685C>T (p.Leu229Phe)

SNV
Germline

Chr14:77301221

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Criteria Provided
Conflicting Classifications

CA7286107

rs_754512099

2 SubmittersRCV000799133

NM_000070.3(CAPN3):c.550A>G (p.Thr184Ala)

SNV
Germline

Chr15:42387804

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA391997851

rs_1159580160

2 SubmittersRCV000820682 RCV005012373

NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro)

SNV
Germline

Chr15:42399625

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
CAPN3-related disorder
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA391999594

rs_1595834751

6 SubmittersRCV000820146 RCV003145204 RCV004538126 RCV006450356

NM_000070.3(CAPN3):c.1448C>A (p.Ala483Asp)

SNV
Germline

Chr15:42401734

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7511360

rs_781723572

3 SubmittersRCV000819470 RCV005012371

NM_000070.3(CAPN3):c.2306G>C (p.Arg769Pro)

SNV
Germline

Chr15:42410926

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA392002041

rs_80338802

2 SubmittersRCV000808148 RCV003461179

NM_000023.4(SGCA):c.265C>T (p.Leu89Phe)

SNV
Germline

Chr17:50167689

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2D
not specified

Criteria Provided
Conflicting Classifications

CA400177739

rs_773161308

2 SubmittersRCV000816168 RCV002235336

NM_024301.5(FKRP):c.933G>C (p.Glu311Asp)

SNV
Germline

Chr19:46756383

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309099616

rs_911700598

3 SubmittersRCV000813120 RCV002478891 RCV002372288

NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)

SNV
Germline

Chr19:46756746

Pathogenic/Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Multiple Submitters
No Conflicts

CA406497073

rs_1599939853

2 SubmittersRCV000810942 RCV002507413

NM_015602.4(TOR1AIP1):c.553+1G>A

SNV
Germline

Chr1:179884770

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Single Submitter

CA343579495

rs_1180978840

1 SubmittersRCV000798451

NM_017739.4(POMGNT1):c.652+1G>T

SNV
Germline

Chr1:46194843

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA21916937

rs_386834035

6 SubmittersRCV000796490 RCV001275751 RCV001508865 RCV003461088 RCV005029460

NM_001267550.2(TTN):c.88895-1G>A

SNV
Germline

Chr2:178554217

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349522393

rs_1575540533

2 SubmittersRCV000798257 RCV004796317

NM_001267550.2(TTN):c.34612+2T>C

SNV
Germline

Chr2:178675037

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349523971

rs_1577253441

1 SubmittersRCV000814981

NM_001267550.2(TTN):c.32311+1G>T

SNV
Germline

Chr2:178688110

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349551135

rs_1577433734

1 SubmittersRCV000800858

NM_001267550.2(TTN):c.4480+1G>T

SNV
Germline

Chr2:178777703

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349467916

rs_766581255

2 SubmittersRCV000796749 RCV005762098

NM_001267550.2(TTN):c.89197+2T>G

SNV
Germline

Chr2:178553912

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349520232

rs_1575536935

2 SubmittersRCV000796455 RCV006257321

NM_001267550.2(TTN):c.51436+1G>T

SNV
Germline

Chr2:178610089

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349585825

rs_761807131

1 SubmittersRCV000811952

NM_001267550.2(TTN):c.66464-2A>G

SNV
Germline

Chr2:178581806

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349429077

rs_1575921187

2 SubmittersRCV000806664 RCV002370148

NM_001267550.2(TTN):c.26482+1G>A

SNV
Germline

Chr2:178714291

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349469035

rs_1440418037

1 SubmittersRCV000800833

NM_001267550.2(TTN):c.55121-1G>A

SNV
Germline

Chr2:178602151

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349544535

rs_1576297857

1 SubmittersRCV000796805

NM_001267550.2(TTN):c.32554+1G>T

SNV
Germline

Chr2:178684905

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Single Submitter

CA60985314

rs_376018437

3 SubmittersRCV000815013 RCV001796789

NM_000232.5(SGCB):c.621+1G>A

SNV
Germline

Chr4:52028729

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Single Submitter

CA356876425

rs_1264362642

1 SubmittersRCV000824267

NM_021971.4(GMPPB):c.640+1G>A

SNV
Germline

Chr3:49722431

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
GMPPB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2405495

rs_141588721

5 SubmittersRCV000794094 RCV001568224 RCV003223413 RCV004782552

NM_001101426.4(CRPPA):c.836-5T>G

SNV
Germline

Chr7:16278231

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Single Submitter

CA915944880

rs_1583487698

1 SubmittersRCV000793995

NM_000231.3(SGCG):c.385+2T>C

SNV
Germline

Chr13:23250719

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal recessive limb-girdle muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6909661

rs_200206447

5 SubmittersRCV000811151 RCV003230597 RCV004596351

NM_000070.3(CAPN3):c.946-2A>G

SNV
Germline

Chr15:42392637

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
CAPN3-related disorder
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA391998733

rs_1595826673

6 SubmittersRCV000821687 RCV001091250 RCV003461274 RCV004540120 RCV005012374

NM_000070.3(CAPN3):c.2440-1G>C

SNV
Germline

Chr15:42411746

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392002368

rs_886044052

1 SubmittersRCV000815849

NM_001267550.2(TTN):c.56648-1G>A

SNV
Germline

Chr2:178599063

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993202

rs_769912484

6 SubmittersRCV000824892 RCV001248302 RCV002279552 RCV005502929 RCV004764944

NM_001267550.2(TTN):c.56347+1G>A

SNV
Germline

Chr2:178599553

Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349532918

rs_1576251664

4 SubmittersRCV000824893 RCV001377760 RCV004545885 RCV004764945

NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter)

SNV
Germline

Chr2:178531668

Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA60954275

rs_991187915

2 SubmittersRCV000825639 RCV003768554

NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)

SNV
Germline

Chr2:178563607

Likely pathogenic

Primary dilated cardiomyopathy
6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349573091

rs_1575649368

5 SubmittersRCV000825638 RCV002495191 RCV002538222 RCV002345917 RCV005240626

NM_001267550.2(TTN):c.49533-13G>A

SNV
Germline

Chr2:178613289

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60986863

rs_13395942

2 SubmittersRCV000826066 RCV003768564

NM_001267550.2(TTN):c.104328A>C (p.Pro34776=)

SNV
Germline

Chr2:178532287

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430235973

rs_1575245592

4 SubmittersRCV000840702 RCV001130746 RCV001133710 RCV001133712 RCV001130747 RCV001133711 RCV002536124 RCV005772039

NM_001267550.2(TTN):c.103267A>G (p.Ile34423Val)

SNV
Germline

Chr2:178533348

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1985634

rs_777746298

2 SubmittersRCV000840232 RCV002538290

NM_001267550.2(TTN):c.102293T>A (p.Ile34098Asn)

SNV
Germline

Chr2:178534322

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349417944

rs_1480810435

2 SubmittersRCV000842559 RCV001858442

NM_001267550.2(TTN):c.101684T>C (p.Ile33895Thr)

SNV
Germline

Chr2:178534931

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349419882

rs_1575286728

2 SubmittersRCV000827617 RCV006556730

NM_001267550.2(TTN):c.66600C>T (p.Ser22200=)

SNV
Germline

Chr2:178581668

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991471

rs_371324060

5 SubmittersRCV000840931 RCV001129184 RCV001129185 RCV001129186 RCV001129187 RCV001129188 RCV001502378 RCV002234382 RCV002372379

NM_001267550.2(TTN):c.55738C>T (p.Pro18580Ser)

SNV
Germline

Chr2:178601166

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1993391

rs_528329600

4 SubmittersRCV000841449 RCV001130547 RCV001130548 RCV001130549 RCV001130551 RCV001130550 RCV004538160

NM_001267550.2(TTN):c.52449C>T (p.Thr17483=)

SNV
Germline

Chr2:178608434

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1993986

rs_374894182

6 SubmittersRCV000827299 RCV001464897 RCV002427082 RCV005408007

NM_001267550.2(TTN):c.47481G>A (p.Gln15827=)

SNV
Germline

Chr2:178617870

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60990414

rs_752514306

5 SubmittersRCV000842590 RCV002415965 RCV005213414

NM_001267550.2(TTN):c.3549C>T (p.Ser1183=)

SNV
Germline

Chr2:178780180

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005521

rs_764819788

4 SubmittersRCV000839201 RCV001438500 RCV002332745

NM_001267550.2(TTN):c.864C>T (p.His288=)

SNV
Germline

Chr2:178799537

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006213

rs_772543040

5 SubmittersRCV000827440 RCV001128782 RCV001131433 RCV001131434 RCV001128783 RCV001128784 RCV001408199 RCV003307570

NM_201384.3(PLEC):c.12703A>G (p.Met4235Val)

SNV
Germline

Chr8:143917118

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA187606979

rs_782479828

3 SubmittersRCV000841463 RCV001224902

NM_201384.3(PLEC):c.12529G>A (p.Glu4177Lys)

SNV
Germline

Chr8:143917292

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA372481044

rs_1554671692

2 SubmittersRCV000841282 RCV001858438

NM_201384.3(PLEC):c.9694G>A (p.Glu3232Lys)

SNV
Germline

Chr8:143920127

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA187609780

rs_1030581337

2 SubmittersRCV000827298 RCV001339389

NM_201384.3(PLEC):c.7031G>A (p.Arg2344Gln)

SNV
Germline

Chr8:143922898

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA372530427

rs_782566489

2 SubmittersRCV000827507 RCV001213259

NM_201384.3(PLEC):c.5420G>A (p.Arg1807His)

SNV
Germline

Chr8:143924509

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926368

rs_782737003

3 SubmittersRCV000826987 RCV001340973 RCV005702339

NM_201384.3(PLEC):c.4795G>C (p.Glu1599Gln)

SNV
Germline

Chr8:143925134

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA372552942

rs_782412083

2 SubmittersRCV000842088 RCV003768602

NM_201384.3(PLEC):c.1872C>T (p.Ala624=)

SNV
Germline

Chr8:143932505

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4927810

rs_782547448

3 SubmittersRCV000841007 RCV002538302

NM_201384.3(PLEC):c.1246G>A (p.Asp416Asn)

SNV
Germline

Chr8:143934015

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4928091

rs_782674838

4 SubmittersRCV000842612 RCV001296994 RCV005463175

NM_201384.3(PLEC):c.2739+4C>T

SNV
Germline

Chr8:143929932

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4927400

rs_782418880

2 SubmittersRCV000841505 RCV002538313

NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter)

SNV
Germline

Chr2:178740965

Likely pathogenic

Primary familial dilated cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349615850

rs_1574087037

3 SubmittersRCV000845353 RCV003307577 RCV006556749

NM_213599.3(ANO5):c.1362G>A (p.Thr454=)

SNV
Germline

Chr11:22257709

Conflicting classifications of pathogenicity

Myopathy
ANO5-Related Muscle Diseases
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5923227

rs_747933251

3 SubmittersRCV000850322 RCV001106642 RCV002538353

NM_001267550.2(TTN):c.104017A>G (p.Met34673Val)

SNV
Germline

Chr2:178532598

Conflicting classifications of pathogenicity

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985500

rs_758352523

3 SubmittersRCV000852773 RCV006556758 RCV005633760

NM_001267550.2(TTN):c.67636+2T>C

SNV
Germline

Chr2:178579559

Likely pathogenic

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349423314

rs_1575872984

2 SubmittersRCV000852820 RCV001858514

NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter)

SNV
Germline

Chr2:178610090

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary familial dilated cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA60984033

rs_906494713

5 SubmittersRCV000852521 RCV001216730 RCV001328329 RCV002442788 RCV006252737

NM_001267550.2(TTN):c.44014G>A (p.Asp14672Asn)

SNV
Germline

Chr2:178631034

Conflicting classifications of pathogenicity

Atrial fibrillation
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349646444

rs_1339350914

2 SubmittersRCV000852858 RCV003768625

NM_000231.3(SGCG):c.371G>T (p.Gly124Val)

SNV
Germline

Chr13:23250703

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Sarcoglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA6909656

rs_183204936

4 SubmittersRCV000852689 RCV001111146 RCV001239951

NM_001267550.2(TTN):c.25064-4A>G

SNV
Germline

Chr2:178717814

Conflicting classifications of pathogenicity

Familial restrictive cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2000286

rs_747247583

2 SubmittersRCV000853153 RCV000863734

NM_001077365.2(POMT1):c.280+1G>T

SNV
Germline

Chr9:131506454

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Condition: not provided
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Multiple Submitters
No Conflicts

CA5293206

rs_746823238

8 SubmittersRCV000853233 RCV001683668 RCV001869305

NM_001130987.2(DYSF):c.5571G>C (p.Trp1857Cys)

SNV
Germline

Chr2:71669136

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347222737

rs_1573094789

1 SubmittersRCV000855417

NM_001130987.2(DYSF):c.4216G>T (p.Glu1406Ter)

SNV
Germline

Chr2:71611621

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347228957

rs_866823474

1 SubmittersRCV000855418

NM_213599.3(ANO5):c.1755T>A (p.Tyr585Ter)

SNV
Germline

Chr11:22262253

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379922746

rs_1364860348

1 SubmittersRCV000855428

NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter)

SNV
Germline

Chr11:22257706

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA5923225

rs_754889480

4 SubmittersRCV000855432 RCV001784470 RCV001858524 RCV003985437

NM_001130987.2(DYSF):c.5850G>A (p.Trp1950Ter)

SNV
Germline

Chr2:71674262

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347225294

rs_1573138336

1 SubmittersRCV000855442

NM_001267550.2(TTN):c.90382A>T (p.Thr30128Ser)

SNV
Germline

Chr2:178552518

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Limb-girdle muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA1987795

rs_183939928

9 SubmittersRCV000863180 RCV001086197 RCV002363215 RCV005626243 RCV005405355

NM_001267550.2(TTN):c.63132T>C (p.Ile21044=)

SNV
Germline

Chr2:178588593

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992144

rs_561183059

3 SubmittersRCV000863129 RCV002336762 RCV003141875

NM_001267550.2(TTN):c.27625A>G (p.Lys9209Glu)

SNV
Germline

Chr2:178712205

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1999759

rs_148355969

7 SubmittersRCV000863182 RCV001088473 RCV005405356

NM_001267550.2(TTN):c.25476T>C (p.Asp8492=)

SNV
Germline

Chr2:178717258

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000211

rs_777349143

4 SubmittersRCV000863427 RCV001712803

NM_001267550.2(TTN):c.7815C>T (p.Tyr2605=)

SNV
Germline

Chr2:178773149

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA2004751

rs_184428451

6 SubmittersRCV000863088 RCV001170100 RCV002275165 RCV002399869 RCV005405353

NM_001267550.2(TTN):c.105141G>A (p.Glu35047=)

SNV
Germline

Chr2:178531474

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA60954123

rs_752897450

4 SubmittersRCV000865745 RCV002064518 RCV002409037 RCV002495252

NM_001267550.2(TTN):c.104979G>A (p.Thr34993=)

SNV
Germline

Chr2:178531636

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985329

rs_775644738

4 SubmittersRCV000865716 RCV001132524 RCV001133451 RCV001132526 RCV001132525 RCV001133450 RCV002409036 RCV003222157

NM_001267550.2(TTN):c.104126G>A (p.Arg34709His)

SNV
Germline

Chr2:178532489

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1985479

rs_574420969

4 SubmittersRCV000866599 RCV001195473 RCV002399896 RCV004735838

NM_001267550.2(TTN):c.93991G>A (p.Gly31331Arg)

SNV
Germline

Chr2:178547635

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987217

rs_377660595

2 SubmittersRCV000865428 RCV002363229

NM_001267550.2(TTN):c.82488C>T (p.Asp27496=)

SNV
Germline

Chr2:178563644

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989061

rs_373909196

3 SubmittersRCV000867909 RCV002345987 RCV003141878

NM_001267550.2(TTN):c.81777T>C (p.Asp27259=)

SNV
Germline

Chr2:178564355

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430251058

rs_1438778988

2 SubmittersRCV000867700 RCV003768658

NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys)

SNV
Germline

Chr2:178573330

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990449

rs_370474301

5 SubmittersRCV000868385 RCV001355526

NM_001267550.2(TTN):c.72720T>A (p.Val24240=)

SNV
Germline

Chr2:178573412

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1990464

rs_550285671

5 SubmittersRCV000870445 RCV001136391 RCV001136393 RCV001136390 RCV001136392 RCV001136394 RCV001570141 RCV003235427 RCV003353074

NM_001267550.2(TTN):c.66794C>T (p.Ala22265Val)

SNV
Germline

Chr2:178580585

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991428

rs_750836266

5 SubmittersRCV000864416 RCV002352518 RCV004538217 RCV005240653 RCV005633766

NM_001267550.2(TTN):c.61161A>G (p.Thr20387=)

SNV
Germline

Chr2:178590564

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430266451

rs_1576089893

2 SubmittersRCV000870155 RCV001395275

NM_001267550.2(TTN):c.60928C>T (p.Arg20310Cys)

SNV
Germline

Chr2:178590797

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1992428

rs_200898955

4 SubmittersRCV000867314 RCV001083782 RCV004735841 RCV006459993

NM_001267550.2(TTN):c.56433T>C (p.Asp18811=)

SNV
Germline

Chr2:178599360

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993249

rs_771353550

3 SubmittersRCV001133995 RCV001131039 RCV001133997 RCV001131038 RCV001133996 RCV002064540 RCV003362992

NM_001267550.2(TTN):c.55010C>T (p.Pro18337Leu)

SNV
Germline

Chr2:178602392

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993547

rs_764568599

4 SubmittersRCV000866210 RCV001585819 RCV002434090

NM_001267550.2(TTN):c.54078A>T (p.Ala18026=)

SNV
Germline

Chr2:178605099

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993703

rs_747908048

6 SubmittersRCV000868800 RCV001136166 RCV001132769 RCV001132770 RCV001136164 RCV001136165 RCV001729724 RCV001729725 RCV002434104

NM_001267550.2(TTN):c.53943A>T (p.Gly17981=)

SNV
Germline

Chr2:178605234

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993715

rs_367580862

4 SubmittersRCV000868264 RCV001759652 RCV003169149

NM_001267550.2(TTN):c.44229G>A (p.Gly14743=)

SNV
Germline

Chr2:178630293

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1995713

rs_376445406

4 SubmittersRCV000868047 RCV001133750 RCV001130791 RCV001133748 RCV001133749 RCV001133751 RCV001433548 RCV002409058

NM_001267550.2(TTN):c.38961A>G (p.Val12987=)

SNV
Germline

Chr2:178652735

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996930

rs_552745605

2 SubmittersRCV000867516 RCV005405362

NM_001267550.2(TTN):c.30717A>C (p.Lys10239Asn)

SNV
Germline

Chr2:178698880

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1999047

rs_553520141

4 SubmittersRCV000868527 RCV002501280 RCV003141879 RCV006459997

NM_001267550.2(TTN):c.28011C>T (p.Asp9337=)

SNV
Germline

Chr2:178711225

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999675

rs_757848062

3 SubmittersRCV000866261 RCV001135401 RCV001135402 RCV001135403 RCV001135404 RCV001130353 RCV001585820

NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys)

SNV
Germline

Chr2:178721997

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA2000790

rs_754885396

5 SubmittersRCV000867034 RCV001570921 RCV002495268 RCV003330976

NM_001267550.2(TTN):c.14141G>A (p.Gly4714Asp)

SNV
Germline

Chr2:178738312

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002459

rs_750125429

2 SubmittersRCV000867338 RCV003141877

NM_001267550.2(TTN):c.691G>A (p.Ala231Thr)

SNV
Germline

Chr2:178799710

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2006241

rs_752452129

2 SubmittersRCV000869186 RCV003141880

NM_021942.6(TRAPPC11):c.2169C>G (p.Phe723Leu)

SNV
Germline

Chr4:183693079

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Conflicting Classifications

CA3152119

rs_146441514

2 SubmittersRCV000864624 RCV001084772

NM_015602.4(TOR1AIP1):c.493C>G (p.Gln165Glu)

SNV
Germline

Chr1:179884709

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Conflicting Classifications

CA1268811

rs_142574917

2 SubmittersRCV000876065 RCV001440764

NM_017739.4(POMGNT1):c.796C>T (p.Arg266Trp)

SNV
Germline

Chr1:46194357

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA833601

rs_200363064

5 SubmittersRCV000876799 RCV001277255 RCV001508864 RCV003890001

NM_001267550.2(TTN):c.98341T>C (p.Cys32781Arg)

SNV
Germline

Chr2:178539724

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1986390

rs_562178341

4 SubmittersRCV000872200 RCV001546849 RCV002363275

NM_001267550.2(TTN):c.94239C>A (p.Thr31413=)

SNV
Germline

Chr2:178547286

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60972829

rs_1042759526

4 SubmittersRCV001132944 RCV001132945 RCV001132943 RCV001136382 RCV001132942 RCV002065447 RCV002363318 RCV003438547

NM_001267550.2(TTN):c.91774G>A (p.Asp30592Asn)

SNV
Germline

Chr2:178550064

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987566

rs_767435344

2 SubmittersRCV002539116 RCV003141881

NM_001267550.2(TTN):c.67146C>T (p.Gly22382=)

SNV
Germline

Chr2:178580141

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1991363

rs_770418172

4 SubmittersRCV000871836 RCV001469669 RCV003307638 RCV004538307

NM_001267550.2(TTN):c.30702G>A (p.Lys10234=)

SNV
Germline

Chr2:178698895

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60993676

rs_573246972

4 SubmittersRCV001484171 RCV004530880 RCV005405384 RCV005633771

NM_001267550.2(TTN):c.25956A>G (p.Ile8652Met)

SNV
Germline

Chr2:178715230

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2000093

rs_760452917

2 SubmittersRCV003141882 RCV002539117

NM_001267550.2(TTN):c.9195G>A (p.Lys3065=)

SNV
Germline

Chr2:178768124

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure

Criteria Provided
Conflicting Classifications

CA2004408

rs_780650145

2 SubmittersRCV000877506 RCV001129968 RCV001129969 RCV001135008 RCV001135009 RCV001129967

NM_001130987.2(DYSF):c.2387G>A (p.Arg796His)

SNV
Germline

Chr2:71561922

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706133

rs_185891286

3 SubmittersRCV000876867 RCV001271792 RCV001772165

NM_031372.4(HNRNPDL):c.1097G>C (p.Gly366Ala)

SNV
Germline

Chr4:82426558

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1G

Criteria Provided
Conflicting Classifications

CA2984778

rs_200123403

2 SubmittersRCV000874590

NM_201384.3(PLEC):c.13149C>T (p.Ala4383=)

SNV
Germline

Chr8:143916672

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4923899

rs_199719299

2 SubmittersRCV000876800 RCV001517307

NM_201384.3(PLEC):c.11394G>A (p.Arg3798=)

SNV
Germline

Chr8:143918427

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924359

rs_368222729

3 SubmittersRCV000877475 RCV001199089 RCV002275167

NM_201384.3(PLEC):c.10608G>A (p.Thr3536=)

SNV
Germline

Chr8:143919213

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4924590

rs_782337540

2 SubmittersRCV000878858 RCV001488855

NM_201384.3(PLEC):c.9576C>T (p.Tyr3192=)

SNV
Germline

Chr8:143920245

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924927

rs_201460864

3 SubmittersRCV000874240 RCV001288680

NM_201384.3(PLEC):c.8763G>A (p.Thr2921=)

SNV
Germline

Chr8:143921058

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925192

rs_377001239

3 SubmittersRCV000874228 RCV001593098

NM_201384.3(PLEC):c.7613A>G (p.Gln2538Arg)

SNV
Germline

Chr8:143922208

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925566

rs_372005251

4 SubmittersRCV000874229 RCV001551252 RCV004027840

NM_201384.3(PLEC):c.6971G>A (p.Arg2324Gln)

SNV
Germline

Chr8:143922958

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925794

rs_561571844

3 SubmittersRCV000874700 RCV001288352

NM_201384.3(PLEC):c.4617G>A (p.Glu1539=)

SNV
Germline

Chr8:143925312

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA463535137

rs_1485661864

2 SubmittersRCV002540031 RCV003132117

NM_032237.5(POMK):c.44G>A (p.Arg15Gln)

SNV
Germline

Chr8:43103592

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4736178

rs_377725187

6 SubmittersRCV000876091 RCV001331468 RCV001507732 RCV002539213

NM_000231.3(SGCG):c.615C>A (p.Ala205=)

SNV
Germline

Chr13:23320673

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2C
Sarcoglycanopathy

Criteria Provided
Conflicting Classifications

CA6909797

rs_142409090

3 SubmittersRCV000876725 RCV001113155

NM_000023.4(SGCA):c.33C>T (p.Leu11=)

SNV
Germline

Chr17:50166073

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8643644

rs_762704751

2 SubmittersRCV000876036 RCV001772164

NM_001130987.2(DYSF):c.1449+3G>A

SNV
Germline

Chr2:71535092

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705740

rs_764771218

3 SubmittersRCV000874517 RCV001276727 RCV003145218

NM_001130987.2(DYSF):c.5458-5C>T

SNV
Germline

Chr2:71668749

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707395

rs_780391061

3 SubmittersRCV000872858 RCV001276861 RCV002064714

NM_201384.3(PLEC):c.342+7C>T

SNV
Germline

Chr8:143937158

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
PLEC-related epidermolysis bullosa
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4928490

rs_367808541

3 SubmittersRCV000877444 RCV001270893 RCV004530870

NM_017739.4(POMGNT1):c.420G>A (p.Thr140=)

SNV
Germline

Chr1:46196012

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Retinal dystrophy
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA833742

rs_146237009

5 SubmittersRCV000950279 RCV001272274 RCV001097865 RCV001097866 RCV003890103 RCV004543562

NM_001267550.2(TTN):c.31548G>A (p.Glu10516=)

SNV
Germline

Chr2:178693655

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1998916

rs_777887659

2 SubmittersRCV001131783 RCV001131784 RCV001131785 RCV001131786 RCV001129106 RCV005208670

NM_001130987.2(DYSF):c.2937C>T (p.Pro979=)

SNV
Germline

Chr2:71569892

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706334

rs_192717273

3 SubmittersRCV000953941 RCV001271800

NM_021942.6(TRAPPC11):c.944A>G (p.His315Arg)

SNV
Germline

Chr4:183679465

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type R18
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3151751

rs_533000838

3 SubmittersRCV000952134 RCV005235500

NM_000232.5(SGCB):c.939C>T (p.Pro313=)

SNV
Germline

Chr4:52023975

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2E
Qualitative or quantitative defects of beta-sarcoglycan
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2918239

rs_375438506

3 SubmittersRCV000946426 RCV001145733 RCV003432950

NM_201384.3(PLEC):c.5115G>A (p.Ala1705=)

SNV
Germline

Chr8:143924814

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926427

rs_782757364

5 SubmittersRCV000951398 RCV001288294

NM_201384.3(PLEC):c.4923G>A (p.Ala1641=)

SNV
Germline

Chr8:143925006

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4926499

rs_782278045

2 SubmittersRCV000950595 RCV001401030

NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=)

SNV
Germline

Chr2:71612760

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706969

rs_144072850

3 SubmittersRCV000960106 RCV001274837

NM_201384.3(PLEC):c.13574C>T (p.Ser4525Leu)

SNV
Germline

Chr8:143916247

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4923756

rs_368507062

4 SubmittersRCV000960715 RCV003243384 RCV003457895

NM_201384.3(PLEC):c.2262C>T (p.Ser754=)

SNV
Germline

Chr8:143931576

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4927600

rs_782261639

2 SubmittersRCV000959994 RCV003132127

NM_001267550.2(TTN):c.76483G>A (p.Val25495Ile)

SNV
Germline

Chr2:178569649

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1989905

rs_773127796

4 SubmittersRCV000887823 RCV001087517 RCV001130427 RCV001135505 RCV001135504 RCV001130428 RCV001135506

NM_021942.6(TRAPPC11):c.1305T>A (p.Leu435=)

SNV
Germline

Chr4:183684162

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type R18
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3151878

rs_373944670

2 SubmittersRCV000887532 RCV002473158

NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=)

SNV
Germline

Chr4:183694038

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Conflicting Classifications

CA3152207

rs_201868142

3 SubmittersRCV000887597 RCV001079068

NM_058246.4(DNAJB6):c.940G>A (p.Glu314Lys)

SNV
Germline

Chr7:157416057

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA370167662

rs_1584956408

2 SubmittersRCV005092627

NM_017739.4(POMGNT1):c.1482C>T (p.Asp494=)

SNV
Germline

Chr1:46192155

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related

Criteria Provided
Conflicting Classifications

CA833353

rs_769213562

2 SubmittersRCV000903844 RCV001099570 RCV001099571

NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=)

SNV
Germline

Chr2:71613407

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707011

rs_751456837

3 SubmittersRCV000895370 RCV001274840

NM_001267550.2(TTN):c.99996G>A (p.Glu33332=)

SNV
Germline

Chr2:178537113

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1986092

rs_754693509

2 SubmittersRCV000924120 RCV001450701

NM_001267550.2(TTN):c.99900C>T (p.Ile33300=)

SNV
Germline

Chr2:178537209

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1986112

rs_747130957

4 SubmittersRCV001136254 RCV001136255 RCV001136256 RCV001136257 RCV001136258 RCV001471963 RCV002382070 RCV003330995

NM_001267550.2(TTN):c.85449C>T (p.Ile28483=)

SNV
Germline

Chr2:178560683

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988641

rs_758811159

3 SubmittersRCV001133270 RCV001133271 RCV001133268 RCV001134722 RCV001133269 RCV001464460 RCV002354761

NM_001267550.2(TTN):c.17910T>C (p.His5970=)

SNV
Germline

Chr2:178730623

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430292939

rs_1175537809

2 SubmittersRCV000912805 RCV002540846

NM_001130987.2(DYSF):c.6321G>A (p.Pro2107=)

SNV
Germline

Chr2:71682677

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707670

rs_139267208

3 SubmittersRCV000912278 RCV001276877 RCV005865424

NM_021942.6(TRAPPC11):c.2817C>T (p.Thr939=)

SNV
Germline

Chr4:183697801

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type R18
TRAPPC11-related disorder

Criteria Provided
Conflicting Classifications

CA3152319

rs_778742385

3 SubmittersRCV000912765 RCV001415746 RCV003977986

NM_201384.3(PLEC):c.1830C>T (p.Ala610=)

SNV
Germline

Chr8:143932547

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA187621193

rs_1008611582

2 SubmittersRCV001499266 RCV005001124

NM_201384.3(PLEC):c.3081+9C>T

SNV
Germline

Chr8:143929405

Conflicting classifications of pathogenicity

Condition: not provided
PLEC-related disorder
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA187618976

rs_371983298

3 SubmittersRCV000926220 RCV004543479 RCV005208647

NM_001267550.2(TTN):c.107410T>C (p.Leu35804=)

SNV
Germline

Chr2:178527716

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA430092428

rs_1445566495

4 SubmittersRCV000940416 RCV002416202 RCV005633778 RCV005405417

NM_001267550.2(TTN):c.105360C>T (p.Thr35120=)

SNV
Germline

Chr2:178531255

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60953979

rs_904049980

3 SubmittersRCV000940825 RCV003141900 RCV004994143

NM_001267550.2(TTN):c.32160C>T (p.Phe10720=)

SNV
Germline

Chr2:178688714

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60987896

rs_1020838415

2 SubmittersRCV001431475 RCV004720023

NM_001267550.2(TTN):c.26373T>C (p.Ile8791=)

SNV
Germline

Chr2:178714401

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60968178

rs_949446550

2 SubmittersRCV000929832 RCV003169340

NM_001267550.2(TTN):c.15896G>C (p.Arg5299Thr)

SNV
Germline

Chr2:178733397

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002136

rs_563456537

2 SubmittersRCV000942522 RCV003141901

NM_001130987.2(DYSF):c.1926C>T (p.Phe642=)

SNV
Germline

Chr2:71553130

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1705979

rs_550180529

3 SubmittersRCV000930776 RCV001271782

NM_201384.3(PLEC):c.6204G>A (p.Thr2068=)

SNV
Germline

Chr8:143923725

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA187614949

rs_979599396

3 SubmittersRCV000936384 RCV001499302 RCV004533596

NM_000023.4(SGCA):c.354G>A (p.Gln118=)

SNV
Germline

Chr17:50167988

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643777

rs_772233387

2 SubmittersRCV001444945

NM_021942.6(TRAPPC11):c.1208-4G>A

SNV
Germline

Chr4:183683971

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type R18
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3151848

rs_200618360

2 SubmittersRCV000952474 RCV004808984

NM_001101426.4(CRPPA):c.1120-10T>C

SNV
Germline

Chr7:16216207

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
Congenital Muscular Dystrophy, alpha-dystroglycan related
CRPPA-related disorder

Criteria Provided
Conflicting Classifications

CA4169373

rs_200836986

3 SubmittersRCV000954104 RCV001162650 RCV004533676

NM_001267550.2(TTN):c.67788A>G (p.Arg22596=)

SNV
Germline

Chr2:178579242

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA430260260

rs_1326950042

3 SubmittersRCV001502439 RCV002320185 RCV006269260

NM_012470.4(TNPO3):c.2545A>G (p.Thr849Ala)

SNV
Germline

Chr7:128970201

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4477851

rs_566110160

2 SubmittersRCV001426083

NM_201384.3(PLEC):c.7699C>A (p.Arg2567=)

SNV
Germline

Chr8:143922122

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA463533073

rs_782083663

2 SubmittersRCV003130095 RCV002548414

NM_001267550.2(TTN):c.44425-8A>C

SNV
Germline

Chr2:178625404

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA915942164

rs_1576608720

2 SubmittersRCV001448846 RCV001799016

NM_001267550.2(TTN):c.3730-5C>T

SNV
Germline

Chr2:178779467

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA915942202

rs_1574709001

2 SubmittersRCV001463604 RCV002337018

NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys)

SNV
Germline

Chr7:16406219

Conflicting classifications of pathogenicity

ISPD-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
Condition: not provided

Criteria Provided
Conflicting Classifications

CA367002564

rs_1472549168

5 SubmittersRCV000984962 RCV001004947 RCV002236058 RCV005630848

NM_024301.5(FKRP):c.1364C>T (p.Ala455Val)

SNV
Germline

Chr19:46756814

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I

No Assertion Criteria Provided

CA9532303

rs_28937903

1 SubmittersRCV000985158

NM_001267550.2(TTN):c.28174+1G>T

SNV
Germline

Chr2:178711061

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

No Assertion Criteria Provided

CA349439754

rs_1577824925

1 SubmittersRCV000985109

NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter)

SNV
Germline

Chr2:178712315

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA60965445

rs_769097909

2 SubmittersRCV000986942 RCV002549675

NM_000232.5(SGCB):c.753+5G>A

SNV
Germline

Chr4:52027963

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA96776231

rs_936193061

3 SubmittersRCV000987446 RCV004800651

NM_012470.4(TNPO3):c.1334C>T (p.Ala445Val)

SNV
Germline

Chr7:128992023

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA369231335

rs_1585339231

2 SubmittersRCV000987974

NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro)

SNV
Unknown

Chr9:131523054

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Single Submitter

CA5293942

rs_776988725

1 SubmittersRCV000988265

NM_015602.4(TOR1AIP1):c.961C>T (p.Arg321Ter)

SNV
Germline

Chr1:179914051

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1269054

rs_11581962

4 SubmittersRCV000991359 RCV003324806

NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg)

SNV
Germline

Chr6:152231428

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4054280

rs_145075161

6 SubmittersRCV000993151 RCV001858767 RCV005626286

NM_201384.3(PLEC):c.13006G>A (p.Val4336Ile)

SNV
Germline

Chr8:143916815

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4923924

rs_201163149

4 SubmittersRCV000992639 RCV001294986 RCV002549803

NM_001267550.2(TTN):c.105957G>A (p.Trp35319Ter)

SNV
Germline

Chr2:178530658

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349407357

rs_1575219172

1 SubmittersRCV002881463

NM_001267550.2(TTN):c.94773C>T (p.Gly31591=)

SNV
Germline

Chr2:178546655

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60972507

rs_897518524

2 SubmittersRCV000997352 RCV002550711

NM_001267550.2(TTN):c.84681T>C (p.Tyr28227=)

SNV
Germline

Chr2:178561451

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60985053

rs_373268234

3 SubmittersRCV000997372 RCV002067624 RCV002346205

NM_001267550.2(TTN):c.71307T>G (p.Thr23769=)

SNV
Germline

Chr2:178574825

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430257634

rs_1575793682

2 SubmittersRCV000997403 RCV005225194

NM_001267550.2(TTN):c.68904C>T (p.Ala22968=)

SNV
Germline

Chr2:178577431

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA61004825

rs_927987931

3 SubmittersRCV000997412 RCV002068733 RCV004030220

NM_001267550.2(TTN):c.65937G>A (p.Pro21979=)

SNV
Germline

Chr2:178582519

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991606

rs_765734959

3 SubmittersRCV000997422 RCV001481580 RCV004994176

NM_001267550.2(TTN):c.64453C>A (p.Arg21485=)

SNV
Germline

Chr2:178585291

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991900

rs_768345594

3 SubmittersRCV001133466 RCV001133467 RCV001133463 RCV001133464 RCV001133465 RCV002067626 RCV003307793

NM_001267550.2(TTN):c.59418T>C (p.Leu19806=)

SNV
Germline

Chr2:178592587

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430267200

rs_1576125620

2 SubmittersRCV000997440 RCV003769363

NM_001267550.2(TTN):c.50925T>C (p.Pro16975=)

SNV
Germline

Chr2:178611204

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430272295

rs_1576415390

2 SubmittersRCV000997461 RCV006556883

NM_001267550.2(TTN):c.39463+2T>C

SNV
Germline

Chr2:178651664

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349456197

rs_1576956162

2 SubmittersRCV000997481 RCV003769364

NM_001267550.2(TTN):c.36144C>A (p.Val12048=)

SNV
Germline

Chr2:178664712

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60974805

rs_879247400

2 SubmittersRCV000997494 RCV006556884

NM_001267550.2(TTN):c.32837A>T (p.Glu10946Val)

SNV
Germline

Chr2:178683261

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1998509

rs_763205133

1 SubmittersRCV001134018 RCV001134020 RCV001134019 RCV001134021 RCV001134017

NM_001267550.2(TTN):c.12837T>C (p.Asp4279=)

SNV
Germline

Chr2:178740396

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2002662

rs_762681376

3 SubmittersRCV000997548 RCV001482725 RCV003160142

NM_001267550.2(TTN):c.9576A>G (p.Glu3192=)

SNV
Germline

Chr2:178766508

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2004288

rs_771979221

2 SubmittersRCV000997586 RCV001485774

NM_001267550.2(TTN):c.1197G>A (p.Ser399=)

SNV
Germline

Chr2:178794970

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006124

rs_573255254

3 SubmittersRCV000997605 RCV001502768 RCV004994177

NM_001267550.2(TTN):c.670-2A>G

SNV
Germline

Chr2:178799733

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

rs_1574980606

1 SubmittersRCV006602204

NM_001130987.2(DYSF):c.1149+1G>C

SNV
Germline

Chr2:71520905

Pathogenic

Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347212236

rs_398123763

3 SubmittersRCV000997158 RCV005029554 RCV005601641

NM_012470.4(TNPO3):c.2058A>G (p.Thr686=)

SNV
Germline

Chr7:128978986

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA457577862

rs_1585330590

2 SubmittersRCV000998929 RCV001415095

NM_201384.3(PLEC):c.8262G>A (p.Val2754=)

SNV
Germline

Chr8:143921559

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA463532348

rs_1392212781

2 SubmittersRCV000999087 RCV005213431

NM_201384.3(PLEC):c.3774C>T (p.Ile1258=)

SNV
Germline

Chr8:143927318

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4926937

rs_200582060

2 SubmittersRCV000999096 RCV003769372

NM_001077365.2(POMT1):c.427+8C>T

SNV
Germline

Chr9:131507522

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA200779428

rs_201727519

2 SubmittersRCV000999248 RCV003769373

NM_013382.7(POMT2):c.661T>A (p.Phe221Ile)

SNV
Germline

Chr14:77301245

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Conflicting Classifications

CA7286112

rs_746803006

4 SubmittersRCV000995222 RCV001037272 RCV004776299

NM_003673.4(TCAP):c.341A>G (p.Gln114Arg)

SNV
Germline

Chr17:39665946

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2G
Hypertrophic cardiomyopathy 25
Cardiovascular phenotype
Hypertrophic cardiomyopathy 25
Primary familial hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA399305254

rs_1355624192

5 SubmittersRCV000996530 RCV002236004 RCV002481778 RCV004678891 RCV005225190

NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter)

SNV
Germline

Chr2:178528300

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349401258

rs_1575185742

2 SubmittersRCV001004968 RCV003769409

NM_001267550.2(TTN):c.35041G>T (p.Glu11681Ter)

SNV
Germline

Chr2:178672157

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349518359

rs_557526069

1 SubmittersRCV001004969

NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala)

SNV
Germline

Chr2:71515713

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA347208767

rs_1573658295

3 SubmittersRCV001004963 RCV003736956 RCV006250903

NM_001130987.2(DYSF):c.1615T>C (p.Cys539Arg)

SNV
Germline

Chr2:71551079

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA347217368

rs_1573929182

2 SubmittersRCV001004943

NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn)

SNV
Germline

Chr2:71613375

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA1707005

rs_767788624

2 SubmittersRCV001004986 RCV002551719

NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter)

SNV
Germline

Chr2:71658944

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347219737

rs_1573009747

3 SubmittersRCV001004961 RCV001862745 RCV005864540

NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser)

SNV
Germline

Chr2:71669689

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA347223875

rs_1336670524

2 SubmittersRCV001004987 RCV001860571

NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu)

SNV
Germline

Chr2:71679093

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Conflicting Classifications

CA347226288

rs_1573176526

3 SubmittersRCV001004960 RCV003574818

NM_000232.5(SGCB):c.278G>C (p.Gly93Ala)

SNV
Germline

Chr4:52029829

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA356877477

rs_1018529334

2 SubmittersRCV001004989

NM_032237.5(POMK):c.136C>T (p.Arg46Ter)

SNV
Germline

Chr8:43103684

Conflicting classifications of pathogenicity

Limb-girdle muscular dystrophy due to POMK deficiency
Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4736207

rs_202036744

5 SubmittersRCV001004957 RCV001862744 RCV005436456

NM_213599.3(ANO5):c.1630+2T>G

SNV
Germline

Chr11:22259743

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA379922460

rs_1590300702

2 SubmittersRCV001004964 RCV001862746

NM_213599.3(ANO5):c.2411G>C (p.Cys804Ser)

SNV
Germline

Chr11:22274744

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379924469

rs_1233836740

3 SubmittersRCV001004953 RCV001862743 RCV004792611

NM_000231.3(SGCG):c.505+2T>C

SNV
Germline

Chr13:23279480

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA387504251

rs_1593216248

1 SubmittersRCV001004965

NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter)

SNV
Germline

Chr15:42394332

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391999075

rs_1595828703

1 SubmittersRCV001004982

NM_000070.3(CAPN3):c.1193+6T>A

SNV
Germline

Chr15:42396883

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA658820649

rs_1555421532

5 SubmittersRCV001004974 RCV001310746 RCV003235444

NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter)

SNV
Germline

Chr15:42408307

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA392000870

rs_1595844413

4 SubmittersRCV001004976 RCV003461311

NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter)

SNV
Germline

Chr15:42410615

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA392001834

rs_1595847257

2 SubmittersRCV001004959

NM_003673.4(TCAP):c.75G>A (p.Trp25Ter)

SNV
Germline

Chr17:39665434

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2G
Hypertrophic cardiomyopathy 25
Primary familial hypertrophic cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA8532828

rs_778851652

2 SubmittersRCV001004970 RCV002549264

NM_000023.4(SGCA):c.246C>A (p.Ser82Arg)

SNV
Germline

Chr17:50167670

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2D
Abnormality of the musculature
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA400177611

rs_1598265282

6 SubmittersRCV001004937 RCV001814253 RCV004761861 RCV005236525

NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter)

SNV
Germline

Chr2:178580008

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349424095

rs_1200988060

7 SubmittersRCV001007836 RCV001059927 RCV002281145 RCV004764947 RCV005502967

NM_001267550.2(TTN):c.2370+2T>C

SNV
Germline

Chr2:178785846

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

No Assertion Criteria Provided

CA349499428

rs_1574817395

1 SubmittersRCV001007835

NM_001267550.2(TTN):c.56495G>A (p.Trp18832Ter)

SNV
Germline

Chr2:178599298

Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349529701

rs_1576247054

3 SubmittersRCV001008693 RCV002434395 RCV003769413

NM_001267550.2(TTN):c.8286C>G (p.Tyr2762Ter)

SNV
Germline

Chr2:178770506

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349677728

rs_1574570125

2 SubmittersRCV001008011 RCV001299915

NM_001267550.2(TTN):c.72088A>T (p.Lys24030Ter)

SNV
Germline

Chr2:178574044

Likely pathogenic

Hypertrophic cardiomyopathy 9
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349648618

rs_1709195189

3 SubmittersRCV001030449 RCV002327242 RCV003768930

NM_058246.4(DNAJB6):c.236G>A (p.Gly79Asp)

SNV
Unknown

Chr7:157367373

Likely pathogenic

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Single Submitter

CA370166023

rs_575938861

1 SubmittersRCV001030757

NM_201384.3(PLEC):c.6079C>T (p.Arg2027Ter)

SNV
Germline

Chr8:143923850

Pathogenic

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA4926116

rs_368550010

2 SubmittersRCV001030797 RCV005213448

NM_015602.4(TOR1AIP1):c.763C>T (p.Gln255Ter)

SNV
Germline

Chr1:179903989

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Single Submitter

CA343566595

rs_1648544786

1 SubmittersRCV001069849

NM_017739.4(POMGNT1):c.1814G>T (p.Arg605Leu)

SNV
Germline

Chr1:46189539

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340171027

rs_267606962

1 SubmittersRCV001047810

NM_001267550.2(TTN):c.106585A>C (p.Thr35529Pro)

SNV
Germline

Chr2:178529166

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1985067

rs_372116188

2 SubmittersRCV002418529 RCV001062866

NM_001267550.2(TTN):c.103455A>T (p.Glu34485Asp)

SNV
Germline

Chr2:178533160

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985600

rs_746863482

2 SubmittersRCV001035354 RCV001799028

NM_001267550.2(TTN):c.100135G>T (p.Glu33379Ter)

SNV
Germline

Chr2:178536974

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349426692

rs_1691881913

1 SubmittersRCV001037352

NM_001267550.2(TTN):c.92659C>T (p.Gln30887Ter)

SNV
Germline

Chr2:178548967

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349492067

rs_1305222903

3 SubmittersRCV001063159 RCV001843956 RCV002365745

NM_001267550.2(TTN):c.91306C>T (p.Arg30436Trp)

SNV
Germline

Chr2:178551225

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1987651

rs_773600127

3 SubmittersRCV001043496 RCV002489580 RCV003486957

NM_001267550.2(TTN):c.90085G>T (p.Glu30029Ter)

SNV
Germline

Chr2:178552815

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349513908

rs_1699948037

1 SubmittersRCV001054636

NM_001267550.2(TTN):c.89658C>A (p.Tyr29886Ter)

SNV
Germline

Chr2:178553242

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349517068

rs_1700085960

2 SubmittersRCV001061053 RCV006450859

NM_001267550.2(TTN):c.86966G>A (p.Trp28989Ter)

SNV
Germline

Chr2:178558493

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349540188

rs_1702355636

1 SubmittersRCV001061396

NM_001267550.2(TTN):c.86889G>A (p.Trp28963Ter)

SNV
Germline

Chr2:178558570

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349540667

rs_1702376984

1 SubmittersRCV001071063

NM_001267550.2(TTN):c.86528T>G (p.Leu28843Ter)

SNV
Germline

Chr2:178559604

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA1988487

rs_752378132

1 SubmittersRCV001051503

NM_001267550.2(TTN):c.85267C>T (p.Arg28423Ter)

SNV
Germline

Chr2:178560865

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1988673

rs_769664554

5 SubmittersRCV001058528 RCV004994219 RCV004764951 RCV004735949

NM_001267550.2(TTN):c.85150C>T (p.Arg28384Ter)

SNV
Germline

Chr2:178560982

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349555434

rs_1703437679

4 SubmittersRCV001071072 RCV002355102 RCV003232208 RCV006270460

NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter)

SNV
Germline

Chr2:178562716

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349567655

rs_886055237

7 SubmittersRCV001072067 RCV002274136 RCV003160596 RCV003991039 RCV006556981

NM_001267550.2(TTN):c.80547T>A (p.Tyr26849Ter)

SNV
Germline

Chr2:178565585

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349588318

rs_1575673206

1 SubmittersRCV001060761

NM_001267550.2(TTN):c.75231T>A (p.Tyr25077Ter)

SNV
Germline

Chr2:178570901

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349627765

rs_750699540

1 SubmittersRCV001070724

NM_001267550.2(TTN):c.74490G>A (p.Trp24830Ter)

SNV
Germline

Chr2:178571642

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349633586

rs_1708235406

1 SubmittersRCV001064281

NM_001267550.2(TTN):c.73792G>T (p.Glu24598Ter)

SNV
Germline

Chr2:178572340

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349636833

rs_1708526179

1 SubmittersRCV001062394

NM_001267550.2(TTN):c.67576G>T (p.Glu22526Ter)

SNV
Germline

Chr2:178579621

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349423453

rs_2047236705

1 SubmittersRCV001057099

NM_001267550.2(TTN):c.64216A>T (p.Arg21406Ter)

SNV
Germline

Chr2:178586685

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349442654

rs_2049052530

1 SubmittersRCV001068229

NM_001267550.2(TTN):c.61369G>T (p.Glu20457Ter)

SNV
Germline

Chr2:178590356

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349473197

rs_2049944547

1 SubmittersRCV001065928

NM_001267550.2(TTN):c.60579G>A (p.Trp20193Ter)

SNV
Germline

Chr2:178591146

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349483811

rs_2050116026

3 SubmittersRCV001065665 RCV002320331 RCV005056850

NM_001267550.2(TTN):c.59841C>A (p.Tyr19947Ter)

SNV
Germline

Chr2:178592063

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349489517

rs_1413760246

1 SubmittersRCV001036635

NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter)

SNV
Germline

Chr2:178595636

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349515124

rs_2051361827

5 SubmittersRCV001040881 RCV003222202 RCV003989630

NM_001267550.2(TTN):c.55796C>A (p.Ser18599Ter)

SNV
Germline

Chr2:178601108

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349537724

rs_2053315643

1 SubmittersRCV001051218

NM_001267550.2(TTN):c.55036A>T (p.Arg18346Ter)

SNV
Germline

Chr2:178602366

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349545583

rs_2053680009

1 SubmittersRCV001044795

NM_001267550.2(TTN):c.54481C>T (p.Gln18161Ter)

SNV
Germline

Chr2:178604206

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349552314

rs_2054207747

1 SubmittersRCV001059312

NM_001267550.2(TTN):c.53374G>T (p.Gly17792Ter)

SNV
Germline

Chr2:178607228

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349564708

rs_2055101555

2 SubmittersRCV001046507 RCV005762153

NM_001267550.2(TTN):c.51958C>T (p.Gln17320Ter)

SNV
Germline

Chr2:178609352

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349578797

rs_2055753321

2 SubmittersRCV001049460 RCV001560903

NM_001267550.2(TTN):c.50358T>A (p.Tyr16786Ter)

SNV
Germline

Chr2:178611951

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349596708

rs_72677249

2 SubmittersRCV001058854 RCV002445307

NM_001267550.2(TTN):c.50095C>T (p.Gln16699Ter)

SNV
Germline

Chr2:178612430

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349599291

rs_2056504499

3 SubmittersRCV001069409 RCV003480949

NM_001267550.2(TTN):c.49758T>G (p.Tyr16586Ter)

SNV
Germline

Chr2:178612963

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349601160

rs_72677247

1 SubmittersRCV001039259

NM_001267550.2(TTN):c.46459C>T (p.Gln15487Ter)

SNV
Germline

Chr2:178619858

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349626130

rs_2058001839

1 SubmittersRCV001041136

NM_001267550.2(TTN):c.46272C>A (p.Tyr15424Ter)

SNV
Germline

Chr2:178620249

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA60993040

rs_879139686

4 SubmittersRCV001044590 RCV004017779 RCV005502983 RCV006255189

NM_001267550.2(TTN):c.42949C>T (p.Arg14317Ter)

SNV
Germline

Chr2:178633324

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349653103

rs_376799532

3 SubmittersRCV001043455 RCV004764948

NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter)

SNV
Germline

Chr2:178634576

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349655506

rs_2060187635

6 SubmittersRCV001068103 RCV001594408 RCV002508289 RCV003228802 RCV003486960

NM_001267550.2(TTN):c.32092C>T (p.Arg10698Ter)

SNV
Germline

Chr2:178689056

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive titinopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349553937

rs_1396898734

4 SubmittersRCV001048499 RCV004764949 RCV006556964 RCV005633838

NM_001267550.2(TTN):c.1128G>A (p.Trp376Ter)

SNV
Germline

Chr2:178795039

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349518094

rs_932770906

3 SubmittersRCV001068045 RCV004783897 RCV004764954

NM_001130987.2(DYSF):c.991G>C (p.Gly331Arg)

SNV
Germline

Chr2:71517028

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA49761605

rs_121908963

2 SubmittersRCV001038919 RCV006252476

NM_001130987.2(DYSF):c.1965C>A (p.Tyr655Ter)

SNV
Germline

Chr2:71553169

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347218736

rs_759841019

2 SubmittersRCV001038949 RCV005029589

NM_001130987.2(DYSF):c.3943A>G (p.Arg1315Gly)

SNV
Germline

Chr2:71602791

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706803

rs_535831045

4 SubmittersRCV001056589 RCV001272841 RCV003145310 RCV005809421

NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter)

SNV
Germline

Chr2:71612667

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA49779889

rs_971134497

4 SubmittersRCV001043809 RCV001827266 RCV004570145 RCV006437000

NM_001130987.2(DYSF):c.4455C>G (p.Ile1485Met)

SNV
Germline

Chr2:71613401

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1707009

rs_758226677

3 SubmittersRCV001043044 RCV001277417 RCV002551526

NM_001130987.2(DYSF):c.5206C>T (p.Arg1736Cys)

SNV
Germline

Chr2:71665193

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1707288

rs_758206608

3 SubmittersRCV001035975 RCV001827215 RCV005550093

NM_001130987.2(DYSF):c.5227C>T (p.Leu1743Phe)

SNV
Germline

Chr2:71665214

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707296

rs_575920691

3 SubmittersRCV001068212 RCV001274851 RCV006279347

NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter)

SNV
Germline

Chr2:71665298

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347221184

rs_762398889

3 SubmittersRCV001058448 RCV003467792 RCV003152748

NM_001130987.2(DYSF):c.6125G>A (p.Gly2042Asp)

SNV
Germline

Chr2:71681062

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347226819

rs_1395588065

2 SubmittersRCV001064810 RCV001836103

NM_004393.6(DAG1):c.2116A>G (p.Thr706Ala)

SNV
Germline

Chr3:49532627

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2399209

rs_138386617

2 SubmittersRCV001043663 RCV004031326

NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys)

SNV
Germline

Chr3:49722135

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2405437

rs_746357591

3 SubmittersRCV001054940 RCV003106106

NM_021971.4(GMPPB):c.727C>T (p.Arg243Trp)

SNV
Germline

Chr3:49722272

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2405465

rs_771028755

2 SubmittersRCV001036720 RCV002251546

NM_000232.5(SGCB):c.2T>C (p.Met1Thr)

SNV
Germline

Chr4:52038258

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA356878730

rs_1737457235

2 SubmittersRCV001069412

NM_201384.3(PLEC):c.11602G>A (p.Asp3868Asn)

SNV
Germline

Chr8:143918219

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924298

rs_782028739

4 SubmittersRCV003132190 RCV001059180 RCV005463242

NM_201384.3(PLEC):c.7742G>A (p.Arg2581Gln)

SNV
Germline

Chr8:143922079

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925527

rs_560763455

2 SubmittersRCV001045836 RCV005394676

NM_201384.3(PLEC):c.4652G>A (p.Arg1551His)

SNV
Germline

Chr8:143925277

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided
Inborn genetic diseases
6 conditions

Criteria Provided
Conflicting Classifications

CA4926592

rs_374991369

5 SubmittersRCV001067836 RCV001547383 RCV003160557 RCV005394719

NM_201384.3(PLEC):c.3683G>A (p.Arg1228Gln)

SNV
Germline

Chr8:143927483

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926987

rs_201347953

2 SubmittersRCV001071846 RCV003132217

NM_201384.3(PLEC):c.1304C>T (p.Ala435Val)

SNV
Germline

Chr8:143933311

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4928023

rs_782509734

3 SubmittersRCV001040786 RCV001551680

NM_032237.5(POMK):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr8:43103558

Pathogenic/Likely pathogenic

Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4736164

rs_202006335

2 SubmittersRCV001053386 RCV003128741

NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)

SNV
Germline

Chr9:105607937

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5170477

rs_377417974

7 SubmittersRCV001044487 RCV002479277 RCV003473630 RCV004994200 RCV005633833

NM_000231.3(SGCG):c.167G>A (p.Trp56Ter)

SNV
Germline

Chr13:23203861

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA387502790

rs_1351510337

2 SubmittersRCV001061556

NM_000231.3(SGCG):c.496C>T (p.Arg166Ter)

SNV
Germline

Chr13:23279469

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C
Abnormality of the musculature

Criteria Provided
Multiple Submitters
No Conflicts

CA387504230

rs_1881219252

6 SubmittersRCV001065557 RCV001814266

NM_000231.3(SGCG):c.533C>G (p.Ser178Ter)

SNV
Germline

Chr13:23295442

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA387504315

rs_1011397929

2 SubmittersRCV001066887

NM_000231.3(SGCG):c.649A>T (p.Lys217Ter)

SNV
Germline

Chr13:23320707

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA387502742

rs_1325816562

1 SubmittersRCV001041822

NM_013382.7(POMT2):c.1433A>G (p.His478Arg)

SNV
Germline

Chr14:77285532

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Conflicting Classifications

CA7285856

rs_765346043

2 SubmittersRCV001054670 RCV003473654

NM_013382.7(POMT2):c.796G>A (p.Gly266Arg)

SNV
Germline

Chr14:77301110

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7286090

rs_761773211

3 SubmittersRCV001035890 RCV003473613 RCV006455347

NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr)

SNV
Germline

Chr15:42386184

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA269833695

rs_946415346

5 SubmittersRCV001068857 RCV003479277 RCV005633869

NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter)

SNV
Germline

Chr15:42387773

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA391997788

rs_2053442769

2 SubmittersRCV001046209

NM_000070.3(CAPN3):c.608C>G (p.Ala203Gly)

SNV
Germline

Chr15:42387862

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391997981

rs_763719290

2 SubmittersRCV001045585

NM_000070.3(CAPN3):c.1525G>T (p.Val509Phe)

SNV
Germline

Chr15:42402124

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA392000030

rs_1409503203

2 SubmittersRCV001070692 RCV003462616

NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter)

SNV
Germline

Chr15:42410474

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA392001702

rs_774048414

4 SubmittersRCV001053864 RCV003462561 RCV005012498

NM_000023.4(SGCA):c.905T>G (p.Leu302Arg)

SNV
Germline

Chr17:50170300

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400182212

rs_760989961

1 SubmittersRCV001062845

NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)

SNV
Germline

Chr19:46755773

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309099247

rs_936866997

6 SubmittersRCV001063677 RCV001336095 RCV001275309 RCV002320323 RCV002462309

NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro)

SNV
Germline

Chr19:46756586

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Conflicting Classifications

CA309099778

rs_140217866

3 SubmittersRCV001056582 RCV001832510 RCV005021388

NM_001267550.2(TTN):c.57544+1G>A

SNV
Germline

Chr2:178597537

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349519449

rs_2052045274

1 SubmittersRCV001047758

NM_001267550.2(TTN):c.39463+1G>C

SNV
Germline

Chr2:178651665

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349456203

rs_1553770003

1 SubmittersRCV001068199

NM_001267550.2(TTN):c.33910+1G>T

SNV
Germline

Chr2:178678413

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60982643

rs_893407745

1 SubmittersRCV001055153

NM_001267550.2(TTN):c.670-1G>A

SNV
Germline

Chr2:178799732

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349524492

rs_1054895701

1 SubmittersRCV001064549

NM_001267550.2(TTN):c.56348-1G>A

SNV
Germline

Chr2:178599446

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349532846

rs_2052685102

1 SubmittersRCV001064317

NM_001267550.2(TTN):c.54811+1G>A

SNV
Germline

Chr2:178603875

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349549442

rs_1205836993

6 SubmittersRCV001053576 RCV001784605 RCV002436611 RCV003486959 RCV006455379

NM_001130987.2(DYSF):c.1002+4A>G

SNV
Germline

Chr2:71517043

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA49761619

rs_905322985

4 SubmittersRCV001072066 RCV001828532 RCV002480447 RCV003462626

NM_001130987.2(DYSF):c.1003-3C>A

SNV
Germline

Chr2:71520175

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Condition: not provided

Reviewed By Expert Panel

CA426699920

rs_2087101244

4 SubmittersRCV001064001 RCV006252477 RCV005633864

NM_000232.5(SGCB):c.33+1G>C

SNV
Germline

Chr4:52038226

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Single Submitter

CA356878666

rs_1553940957

2 SubmittersRCV001039228

NM_001267550.2(TTN):c.100766-2A>T

SNV
Germline

Chr2:178535851

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349424663

rs_1364779690

2 SubmittersRCV001039934 RCV004726813

NM_001267550.2(TTN):c.32011+1G>T

SNV
Germline

Chr2:178689289

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349554647

rs_1471534246

4 SubmittersRCV001065061 RCV002223983

NM_015602.4(TOR1AIP1):c.797-2A>T

SNV
Germline

Chr1:179907821

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Single Submitter

CA1268958

rs_756798409

1 SubmittersRCV001045706

NM_001267550.2(TTN):c.55432+1G>A

SNV
Germline

Chr2:178601657

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349541402

rs_2053485503

1 SubmittersRCV001069218

NM_001267550.2(TTN):c.32887+1G>A

SNV
Germline

Chr2:178683210

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA1998504

rs_546105899

1 SubmittersRCV001042198

NM_001267550.2(TTN):c.32392+1G>A

SNV
Germline

Chr2:178685517

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349549069

rs_1424314036

3 SubmittersRCV001060367 RCV002223979

NM_001130987.2(DYSF):c.4387+2T>C

SNV
Germline

Chr2:71612808

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA1706981

rs_759939755

3 SubmittersRCV001040069 RCV003467720 RCV005036314

NM_004393.6(DAG1):c.285+1G>A

SNV
Germline

Chr3:49510820

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Single Submitter

CA352801498

rs_2050744878

1 SubmittersRCV001045353

NM_201384.3(PLEC):c.2613-7C>G

SNV
Germline

Chr8:143930069

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA586158455

rs_11990994

2 SubmittersRCV001050189 RCV005633841

NM_000231.3(SGCG):c.703-1G>C

SNV
Germline

Chr13:23324367

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA387503468

rs_1883152345

2 SubmittersRCV001037350 RCV004998583

NM_000023.4(SGCA):c.157+1G>A

SNV
Germline

Chr17:50167488

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA400177026

rs_113109898

4 SubmittersRCV001050871

NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)

SNV
Germline

Chr2:71526331

Conflicting classifications of pathogenicity

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA49771569

rs_778673716

7 SubmittersRCV001089584 RCV001862659 RCV003339470 RCV005614489

NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)

SNV
Germline

Chr1:46192396

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76

Criteria Provided
Multiple Submitters
No Conflicts

CA833406

rs_150877512

7 SubmittersRCV001092676 RCV001376853 RCV001175511 RCV001810495 RCV002554853 RCV005021438

NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg)

SNV
Germline

Chr2:178562532

Conflicting classifications of pathogenicity

Condition: not provided
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988898

rs_374119634

6 SubmittersRCV001092230 RCV001135214 RCV001135216 RCV001135213 RCV001135215 RCV001135217 RCV002348553

NM_001267550.2(TTN):c.51437-1G>C

SNV
Germline

Chr2:178609987

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349585751

rs_2055916646

3 SubmittersRCV001090563 RCV006556999

NM_001267550.2(TTN):c.39625+1G>T

SNV
Germline

Chr2:178651242

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

rs_970681023

1 SubmittersRCV006593439

NM_001267550.2(TTN):c.33064C>T (p.Arg11022Ter)

SNV
Germline

Chr2:178682727

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349540964

rs_747806875

2 SubmittersRCV001091080 RCV003769018

NM_001101426.4(CRPPA):c.1354T>C (p.Ter452Arg)

SNV
Germline

Chr7:16091697

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Conflicting Classifications

CA367000232

rs_186882839

3 SubmittersRCV001092555 RCV002240645

NM_001267550.2(TTN):c.7057+1G>A

SNV
Germline

Chr2:178774206

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2004914

rs_763909866

3 SubmittersRCV001095649 RCV001556481 RCV002554880

NM_017739.4(POMGNT1):c.*221G>A

SNV
Germline

Chr1:46189049

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA21910130

rs_181362801

2 SubmittersRCV001101456 RCV001101455 RCV001555059

NM_017739.4(POMGNT1):c.*34G>A

SNV
Germline

Chr1:46189236

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Condition: not provided
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA833170

rs_200540049

4 SubmittersRCV001095993 RCV001101459 RCV003456471 RCV004545053

NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg)

SNV
Germline

Chr1:46189464

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA833208

rs_747723242

5 SubmittersRCV001095994 RCV001095995 RCV001277591 RCV002069619 RCV003132226 RCV003890235

NM_017739.4(POMGNT1):c.1878C>T (p.Val626=)

SNV
Germline

Chr1:46189475

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA1139656118

rs_1657570765

2 SubmittersRCV001095996 RCV001095997 RCV002069620

NM_017739.4(POMGNT1):c.752-15G>A

SNV
Germline

Chr1:46194416

Conflicting classifications of pathogenicity

Congenital Muscular Dystrophy, alpha-dystroglycan related
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA833615

rs_368317059

2 SubmittersRCV001096115 RCV001096116 RCV001440335

NM_017739.4(POMGNT1):c.121-6C>A

SNV
Germline

Chr1:46197090

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA1139656113

rs_558052679

2 SubmittersRCV001096215 RCV001096214 RCV001873465

NM_213599.3(ANO5):c.627A>G (p.Pro209=)

SNV
Germline

Chr11:22227565

Conflicting classifications of pathogenicity

ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA5922960

rs_761949902

2 SubmittersRCV001105478 RCV003769095

NM_000231.3(SGCG):c.259T>C (p.Leu87=)

SNV
Germline

Chr13:23234674

Conflicting classifications of pathogenicity

Sarcoglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA482904374

rs_1174403532

2 SubmittersRCV001110406 RCV002558104

NM_013382.7(POMT2):c.1692G>A (p.Thr564=)

SNV
Germline

Chr14:77280425

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
POMT2-related disorder

Criteria Provided
Conflicting Classifications

CA7285757

rs_183828175

3 SubmittersRCV001118999 RCV001419327 RCV003906223

NM_000070.3(CAPN3):c.1002C>T (p.His334=)

SNV
Germline

Chr15:42392695

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511212

rs_374833797

3 SubmittersRCV001119213

NM_000070.3(CAPN3):c.1227A>T (p.Thr409=)

SNV
Germline

Chr15:42399525

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA489879439

rs_111806046

2 SubmittersRCV001121212

NM_000070.3(CAPN3):c.1902G>A (p.Lys634=)

SNV
Germline

Chr15:42408312

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA489885529

rs_2054086848

2 SubmittersRCV001116289

NM_000070.3(CAPN3):c.2051-8C>T

SNV
Germline

Chr15:42409923

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA7511697

rs_754375124

2 SubmittersRCV001117728

NM_003673.4(TCAP):c.*54G>A

SNV
Germline

Chr17:39666163

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 25
Autosomal recessive limb-girdle muscular dystrophy type 2G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290434287

rs_45592941

2 SubmittersRCV001123779 RCV001123780 RCV001567573

NM_003673.4(TCAP):c.*395C>T

SNV
Germline

Chr17:39666504

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 25
Autosomal recessive limb-girdle muscular dystrophy type 2G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290434439

rs_45540732

2 SubmittersRCV001126434 RCV001126433 RCV002264198

NM_000023.4(SGCA):c.958C>T (p.Leu320=)

SNV
Germline

Chr17:50170641

Conflicting classifications of pathogenicity

Sarcoglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA500829814

rs_1905303889

2 SubmittersRCV001126444 RCV002558245

NM_001267550.2(TTN):c.107181C>G (p.Gly35727=)

SNV
Germline

Chr2:178528570

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60950133

rs_762859509

4 SubmittersRCV001134477 RCV001134479 RCV001134478 RCV001134480 RCV001134476 RCV001531496 RCV002070571 RCV004032298

NM_001267550.2(TTN):c.105520C>T (p.Arg35174Cys)

SNV
Germline

Chr2:178531095

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985240

rs_778207634

3 SubmittersRCV001134619 RCV001134615 RCV001134616 RCV001134617 RCV001134618 RCV001231659 RCV001551017

NM_001267550.2(TTN):c.104890A>T (p.Asn34964Tyr)

SNV
Germline

Chr2:178531725

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985339

rs_779363624

1 SubmittersRCV001133452 RCV001134945 RCV001134947 RCV001134944 RCV001134946

NM_001267550.2(TTN):c.104045G>A (p.Arg34682His)

SNV
Germline

Chr2:178532570

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1985494

rs_190398670

2 SubmittersRCV001130174 RCV001130175 RCV001130171 RCV001130172 RCV001130173 RCV002556830

NM_001267550.2(TTN):c.102790C>T (p.Leu34264Phe)

SNV
Germline

Chr2:178533825

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1985705

rs_773984912

6 SubmittersRCV001134096 RCV001134097 RCV001134098 RCV001134099 RCV001134095 RCV001170294 RCV001779121 RCV001326846

NM_001267550.2(TTN):c.101853A>C (p.Arg33951Ser)

SNV
Germline

Chr2:178534762

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985832

rs_761821275

2 SubmittersRCV001135827 RCV001135828 RCV001135825 RCV001135824 RCV001135826 RCV003142072

NM_001267550.2(TTN):c.95824G>A (p.Val31942Ile)

SNV
Germline

Chr2:178544405

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1986869

rs_757627281

1 SubmittersRCV001135722 RCV001135718 RCV001135719 RCV001135720 RCV001135721

NM_001267550.2(TTN):c.95490A>G (p.Lys31830=)

SNV
Germline

Chr2:178545620

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430241821

rs_1696713042

2 SubmittersRCV001128837 RCV001128835 RCV001128836 RCV001135829 RCV001135830 RCV006557037

NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=)

SNV
Germline

Chr2:178548338

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430243311

rs_1280272876

4 SubmittersRCV001133150 RCV001133149 RCV001133148 RCV001134628 RCV001134627 RCV001288141 RCV002365807 RCV002556856

NM_001267550.2(TTN):c.91343G>A (p.Arg30448His)

SNV
Germline

Chr2:178551188

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1987643

rs_374474227

5 SubmittersRCV001135359 RCV001135355 RCV001135356 RCV001135357 RCV001135358 RCV002473203 RCV003150387

NM_001267550.2(TTN):c.89410G>A (p.Val29804Ile)

SNV
Germline

Chr2:178553595

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1987933

rs_747784568

1 SubmittersRCV001135724 RCV001135726 RCV001134230 RCV001135723 RCV001135725

NM_001267550.2(TTN):c.88047G>A (p.Lys29349=)

SNV
Germline

Chr2:178557107

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988209

rs_748102856

3 SubmittersRCV001136152 RCV001136153 RCV001136154 RCV001136155 RCV001136156 RCV004994262 RCV006266582

NM_001267550.2(TTN):c.85003T>G (p.Ser28335Ala)

SNV
Germline

Chr2:178561129

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1988710

rs_147895770

2 SubmittersRCV001132447 RCV001132445 RCV001132446 RCV001133353 RCV001133354 RCV003317435

NM_001267550.2(TTN):c.84682C>T (p.Arg28228Cys)

SNV
Germline

Chr2:178561450

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1988748

rs_776756769

3 SubmittersRCV001129840 RCV001129841 RCV001132530 RCV001132531 RCV001132529 RCV002348572 RCV004590103

NM_001267550.2(TTN):c.82241G>A (p.Arg27414Gln)

SNV
Germline

Chr2:178563891

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1989102

rs_763336230

3 SubmittersRCV001134370 RCV001134367 RCV001134368 RCV001134369 RCV001134371 RCV001548612 RCV002348574

NM_001267550.2(TTN):c.78382C>T (p.Arg26128Cys)

SNV
Germline

Chr2:178567750

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1989613

rs_373530641

3 SubmittersRCV001129927 RCV001129928 RCV001129929 RCV001130630 RCV001130631 RCV005405495 RCV005423852

NM_001267550.2(TTN):c.75489C>T (p.Thr25163=)

SNV
Germline

Chr2:178570643

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430254959

rs_1234238096

2 SubmittersRCV001128738 RCV001128740 RCV001128741 RCV001128742 RCV001128739 RCV001429357

NM_001267550.2(TTN):c.75366G>A (p.Val25122=)

SNV
Germline

Chr2:178570766

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1990061

rs_750424357

3 SubmittersRCV001134372 RCV001134373 RCV001134374 RCV001134375 RCV001134376 RCV002327407 RCV002556874

NM_001267550.2(TTN):c.73491T>C (p.Tyr24497=)

SNV
Germline

Chr2:178572641

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1990363

rs_545377175

7 SubmittersRCV001131873 RCV001132857 RCV001132855 RCV001132856 RCV001132858 RCV001702879 RCV002327406 RCV001439876 RCV001700975

NM_001267550.2(TTN):c.72226T>G (p.Leu24076Val)

SNV
Germline

Chr2:178573906

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1990530

rs_202098308

7 SubmittersRCV001129506 RCV001129505 RCV001129507 RCV001136492 RCV001136491 RCV001532418 RCV002327404 RCV005863358

NM_001267550.2(TTN):c.72149A>G (p.Glu24050Gly)

SNV
Germline

Chr2:178573983

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990539

rs_771209223

2 SubmittersRCV001132246 RCV001132242 RCV001132243 RCV001132244 RCV001132245 RCV003142064

NM_001267550.2(TTN):c.71553T>A (p.Leu23851=)

SNV
Germline

Chr2:178574579

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1990614

rs_373388052

2 SubmittersRCV001133359 RCV001133361 RCV001133360 RCV001133362 RCV001133363 RCV002070561

NM_001267550.2(TTN):c.70579G>A (p.Val23527Ile)

SNV
Germline

Chr2:178575553

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990761

rs_542004766

2 SubmittersRCV001130760 RCV001130757 RCV001130758 RCV001130759 RCV001130761 RCV005633902

NM_001267550.2(TTN):c.69458A>C (p.Lys23153Thr)

SNV
Germline

Chr2:178576786

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA61004208

rs_879119970

3 SubmittersRCV001133984 RCV001131022 RCV001131023 RCV001133985 RCV001133983 RCV005405496 RCV003142061

NM_001267550.2(TTN):c.66580G>A (p.Glu22194Lys)

SNV
Germline

Chr2:178581688

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1991474

rs_768049902

2 SubmittersRCV001129189 RCV001129191 RCV001129190 RCV001131874 RCV001131875 RCV001293207

NM_001267550.2(TTN):c.66552C>T (p.Gly22184=)

SNV
Germline

Chr2:178581716

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1991484

rs_146502705

2 SubmittersRCV001132859 RCV001131876 RCV001132860 RCV001132861 RCV001132862 RCV001414317

NM_001267550.2(TTN):c.64047C>T (p.Gly21349=)

SNV
Germline

Chr2:178587164

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991978

rs_775357802

3 SubmittersRCV001133600 RCV001133601 RCV001135091 RCV001135092 RCV001133599 RCV002070562 RCV003163291

NM_001267550.2(TTN):c.62651G>T (p.Cys20884Phe)

SNV
Germline

Chr2:178589074

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1992197

rs_773806020

5 SubmittersRCV001130541 RCV001135621 RCV001135623 RCV001135622 RCV001135624 RCV002451335 RCV001811669

NM_001267550.2(TTN):c.60033A>C (p.Gly20011=)

SNV
Germline

Chr2:178591786

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992561

rs_761455000

3 SubmittersRCV001132005 RCV001132007 RCV001132006 RCV001132008 RCV001132009 RCV003769250 RCV005286316

NM_001267550.2(TTN):c.55619T>C (p.Val18540Ala)

SNV
Germline

Chr2:178601378

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993423

rs_779623773

1 SubmittersRCV001130553 RCV001130552 RCV001131278 RCV001131277 RCV001130554

NM_001267550.2(TTN):c.55291G>A (p.Glu18431Lys)

SNV
Germline

Chr2:178601893

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1993494

rs_756341923

3 SubmittersRCV001128749 RCV001128750 RCV001135755 RCV001128748 RCV001135756 RCV003142054 RCV004538352

NM_001267550.2(TTN):c.54631C>A (p.Pro18211Thr)

SNV
Germline

Chr2:178604056

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1993602

rs_727504192

6 SubmittersRCV001134523 RCV001135953 RCV001135954 RCV001134521 RCV001134522 RCV001557794 RCV002436717 RCV003150386

NM_001267550.2(TTN):c.54348A>T (p.Glu18116Asp)

SNV
Germline

Chr2:178604741

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1993651

rs_773746281

4 SubmittersRCV001131646 RCV001131642 RCV001131643 RCV001131644 RCV001131645 RCV001759893 RCV002429772

NM_001267550.2(TTN):c.53095C>T (p.Arg17699Cys)

SNV
Germline

Chr2:178607593

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1993858

rs_760963888

2 SubmittersRCV001129413 RCV001129412 RCV001132130 RCV001132129 RCV001132128 RCV003736993

NM_001267550.2(TTN):c.50538T>C (p.Ile16846=)

SNV
Germline

Chr2:178611771

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1994358

rs_763711863

2 SubmittersRCV001130778 RCV001130780 RCV001130781 RCV001130782 RCV001130779 RCV005213463

NM_001267550.2(TTN):c.48099T>C (p.Tyr16033=)

SNV
Germline

Chr2:178616790

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1994917

rs_760816246

1 SubmittersRCV001131528 RCV001131530 RCV001131529 RCV001131527 RCV001134524

NM_001267550.2(TTN):c.45786C>T (p.Tyr15262=)

SNV
Germline

Chr2:178620824

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1995369

rs_532009022

3 SubmittersRCV001133170 RCV001133171 RCV001133172 RCV001133173 RCV001132262 RCV002411641 RCV003769252

NM_001267550.2(TTN):c.44373T>C (p.Asp14791=)

SNV
Germline

Chr2:178629352

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430112770

rs_772552324

3 SubmittersRCV001135112 RCV001135108 RCV001135109 RCV001135110 RCV001135111 RCV003769636 RCV005762183

NM_001267550.2(TTN):c.42046G>C (p.Gly14016Arg)

SNV
Germline

Chr2:178634828

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1996150

rs_367751077

1 SubmittersRCV001134268 RCV001134264 RCV001134265 RCV001134266 RCV001134267

NM_001267550.2(TTN):c.41569G>A (p.Ala13857Thr)

SNV
Germline

Chr2:178636002

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1996244

rs_144963490

1 SubmittersRCV001131403 RCV001131405 RCV001131404 RCV001131406 RCV001131407

NM_001267550.2(TTN):c.40519C>T (p.Arg13507Cys)

SNV
Germline

Chr2:178642276

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996467

rs_528749203

3 SubmittersRCV001136078 RCV001136079 RCV001136080 RCV001136081 RCV001129101 RCV002379656 RCV003326544

NM_001267550.2(TTN):c.34768G>C (p.Glu11590Gln)

SNV
Germline

Chr2:178673651

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1997987

rs_764974634

2 SubmittersRCV001133182 RCV001133184 RCV001133183 RCV001133180 RCV001133181 RCV003142066

NM_001267550.2(TTN):c.34696G>T (p.Ala11566Ser)

SNV
Germline

Chr2:178674326

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1998008

rs_556948427

3 SubmittersRCV001129635 RCV001134649 RCV001134650 RCV001134651 RCV001134652 RCV003142057 RCV004734024

NM_001267550.2(TTN):c.33881C>G (p.Pro11294Arg)

SNV
Germline

Chr2:178678443

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1998201

rs_372841136

5 SubmittersRCV001129854 RCV001132576 RCV001132574 RCV001132573 RCV001132575 RCV001585995 RCV003150385

NM_001267550.2(TTN):c.32571G>T (p.Lys10857Asn)

SNV
Germline

Chr2:178684733

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998594

rs_370317568

2 SubmittersRCV001130558 RCV001130560 RCV001130556 RCV001130557 RCV001130559 RCV003142060

NM_001267550.2(TTN):c.32211G>A (p.Glu10737=)

SNV
Germline

Chr2:178688211

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998686

rs_747597729

3 SubmittersRCV001131412 RCV001131411 RCV001131413 RCV001131409 RCV001131410 RCV002070533 RCV002511049

NM_001267550.2(TTN):c.30456G>C (p.Arg10152=)

SNV
Germline

Chr2:178702223

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1999160

rs_764333790

2 SubmittersRCV001133072 RCV001133073 RCV001133074 RCV001136522 RCV001136523 RCV002070554

NM_001267550.2(TTN):c.29376G>A (p.Lys9792=)

SNV
Germline

Chr2:178706498

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430279253

rs_1560529237

2 SubmittersRCV001133384 RCV001133386 RCV001133387 RCV001133383 RCV001133385 RCV003106127

NM_001267550.2(TTN):c.28185C>G (p.Asn9395Lys)

SNV
Germline

Chr2:178710912

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999637

rs_778573156

4 SubmittersRCV001130228 RCV001130225 RCV001130224 RCV001130227 RCV001130226 RCV003142059

NM_001267550.2(TTN):c.27124G>A (p.Val9042Ile)

SNV
Germline

Chr2:178712901

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999862

rs_766095051

2 SubmittersRCV001131180 RCV001131181 RCV001134143 RCV001134141 RCV001134142 RCV001558016

NM_001267550.2(TTN):c.26753A>G (p.Gln8918Arg)

SNV
Germline

Chr2:178713905

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999947

rs_760040495

2 SubmittersRCV001131303 RCV001134279 RCV001131300 RCV001131301 RCV001131302 RCV005633903

NM_001267550.2(TTN):c.26350T>C (p.Trp8784Arg)

SNV
Germline

Chr2:178714424

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2000021

rs_375067750

1 SubmittersRCV001128989 RCV001135961 RCV001135962 RCV001135963 RCV001135964

NM_001267550.2(TTN):c.23391C>T (p.Phe7797=)

SNV
Germline

Chr2:178720251

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2000636

rs_754815317

2 SubmittersRCV001130099 RCV001130101 RCV001130097 RCV001130098 RCV001130100 RCV002070518

NM_001267550.2(TTN):c.22966A>G (p.Asn7656Asp)

SNV
Germline

Chr2:178721053

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000738

rs_184123332

2 SubmittersRCV001131064 RCV001131065 RCV001131066 RCV001131063 RCV001134027 RCV003142062

NM_001267550.2(TTN):c.21506A>C (p.Asn7169Thr)

SNV
Germline

Chr2:178723594

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349534245

rs_786205314

3 SubmittersRCV001131547 RCV001131548 RCV001134541 RCV001134542 RCV001134543 RCV005405497 RCV005628877

NM_001267550.2(TTN):c.19377G>A (p.Val6459=)

SNV
Germline

Chr2:178728549

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2001421

rs_371652207

2 SubmittersRCV001129528 RCV001129529 RCV001136530 RCV001136531 RCV001136532 RCV001447814

NM_001267550.2(TTN):c.18690C>T (p.Val6230=)

SNV
Germline

Chr2:178729466

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2001558

rs_754536598

2 SubmittersRCV001133390 RCV001133391 RCV001133392 RCV001133393 RCV001133394 RCV001400607

NM_001267550.2(TTN):c.18247A>G (p.Ile6083Val)

SNV
Germline

Chr2:178730153

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001655

rs_374012753

2 SubmittersRCV001135133 RCV001135134 RCV001135135 RCV001135136 RCV001135132 RCV003142070

NM_001267550.2(TTN):c.15942T>C (p.Asn5314=)

SNV
Germline

Chr2:178733351

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430294177

rs_1311178060

2 SubmittersRCV001134406 RCV001134407 RCV001134403 RCV001134404 RCV001134405 RCV001498592

NM_001267550.2(TTN):c.14428A>C (p.Lys4810Gln)

SNV
Germline

Chr2:178736018

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002399

rs_367630668

3 SubmittersRCV001129334 RCV001132034 RCV001132035 RCV001129333 RCV001129332 RCV001759891

NM_001267550.2(TTN):c.8991C>A (p.Ile2997=)

SNV
Germline

Chr2:178768845

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004465

rs_757524187

3 SubmittersRCV001130679 RCV001130680 RCV001130681 RCV001133638 RCV001133639 RCV002070523 RCV002375032

NM_001267550.2(TTN):c.8373C>T (p.His2791=)

SNV
Germline

Chr2:178770419

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2004607

rs_566816279

4 SubmittersRCV001133779 RCV001133778 RCV001133780 RCV001133781 RCV001133782 RCV001478287 RCV003293895 RCV004809023

NM_001267550.2(TTN):c.6322G>A (p.Glu2108Lys)

SNV
Germline

Chr2:178775542

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005070

rs_762999586

2 SubmittersRCV001134411 RCV001134408 RCV001134409 RCV001134410 RCV001134412 RCV003142069

NM_001267550.2(TTN):c.4995G>A (p.Gly1665=)

SNV
Germline

Chr2:178776869

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2005234

rs_755324231

3 SubmittersRCV001129115 RCV001129114 RCV001129116 RCV001129117 RCV001129118 RCV002070504 RCV002339412

NM_001267550.2(TTN):c.4087A>G (p.Thr1363Ala)

SNV
Germline

Chr2:178778995

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2005408

rs_768249663

5 SubmittersRCV001129434 RCV001129435 RCV001129436 RCV001129437 RCV001136420 RCV002225797 RCV005405494

NM_001267550.2(TTN):c.1446C>T (p.Ala482=)

SNV
Germline

Chr2:178793494

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006041

rs_183258737

5 SubmittersRCV001134043 RCV001134039 RCV001134040 RCV001134041 RCV001134042 RCV001585998 RCV002070567 RCV004994259

NM_001267550.2(TTN):c.68528-8T>C

SNV
Germline

Chr2:178577906

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1991076

rs_746223377

3 SubmittersRCV001135617 RCV001135616 RCV001135618 RCV001135619 RCV001135620 RCV001471095 RCV006266581

NM_001267550.2(TTN):c.58433-15T>G

SNV
Germline

Chr2:178593882

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1139655707

rs_2050786898

2 SubmittersRCV001133368 RCV001133370 RCV001133369 RCV001132461 RCV001132462 RCV003769255

NM_001267550.2(TTN):c.55432+10A>G

SNV
Germline

Chr2:178601648

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1993456

rs_751062759

2 SubmittersRCV001135749 RCV001134255 RCV001134256 RCV001134257 RCV001134258 RCV002556872

NM_001267550.2(TTN):c.48461-11A>G

SNV
Germline

Chr2:178615495

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1994809

rs_371040291

2 SubmittersRCV001131399 RCV001131400 RCV001134386 RCV001134385 RCV001134384 RCV002070532

NM_001267550.2(TTN):c.47875+12T>G

SNV
Germline

Chr2:178617108

Conflicting classifications of pathogenicity

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1994959

rs_758849410

2 SubmittersRCV001131654 RCV001132673 RCV001132675 RCV001132674 RCV001132676 RCV005213464

NM_001267550.2(TTN):c.44815+14T>C

SNV
Germline

Chr2:178624451

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1139657462

rs_2058737403

2 SubmittersRCV001132568 RCV001132569 RCV001132570 RCV001132566 RCV001132567 RCV003769256

NM_001267550.2(TTN):c.39464-15T>C

SNV
Germline

Chr2:178651551

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1139657474

rs_2062964886

2 SubmittersRCV001136292 RCV001136294 RCV001136293 RCV001136295 RCV001136296 RCV005225240

NM_001267550.2(TTN):c.31348+14C>T

SNV
Germline

Chr2:178694815

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1139655666

rs_2073303724

2 SubmittersRCV001131905 RCV001131902 RCV001131903 RCV001131904 RCV001131906 RCV006557041

NM_001267550.2(TTN):c.28462+11T>C

SNV
Germline

Chr2:178710624

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1999596

rs_563062273

3 SubmittersRCV001130802 RCV001133759 RCV001133761 RCV001133760 RCV001133762 RCV002070525 RCV003235476

NM_001267550.2(TTN):c.22528+12C>T

SNV
Germline

Chr2:178722247

Conflicting classifications of pathogenicity

Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2000826

rs_756012779

3 SubmittersRCV001131182 RCV001134152 RCV001134151 RCV001134149 RCV001134150 RCV003769245 RCV004694826

NM_001267550.2(TTN):c.22240+14A>G

SNV
Germline

Chr2:178722645

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA761305061

rs_1288832655

2 SubmittersRCV001131305 RCV001131304 RCV001134288 RCV001134287 RCV001131306 RCV003769246

NM_001267550.2(TTN):c.19994-13C>T

SNV
Germline

Chr2:178727384

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Early-onset myopathy with fatal cardiomyopathy
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2001277

rs_775393005

2 SubmittersRCV001132976 RCV001132977 RCV001132978 RCV001136405 RCV001136406 RCV003769257

NM_001130987.2(DYSF):c.2434G>A (p.Val812Ile)

SNV
Germline

Chr2:71564082

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706178

rs_371609233

6 SubmittersRCV001140670 RCV001828567 RCV001541058 RCV004032709

NM_000232.5(SGCB):c.558T>G (p.Thr186=)

SNV
Germline

Chr4:52028793

Conflicting classifications of pathogenicity

Qualitative or quantitative defects of beta-sarcoglycan
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA2918366

rs_200167048

2 SubmittersRCV001145736 RCV001457551

NM_000337.6(SGCD):c.699+15G>A

SNV
Germline

Chr5:156757719

Conflicting classifications of pathogenicity

Qualitative or quantitative defects of delta-sarcoglycan
Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Conflicting Classifications

CA563961370

rs_1440648894

2 SubmittersRCV001152444 RCV003769729

NM_058246.4(DNAJB6):c.885C>G (p.Leu295=)

SNV
Germline

Chr7:157409988

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
not specified

Criteria Provided
Conflicting Classifications

CA4590659

rs_758663546

3 SubmittersRCV001163995 RCV001664715

NM_001101426.4(CRPPA):c.1251+11T>C

SNV
Germline

Chr7:16216055

Conflicting classifications of pathogenicity

Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Conflicting Classifications

CA4169345

rs_199790485

2 SubmittersRCV001162648 RCV003769784

NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile)

SNV
Germline

Chr9:131518529

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA200794964

rs_1008021925

5 SubmittersRCV001166234 RCV001371364 RCV002254953 RCV005463275

NM_001077365.2(POMT1):c.1581G>A (p.Leu527=)

SNV
Germline

Chr9:131519483

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA467423605

rs_1378023866

2 SubmittersRCV001166759 RCV003769808

NM_001077365.2(POMT1):c.606-15G>C

SNV
Germline

Chr9:131509888

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA5293351

rs_201897506

2 SubmittersRCV001166183 RCV002067809

NM_001077365.2(POMT1):c.1083-7C>G

SNV
Germline

Chr9:131513232

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA860568022

rs_1428085460

2 SubmittersRCV001168412 RCV003769821

NM_001267550.2(TTN):c.89844C>T (p.Gly29948=)

SNV
Germline

Chr2:178553056

Conflicting classifications of pathogenicity

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430245692

rs_1700022340

2 SubmittersRCV001170310 RCV003769836

NM_001267550.2(TTN):c.53648G>A (p.Trp17883Ter)

SNV
Germline

Chr2:178605647

Likely pathogenic

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349562126

rs_1171413936

2 SubmittersRCV001170606 RCV005225256

NM_001267550.2(TTN):c.33418+2T>A

SNV
Germline

Chr2:178680252

Conflicting classifications of pathogenicity

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Conflicting Classifications

CA1998358

rs_779749654

3 SubmittersRCV001170396 RCV002558707 RCV002491482

NM_001267550.2(TTN):c.17740+7A>G

SNV
Germline

Chr2:178730918

Conflicting classifications of pathogenicity

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1139657480

rs_2080364920

2 SubmittersRCV001170642 RCV002068046

NM_213599.3(ANO5):c.2395C>T (p.Arg799Ter)

SNV
Germline

Chr11:22274728

Pathogenic/Likely pathogenic

Gnathodiaphyseal dysplasia
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA5923537

rs_762874007

2 SubmittersRCV001196016 RCV001380381

NM_001267550.2(TTN):c.22930C>T (p.Arg7644Ter)

SNV
Germline

Chr2:178721089

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349518057

rs_1340940049

4 SubmittersRCV001309106 RCV002290994 RCV002254955

NM_000070.3(CAPN3):c.1813G>C (p.Val605Leu)

SNV
Germline

Chr15:42408223

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA392000685

rs_200759807

2 SubmittersRCV001200923 RCV002261300

NM_170707.4(LMNA):c.550C>T (p.Gln184Ter)

SNV
Germline

Chr1:156134439

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Charcot-Marie-Tooth disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA342816797

rs_1651341099

2 SubmittersRCV001200924 RCV003117843

NM_001267550.2(TTN):c.2766C>T (p.Arg922=)

SNV
Germline

Chr2:178784079

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005743

rs_372617952

4 SubmittersRCV001201203 RCV002069297 RCV002429857 RCV003142127

NM_001267550.2(TTN):c.106358G>A (p.Trp35453Ter)

SNV
Germline

Chr2:178530257

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA60953232

rs_922408768

1 SubmittersRCV001224919

NM_001267550.2(TTN):c.104857G>A (p.Val34953Ile)

SNV
Germline

Chr2:178531758

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985345

rs_776593972

2 SubmittersRCV001220263 RCV001561459

NM_001267550.2(TTN):c.98623C>T (p.Gln32875Ter)

SNV
Germline

Chr2:178539442

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349431991

rs_1693309648

1 SubmittersRCV001220069

NM_001267550.2(TTN):c.95992G>T (p.Glu31998Ter)

SNV
Germline

Chr2:178544237

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349455229

rs_775585263

2 SubmittersRCV001215239 RCV003132278

NM_001267550.2(TTN):c.92962A>T (p.Arg30988Ter)

SNV
Germline

Chr2:178548664

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349489114

rs_1698169393

1 SubmittersRCV001216208

NM_001267550.2(TTN):c.87734G>A (p.Trp29245Ter)

SNV
Germline

Chr2:178557528

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349534526

rs_1701973330

2 SubmittersRCV001221721 RCV002356944

NM_001267550.2(TTN):c.79371T>A (p.Tyr26457Ter)

SNV
Germline

Chr2:178566761

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349597207

rs_1706021639

1 SubmittersRCV001219193

NM_001267550.2(TTN):c.72945C>G (p.Tyr24315Ter)

SNV
Germline

Chr2:178573187

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349644674

rs_879087983

4 SubmittersRCV001222785 RCV001544610 RCV004796377

NM_001267550.2(TTN):c.67397C>A (p.Ser22466Ter)

SNV
Germline

Chr2:178579800

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349423849

rs_2047280731

1 SubmittersRCV001216633

NM_001267550.2(TTN):c.66079C>T (p.Gln22027Ter)

SNV
Germline

Chr2:178582377

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349429929

rs_2047976018

3 SubmittersRCV001218844 RCV004774316 RCV005626354

NM_001267550.2(TTN):c.57250A>T (p.Lys19084Ter)

SNV
Germline

Chr2:178597920

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349522400

rs_2052181050

1 SubmittersRCV001218582

NM_001267550.2(TTN):c.55235G>A (p.Trp18412Ter)

SNV
Germline

Chr2:178602036

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349543506

rs_2053599652

1 SubmittersRCV001223127

NM_001267550.2(TTN):c.55117C>T (p.Gln18373Ter)

SNV
Germline

Chr2:178602285

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349544678

rs_2053658622

1 SubmittersRCV001222297

NM_001267550.2(TTN):c.48499C>T (p.Arg16167Ter)

SNV
Germline

Chr2:178615446

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349609324

rs_1312425985

4 SubmittersRCV001218180 RCV001531934 RCV004034060

NM_001130987.2(DYSF):c.3013G>C (p.Glu1005Gln)

SNV
Germline

Chr2:71570262

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706372

rs_763925689

3 SubmittersRCV001215611 RCV001833880 RCV005328600

NM_004393.6(DAG1):c.1471G>A (p.Gly491Arg)

SNV
Germline

Chr3:49531982

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2399091

rs_199728911

2 SubmittersRCV001217575 RCV004034037

NM_001101426.4(CRPPA):c.1226A>G (p.Tyr409Cys)

SNV
Germline

Chr7:16216091

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
not specified

Criteria Provided
Conflicting Classifications

CA367000955

rs_1325845862

2 SubmittersRCV001221788 RCV005532873

NM_201384.3(PLEC):c.12721G>A (p.Gly4241Ser)

SNV
Germline

Chr8:143917100

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4923998

rs_782789434

6 SubmittersRCV001222147 RCV001664764 RCV003163713

NM_201384.3(PLEC):c.8524G>A (p.Val2842Ile)

SNV
Germline

Chr8:143921297

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925275

rs_782665391

3 SubmittersRCV001217930 RCV004546616 RCV004960563

NM_201384.3(PLEC):c.4408G>A (p.Gly1470Arg)

SNV
Germline

Chr8:143925521

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926671

rs_782341251

2 SubmittersRCV001215988 RCV003130189

NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser)

SNV
Germline

Chr9:105635203

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
not specified
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA374378341

rs_1429464723

6 SubmittersRCV005040033 RCV003473771 RCV001729816 RCV004587076 RCV001218466

NM_213599.3(ANO5):c.1544C>A (p.Ser515Ter)

SNV
Germline

Chr11:22259655

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

CA379922262

rs_1854126127

1 SubmittersRCV001223530

NM_000023.4(SGCA):c.289G>C (p.Asp97His)

SNV
Germline

Chr17:50167713

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA8643743

rs_774299871

2 SubmittersRCV001221207

NM_001267550.2(TTN):c.103771C>T (p.Arg34591Ter)

SNV
Germline

Chr2:178532844

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA60956837

rs_967542291

6 SubmittersRCV001203246 RCV001780110 RCV004033565 RCV004764957

NM_001267550.2(TTN):c.103765C>T (p.Gln34589Ter)

SNV
Germline

Chr2:178532850

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349413554

rs_749082693

1 SubmittersRCV001202771

NM_001267550.2(TTN):c.94332G>A (p.Trp31444Ter)

SNV
Germline

Chr2:178547193

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349475129

rs_1697578690

1 SubmittersRCV001207099

NM_001267550.2(TTN):c.81254C>G (p.Ser27085Ter)

SNV
Germline

Chr2:178564878

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349582284

rs_1705109191

1 SubmittersRCV001211645

NM_001267550.2(TTN):c.80445C>A (p.Tyr26815Ter)

SNV
Germline

Chr2:178565687

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349588735

rs_759414143

1 SubmittersRCV001209932

NM_001267550.2(TTN):c.79801G>T (p.Gly26601Ter)

SNV
Germline

Chr2:178566331

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349593667

rs_773632027

1 SubmittersRCV001213824

NM_001267550.2(TTN):c.79717G>T (p.Glu26573Ter)

SNV
Germline

Chr2:178566415

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349594225

rs_1705879851

2 SubmittersRCV001204380 RCV003163545

NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter)

SNV
Germline

Chr2:178569395

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349614200

rs_1707280155

3 SubmittersRCV001208963 RCV002497717 RCV003314677

NM_001267550.2(TTN):c.73911G>A (p.Trp24637Ter)

SNV
Germline

Chr2:178572221

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349636371

rs_1708468046

1 SubmittersRCV001201651

NM_001267550.2(TTN):c.63010G>T (p.Glu21004Ter)

SNV
Germline

Chr2:178588715

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349457946

rs_769345390

4 SubmittersRCV001205862 RCV001249243 RCV001568893 RCV005908985

NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)

SNV
Germline

Chr2:178599221

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
6 conditions
Cardiovascular phenotype
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1993228

rs_745376275

9 SubmittersRCV001210866 RCV001542650 RCV001780121 RCV002484145 RCV002436811 RCV003155372

NM_001267550.2(TTN):c.54000G>A (p.Trp18000Ter)

SNV
Germline

Chr2:178605177

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA60980503

rs_72646813

2 SubmittersRCV001210222 RCV002283527

NM_001267550.2(TTN):c.28739C>A (p.Ser9580Ter)

SNV
Germline

Chr2:178709580

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349590074

rs_375212459

1 SubmittersRCV001212606

NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)

SNV
Germline

Chr2:71567953

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA347213004

rs_2092204417

3 SubmittersRCV001207233 RCV001776143 RCV001263672

NM_001130987.2(DYSF):c.4438G>A (p.Asp1480Asn)

SNV
Germline

Chr2:71613384

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707007

rs_765027886

3 SubmittersRCV001211296 RCV001833852 RCV003145388

NM_000232.5(SGCB):c.132C>G (p.Tyr44Ter)

SNV
Germline

Chr4:52033542

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Single Submitter

CA356878009

rs_1737305761

1 SubmittersRCV001204851

NM_012470.4(TNPO3):c.1424C>T (p.Thr475Met)

SNV
Germline

Chr7:128990035

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4478136

rs_200236830

2 SubmittersRCV001204704 RCV004761974

NM_058246.4(DNAJB6):c.66A>G (p.Ala22=)

SNV
Germline

Chr7:157363161

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4590350

rs_140662370

3 SubmittersRCV001213754 RCV001815513 RCV005550180

NM_201384.3(PLEC):c.4727C>T (p.Ala1576Val)

SNV
Germline

Chr8:143925202

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926556

rs_782322130

3 SubmittersRCV001205982 RCV002561205

NM_001077365.2(POMT1):c.1457G>A (p.Trp486Ter)

SNV
Germline

Chr9:131518928

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA375312051

rs_1191391104

1 SubmittersRCV001205242

NM_213599.3(ANO5):c.368C>T (p.Ser123Leu)

SNV
Germline

Chr11:22227306

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA5922916

rs_575008764

5 SubmittersRCV001204069 RCV001532156 RCV005236681

NM_213599.3(ANO5):c.570A>G (p.Gln190=)

SNV
Germline

Chr11:22227508

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5922948

rs_144159801

2 SubmittersRCV001211737 RCV001664757

NM_000070.3(CAPN3):c.240C>G (p.Phe80Leu)

SNV
Germline

Chr15:42360045

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA391994987

rs_2052598737

2 SubmittersRCV005408748 RCV001205433

NM_024301.5(FKRP):c.745G>A (p.Ala249Thr)

SNV
Germline

Chr19:46756195

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9532196

rs_757955092

5 SubmittersRCV001208376 RCV003145380 RCV001833831 RCV004033726

NM_001267550.2(TTN):c.64672+1G>A

SNV
Germline

Chr2:178585071

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349438515

rs_2048635392

1 SubmittersRCV001205435

NM_001267550.2(TTN):c.48312+2T>C

SNV
Germline

Chr2:178616477

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349611321

rs_2057367803

1 SubmittersRCV001207200

NM_001267550.2(TTN):c.35713+1G>A

SNV
Germline

Chr2:178667441

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related myopathy

Criteria Provided
Conflicting Classifications

CA349508881

rs_2066160245

2 SubmittersRCV001207009 RCV004587067

NM_001267550.2(TTN):c.27886+1G>T

SNV
Germline

Chr2:178711943

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA10575435

rs_2076721233

1 SubmittersRCV001210567

NM_001267550.2(TTN):c.9164-1G>A

SNV
Germline

Chr2:178768156

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349675766

rs_2090846146

1 SubmittersRCV001212791

NM_001267550.2(TTN):c.9163+5G>C

SNV
Germline

Chr2:178768668

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004438

rs_775448783

3 SubmittersRCV001211682 RCV001567047 RCV002375164

NM_001267550.2(TTN):c.4480+1G>A

SNV
Germline

Chr2:178777703

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2005318

rs_766581255

2 SubmittersRCV001212333 RCV003142145

NM_001267550.2(TTN):c.3729+1G>A

SNV
Germline

Chr2:178779999

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA2005494

rs_781562337

2 SubmittersRCV001213914 RCV003228803

NM_001130987.2(DYSF):c.2697+1G>C

SNV
Germline

Chr2:71568083

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347214076

rs_140108514

2 SubmittersRCV001205457 RCV004998721

NM_001130987.2(DYSF):c.3228+1G>A

SNV
Germline

Chr2:71570742

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347217178

rs_2092371566

2 SubmittersRCV001201509 RCV005614494

NM_001267550.2(TTN):c.107377+1G>C

SNV
Germline

Chr2:178528273

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions
Cardiovascular phenotype
Myopathy, myofibrillar, 9, with early respiratory failure
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Centronuclear myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA60949774

rs_112188483

7 SubmittersRCV001221534 RCV001780146 RCV002504278 RCV005772104 RCV005863384

NM_001267550.2(TTN):c.68527+1G>C

SNV
Germline

Chr2:178577987

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1991091

rs_766984722

3 SubmittersRCV001217740 RCV003127692 RCV004034044

NM_001267550.2(TTN):c.63794-1G>A

SNV
Germline

Chr2:178587418

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349449022

rs_2049262622

5 SubmittersRCV001219309 RCV001528909 RCV006347531

NM_001267550.2(TTN):c.58432+2T>C

SNV
Germline

Chr2:178593959

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Single Submitter

CA60971681

rs_796197320

3 SubmittersRCV001224450 RCV001528670

NM_001267550.2(TTN):c.53582-1G>A

SNV
Germline

Chr2:178605714

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349562711

rs_2054612323

1 SubmittersRCV001215882

NM_001267550.2(TTN):c.41329+1G>T

SNV
Germline

Chr2:178636397

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Single Submitter

CA61007613

rs_796238032

5 SubmittersRCV001223105 RCV001528243

NM_001267550.2(TTN):c.40723+1G>T

SNV
Germline

Chr2:178640540

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996411

rs_371770198

3 SubmittersRCV001219054 RCV001836972 RCV002379824

NM_001267550.2(TTN):c.30599-1G>A

SNV
Germline

Chr2:178701204

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349567565

rs_1338491963

4 SubmittersRCV001221662 RCV001700989

NM_001267550.2(TTN):c.1536+1G>A

SNV
Germline

Chr2:178793403

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349512365

rs_2093614668

1 SubmittersRCV001215211

NM_021942.6(TRAPPC11):c.204+1G>C

SNV
Germline

Chr4:183664072

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

CA358858667

rs_1734714805

1 SubmittersRCV001223573

NM_032237.5(POMK):c.282+1G>C

SNV
Germline

Chr8:43103831

Pathogenic

Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

Criteria Provided
Single Submitter

CA371117919

rs_1206884841

1 SubmittersRCV001221319

NM_001077365.2(POMT1):c.1699-1G>A

SNV
Germline

Chr9:131521345

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Single Submitter

CA375313543

rs_1949874222

1 SubmittersRCV001217576

NM_213599.3(ANO5):c.364-1G>A

SNV
Germline

Chr11:22227301

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379919236

rs_1852871649

1 SubmittersRCV001218905

NM_000070.3(CAPN3):c.1782+1072G>C

SNV
Germline

Chr15:42404849

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA1139663856

rs_2053974373

3 SubmittersRCV001217778 RCV003462737 RCV005012626

NM_001267550.2(TTN):c.106102T>C (p.Ser35368Pro)

SNV
Germline

Chr2:178530513

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA349407031

rs_1688636055

2 SubmittersRCV001233323 RCV005405552

NM_001267550.2(TTN):c.105038G>A (p.Arg35013His)

SNV
Germline

Chr2:178531577

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1985321

rs_779484675

4 SubmittersRCV001227105 RCV002484238 RCV003142189 RCV005405549

NM_001267550.2(TTN):c.104827C>T (p.Arg34943Ter)

SNV
Germline

Chr2:178531788

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9

Criteria Provided
Multiple Submitters
No Conflicts

CA349410810

rs_1202115268

3 SubmittersRCV001227083 RCV003294084 RCV006454721

NM_001267550.2(TTN):c.101327C>T (p.Pro33776Leu)

SNV
Germline

Chr2:178535288

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1985900

rs_536357517

3 SubmittersRCV001225384 RCV002379855 RCV005909067

NM_001267550.2(TTN):c.93337C>T (p.Gln31113Ter)

SNV
Germline

Chr2:178548289

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349486046

rs_1454572839

2 SubmittersRCV001237949 RCV003166478

NM_001267550.2(TTN):c.89118C>A (p.Tyr29706Ter)

SNV
Germline

Chr2:178553993

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349520848

rs_1700331549

1 SubmittersRCV001227948

NM_001267550.2(TTN):c.88204C>T (p.Gln29402Ter)

SNV
Germline

Chr2:178556950

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349530865

rs_1701741963

3 SubmittersRCV001234811 RCV003238853

NM_001267550.2(TTN):c.87852G>A (p.Trp29284Ter)

SNV
Germline

Chr2:178557410

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349533747

rs_1701925645

1 SubmittersRCV001225739

NM_001267550.2(TTN):c.82822G>T (p.Glu27608Ter)

SNV
Germline

Chr2:178563310

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349571321

rs_1704361187

1 SubmittersRCV001229393

NM_001267550.2(TTN):c.79878G>A (p.Trp26626Ter)

SNV
Germline

Chr2:178566254

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349593163

rs_1705798888

1 SubmittersRCV001229831

NM_001267550.2(TTN):c.68664G>A (p.Trp22888Ter)

SNV
Germline

Chr2:178577762

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349671438

rs_2046761831

1 SubmittersRCV001231434

NM_001267550.2(TTN):c.66008G>A (p.Trp22003Ter)

SNV
Germline

Chr2:178582448

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349430085

rs_1229556495

1 SubmittersRCV001227908

NM_001267550.2(TTN):c.62655G>A (p.Trp20885Ter)

SNV
Germline

Chr2:178589070

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349463759

rs_2049677875

2 SubmittersRCV001238868 RCV004764959

NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter)

SNV
Germline

Chr2:178601739

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349542075

rs_1440093502

7 SubmittersRCV001232206 RCV001268635 RCV004033154 RCV004796382 RCV006557228

NM_001267550.2(TTN):c.41436G>A (p.Trp13812Ter)

SNV
Germline

Chr2:178636135

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349658735

rs_2060408042

2 SubmittersRCV001232553 RCV005503041

NM_001267550.2(TTN):c.31164C>A (p.Tyr10388Ter)

SNV
Germline

Chr2:178695908

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349565111

rs_794727040

1 SubmittersRCV001232726

NM_001267550.2(TTN):c.27466C>T (p.Gln9156Ter)

SNV
Germline

Chr2:178712456

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349452393

rs_2076800953

1 SubmittersRCV001229058

NM_001267550.2(TTN):c.13696C>T (p.Gln4566Ter)

SNV
Germline

Chr2:178739537

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA2002541

rs_775072385

6 SubmittersRCV001236195 RCV002224031 RCV002430010 RCV006255192

NM_001130987.2(DYSF):c.2125C>T (p.Gln709Ter)

SNV
Germline

Chr2:71555980

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA49797983

rs_756258757

5 SubmittersRCV001237372 RCV003469441 RCV005036518 RCV006249722

NM_001130987.2(DYSF):c.2643T>G (p.Asp881Glu)

SNV
Germline

Chr2:71568028

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706239

rs_146153109

3 SubmittersRCV001231055 RCV001834003 RCV004978164

NM_004393.6(DAG1):c.330G>A (p.Trp110Ter)

SNV
Germline

Chr3:49530841

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

Criteria Provided
Single Submitter

CA352793085

rs_2051320206

1 SubmittersRCV001232180

NM_001101426.4(CRPPA):c.1198G>T (p.Glu400Ter)

SNV
Germline

Chr7:16216119

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Single Submitter

CA367001017

rs_1453431411

1 SubmittersRCV001234441

NM_001101426.4(CRPPA):c.676T>C (p.Tyr226His)

SNV
Germline

Chr7:16376100

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Single Submitter

CA367001898

rs_1282788711

1 SubmittersRCV001232279

NM_201384.3(PLEC):c.5161G>A (p.Glu1721Lys)

SNV
Germline

Chr8:143924768

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926409

rs_782556816

3 SubmittersRCV001228697 RCV001565310 RCV006372290

NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter)

SNV
Germline

Chr9:131506437

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA375305860

rs_1945827957

2 SubmittersRCV001228965 RCV004570568

NM_001077365.2(POMT1):c.1226A>G (p.Tyr409Cys)

SNV
Germline

Chr9:131515476

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Single Submitter

CA375310006

rs_1948104184

1 SubmittersRCV001235411

NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys)

SNV
Germline

Chr15:42402953

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA7511468

rs_747819910

6 SubmittersRCV001228061 RCV002265011 RCV003473793

NM_024301.5(FKRP):c.633G>A (p.Ser211=)

SNV
Germline

Chr19:46756083

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA309099387

rs_921883036

4 SubmittersRCV001226232 RCV001828806 RCV002484228 RCV004032565

NM_017739.4(POMGNT1):c.1282C>T (p.Gln428Ter)

SNV
Germline

Chr1:46192520

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340176183

rs_1657864516

1 SubmittersRCV001245885

NM_001267550.2(TTN):c.79912C>T (p.Gln26638Ter)

SNV
Germline

Chr2:178566220

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349592905

rs_1705781269

1 SubmittersRCV001244729

NM_001267550.2(TTN):c.77157G>A (p.Trp25719Ter)

SNV
Germline

Chr2:178568975

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349612201

rs_1707088255

1 SubmittersRCV001239088

NM_001267550.2(TTN):c.54957G>A (p.Trp18319Ter)

SNV
Germline

Chr2:178602445

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349546308

rs_2053697356

1 SubmittersRCV001240120

NM_001267550.2(TTN):c.47487C>A (p.Tyr15829Ter)

SNV
Germline

Chr2:178617864

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349616689

rs_2057643696

1 SubmittersRCV001248162

NM_001267550.2(TTN):c.34207G>T (p.Glu11403Ter)

SNV
Germline

Chr2:178677705

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349529580

rs_878921943

1 SubmittersRCV001242062

NM_001130987.2(DYSF):c.98A>C (p.Lys33Thr)

SNV
Germline

Chr2:71480889

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705218

rs_539484245

4 SubmittersRCV001244563 RCV001829933 RCV003145481 RCV005550223

NM_001130987.2(DYSF):c.592A>C (p.Thr198Pro)

SNV
Germline

Chr2:71513754

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705388

rs_142265349

4 SubmittersRCV001243658 RCV001835179 RCV003145476 RCV004978193

NM_001130987.2(DYSF):c.1666C>A (p.Pro556Thr)

SNV
Germline

Chr2:71551130

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705879

rs_749866053

3 SubmittersRCV001245099 RCV001835223 RCV004619584

NM_001130987.2(DYSF):c.2068A>T (p.Ile690Phe)

SNV
Germline

Chr2:71553890

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706032

rs_367901920

4 SubmittersRCV001244179 RCV001760277 RCV001829922

NM_001130987.2(DYSF):c.3239C>T (p.Ala1080Val)

SNV
Germline

Chr2:71574208

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706492

rs_562368641

4 SubmittersRCV001244059 RCV001836227 RCV003166527 RCV003490155

NM_001130987.2(DYSF):c.4359G>A (p.Ala1453=)

SNV
Germline

Chr2:71612778

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706975

rs_371816429

3 SubmittersRCV001239752 RCV001664773 RCV001828935

NM_021942.6(TRAPPC11):c.3121G>A (p.Asp1041Asn)

SNV
Germline

Chr4:183706872

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type R18
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA358874712

rs_1353717821

2 SubmittersRCV001243807 RCV006372366

NM_201384.3(PLEC):c.10637C>T (p.Ala3546Val)

SNV
Germline

Chr8:143919184

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924583

rs_533151885

3 SubmittersRCV001242129 RCV003132334 RCV003166512

NM_201384.3(PLEC):c.7666C>T (p.Arg2556Trp)

SNV
Germline

Chr8:143922155

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925552

rs_781882121

3 SubmittersRCV001242382 RCV001586085

NM_201384.3(PLEC):c.1123G>A (p.Val375Met)

SNV
Germline

Chr8:143934364

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA4928164

rs_199866423

5 SubmittersRCV001245913 RCV001549743 RCV003319225

NM_201384.3(PLEC):c.901G>A (p.Ala301Thr)

SNV
Germline

Chr8:143934854

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4928263

rs_573432728

3 SubmittersRCV001241539 RCV003130218 RCV004034684

NM_000070.3(CAPN3):c.1034C>T (p.Pro345Leu)

SNV
Germline

Chr15:42394260

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7511232

rs_746311413

4 SubmittersRCV001244833 RCV003145482 RCV005532898

NM_000070.3(CAPN3):c.1202A>T (p.Tyr401Phe)

SNV
Germline

Chr15:42399500

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA269842848

rs_371784007

3 SubmittersRCV001239389 RCV003462811 RCV005012668

NM_000070.3(CAPN3):c.1561C>T (p.Gln521Ter)

SNV
Germline

Chr15:42402818

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA392000126

rs_2053910936

4 SubmittersRCV001246101 RCV003462825

NM_000023.4(SGCA):c.850C>G (p.Arg284Gly)

SNV
Germline

Chr17:50170245

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643929

rs_137852623

3 SubmittersRCV001248461

NM_000023.4(SGCA):c.851G>A (p.Arg284His)

SNV
Germline

Chr17:50170246

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA8643930

rs_369359375

3 SubmittersRCV001242886

NM_017739.4(POMGNT1):c.1285-2A>T

SNV
Germline

Chr1:46192438

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340176071

rs_386834012

1 SubmittersRCV001234616

NM_017739.4(POMGNT1):c.1153-1G>C

SNV
Germline

Chr1:46192959

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340179236

rs_1657900739

1 SubmittersRCV001228164

NM_017739.4(POMGNT1):c.120+2T>A

SNV
Germline

Chr1:46197700

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340192535

rs_1658353874

4 SubmittersRCV001229087 RCV001828829 RCV004570569 RCV005630892

NM_001267550.2(TTN):c.66160+1G>T

SNV
Germline

Chr2:178582295

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349429748

rs_2047961752

1 SubmittersRCV001227084

NM_001267550.2(TTN):c.52706-1G>C

SNV
Germline

Chr2:178608082

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349571587

rs_2055351447

2 SubmittersRCV001238066 RCV005503048

NM_001267550.2(TTN):c.39380-1G>C

SNV
Germline

Chr2:178651750

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349457225

rs_2063018968

1 SubmittersRCV001227271

NM_021942.6(TRAPPC11):c.1207+1G>C

SNV
Germline

Chr4:183682826

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

CA358864755

rs_1735767573

1 SubmittersRCV001233161

NM_001101426.4(CRPPA):c.933+1G>A

SNV
Germline

Chr7:16278128

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Single Submitter

CA367001204

rs_1784247205

1 SubmittersRCV001228819

NM_001077365.2(POMT1):c.229+2T>C

SNV
Germline

Chr9:131506222

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA375305773

rs_1945782278

2 SubmittersRCV001225759 RCV003473785

NM_000070.3(CAPN3):c.1525-1G>T

SNV
Germline

Chr15:42402123

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392000027

rs_2053889963

1 SubmittersRCV001232871

NM_000070.3(CAPN3):c.1194-2A>G

SNV
Germline

Chr15:42399490

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA391999297

rs_2053804014

2 SubmittersRCV001249767 RCV006446077

NM_001130987.2(DYSF):c.147+1G>A

SNV
Germline

Chr2:71480939

Pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347216132

rs_2082833010

2 SubmittersRCV001249863 RCV003574861

NM_213599.3(ANO5):c.395A>T (p.Lys132Met)

SNV
Germline

Chr11:22227333

Conflicting classifications of pathogenicity

Limb-girdle muscular dystrophy
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA379919370

rs_1852872996

2 SubmittersRCV001254726 RCV003120511

NM_001267550.2(TTN):c.69838C>T (p.Gln23280Ter)

SNV
Germline

Chr2:178576294

Likely pathogenic

Primary familial dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349666227

rs_1710057805

2 SubmittersRCV001255597 RCV005225334

NM_001267550.2(TTN):c.16054G>A (p.Asp5352Asn)

SNV
Germline

Chr2:178733239

Pathogenic/Likely pathogenic

Congenital titinopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349588167

rs_1190242728

2 SubmittersRCV001255974 RCV001343119

NM_000023.4(SGCA):c.957-11C>G

SNV
Germline

Chr17:50170629

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Inborn genetic diseases

Reviewed By Expert Panel

CA626689269

rs_1391089933

6 SubmittersRCV001255990 RCV001566805 RCV004998780 RCV005480652

NM_000023.4(SGCA):c.434C>A (p.Ala145Glu)

SNV
Germline

Chr17:50168422

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2D
Abnormality of the musculature

Criteria Provided
Conflicting Classifications

CA400179868

rs_372046855

2 SubmittersRCV001256190 RCV001814295

NM_001130987.2(DYSF):c.5547-2A>G

SNV
Germline

Chr2:71669110

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA347222046

rs_1238293747

4 SubmittersRCV001256196 RCV002272435 RCV005409791

NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter)

SNV
Germline

Chr2:178547234

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1A
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349475643

rs_1697595705

3 SubmittersRCV001256860 RCV001879963 RCV002366095

NM_001267550.2(TTN):c.55639C>T (p.Gln18547Ter)

SNV
Germline

Chr2:178601358

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349539546

rs_2053403381

2 SubmittersRCV001256711 RCV003770331

NM_001077365.2(POMT1):c.169C>T (p.Gln57Ter)

SNV
Germline

Chr9:131506160

Pathogenic

Dysgenesis of the cerebellar vermis
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA375305638

rs_1945766589

2 SubmittersRCV001257391 RCV003770344

NM_001267550.2(TTN):c.103540G>A (p.Val34514Ile)

SNV
Germline

Chr2:178533075

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1985588

rs_769311670

2 SubmittersRCV001293189 RCV001879974

NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter)

SNV
Unknown

Chr2:71480909

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347216014

rs_2082829594

1 SubmittersRCV001264239

NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter)

SNV
Unknown

Chr2:71481924

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347216396

rs_2082945195

1 SubmittersRCV001264240

NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter)

SNV
Unknown

Chr2:71515641

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347208373

rs_759065714

1 SubmittersRCV001264241

NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter)

SNV
Unknown

Chr2:71526338

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347213635

rs_2087900330

1 SubmittersRCV001264242

NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter)

SNV
Unknown

Chr2:71535066

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347215677

rs_2089169741

1 SubmittersRCV001264243

NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter)

SNV
Unknown

Chr2:71551081

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347217373

rs_2090909751

1 SubmittersRCV001264244

NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter)

SNV
Unknown

Chr2:71553831

Likely pathogenic

Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347218841

rs_2091142154

1 SubmittersRCV001264245

NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter)

SNV
Unknown

Chr2:71553861

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347218903

rs_2091144091

1 SubmittersRCV001264246

NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter)

SNV
Unknown

Chr2:71564211

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347211901

rs_2091951931

1 SubmittersRCV001263671

NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter)

SNV
Unknown

Chr2:71567963

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347213101

rs_2092205152

1 SubmittersRCV001263673

NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter)

SNV
Unknown

Chr2:71568021

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347213610

rs_2092208616

1 SubmittersRCV001263674

NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter)

SNV
Unknown

Chr2:71568029

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347213684

rs_2092209337

1 SubmittersRCV001263675

NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter)

SNV
Unknown

Chr2:71568035

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347213735

rs_2092210085

1 SubmittersRCV001263676

NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter)

SNV
Unknown

Chr2:71568059

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347213907

rs_2092211777

1 SubmittersRCV001263677

NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter)

SNV
Unknown

Chr2:71568327

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347215317

rs_2092231526

1 SubmittersRCV001263678

NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter)

SNV
Unknown

Chr2:71570262

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347216447

rs_763925689

1 SubmittersRCV001263962

NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter)

SNV
Germline

Chr2:71570284

Pathogenic/Likely pathogenic

Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347216541

rs_2092343409

2 SubmittersRCV001263963 RCV003574867

NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter)

SNV
Unknown

Chr2:71570692

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347217073

rs_2092369130

1 SubmittersRCV001263964

NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter)

SNV
Unknown

Chr2:71574210

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347217954

rs_1666836481

1 SubmittersRCV001263965

NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter)

SNV
Germline

Chr2:71574222

Pathogenic/Likely pathogenic

Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347218012

rs_1252415299

3 SubmittersRCV001263966 RCV001880071 RCV003462841

NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter)

SNV
Unknown

Chr2:71590273

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347220852

rs_2093222376

1 SubmittersRCV001263967

NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter)

SNV
Unknown

Chr2:71598640

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347223846

rs_2093464314

1 SubmittersRCV001263968

NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter)

SNV
Germline

Chr2:71598661

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Condition: not provided
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347224044

rs_143393575

3 SubmittersRCV001263969 RCV001780216 RCV003469492

NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter)

SNV
Unknown

Chr2:71598668

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347224121

rs_773773555

1 SubmittersRCV001264128

NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter)

SNV
Unknown

Chr2:71600840

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347225716

rs_1462064763

1 SubmittersRCV001264129

NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)

SNV
Germline

Chr2:71613360

Pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Reviewed By Expert Panel

CA49780605

rs_576130413

5 SubmittersRCV001264130 RCV001389481 RCV003226456 RCV004570655

NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter)

SNV
Unknown

Chr2:71659010

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347219870

rs_2094828804

1 SubmittersRCV001264131

NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter)

SNV
Germline

Chr2:71660628

Pathogenic/Likely pathogenic

Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347220083

rs_2094861411

2 SubmittersRCV001264132 RCV002541614

NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter)

SNV
Unknown

Chr2:71660647

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347220121

rs_868779799

1 SubmittersRCV001264133

NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)

SNV
Germline

Chr2:71664425

Pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy
Condition: not provided
Miyoshi muscular dystrophy 1

Reviewed By Expert Panel

CA1707263

rs_758992291

6 SubmittersRCV001264134 RCV003399036 RCV003145501 RCV003469493

NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter)

SNV
Unknown

Chr2:71665226

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347221029

rs_1342179740

1 SubmittersRCV001264135

NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter)

SNV
Unknown

Chr2:71665238

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347221057

rs_2094975129

1 SubmittersRCV001264255

NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter)

SNV
Unknown

Chr2:71665283

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347221149

rs_2094975881

1 SubmittersRCV001264256

NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter)

SNV
Unknown

Chr2:71665295

Likely pathogenic

Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347221175

rs_2094976185

1 SubmittersRCV001264257

NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter)

SNV
Unknown

Chr2:71665304

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347221196

rs_2094976441

1 SubmittersRCV001264258

NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter)

SNV
Unknown

Chr2:71669182

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347223021

rs_2095073059

1 SubmittersRCV001264259

NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter)

SNV
Unknown

Chr2:71669203

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347223148

rs_1320752132

1 SubmittersRCV001264260

NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter)

SNV
Unknown

Chr2:71681046

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347226788

rs_2095289978

1 SubmittersRCV001264261

NM_000070.3(CAPN3):c.343G>T (p.Gly115Ter)

SNV
Unknown

Chr15:42384516

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391997375

rs_2053335168

1 SubmittersRCV001263854

NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter)

SNV
Germline

Chr15:42389042

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA391998295

rs_757448865

4 SubmittersRCV001263855 RCV002499453 RCV003462840

NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter)

SNV
Germline

Chr15:42389067

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA391998353

rs_2053484604

2 SubmittersRCV001263856

NM_000070.3(CAPN3):c.973A>T (p.Arg325Ter)

SNV
Unknown

Chr15:42392666

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391998793

rs_2053589887

1 SubmittersRCV001263857

NM_000070.3(CAPN3):c.2083G>T (p.Glu695Ter)

SNV
Unknown

Chr15:42409963

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392001522

rs_2054157050

1 SubmittersRCV001263858

NM_000070.3(CAPN3):c.2163G>A (p.Trp721Ter)

SNV
Germline

Chr15:42410475

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA392001703

rs_2054179951

2 SubmittersRCV001264018

NM_000070.3(CAPN3):c.2380A>T (p.Arg794Ter)

SNV
Unknown

Chr15:42411000

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392002215

rs_2054206966

1 SubmittersRCV001264019

NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter)

SNV
Germline

Chr1:46196781

Pathogenic

Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA340191630

rs_749603354

3 SubmittersRCV001265639 RCV002537679 RCV003462842

NM_001267550.2(TTN):c.39974-11T>G

SNV
Germline

Chr2:178649342

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions
TTN-related myopathy
TTN-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA60966163

rs_758597536

8 SubmittersRCV001268728 RCV001880170 RCV002491873 RCV003225966 RCV004538548 RCV004762042

NM_000070.3(CAPN3):c.47A>C (p.Glu16Ala)

SNV
Germline

Chr15:42359852

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7510839

rs_775742866

4 SubmittersRCV001277693 RCV003145505 RCV004967938

NM_001267550.2(TTN):c.35409T>G (p.Ile11803Met)

SNV
Germline

Chr2:178669653

Conflicting classifications of pathogenicity

not specified
TTN-related disorder
Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1997826

rs_186992412

6 SubmittersRCV001289368 RCV004531054 RCV006450924 RCV004799559 RCV005225348

NM_001267550.2(TTN):c.82208C>G (p.Ser27403Ter)

SNV
Germline

Chr2:178563924

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349574885

rs_1704654934

2 SubmittersRCV001812451 RCV001871676

NM_001267550.2(TTN):c.40559-8C>G

SNV
Germline

Chr2:178641323

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1139657467

rs_2061204822

2 SubmittersRCV001289374 RCV003770466

NM_001267550.2(TTN):c.6609C>G (p.Val2203=)

SNV
Germline

Chr2:178775102

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430300351

rs_2092059385

2 SubmittersRCV001288920 RCV001429443

NM_201384.3(PLEC):c.2847G>A (p.Glu949=)

SNV
Germline

Chr8:143929722

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA463535750

rs_1169421274

2 SubmittersRCV001289146 RCV005213517

NM_201384.3(PLEC):c.2643G>A (p.Thr881=)

SNV
Germline

Chr8:143930032

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927428

rs_369973592

3 SubmittersRCV001289144 RCV001471002

NM_201384.3(PLEC):c.2435T>C (p.Val812Ala)

SNV
Germline

Chr8:143930406

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4927536

rs_557539356

3 SubmittersRCV001289140 RCV001308975 RCV004035567

NM_013382.7(POMT2):c.2083T>A (p.Trp695Arg)

SNV
Germline

Chr14:77278458

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA7285550

rs_139308429

2 SubmittersRCV001288360 RCV001871711

NM_000070.3(CAPN3):c.643T>C (p.Ser215Pro)

SNV
Germline

Chr15:42388938

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
not specified

Criteria Provided
Conflicting Classifications

CA391998060

rs_2053478068

2 SubmittersRCV001290339 RCV006453626

NM_001267550.2(TTN):c.26764C>T (p.Arg8922Ter)

SNV
Germline

Chr2:178713370

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349462471

rs_1250796004

3 SubmittersRCV001291568 RCV001342747 RCV006257334

NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)

SNV
Germline

Chr1:46193315

Conflicting classifications of pathogenicity

Intellectual disability
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy type B6
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76

Criteria Provided
Conflicting Classifications

CA833500

rs_762972459

8 SubmittersRCV001293357 RCV001760332 RCV001810503 RCV001859239 RCV002538420 RCV003448390 RCV005029861

NM_001267550.2(TTN):c.7594+2T>A

SNV
Germline

Chr2:178773460

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349679755

rs_2091827779

1 SubmittersRCV001298531

NM_001130987.2(DYSF):c.176C>T (p.Pro59Leu)

SNV
Germline

Chr2:71481907

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705249

rs_566595009

3 SubmittersRCV001303550 RCV001830198 RCV002070129

NM_001130987.2(DYSF):c.2974G>A (p.Asp992Asn)

SNV
Germline

Chr2:71569929

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1706341

rs_200422222

4 SubmittersRCV001309352 RCV001507561 RCV001836285

NM_004393.6(DAG1):c.473C>G (p.Pro158Arg)

SNV
Germline

Chr3:49530984

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2398912

rs_368359780

2 SubmittersRCV001296005 RCV006347621

NM_012470.4(TNPO3):c.856C>T (p.Arg286Cys)

SNV
Germline

Chr7:129001075

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4478315

rs_745576236

3 SubmittersRCV001295994 RCV003263930

NM_201384.3(PLEC):c.9317G>A (p.Arg3106Lys)

SNV
Germline

Chr8:143920504

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925004

rs_374190410

2 SubmittersRCV001300795 RCV004960711

NM_201384.3(PLEC):c.8140G>A (p.Ala2714Thr)

SNV
Germline

Chr8:143921681

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925410

rs_782744244

2 SubmittersRCV001303427 RCV004036276

NM_201384.3(PLEC):c.7634G>A (p.Arg2545Gln)

SNV
Germline

Chr8:143922187

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925560

rs_782020198

2 SubmittersRCV001298227 RCV003132382

NM_201384.3(PLEC):c.6427G>A (p.Glu2143Lys)

SNV
Germline

Chr8:143923502

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided
PLEC-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925998

rs_782305250

5 SubmittersRCV001299869 RCV001557881 RCV004545191 RCV004960707

NM_201384.3(PLEC):c.5555C>T (p.Ala1852Val)

SNV
Germline

Chr8:143924374

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926327

rs_782360547

5 SubmittersRCV001305130 RCV003135943 RCV005463370

NM_032237.5(POMK):c.1A>G (p.Met1Val)

SNV
Germline

Chr8:43103549

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Limb-girdle muscular dystrophy due to POMK deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA371116521

rs_1432594936

2 SubmittersRCV001295844 RCV005414591

NM_213599.3(ANO5):c.396G>C (p.Lys132Asn)

SNV
Germline

Chr11:22227334

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379919374

rs_375867377

1 SubmittersRCV001299170

NM_000070.3(CAPN3):c.538G>A (p.Asp180Asn)

SNV
Germline

Chr15:42387792

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA7511052

rs_767477904

1 SubmittersRCV001307356

NM_000070.3(CAPN3):c.638A>G (p.His213Arg)

SNV
Germline

Chr15:42388933

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
not specified
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA7511088

rs_768447053

4 SubmittersRCV001306628 RCV002241861 RCV003462875

NM_024301.5(FKRP):c.205T>C (p.Ser69Pro)

SNV
Germline

Chr19:46755655

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Conflicting Classifications

CA309099225

rs_990847012

5 SubmittersRCV001295759 RCV001830129 RCV002418887 RCV002493553

NM_001267550.2(TTN):c.88329T>A (p.Pro29443=)

SNV
Germline

Chr2:178555130

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430246820

rs_1287677844

2 SubmittersRCV001311950 RCV002543584

NM_001267550.2(TTN):c.102782C>A (p.Thr34261Asn)

SNV
Germline

Chr2:178533833

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA60958946

rs_985229219

6 SubmittersRCV001320592 RCV001699532 RCV002395698 RCV003486977

NM_001267550.2(TTN):c.39818-1G>C

SNV
Germline

Chr2:178649895

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349448984

rs_2062662018

1 SubmittersRCV001325136

NM_001267550.2(TTN):c.32312-1G>C

SNV
Germline

Chr2:178685599

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349549702

rs_2070649864

1 SubmittersRCV001315476

NM_001267550.2(TTN):c.27886+3G>A

SNV
Germline

Chr2:178711941

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1999707

rs_750753011

2 SubmittersRCV001325990 RCV001799065

NM_001267550.2(TTN):c.26287G>T (p.Glu8763Ter)

SNV
Germline

Chr2:178714487

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349471600

rs_2077159790

1 SubmittersRCV001314834

NM_001267550.2(TTN):c.22356G>A (p.Trp7452Ter)

SNV
Germline

Chr2:178722431

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349526898

rs_2078556781

1 SubmittersRCV001317259

NM_001267550.2(TTN):c.22240+1G>A

SNV
Germline

Chr2:178722658

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349528110

rs_2078612090

1 SubmittersRCV001316674

NM_001267550.2(TTN):c.21118C>T (p.Arg7040Ter)

SNV
Germline

Chr2:178724141

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA60974346

rs_576359448

4 SubmittersRCV001324566 RCV001573414 RCV002499636

NM_001267550.2(TTN):c.19581C>A (p.Tyr6527Ter)

SNV
Germline

Chr2:178728243

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349552783

rs_746828415

1 SubmittersRCV001314486

NM_001267550.2(TTN):c.6381C>G (p.Tyr2127Ter)

SNV
Germline

Chr2:178775483

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349440148

rs_2092121151

2 SubmittersRCV001314360 RCV002366164

NM_001267550.2(TTN):c.4880G>A (p.Trp1627Ter)

SNV
Germline

Chr2:178776984

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA2005250

rs_767755367

1 SubmittersRCV001320036

NM_001267550.2(TTN):c.4537C>T (p.Gln1513Ter)

SNV
Germline

Chr2:178777528

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349467044

rs_2092360420

1 SubmittersRCV001317732

NM_031372.4(HNRNPDL):c.274T>C (p.Ser92Pro)

SNV
Germline

Chr4:82429417

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1G
not specified

Criteria Provided
Conflicting Classifications

CA2985089

rs_199543859

3 SubmittersRCV001315164 RCV005851807

NM_001101426.4(CRPPA):c.1A>G (p.Met1Val)

SNV
Germline

Chr7:16421322

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA367004633

rs_886043573

2 SubmittersRCV001313902 RCV001780245

NM_024301.5(FKRP):c.946C>G (p.Pro316Ala)

SNV
Germline

Chr19:46756396

Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Single Submitter

CA406496337

rs_28937901

2 SubmittersRCV001327126 RCV001831029

NM_001267550.2(TTN):c.107224-1G>C

SNV
Germline

Chr2:178528428

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349401545

rs_112720067

2 SubmittersRCV001331661 RCV002546499

NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter)

SNV
Germline

Chr2:178549802

Pathogenic/Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349495863

rs_1698600051

4 SubmittersRCV001331652 RCV002357169 RCV002546498 RCV004764963

NM_001267550.2(TTN):c.91564+2T>C

SNV
Germline

Chr2:178550965

Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349500213

rs_1699208458

2 SubmittersRCV001330318 RCV002546381

NM_001267550.2(TTN):c.63450A>G (p.Gln21150=)

SNV
Germline

Chr2:178587957

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430264797

rs_2049398530

2 SubmittersRCV001329651 RCV003770821

NM_001130987.2(DYSF):c.5188C>T (p.Gln1730Ter)

SNV
Germline

Chr2:71665175

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347220924

rs_1476505138

3 SubmittersRCV001908555 RCV003146308 RCV005023377

NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln)

SNV
Germline

Chr14:77278785

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA7285581

rs_770606360

6 SubmittersRCV001331801 RCV001871825 RCV003327506 RCV005394950

NM_021942.6(TRAPPC11):c.1568-1G>T

SNV
Germline

Chr4:183685083

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Multiple Submitters
No Conflicts

CA358867761

rs_1180079162

2 SubmittersRCV001336033

NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu)

SNV
Germline

Chr4:183705029

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type R18
not specified

Criteria Provided
Conflicting Classifications

CA3152410

rs_764158202

4 SubmittersRCV001336035 RCV004770071

NM_001267550.2(TTN):c.104425G>C (p.Val34809Leu)

SNV
Germline

Chr2:178532190

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1985429

rs_754384143

2 SubmittersRCV001337245 RCV005405574

NM_001267550.2(TTN):c.45730G>T (p.Glu15244Ter)

SNV
Germline

Chr2:178620880

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349632206

rs_2058161147

1 SubmittersRCV001342389

NM_001267550.2(TTN):c.45350-1G>C

SNV
Germline

Chr2:178621369

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349634982

rs_2058237051

1 SubmittersRCV001343567

NM_001267550.2(TTN):c.44878C>T (p.Arg14960Ter)

SNV
Germline

Chr2:178622705

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349638734

rs_2058478213

2 SubmittersRCV001347454 RCV003169699

NM_001267550.2(TTN):c.42343C>T (p.Gln14115Ter)

SNV
Germline

Chr2:178634438

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349655057

rs_2060169705

1 SubmittersRCV001343313

NM_001267550.2(TTN):c.33827-1G>A

SNV
Germline

Chr2:178678498

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349532868

rs_2068604683

1 SubmittersRCV001346395

NM_001267550.2(TTN):c.30598+1G>C

SNV
Germline

Chr2:178701527

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349567725

rs_2075001826

1 SubmittersRCV001350085

NM_001267550.2(TTN):c.21961+1G>C

SNV
Germline

Chr2:178723045

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349530027

rs_2078690809

1 SubmittersRCV001340763

NM_001267550.2(TTN):c.12850C>T (p.Gln4284Ter)

SNV
Germline

Chr2:178740383

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349610150

rs_2082282118

1 SubmittersRCV001341278

NM_001267550.2(TTN):c.3457G>T (p.Glu1153Ter)

SNV
Germline

Chr2:178781187

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349483371

rs_2092730732

1 SubmittersRCV001350100

NM_001267550.2(TTN):c.1489G>T (p.Glu497Ter)

SNV
Germline

Chr2:178793451

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349512971

rs_1185562018

3 SubmittersRCV001349789 RCV004017821 RCV006279624

NM_001130987.2(DYSF):c.3446C>A (p.Ser1149Tyr)

SNV
Germline

Chr2:71589636

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA49761609

rs_959125009

4 SubmittersRCV001344867 RCV001831109 RCV004036438 RCV003145594

NM_021942.6(TRAPPC11):c.2145A>C (p.Glu715Asp)

SNV
Germline

Chr4:183693055

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type R18
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3152114

rs_139034513

3 SubmittersRCV001347802 RCV005645265

NM_012470.4(TNPO3):c.1841G>A (p.Arg614His)

SNV
Germline

Chr7:128982266

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4478048

rs_781272417

2 SubmittersRCV001347324 RCV003235556

NM_201384.3(PLEC):c.13529G>T (p.Gly4510Val)

SNV
Germline

Chr8:143916292

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4923764

rs_782174299

4 SubmittersRCV001341465 RCV002546932 RCV001786477

NM_201384.3(PLEC):c.8492G>A (p.Arg2831Gln)

SNV
Germline

Chr8:143921329

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925290

rs_377604549

4 SubmittersRCV001349254 RCV003132449 RCV005702543

NM_001077365.2(POMT1):c.1576G>A (p.Glu526Lys)

SNV
Germline

Chr9:131519478

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375312967

rs_1949475355

2 SubmittersRCV001350879 RCV001773704

NM_020964.3(EPG5):c.6292G>T (p.Val2098Phe)

SNV
Germline

Chr18:45867682

Conflicting classifications of pathogenicity

Vici syndrome
Inborn genetic diseases
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA8948309

rs_377726262

3 SubmittersRCV001348902 RCV004036567 RCV005626409

NM_201384.3(PLEC):c.3850C>T (p.Leu1284Phe)

SNV
Germline

Chr8:143927072

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4926875

rs_782169513

2 SubmittersRCV001352836 RCV002548489

NM_001267550.2(TTN):c.105834G>C (p.Gln35278His)

SNV
Germline

Chr2:178530781

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1985200

rs_758094020

3 SubmittersRCV001361465 RCV002413857 RCV005405578

NM_001267550.2(TTN):c.46697-1G>T

SNV
Germline

Chr2:178618854

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349622741

rs_2154209955

1 SubmittersRCV001372306

NM_001267550.2(TTN):c.46696+1G>T

SNV
Germline

Chr2:178619620

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349622750

rs_1064796987

2 SubmittersRCV001360510 RCV004036767

NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter)

SNV
Germline

Chr2:178619714

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349623238

rs_764654357

4 SubmittersRCV001370705 RCV002413886 RCV003237356 RCV006457066

NM_001267550.2(TTN):c.45349+1G>A

SNV
Germline

Chr2:178621474

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349635036

rs_2154211977

1 SubmittersRCV001373884

NM_001267550.2(TTN):c.43750G>T (p.Gly14584Ter)

SNV
Germline

Chr2:178631298

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349647549

rs_2154220286

1 SubmittersRCV001371668

NM_001267550.2(TTN):c.42097G>T (p.Glu14033Ter)

SNV
Germline

Chr2:178634777

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349655913

rs_2154228367

1 SubmittersRCV001359059

NM_001267550.2(TTN):c.42024+1G>C

SNV
Germline

Chr2:178635164

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349656200

rs_2154228980

1 SubmittersRCV001368218

NM_001267550.2(TTN):c.34837G>T (p.Glu11613Ter)

SNV
Germline

Chr2:178672653

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA1997962

rs_766945794

1 SubmittersRCV001364756

NM_001267550.2(TTN):c.34786+1G>T

SNV
Germline

Chr2:178673632

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Conflicting Classifications

CA60979323

rs_879010418

2 SubmittersRCV001373001 RCV002499765

NM_001267550.2(TTN):c.28499C>G (p.Ser9500Ter)

SNV
Germline

Chr2:178709820

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349592493

rs_2154294487

1 SubmittersRCV001372550

NM_001267550.2(TTN):c.26067C>G (p.Tyr8689Ter)

SNV
Germline

Chr2:178715119

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349474970

rs_377125716

1 SubmittersRCV001370009

NM_001267550.2(TTN):c.25639+2T>G

SNV
Germline

Chr2:178717093

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2000183

rs_769452066

2 SubmittersRCV001360632 RCV002224078

NM_001267550.2(TTN):c.24890G>A (p.Trp8297Ter)

SNV
Germline

Chr2:178718116

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349495318

rs_2154299355

1 SubmittersRCV001364316

NM_001267550.2(TTN):c.23098+1G>T

SNV
Germline

Chr2:178720920

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Conflicting Classifications

CA349516212

rs_2154300949

2 SubmittersRCV001364829 RCV002499739

NM_001267550.2(TTN):c.21116-1G>A

SNV
Germline

Chr2:178724144

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA2001073

rs_771575556

1 SubmittersRCV001362115

NM_001267550.2(TTN):c.19306G>T (p.Glu6436Ter)

SNV
Germline

Chr2:178728620

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349556451

rs_267599063

1 SubmittersRCV001366012

NM_001267550.2(TTN):c.17967C>G (p.Tyr5989Ter)

SNV
Germline

Chr2:178730566

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349568088

rs_2154308240

1 SubmittersRCV001360664

NM_001267550.2(TTN):c.15324G>A (p.Trp5108Ter)

SNV
Germline

Chr2:178734500

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60981455

rs_755339616

1 SubmittersRCV001366202

NM_001267550.2(TTN):c.9270G>A (p.Trp3090Ter)

SNV
Germline

Chr2:178768049

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349675539

rs_2154341535

1 SubmittersRCV001372684

NM_001267550.2(TTN):c.7450C>T (p.Gln2484Ter)

SNV
Germline

Chr2:178773606

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349680262

rs_2091844239

1 SubmittersRCV001360589

NM_001267550.2(TTN):c.3664C>T (p.Gln1222Ter)

SNV
Germline

Chr2:178780065

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349482336

rs_1227198694

2 SubmittersRCV001366711 RCV003327511

NM_001267550.2(TTN):c.3344G>A (p.Trp1115Ter)

SNV
Germline

Chr2:178782248

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349486198

rs_2154349662

1 SubmittersRCV001366295

NM_001130987.2(DYSF):c.1702G>A (p.Val568Met)

SNV
Germline

Chr2:71551616

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705910

rs_771062534

3 SubmittersRCV001364685 RCV001826032 RCV003145621

NM_001130987.2(DYSF):c.4636A>C (p.Thr1546Pro)

SNV
Germline

Chr2:71656171

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA347219314

rs_2094765878

5 SubmittersRCV001367502 RCV001831276 RCV005409815 RCV005409814 RCV005634115

NM_201384.3(PLEC):c.9295G>A (p.Glu3099Lys)

SNV
Germline

Chr8:143920526

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA4925009

rs_782532815

3 SubmittersRCV001581101 RCV001367102

NM_000070.3(CAPN3):c.379+3A>T

SNV
Germline

Chr15:42384555

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA2499222920

rs_1164215001

1 SubmittersRCV001362667

NM_000023.4(SGCA):c.203G>A (p.Gly68Glu)

SNV
Germline

Chr17:50167627

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400177350

rs_2144494148

1 SubmittersRCV001360645

NM_000023.4(SGCA):c.695G>A (p.Cys232Tyr)

SNV
Germline

Chr17:50169202

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400180827

rs_2144498403

1 SubmittersRCV001360119

NM_017739.4(POMGNT1):c.1813C>A (p.Arg605Ser)

SNV
Germline

Chr1:46189540

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA340171031

rs_886044567

3 SubmittersRCV001378149 RCV004587149 RCV005014515

NM_017739.4(POMGNT1):c.1649+1G>A

SNV
Germline

Chr1:46190472

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833286

rs_752700398

3 SubmittersRCV001378427 RCV002550248 RCV005023125

NM_017739.4(POMGNT1):c.1605-2A>T

SNV
Germline

Chr1:46190519

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340171853

rs_2148172518

1 SubmittersRCV001378957

NM_017739.4(POMGNT1):c.1110+1G>A

SNV
Germline

Chr1:46193304

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
POMGNT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340179685

rs_1657940058

3 SubmittersRCV001377208 RCV003462946 RCV004531186

NM_017739.4(POMGNT1):c.235+2T>C

SNV
Germline

Chr1:46196968

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340191797

rs_2148218654

1 SubmittersRCV001377653

NM_001267550.2(TTN):c.107789G>A (p.Trp35930Ter)

SNV
Germline

Chr2:178527199

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349399090

rs_1278698690

1 SubmittersRCV001379287

NM_001267550.2(TTN):c.106279C>T (p.Gln35427Ter)

SNV
Germline

Chr2:178530336

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349406340

rs_1285334952

2 SubmittersRCV001379866 RCV002469387

NM_001267550.2(TTN):c.101687C>A (p.Ser33896Ter)

SNV
Germline

Chr2:178534928

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349419871

rs_376813674

2 SubmittersRCV001377487 RCV003235567

NM_001267550.2(TTN):c.101208G>A (p.Trp33736Ter)

SNV
Germline

Chr2:178535407

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349421297

rs_1559047711

2 SubmittersRCV001379823 RCV003237357

NM_001267550.2(TTN):c.99610G>T (p.Glu33204Ter)

SNV
Germline

Chr2:178537597

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349427847

rs_1490008675

1 SubmittersRCV001379979

NM_001267550.2(TTN):c.99289+1G>C

SNV
Germline

Chr2:178538539

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349430524

rs_2154139165

3 SubmittersRCV001379057 RCV002377563 RCV005645271

NM_001267550.2(TTN):c.98803G>T (p.Glu32935Ter)

SNV
Germline

Chr2:178539132

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349431604

rs_1407053984

1 SubmittersRCV001377379

NM_001267550.2(TTN):c.96937C>T (p.Gln32313Ter)

SNV
Germline

Chr2:178542917

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349444239

rs_1695289576

1 SubmittersRCV001377999

NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter)

SNV
Germline

Chr2:178543304

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
6 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349446108

rs_2154143423

4 SubmittersRCV001379887 RCV002377564 RCV002499786 RCV003319470

NM_001267550.2(TTN):c.95872C>T (p.Arg31958Ter)

SNV
Germline

Chr2:178544357

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349456554

rs_2154144218

3 SubmittersRCV001378435 RCV003486981 RCV004037633

NM_001267550.2(TTN):c.95723-2A>C

SNV
Germline

Chr2:178544508

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349458535

rs_2154144335

2 SubmittersRCV001378230 RCV004037632

NM_001267550.2(TTN):c.91025C>A (p.Ser30342Ter)

SNV
Germline

Chr2:178551875

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349504453

rs_2154150847

1 SubmittersRCV001378841

NM_001267550.2(TTN):c.90910A>T (p.Arg30304Ter)

SNV
Germline

Chr2:178551990

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA1987724

rs_773538148

1 SubmittersRCV001378376

NM_001267550.2(TTN):c.90058G>T (p.Glu30020Ter)

SNV
Germline

Chr2:178552842

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349514024

rs_1699956677

1 SubmittersRCV001378904

NM_001267550.2(TTN):c.89827A>T (p.Lys29943Ter)

SNV
Germline

Chr2:178553073

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349515583

rs_2154151737

1 SubmittersRCV001377194

NM_001267550.2(TTN):c.89335G>T (p.Glu29779Ter)

SNV
Germline

Chr2:178553670

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349519194

rs_2154152175

1 SubmittersRCV001378386

NM_001267550.2(TTN):c.84405T>G (p.Tyr28135Ter)

SNV
Germline

Chr2:178561727

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349560198

rs_756176112

1 SubmittersRCV001376778

NM_001267550.2(TTN):c.83971C>T (p.Gln27991Ter)

SNV
Germline

Chr2:178562161

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349563236

rs_1703920233

2 SubmittersRCV001378752 RCV005054368

NM_001267550.2(TTN):c.80850C>A (p.Tyr26950Ter)

SNV
Germline

Chr2:178565282

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349585766

rs_794729291

1 SubmittersRCV001378803

NM_001267550.2(TTN):c.79882C>T (p.Arg26628Ter)

SNV
Germline

Chr2:178566250

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Single Submitter

CA349593133

rs_1373472758

2 SubmittersRCV001378796 RCV004728695

NM_001267550.2(TTN):c.79273A>T (p.Lys26425Ter)

SNV
Germline

Chr2:178566859

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349598302

rs_1706063163

1 SubmittersRCV001376993

NM_001267550.2(TTN):c.77263C>T (p.Gln25755Ter)

SNV
Germline

Chr2:178568869

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349611575

rs_2154167332

2 SubmittersRCV001376930 RCV004764964

NM_001267550.2(TTN):c.76722T>A (p.Tyr25574Ter)

SNV
Germline

Chr2:178569410

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349614277

rs_55696153

1 SubmittersRCV001378499

NM_001267550.2(TTN):c.76356G>A (p.Trp25452Ter)

SNV
Germline

Chr2:178569776

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349615774

rs_2154168035

2 SubmittersRCV001379572 RCV006352230

NM_001267550.2(TTN):c.75148G>T (p.Glu25050Ter)

SNV
Germline

Chr2:178570984

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349628602

rs_770754919

1 SubmittersRCV001379815

NM_001267550.2(TTN):c.73426G>T (p.Glu24476Ter)

SNV
Germline

Chr2:178572706

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349642203

rs_760487688

1 SubmittersRCV001379355

NM_001267550.2(TTN):c.73285G>T (p.Glu24429Ter)

SNV
Germline

Chr2:178572847

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349642799

rs_373773552

1 SubmittersRCV001376769

NM_001267550.2(TTN):c.72730G>T (p.Gly24244Ter)

SNV
Germline

Chr2:178573402

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349645833

rs_1708937897

1 SubmittersRCV001377500

NM_001267550.2(TTN):c.70936A>T (p.Lys23646Ter)

SNV
Germline

Chr2:178575196

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349660118

rs_2154172066

1 SubmittersRCV001379826

NM_001267550.2(TTN):c.69479G>A (p.Trp23160Ter)

SNV
Germline

Chr2:178576765

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349667954

rs_2154173285

1 SubmittersRCV001379193

NM_001267550.2(TTN):c.68875A>T (p.Lys22959Ter)

SNV
Germline

Chr2:178577460

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349670967

rs_2154173767

1 SubmittersRCV001378859

NM_001267550.2(TTN):c.65437C>T (p.Gln21813Ter)

SNV
Germline

Chr2:178583745

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA349434186

rs_1575960580

2 SubmittersRCV001378335 RCV004528494

NM_001267550.2(TTN):c.64094-1G>C

SNV
Germline

Chr2:178586808

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349443997

rs_2154181635

1 SubmittersRCV001378893

NM_001267550.2(TTN):c.59994G>A (p.Trp19998Ter)

SNV
Germline

Chr2:178591825

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349487989

rs_2154185221

2 SubmittersRCV001377915 RCV006251041

NM_001267550.2(TTN):c.58545T>A (p.Tyr19515Ter)

SNV
Germline

Chr2:178593755

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349504772

rs_1195475569

1 SubmittersRCV001376887

NM_001267550.2(TTN):c.57603C>A (p.Cys19201Ter)

SNV
Germline

Chr2:178595751

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349516469

rs_1418030810

3 SubmittersRCV001379705 RCV003148987

NM_001267550.2(TTN):c.57112-1G>C

SNV
Germline

Chr2:178598059

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349523349

rs_2154190178

1 SubmittersRCV001379092

NM_001267550.2(TTN):c.57112-1G>A

SNV
Germline

Chr2:178598059

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349523353

rs_2154190178

1 SubmittersRCV001379635

NM_001267550.2(TTN):c.56089G>T (p.Glu18697Ter)

SNV
Germline

Chr2:178599812

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349534970

rs_1391010387

2 SubmittersRCV001378563 RCV002438884

NM_001267550.2(TTN):c.56051-1G>A

SNV
Germline

Chr2:178599851

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349535223

rs_1385817640

3 SubmittersRCV001378097 RCV002493918 RCV004728694

NM_001267550.2(TTN):c.55734T>A (p.Tyr18578Ter)

SNV
Germline

Chr2:178601170

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349538176

rs_2154192691

1 SubmittersRCV001376743

NM_001267550.2(TTN):c.54378T>A (p.Tyr18126Ter)

SNV
Germline

Chr2:178604711

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349553522

rs_769624146

2 SubmittersRCV001379628 RCV005298827

NM_001267550.2(TTN):c.53824G>T (p.Glu17942Ter)

SNV
Germline

Chr2:178605471

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349560468

rs_2054564830

2 SubmittersRCV001379048 RCV004764967

NM_001267550.2(TTN):c.53206C>T (p.Arg17736Ter)

SNV
Germline

Chr2:178607482

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349566033

rs_571702144

4 SubmittersRCV001376964 RCV002051941 RCV002432058 RCV004764965

NM_001267550.2(TTN):c.53047C>T (p.Gln17683Ter)

SNV
Germline

Chr2:178607641

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349568655

rs_2154197059

1 SubmittersRCV001379147

NM_001267550.2(TTN):c.52077A>T (p.Lys17359Asn)

SNV
Germline

Chr2:178609233

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349577455

rs_1167384081

1 SubmittersRCV001378879

NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter)

SNV
Germline

Chr2:178609756

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA1994149

rs_748956593

5 SubmittersRCV001378033 RCV002291754 RCV002432062 RCV004545824 RCV004764966

NM_001267550.2(TTN):c.50857+1G>A

SNV
Germline

Chr2:178611371

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349591689

rs_2154199718

1 SubmittersRCV001379669

NM_001267550.2(TTN):c.50316G>A (p.Trp16772Ter)

SNV
Germline

Chr2:178612095

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349597116

rs_1433307898

1 SubmittersRCV001379677

NM_001267550.2(TTN):c.50016G>A (p.Trp16672Ter)

SNV
Germline

Chr2:178612509

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349599777

rs_2154200433

1 SubmittersRCV001378994

NM_001267550.2(TTN):c.49970G>A (p.Trp16657Ter)

SNV
Germline

Chr2:178612555

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349600110

rs_2154200456

1 SubmittersRCV001377032

NM_001267550.2(TTN):c.47797A>T (p.Arg15933Ter)

SNV
Germline

Chr2:178617198

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349613288

rs_2057499255

2 SubmittersRCV001379558 RCV003169940

NM_001267550.2(TTN):c.47314C>T (p.Arg15772Ter)

SNV
Germline

Chr2:178618037

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Primary familial dilated cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349618035

rs_2154209202

5 SubmittersRCV001376746 RCV002282533 RCV003331139 RCV005503133 RCV006605340

NM_021971.4(GMPPB):c.769-2A>G

SNV
Germline

Chr3:49722149

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

CA352827878

rs_2080423660

1 SubmittersRCV001377618

NM_001077365.2(POMT1):c.427+1G>A

SNV
Germline

Chr9:131507515

Pathogenic

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Single Submitter

CA5293261

rs_760071332

1 SubmittersRCV001378932

NM_001077365.2(POMT1):c.1176-2A>G

SNV
Germline

Chr9:131515424

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Thyroid cancer, nonmedullary, 1
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA5293574

rs_746523421

5 SubmittersRCV001377161 RCV001780280 RCV003462945 RCV005912588 RCV005912587

NM_000231.3(SGCG):c.386-2A>C

SNV
Germline

Chr13:23279357

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA387503847

rs_886042757

4 SubmittersRCV001379346

NM_000070.3(CAPN3):c.945+1G>T

SNV
Germline

Chr15:42390097

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA391998728

rs_1375420170

2 SubmittersRCV001379391 RCV005005907

NM_000070.3(CAPN3):c.2185-16A>G

SNV
Germline

Chr15:42410572

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA618001608

rs_1339644598

2 SubmittersRCV001378423 RCV001587385

NM_000070.3(CAPN3):c.2380+1G>A

SNV
Germline

Chr15:42411001

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA392002216

rs_1555423222

2 SubmittersRCV001378804

NM_000023.4(SGCA):c.37+1G>C

SNV
Germline

Chr17:50166078

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA400210792

rs_111386656

2 SubmittersRCV001377955

NM_000023.4(SGCA):c.957-1G>T

SNV
Germline

Chr17:50170639

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA400182328

rs_2144502043

4 SubmittersRCV001377786

NM_024301.5(FKRP):c.229C>T (p.Gln77Ter)

SNV
Germline

Chr19:46755679

Pathogenic/Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA309099226

rs_1051900223

3 SubmittersRCV001379447 RCV001826153 RCV002447504

NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter)

SNV
Germline

Chr1:179907856

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Conflicting Classifications

CA343568533

rs_2148480016

2 SubmittersRCV001387848

NM_017739.4(POMGNT1):c.595C>T (p.Gln199Ter)

SNV
Germline

Chr1:46194901

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340186900

rs_908815575

1 SubmittersRCV001385029

NM_001267550.2(TTN):c.67348C>T (p.Gln22450Ter)

SNV
Germline

Chr2:178579939

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349423953

rs_1403485272

4 SubmittersRCV001387316 RCV002357293 RCV004720893 RCV004764968

NM_004393.6(DAG1):c.41C>A (p.Ser14Ter)

SNV
Germline

Chr3:49510575

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P
Nonpapillary renal cell carcinoma
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA352800031

rs_2131107

2 SubmittersRCV001386974 RCV005912648 RCV005912649

NM_000232.5(SGCB):c.325C>T (p.Arg109Ter)

SNV
Germline

Chr4:52029782

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2918436

rs_750773622

5 SubmittersRCV001390947 RCV002473291

NM_000232.5(SGCB):c.261G>A (p.Trp87Ter)

SNV
Germline

Chr4:52029846

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Single Submitter

CA356877530

rs_2109372060

1 SubmittersRCV001390088

NM_000232.5(SGCB):c.82G>T (p.Glu28Ter)

SNV
Germline

Chr4:52033592

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA2918508

rs_771814273

3 SubmittersRCV001387067

NM_001101426.4(CRPPA):c.550C>T (p.Arg184Ter)

SNV
Germline

Chr7:16376226

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Multiple Submitters
No Conflicts

CA4169570

rs_370499190

3 SubmittersRCV001390079 RCV001780375 RCV005867009

NM_201384.3(PLEC):c.13106C>A (p.Ser4369Ter)

SNV
Germline

Chr8:143916715

Pathogenic

Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

CA372476709

rs_1554669959

1 SubmittersRCV001386622

NM_201384.3(PLEC):c.12418C>T (p.Arg4140Ter)

SNV
Germline

Chr8:143917403

Pathogenic

Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

CA372482070

rs_1554671979

1 SubmittersRCV001381862

NM_201384.3(PLEC):c.7336G>T (p.Glu2446Ter)

SNV
Germline

Chr8:143922593

Pathogenic

Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

CA372526078

rs_376827900

1 SubmittersRCV001384546

NM_032237.5(POMK):c.43C>T (p.Arg15Ter)

SNV
Germline

Chr8:43103591

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

Criteria Provided
Multiple Submitters
No Conflicts

CA4736177

rs_774013796

2 SubmittersRCV001389788 RCV003985100

NM_213599.3(ANO5):c.823C>T (p.Gln275Ter)

SNV
Germline

Chr11:22239629

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379920492

rs_766994696

1 SubmittersRCV001390467

NM_213599.3(ANO5):c.1690C>T (p.Gln564Ter)

SNV
Germline

Chr11:22262188

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379922602

rs_2133747657

1 SubmittersRCV001385937

NM_213599.3(ANO5):c.1924C>T (p.Arg642Ter)

SNV
Germline

Chr11:22270337

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA5923409

rs_146341538

1 SubmittersRCV001389595

NM_000231.3(SGCG):c.298-1G>A

SNV
Germline

Chr13:23250629

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA387501518

rs_79500874

2 SubmittersRCV001387160

NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)

SNV
Germline

Chr13:23295420

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA387504270

rs_1881865054

4 SubmittersRCV001390777

NM_013382.7(POMT2):c.1555G>T (p.Glu519Ter)

SNV
Germline

Chr14:77284971

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390516843

rs_1379963762

1 SubmittersRCV001387185

NM_013382.7(POMT2):c.1237C>T (p.Arg413Ter)

SNV
Germline

Chr14:77288778

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Multiple Submitters
No Conflicts

CA390518244

rs_773017813

2 SubmittersRCV001386284 RCV003473965

NM_000070.3(CAPN3):c.286C>T (p.Gln96Ter)

SNV
Germline

Chr15:42360091

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391995242

rs_1476836379

1 SubmittersRCV001389563

NM_000070.3(CAPN3):c.389G>A (p.Trp130Ter)

SNV
Germline

Chr15:42386176

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391997486

rs_2141160443

1 SubmittersRCV001380498

NM_000070.3(CAPN3):c.1999G>T (p.Glu667Ter)

SNV
Germline

Chr15:42409793

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392001331

rs_2141221307

1 SubmittersRCV001384539

NM_000023.4(SGCA):c.70C>T (p.Gln24Ter)

SNV
Germline

Chr17:50167400

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA400176463

rs_2144493135

2 SubmittersRCV001380121

NM_000023.4(SGCA):c.402C>A (p.Tyr134Ter)

SNV
Germline

Chr17:50168390

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400179800

rs_780264754

1 SubmittersRCV001380152

NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr)

SNV
Germline

Chr9:131511460

Conflicting classifications of pathogenicity

Ventriculomegaly
Abnormal brainstem morphology
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA5293480

rs_757984572

3 SubmittersRCV001391255 RCV003132493 RCV005040272

NM_017739.4(POMGNT1):c.1070A>T (p.Gln357Leu)

SNV
Germline

Chr1:46193345

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA833504

rs_374871234

2 SubmittersRCV001396196 RCV005635152

NM_001267550.2(TTN):c.107301C>T (p.Ser35767=)

SNV
Germline

Chr2:178528350

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA430234551

rs_1558965303

4 SubmittersRCV001401533 RCV002420896 RCV005635154 RCV005912685

NM_001267550.2(TTN):c.94530A>G (p.Pro31510=)

SNV
Germline

Chr2:178546898

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60972659

rs_902954756

3 SubmittersRCV001396602 RCV003311986

NM_001267550.2(TTN):c.93603C>T (p.Phe31201=)

SNV
Germline

Chr2:178548023

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987275

rs_765759269

3 SubmittersRCV001410756 RCV003136070 RCV003284309

NM_001267550.2(TTN):c.46155C>A (p.Leu15385=)

SNV
Germline

Chr2:178620366

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430275322

rs_1394331445

2 SubmittersRCV001405418 RCV003136068

NM_001267550.2(TTN):c.44815+7A>G

SNV
Germline

Chr2:178624458

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1995570

rs_758417150

2 SubmittersRCV001407817 RCV003150426

NM_001267550.2(TTN):c.43086+7C>G

SNV
Germline

Chr2:178633180

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA761290948

rs_1378945842

2 SubmittersRCV001416244 RCV005635157

NM_001267550.2(TTN):c.26529G>A (p.Thr8843=)

SNV
Germline

Chr2:178714129

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999977

rs_747558822

3 SubmittersRCV001402328 RCV002292636

NM_001267550.2(TTN):c.16904-4G>A

SNV
Germline

Chr2:178731975

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001945

rs_778611530

2 SubmittersRCV001404155 RCV005635155

NM_004393.6(DAG1):c.1251T>C (p.Ala417=)

SNV
Germline

Chr3:49531762

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
not specified

Criteria Provided
Conflicting Classifications

CA433839983

rs_2107935604

2 SubmittersRCV001394790 RCV001820091

NM_021971.4(GMPPB):c.951+7C>A

SNV
Germline

Chr3:49721958

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

CA74541358

rs_973900671

2 SubmittersRCV001410594 RCV001751759

NM_000232.5(SGCB):c.111C>T (p.Asn37=)

SNV
Germline

Chr4:52033563

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Conflicting Classifications

CA439274801

rs_2109376000

2 SubmittersRCV001396067

NM_001267550.2(TTN):c.98684-9T>C

SNV
Germline

Chr2:178539260

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1986328

rs_767607825

2 SubmittersRCV001425528 RCV003486986

NM_001267550.2(TTN):c.95416+8T>C

SNV
Germline

Chr2:178545812

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1986961

rs_373857496

3 SubmittersRCV001434003 RCV006453684 RCV005642557

NM_001267550.2(TTN):c.86445C>G (p.Ala28815=)

SNV
Germline

Chr2:178559687

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430248043

rs_1459326742

3 SubmittersRCV001436481 RCV003136076 RCV005762302

NM_001267550.2(TTN):c.77746T>C (p.Leu25916=)

SNV
Germline

Chr2:178568386

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430253299

rs_1243488306

2 SubmittersRCV001438474 RCV003136077

NM_001267550.2(TTN):c.75342T>C (p.Asp25114=)

SNV
Germline

Chr2:178570790

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430255393

rs_1707914737

2 SubmittersRCV001434732 RCV003136075

NM_001267550.2(TTN):c.57848-5C>T

SNV
Germline

Chr2:178594651

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1992977

rs_764245090

3 SubmittersRCV001440289 RCV003150430 RCV006352269

NM_001267550.2(TTN):c.42684G>A (p.Glu14228=)

SNV
Germline

Chr2:178633675

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA61004608

rs_975916529

2 SubmittersRCV001434366 RCV004038327

NM_001267550.2(TTN):c.34787-5T>C

SNV
Germline

Chr2:178672708

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA538094225

rs_1488977812

2 SubmittersRCV001447048 RCV002466676

NM_001267550.2(TTN):c.296-5C>T

SNV
Germline

Chr2:178800687

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2006345

rs_374923808

2 SubmittersRCV001430186 RCV002439000

NM_017739.4(POMGNT1):c.1788C>T (p.Cys596=)

SNV
Germline

Chr1:46189565

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA833225

rs_376973640

2 SubmittersRCV001459630 RCV004812410

NM_001267550.2(TTN):c.104250T>C (p.His34750=)

SNV
Germline

Chr2:178532365

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1985453

rs_745463889

3 SubmittersRCV001458726 RCV003136079 RCV004681194

NM_001267550.2(TTN):c.100662G>A (p.Gln33554=)

SNV
Germline

Chr2:178536085

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60960621

rs_1036339690

3 SubmittersRCV001462560 RCV002384738 RCV003136082

NM_001267550.2(TTN):c.95082C>T (p.Ser31694=)

SNV
Germline

Chr2:178546249

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1987024

rs_776679937

3 SubmittersRCV001467919 RCV002368434 RCV003136084

NM_001267550.2(TTN):c.63794-5T>A

SNV
Germline

Chr2:178587422

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA538435518

rs_767131398

3 SubmittersRCV001450379 RCV001806186 RCV004681186

NM_001267550.2(TTN):c.53882-5T>G

SNV
Germline

Chr2:178605300

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430270019

rs_1369648014

2 SubmittersRCV001461732 RCV003136081

NM_001267550.2(TTN):c.44284C>A (p.Arg14762=)

SNV
Germline

Chr2:178629441

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1995681

rs_770767998

3 SubmittersRCV001460507 RCV003298799 RCV004774449

NM_001267550.2(TTN):c.40281A>G (p.Glu13427=)

SNV
Germline

Chr2:178646501

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430101607

rs_2154244709

2 SubmittersRCV001457026 RCV005628912

NM_001267550.2(TTN):c.13839G>A (p.Val4613=)

SNV
Germline

Chr2:178739394

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA430295380

rs_1307850717

2 SubmittersRCV001466677 RCV001799088

NM_201384.3(PLEC):c.9840C>T (p.Thr3280=)

SNV
Germline

Chr8:143919981

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4924834

rs_375274969

2 SubmittersRCV001455143 RCV003130521

NM_201378.4(PLEC):c.70+2T>C

SNV
Germline

Chr8:143973401

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA372487851

rs_2132991287

2 SubmittersRCV001455587 RCV006435214

NM_000070.3(CAPN3):c.1062G>A (p.Val354=)

SNV
Germline

Chr15:42394288

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA7511238

rs_776793553

2 SubmittersRCV001470171 RCV001559254

NM_001267550.2(TTN):c.74262A>G (p.Val24754=)

SNV
Germline

Chr2:178571870

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1990220

rs_745865847

3 SubmittersRCV001489890 RCV002334519 RCV003136088

NM_001267550.2(TTN):c.57441C>T (p.Ser19147=)

SNV
Germline

Chr2:178597641

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430095222

rs_2052069695

2 SubmittersRCV001485773 RCV003136087

NM_001267550.2(TTN):c.40989T>C (p.Ser13663=)

SNV
Germline

Chr2:178636738

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996328

rs_369178648

4 SubmittersRCV001490443 RCV002384807 RCV003136089

NM_201384.3(PLEC):c.5241G>A (p.Thr1747=)

SNV
Germline

Chr8:143924688

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA463534546

rs_1216335768

2 SubmittersRCV001493080 RCV003136090

NM_201384.3(PLEC):c.5191C>T (p.Leu1731=)

SNV
Germline

Chr8:143924738

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA463534611

rs_1554698837

2 SubmittersRCV001479193 RCV003130527

NM_000070.3(CAPN3):c.1395G>A (p.Leu465=)

SNV
Germline

Chr15:42401681

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA7511350

rs_760344791

2 SubmittersRCV001491110 RCV001559255

NM_001267550.2(TTN):c.101108G>A (p.Arg33703Gln)

SNV
Germline

Chr2:178535507

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985928

rs_576025689

3 SubmittersRCV001508098 RCV001865934 RCV003486993

NM_001267550.2(TTN):c.33743-14T>G

SNV
Germline

Chr2:178678844

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2499215471

rs_2154269351

2 SubmittersRCV001508119 RCV002564232

NM_001267550.2(TTN):c.26482+1G>C

SNV
Germline

Chr2:178714291

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349469020

rs_1440418037

5 SubmittersRCV001507601 RCV002567973

NM_001267550.2(TTN):c.19254G>A (p.Trp6418Ter)

SNV
Germline

Chr2:178728672

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349556809

rs_2154306627

3 SubmittersRCV001508478 RCV002564248

NM_013382.7(POMT2):c.1654-10C>T

SNV
Germline

Chr14:77280473

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
not specified

Criteria Provided
Conflicting Classifications

CA7285767

rs_754208063

2 SubmittersRCV001512091 RCV001821811

NM_000231.3(SGCG):c.128T>A (p.Leu43Ter)

SNV
Germline

Chr13:23203822

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA387502649

rs_2137501447

2 SubmittersRCV001527390

NM_201384.3(PLEC):c.8531C>T (p.Ala2844Val)

SNV
Germline

Chr8:143921290

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
PLEC-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925274

rs_550856659

5 SubmittersRCV001528097 RCV001873726 RCV004738330 RCV005453311

NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter)

SNV
Germline

Chr2:178553691

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349519330

rs_200503016

7 SubmittersRCV001530133 RCV005225415 RCV005286489

NM_001267550.2(TTN):c.64672+2T>C

SNV
Germline

Chr2:178585070

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349438511

rs_2154180290

4 SubmittersRCV001528741 RCV003771635

NM_001267550.2(TTN):c.63793+1G>A

SNV
Germline

Chr2:178587515

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349449118

rs_2154182296

4 SubmittersRCV001528621 RCV003771634 RCV006352340

NM_001267550.2(TTN):c.57378G>A (p.Trp19126Ter)

SNV
Germline

Chr2:178597704

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349521123

rs_1192054216

3 SubmittersRCV001529306 RCV002568874

NM_001267550.2(TTN):c.7855+1G>T

SNV
Germline

Chr2:178773108

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA61005907

rs_746566745

3 SubmittersRCV001528417 RCV005225413

NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter)

SNV
Germline

Chr2:178634546

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA1996118

rs_745926057

8 SubmittersRCV001531939 RCV001882587 RCV003150441 RCV006261763

NM_004393.6(DAG1):c.15G>A (p.Val5=)

SNV
Germline

Chr3:49510549

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P

Criteria Provided
Conflicting Classifications

CA433838410

rs_1405959055

2 SubmittersRCV001531396 RCV002071899

NM_001267550.2(TTN):c.102352C>T (p.Arg34118Ter)

SNV
Germline

Chr2:178534263

Likely pathogenic

Dilated cardiomyopathy 1G
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349417825

rs_1212204584

4 SubmittersRCV001537858 RCV002388580 RCV002568931 RCV006279687

NM_001130987.2(DYSF):c.3737T>C (p.Leu1246Pro)

SNV
Germline

Chr2:71598726

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA347224316

rs_2152855991

3 SubmittersRCV001873812 RCV001814396 RCV002290717

NM_001130987.2(DYSF):c.6236G>A (p.Trp2079Ter)

SNV
Germline

Chr2:71682592

Pathogenic/Likely pathogenic

Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347227156

rs_2152971975

2 SubmittersRCV001814444 RCV006453701

NM_000232.5(SGCB):c.34-1G>A

SNV
Germline

Chr4:52033641

Pathogenic/Likely pathogenic

Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA356878238

rs_1484409119

3 SubmittersRCV001814546 RCV001873815

NM_000070.3(CAPN3):c.661G>T (p.Gly221Cys)

SNV
Germline

Chr15:42388956

Pathogenic/Likely pathogenic

Abnormality of the musculature
Limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA391998099

rs_1432632972

2 SubmittersRCV001814502 RCV002512157

NM_000070.3(CAPN3):c.793T>C (p.Ser265Pro)

SNV
Germline

Chr15:42389088

Conflicting classifications of pathogenicity

Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA391998397

rs_2053485355

3 SubmittersRCV001814530 RCV003339671

NM_000070.3(CAPN3):c.1343G>T (p.Arg448Leu)

SNV
Germline

Chr15:42399641

Pathogenic

Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA391999624

rs_863224956

3 SubmittersRCV001814569 RCV003323900 RCV004571056

NM_000070.3(CAPN3):c.1502C>T (p.Thr501Ile)

SNV
Germline

Chr15:42401788

Conflicting classifications of pathogenicity

Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA391999973

rs_751104396

3 SubmittersRCV001814382 RCV001873811

NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu)

SNV
Germline

Chr2:71669680

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347223820

rs_1233961202

3 SubmittersRCV001542524 RCV005914903 RCV002568950

NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter)

SNV
Germline

Chr2:178664487

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Autosomal recessive titinopathy
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA349500017

rs_1384922524

4 SubmittersRCV001882629 RCV002305615 RCV005057506 RCV004542003

NM_001077365.2(POMT1):c.1272+1G>A

SNV
Germline

Chr9:131515523

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Multiple Submitters
No Conflicts

CA375310220

rs_2131751359

3 SubmittersRCV001553600 RCV003474006 RCV003771694

NM_000070.3(CAPN3):c.2217C>G (p.Ser739=)

SNV
Germline

Chr15:42410620

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA489885852

rs_148851444

1 SubmittersRCV001554269

NM_001267550.2(TTN):c.70831G>A (p.Ala23611Thr)

SNV
Germline

Chr2:178575301

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1990718

rs_373765469

6 SubmittersRCV001555977 RCV002329671 RCV002568993 RCV004801037

NM_201384.3(PLEC):c.7703G>A (p.Arg2568His)

SNV
Germline

Chr8:143922118

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Inborn genetic diseases
6 conditions

Criteria Provided
Conflicting Classifications

CA4925537

rs_552039931

5 SubmittersRCV001557696 RCV002568372 RCV002570717 RCV005395073

NM_201384.3(PLEC):c.5920C>G (p.Gln1974Glu)

SNV
Germline

Chr8:143924009

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926193

rs_782585525

3 SubmittersRCV001558382 RCV002032627 RCV002569002

NM_021942.6(TRAPPC11):c.404T>A (p.Val135Asp)

SNV
Germline

Chr4:183667089

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Conflicting Classifications

CA3151571

rs_141880154

2 SubmittersRCV001559467 RCV002032634

NM_000070.3(CAPN3):c.1486G>A (p.Gly496Arg)

SNV
Germline

Chr15:42401772

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA7511368

rs_761637940

4 SubmittersRCV002570733 RCV001562120 RCV003474008

NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met)

SNV
Germline

Chr2:71556047

Conflicting classifications of pathogenicity

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1706077

rs_570860273

4 SubmittersRCV001563902 RCV001563903 RCV001563944 RCV002488382 RCV002573185 RCV003146217

NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala)

SNV
Germline

Chr2:71664422

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707262

rs_753176482

2 SubmittersRCV002569021 RCV001563907 RCV001563909 RCV001563908

NM_024301.5(FKRP):c.282C>T (p.Pro94=)

SNV
Germline

Chr19:46755732

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA507975369

rs_1267805674

2 SubmittersRCV001563828 RCV001563918 RCV001563919 RCV002072148

NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)

SNV
Germline

Chr19:46756304

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy type B5
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Conflicting Classifications

CA309099522

rs_963039919

4 SubmittersRCV001563923 RCV001563925 RCV001563924 RCV001882663 RCV005409827

NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys)

SNV
Germline

Chr1:46192184

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA833368

rs_755588045

6 SubmittersRCV001565992 RCV001859407 RCV002568438 RCV003888304 RCV004770175

NM_001130987.2(DYSF):c.377C>T (p.Pro126Leu)

SNV
Germline

Chr2:71511838

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1705340

rs_372573603

5 SubmittersRCV001567007 RCV001832773 RCV002568441 RCV004039348

NM_001267550.2(TTN):c.15497-11T>G

SNV
Germline

Chr2:178733903

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2002207

rs_749940464

2 SubmittersRCV001568956 RCV002072191

NM_001267550.2(TTN):c.48313-1G>A

SNV
Germline

Chr2:178615789

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349611253

rs_2154207046

3 SubmittersRCV001573658 RCV003771744

NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)

SNV
Germline

Chr1:46193903

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA833573

rs_754653320

3 SubmittersRCV001578929 RCV001578930 RCV001578931 RCV001578932 RCV002570817 RCV005635181

NM_000231.3(SGCG):c.101G>A (p.Arg34His)

SNV
Germline

Chr13:23203795

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6909569

rs_755404457

5 SubmittersRCV001579124 RCV002275211

NM_001267550.2(TTN):c.43576C>T (p.Arg14526Ter)

SNV
Germline

Chr2:178632318

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349649946

rs_2154220622

2 SubmittersRCV001591562 RCV003771774

NM_201384.3(PLEC):c.5795C>T (p.Ala1932Val)

SNV
Germline

Chr8:143924134

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4926237

rs_201624086

3 SubmittersRCV001585411 RCV005213546 RCV005453316

NM_201384.3(PLEC):c.3784G>A (p.Gly1262Ser)

SNV
Germline

Chr8:143927308

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Inborn genetic diseases
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926930

rs_782158050

4 SubmittersRCV001582280 RCV003106241 RCV004952997 RCV004536220

NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter)

SNV
Germline

Chr8:143973407

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA372487932

rs_2132991341

2 SubmittersRCV001650502 RCV002073029

NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter)

SNV
Germline

Chr8:143921672

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA372518975

rs_1554686620

3 SubmittersRCV001650503 RCV001780422 RCV001882744

NM_001267550.2(TTN):c.59927-11T>A

SNV
Germline

Chr2:178591903

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1992572

rs_555554134

3 SubmittersRCV001665174 RCV002073042 RCV005432772

NM_001267550.2(TTN):c.65864-7C>T

SNV
Germline

Chr2:178582599

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430090294

rs_1416710271

2 SubmittersRCV001663406 RCV005213554

NM_001267550.2(TTN):c.84524G>A (p.Trp28175Ter)

SNV
Germline

Chr2:178561608

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349559569

rs_2154159874

3 SubmittersRCV001699960 RCV003771850

NM_001267550.2(TTN):c.86640C>A (p.Tyr28880Ter)

SNV
Germline

Chr2:178559492

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349542483

rs_794729298

4 SubmittersRCV001700868 RCV001866265

NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter)

SNV
Germline

Chr2:178607884

Pathogenic/Likely pathogenic

Condition: not provided
Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349569837

rs_2154197219

7 SubmittersRCV001699753 RCV001732226 RCV002539695 RCV004774461 RCV005868285

NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys)

SNV
Germline

Chr2:178613239

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA1994566

rs_779336886

7 SubmittersRCV001700579 RCV002425026 RCV005626463

NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter)

SNV
Germline

Chr2:178563877

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349574571

rs_2154161716

3 SubmittersRCV001702172 RCV003771860

NM_001267550.2(TTN):c.14722G>T (p.Glu4908Ter)

SNV
Germline

Chr2:178735724

Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005409832

NM_021971.4(GMPPB):c.827C>T (p.Pro276Leu)

SNV
Germline

Chr3:49722089

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

CA352827493

rs_766298888

1 SubmittersRCV001729998

NM_000070.3(CAPN3):c.1363T>C (p.Trp455Arg)

SNV
Germline

Chr15:42401649

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391999678

rs_2141199370

1 SubmittersRCV001730018

NM_001267550.2(TTN):c.87165T>A (p.Tyr29055Ter)

SNV
Germline

Chr2:178558189

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349538127

rs_756211633

4 SubmittersRCV001730400 RCV005225458

NM_001267550.2(TTN):c.60124C>T (p.Gln20042Ter)

SNV
Germline

Chr2:178591695

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349487075

rs_2154185146

3 SubmittersRCV001730411 RCV006557627

NM_001267550.2(TTN):c.40409-1G>A

SNV
Germline

Chr2:178644617

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Primary familial dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA349438465

rs_1285884266

4 SubmittersRCV002032713 RCV001732309 RCV005414280

NM_001267550.2(TTN):c.19715-1G>A

SNV
Germline

Chr2:178727864

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA2001346

rs_767658044

2 SubmittersRCV001861039 RCV005237957

NM_000232.5(SGCB):c.622-1G>C

SNV
Germline

Chr4:52028100

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356876337

rs_2109370093

3 SubmittersRCV001733648 RCV002508812

NM_000337.6(SGCD):c.333A>C (p.Thr111=)

SNV
Germline

Chr5:156589269

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Conflicting Classifications

CA447388041

rs_886042290

2 SubmittersRCV001760522 RCV002544023

NM_001267550.2(TTN):c.93168A>T (p.Arg31056=)

SNV
Germline

Chr2:178548458

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430243649

rs_1202181464

3 SubmittersRCV001766892 RCV002361021 RCV003771948

NM_201384.3(PLEC):c.2613-12C>G

SNV
Germline

Chr8:143930074

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927439

rs_782387123

2 SubmittersRCV001760750 RCV005225468

NM_001267550.2(TTN):c.94053G>A (p.Ser31351=)

SNV
Germline

Chr2:178547573

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1987208

rs_777229309

3 SubmittersRCV001760791 RCV002077189 RCV002361025

NM_032237.5(POMK):c.256C>T (p.Arg86Cys)

SNV
Germline

Chr8:43103804

Conflicting classifications of pathogenicity

Condition: not provided
Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4736230

rs_370978230

5 SubmittersRCV001761365 RCV001868545 RCV005465523

NM_001267550.2(TTN):c.24226+1G>A

SNV
Germline

Chr2:178719163

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349500633

rs_2154299944

2 SubmittersRCV001763939 RCV006557682

NM_000070.3(CAPN3):c.379+3A>G

SNV
Germline

Chr15:42384555

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA617603349

rs_1164215001

6 SubmittersRCV001774552 RCV002512158 RCV004571079

NM_201384.3(PLEC):c.6970C>T (p.Arg2324Ter)

SNV
Germline

Chr8:143922959

Pathogenic

Myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Multiple Submitters
No Conflicts

CA372531028

rs_1554691029

2 SubmittersRCV001775215 RCV003772109

NM_001130987.2(DYSF):c.3931C>T (p.Gln1311Ter)

SNV
Germline

Chr2:71602779

Pathogenic

Muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347226559

rs_1324430830

3 SubmittersRCV001775503 RCV001868822 RCV005614674

NM_001267550.2(TTN):c.36119-1G>C

SNV
Germline

Chr2:178664738

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349501512

rs_1239720687

2 SubmittersRCV002541106 RCV005237984

NM_000070.3(CAPN3):c.347C>A (p.Ala116Asp)

SNV
Germline

Chr15:42384520

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391997384

rs_2053335268

2 SubmittersRCV001779555

NM_058246.4(DNAJB6):c.271T>C (p.Phe91Leu)

SNV
Germline

Chr7:157367408

Pathogenic

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Multiple Submitters
No Conflicts

CA370166104

rs_869320701

3 SubmittersRCV001783133

NM_001130987.2(DYSF):c.1330A>T (p.Lys444Ter)

SNV
Germline

Chr2:71528351

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347214787

rs_2152751290

2 SubmittersRCV001783186 RCV004720317

NM_213599.3(ANO5):c.1716C>A (p.Cys572Ter)

SNV
Germline

Chr11:22262214

Pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA5923326

rs_368389717

2 SubmittersRCV001783530 RCV002034569

NM_213599.3(ANO5):c.1086T>A (p.Tyr362Ter)

SNV
Germline

Chr11:22250813

Pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA379921105

rs_139639078

2 SubmittersRCV001783598 RCV005225497

NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter)

SNV
Germline

Chr9:131509930

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Multiple Submitters
No Conflicts

CA5293362

rs_747129906

2 SubmittersRCV001784872 RCV002544255

NM_000231.3(SGCG):c.526G>T (p.Glu176Ter)

SNV
Germline

Chr13:23295435

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA6909730

rs_768134426

1 SubmittersRCV001785869

NM_032237.5(POMK):c.907C>T (p.Arg303Ter)

SNV
Germline

Chr8:43122731

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Limb-girdle muscular dystrophy due to POMK deficiency
Limb-girdle muscular dystrophy due to POMK deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4736375

rs_528307346

3 SubmittersRCV001785871 RCV001885168 RCV003458231

NM_012470.4(TNPO3):c.163C>T (p.Gln55Ter)

SNV
Germline

Chr7:129018115

Pathogenic

Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Single Submitter

CA369249113

rs_1804050408

1 SubmittersRCV001785073

NM_021971.4(GMPPB):c.129+1G>T

SNV
Germline

Chr3:49723597

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Multiple Submitters
No Conflicts

CA352831203

rs_2108213393

2 SubmittersRCV001782209 RCV003152771

NM_201384.3(PLEC):c.4468C>T (p.Arg1490Ter)

SNV
Germline

Chr8:143925461

Pathogenic/Likely pathogenic

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Multiple Submitters
No Conflicts

CA372556583

rs_1554702689

2 SubmittersRCV001782657 RCV002034606

NM_017739.4(POMGNT1):c.1623T>G (p.Tyr541Ter)

SNV
Germline

Chr1:46190499

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA340171807

rs_746196856

2 SubmittersRCV001782671 RCV001868866

NM_021942.6(TRAPPC11):c.1113+2T>G

SNV
Germline

Chr4:183680269

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Multiple Submitters
No Conflicts

CA358863689

rs_2111348918

2 SubmittersRCV001783901

NM_001267550.2(TTN):c.96420C>A (p.Tyr32140Ter)

SNV
Germline

Chr2:178543553

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349448771

rs_1009407656

2 SubmittersRCV001783953 RCV003772158

NM_001267550.2(TTN):c.70501G>T (p.Glu23501Ter)

SNV
Germline

Chr2:178575631

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349662858

rs_1709809170

3 SubmittersRCV001783966 RCV003772159 RCV005860259

NM_001267550.2(TTN):c.100171+1G>A

SNV
Germline

Chr2:178536937

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349426611

rs_1691855470

2 SubmittersRCV001783968 RCV006557719

NM_001267550.2(TTN):c.55893G>A (p.Trp18631Ter)

SNV
Germline

Chr2:178601011

Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349536839

rs_2154192598

3 SubmittersRCV001783976 RCV002440876 RCV006557720

NM_000070.3(CAPN3):c.966T>A (p.Tyr322Ter)

SNV
Germline

Chr15:42392659

Pathogenic

Condition: not provided
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA391998779

rs_2141176797

3 SubmittersRCV001784070 RCV003464143 RCV005237988

NM_000070.3(CAPN3):c.358G>A (p.Asp120Asn)

SNV
Germline

Chr15:42384531

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

rs_765935351

2 SubmittersRCV004577109 RCV004801467

NM_000070.3(CAPN3):c.743T>G (p.Met248Arg)

SNV
Germline

Chr15:42389038

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA7511100

rs_777829958

4 SubmittersRCV001784072 RCV002034610 RCV003487780 RCV005006051

NM_000070.3(CAPN3):c.352A>G (p.Arg118Gly)

SNV
Germline

Chr15:42384525

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391997392

rs_1566973583

1 SubmittersRCV002250772

NM_213599.3(ANO5):c.294+5G>A

SNV
Germline

Chr11:22221215

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA2573053480

rs_2133589044

3 SubmittersRCV001787237 RCV005213595 RCV005409837

NM_001267550.2(TTN):c.2775+1G>T

SNV
Germline

Chr2:178784069

Likely pathogenic

Tibial muscular dystrophy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA60982410

rs_1057346353

3 SubmittersRCV001787308 RCV001799128 RCV002541257

NM_001130987.2(DYSF):c.5849G>A (p.Trp1950Ter)

SNV
Germline

Chr2:71674261

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Single Submitter

CA347225292

rs_2152961374

1 SubmittersRCV001788847

NM_213599.3(ANO5):c.952G>C (p.Ala318Pro)

SNV
Germline

Chr11:22250310

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379920798

rs_2133702263

1 SubmittersRCV001794938

NM_001077365.2(POMT1):c.314G>A (p.Arg105His)

SNV
Germline

Chr9:131507401

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Multiple Submitters
No Conflicts

CA5293229

rs_1554772469

3 SubmittersRCV003772194 RCV004529018 RCV005040388

NM_001267550.2(TTN):c.51931G>T (p.Glu17311Ter)

SNV
Germline

Chr2:178609379

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349579119

rs_2154198430

3 SubmittersRCV001797950 RCV005628323 RCV006557740

NM_001267550.2(TTN):c.33994+9A>C

SNV
Germline

Chr2:178678116

Conflicting classifications of pathogenicity

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2573051797

rs_2154268922

2 SubmittersRCV001799182 RCV002077229

NM_001267550.2(TTN):c.47142T>A (p.Cys15714Ter)

SNV
Germline

Chr2:178618316

Likely pathogenic

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349619539

rs_2154209488

2 SubmittersRCV001799201 RCV006557744

NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter)

SNV
Germline

Chr2:178572193

Pathogenic/Likely pathogenic

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349636306

rs_2154169928

6 SubmittersRCV001799236 RCV001885231 RCV002334699 RCV005225503 RCV005412277

NM_001267550.2(TTN):c.103845C>G (p.Tyr34615Ter)

SNV
Germline

Chr2:178532770

Likely pathogenic

Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349413364

rs_2154134580

3 SubmittersRCV001799273 RCV002544358 RCV003163934

NM_001267550.2(TTN):c.11709T>A (p.Cys3903Ter)

SNV
Germline

Chr2:178741524

Likely pathogenic

Condition: not provided
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349619896

rs_2082478614

3 SubmittersRCV001811839 RCV003451943 RCV005225507

NM_000070.3(CAPN3):c.2309A>G (p.Tyr770Cys)

SNV
Germline

Chr15:42410929

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392002047

rs_2141225644

1 SubmittersRCV001805741

NM_001079802.2(FKTN):c.165+5G>A

SNV
Germline

Chr9:105596662

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Autosomal recessive limb-girdle muscular dystrophy type 2M

Criteria Provided
Conflicting Classifications

CA2573053078

rs_2132596368

2 SubmittersRCV001806382 RCV003339749

NM_000070.3(CAPN3):c.2312C>T (p.Ala771Val)

SNV
Germline

Chr15:42410932

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA7511829

rs_752397587

1 SubmittersRCV001808032

NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr)

SNV
Germline

Chr19:46755953

Likely pathogenic

Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Single Submitter

CA406495454

rs_554813030

1 SubmittersRCV001815627

NM_001267550.2(TTN):c.85458C>T (p.Tyr28486=)

SNV
Germline

Chr2:178560674

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA60984671

rs_978230375

4 SubmittersRCV001815899 RCV003772273 RCV005288546

NM_001267550.2(TTN):c.16508T>A (p.Leu5503Ter)

SNV
Germline

Chr2:178732553

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349583895

rs_2154310403

3 SubmittersRCV001822120 RCV003772281

NM_201384.3(PLEC):c.6018G>A (p.Ala2006=)

SNV
Germline

Chr8:143923911

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Conflicting Classifications

CA4926141

rs_782381723

2 SubmittersRCV001820621 RCV005213607

NM_017739.4(POMGNT1):c.935C>T (p.Pro312Leu)

SNV
Germline

Chr1:46193870

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA340181479

rs_2148196270

4 SubmittersRCV005225519 RCV005409025 RCV001837090 RCV004041015

NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter)

SNV
Germline

Chr1:46192148

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinal dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76

Criteria Provided
Conflicting Classifications

CA833352

rs_745343484

6 SubmittersRCV001837127 RCV002034696 RCV002542791 RCV003464155 RCV003888327 RCV005023271

NM_015602.4(TOR1AIP1):c.554-1G>A

SNV
Germline

Chr1:179889312

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Conflicting Classifications

CA33715182

rs_200993053

2 SubmittersRCV001838929

NM_001077365.2(POMT1):c.1799G>A (p.Arg600Gln)

SNV
Germline

Chr9:131521446

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5293829

rs_753485021

3 SubmittersRCV001869855 RCV001840846

NM_001267550.2(TTN):c.47701G>T (p.Glu15901Ter)

SNV
Germline

Chr2:178617384

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349613758

rs_530338718

2 SubmittersRCV006272482 RCV002025886

NM_001267550.2(TTN):c.39547+1G>A

SNV
Germline

Chr2:178651452

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349454982

rs_1335572575

1 SubmittersRCV001944925

NM_024301.5(FKRP):c.646C>T (p.Arg216Trp)

SNV
Germline

Chr19:46756096

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2I
not specified

Criteria Provided
Conflicting Classifications

CA406495729

rs_2054912295

4 SubmittersRCV001977891 RCV002361338 RCV002464501 RCV003331255

NM_001267550.2(TTN):c.93139C>T (p.Arg31047Ter)

SNV
Germline

Chr2:178548487

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349487589

rs_1416323929

3 SubmittersRCV001995483 RCV003365618 RCV004729007

NM_001267550.2(TTN):c.84602G>A (p.Trp28201Ter)

SNV
Germline

Chr2:178561530

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349559104

rs_2154159779

1 SubmittersRCV002035827

NM_001267550.2(TTN):c.12472C>T (p.Gln4158Ter)

SNV
Germline

Chr2:178740761

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349614975

rs_745720217

1 SubmittersRCV002035907

NM_001267550.2(TTN):c.12259G>T (p.Glu4087Ter)

SNV
Germline

Chr2:178740974

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349615893

rs_2154318496

1 SubmittersRCV001975337

NM_001130987.2(DYSF):c.3228+1G>C

SNV
Germline

Chr2:71570742

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347217179

rs_2092371566

2 SubmittersRCV002028017 RCV005868549

NM_021942.6(TRAPPC11):c.3189+1G>A

SNV
Germline

Chr4:183706941

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Conflicting Classifications

CA358874871

rs_1170374164

2 SubmittersRCV002034247

NM_013382.7(POMT2):c.1253+1G>A

SNV
Germline

Chr14:77288761

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390518119

rs_1475161693

1 SubmittersRCV002046466

NM_013382.7(POMT2):c.2108T>C (p.Val703Ala)

SNV
Germline

Chr14:77278433

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7285544

rs_770189006

3 SubmittersRCV001923270 RCV005465600 RCV005635305

NM_000070.3(CAPN3):c.1345A>G (p.Asn449Asp)

SNV
Germline

Chr15:42399643

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA391999625

rs_886043144

2 SubmittersRCV001924937

NM_001267550.2(TTN):c.46429+1G>T

SNV
Germline

Chr2:178619987

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349626552

rs_2154210677

2 SubmittersRCV001990600 RCV004719212

NM_001267550.2(TTN):c.87939T>G (p.Tyr29313Ter)

SNV
Germline

Chr2:178557323

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349532892

rs_200314496

3 SubmittersRCV002352771 RCV002038965 RCV004671631

NM_001267550.2(TTN):c.106996C>T (p.Gln35666Ter)

SNV
Germline

Chr2:178528755

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349402282

rs_750660824

1 SubmittersRCV002046323

NM_001267550.2(TTN):c.55399C>T (p.Gln18467Ter)

SNV
Germline

Chr2:178601691

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349541723

rs_2154193077

2 SubmittersRCV001966055 RCV005505340

NM_000023.4(SGCA):c.643T>C (p.Ser215Pro)

SNV
Germline

Chr17:50169150

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA291536747

rs_76542495

1 SubmittersRCV001989364

NM_001267550.2(TTN):c.97813C>T (p.Gln32605Ter)

SNV
Germline

Chr2:178540353

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349436374

rs_1301441435

2 SubmittersRCV002036552 RCV002361412

NM_001267550.2(TTN):c.3544A>T (p.Lys1182Ter)

SNV
Germline

Chr2:178780185

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349482915

rs_2092638111

1 SubmittersRCV002014825

NM_000070.3(CAPN3):c.1456C>T (p.Gln486Ter)

SNV
Germline

Chr15:42401742

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA391999883

rs_2141199686

2 SubmittersRCV001992920 RCV005635370

NM_001267550.2(TTN):c.18406C>T (p.Arg6136Ter)

SNV
Germline

Chr2:178729847

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349562613

rs_2154307591

1 SubmittersRCV002018983

NM_000070.3(CAPN3):c.754A>G (p.Met252Val)

SNV
Germline

Chr15:42389049

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391998310

rs_2053483911

1 SubmittersRCV002048143

NM_000023.4(SGCA):c.601G>A (p.Gly201Ser)

SNV
Germline

Chr17:50169108

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400180368

rs_2144498121

1 SubmittersRCV002013697

NM_201384.3(PLEC):c.3442G>A (p.Ala1148Thr)

SNV
Germline

Chr8:143927724

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4927062

rs_370869846

2 SubmittersRCV001912635 RCV003134209

NM_001267550.2(TTN):c.36448+2T>C

SNV
Germline

Chr2:178663817

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349498456

rs_1426178024

2 SubmittersRCV001867180 RCV003314698

NM_001267550.2(TTN):c.41330-1G>T

SNV
Germline

Chr2:178636242

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349660568

rs_2154230691

1 SubmittersRCV001892588

NM_017739.4(POMGNT1):c.1212-1G>A

SNV
Germline

Chr1:46192591

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340177033

rs_1553163254

1 SubmittersRCV002012584

NM_001267550.2(TTN):c.64673-2A>G

SNV
Germline

Chr2:178584970

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA349438497

rs_2154180194

5 SubmittersRCV005254004 RCV002012601 RCV004045405 RCV004543676

NM_000070.3(CAPN3):c.572T>G (p.Phe191Cys)

SNV
Germline

Chr15:42387826

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391997900

rs_2141164830

1 SubmittersRCV001984367

NM_001267550.2(TTN):c.78342T>G (p.Tyr26114Ter)

SNV
Germline

Chr2:178567790

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349603223

rs_2154166540

1 SubmittersRCV001990729

NM_001267550.2(TTN):c.48160+1G>C

SNV
Germline

Chr2:178616728

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1994908

rs_779498825

2 SubmittersRCV001966358 RCV005925392

NM_015602.4(TOR1AIP1):c.349C>T (p.Gln117Ter)

SNV
Germline

Chr1:179882851

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Single Submitter

CA343578120

rs_2148468818

1 SubmittersRCV001881617

NM_021971.4(GMPPB):c.91A>G (p.Lys31Glu)

SNV
Germline

Chr3:49723636

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

CA2405704

rs_764625823

1 SubmittersRCV001991893

NM_000023.4(SGCA):c.472C>T (p.Leu158Phe)

SNV
Germline

Chr17:50168460

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400179945

rs_2144496721

1 SubmittersRCV002019216

NM_001267550.2(TTN):c.70224T>A (p.Tyr23408Ter)

SNV
Germline

Chr2:178575908

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349664054

rs_908321623

1 SubmittersRCV001991932

NM_017739.4(POMGNT1):c.880-1G>C

SNV
Germline

Chr1:46193926

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinal dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA340182154

rs_1317832573

5 SubmittersRCV002036661 RCV002550498 RCV003464404 RCV004816946 RCV005025683

NM_001267550.2(TTN):c.2841+1G>C

SNV
Germline

Chr2:178783719

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349494159

rs_2154350493

1 SubmittersRCV001894224

NM_213599.3(ANO5):c.1656T>G (p.Tyr552Ter)

SNV
Germline

Chr11:22262154

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379922524

rs_2133747497

1 SubmittersRCV001904190

NM_001267550.2(TTN):c.80458C>T (p.Gln26820Ter)

SNV
Germline

Chr2:178565674

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349588691

rs_2154164995

1 SubmittersRCV001968828

NM_213599.3(ANO5):c.2414+1G>C

SNV
Germline

Chr11:22274748

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379924479

rs_2133795361

1 SubmittersRCV001968909

NM_001267550.2(TTN):c.94331G>A (p.Trp31444Ter)

SNV
Germline

Chr2:178547194

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349475130

rs_1429264347

1 SubmittersRCV001970653

NM_001267550.2(TTN):c.49049-1G>C

SNV
Germline

Chr2:178614349

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349606833

rs_868064056

2 SubmittersRCV004990551 RCV002015377

NM_001267550.2(TTN):c.23099-2A>G

SNV
Germline

Chr2:178720665

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349516139

rs_2154300788

1 SubmittersRCV001991737

NM_021942.6(TRAPPC11):c.1466G>A (p.Trp489Ter)

SNV
Germline

Chr4:183684740

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Multiple Submitters
No Conflicts

CA358867323

rs_1735877322

2 SubmittersRCV002037649

NM_000023.4(SGCA):c.747G>T (p.Leu249=)

SNV
Germline

Chr17:50169254

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA500829308

rs_2144498569

1 SubmittersRCV001985841

NM_001077365.2(POMT1):c.97C>T (p.Arg33Ter)

SNV
Germline

Chr9:131504315

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA5293142

rs_759848847

2 SubmittersRCV001893866 RCV003475152

NM_001267550.2(TTN):c.35714-1G>C

SNV
Germline

Chr2:178667320

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349508776

rs_2154261850

1 SubmittersRCV001929617

NM_000023.4(SGCA):c.828C>A (p.Cys276Ter)

SNV
Germline

Chr17:50170223

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400182061

rs_2144500924

1 SubmittersRCV001941636

NM_000070.3(CAPN3):c.1084C>T (p.Gln362Ter)

SNV
Germline

Chr15:42394310

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA391999024

rs_965032792

2 SubmittersRCV001941728 RCV004720988

NM_015602.4(TOR1AIP1):c.149C>A (p.Ser50Ter)

SNV
Germline

Chr1:179882651

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Single Submitter

CA33712211

rs_374232191

1 SubmittersRCV001939436

NM_001267550.2(TTN):c.33419-2A>C

SNV
Germline

Chr2:178680057

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998335

rs_756841034

4 SubmittersRCV001965474 RCV002479530 RCV003136347

NM_001267550.2(TTN):c.66981T>G (p.Tyr22327Ter)

SNV
Germline

Chr2:178580398

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349425084

rs_2047426908

1 SubmittersRCV001999190

NM_001267550.2(TTN):c.71835G>A (p.Trp23945Ter)

SNV
Germline

Chr2:178574297

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349650413

rs_1217858818

1 SubmittersRCV002028105

NM_001267550.2(TTN):c.52847G>A (p.Trp17616Ter)

SNV
Germline

Chr2:178607940

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349570333

rs_2055319182

2 SubmittersRCV002036047 RCV004044775

NM_001267550.2(TTN):c.44854C>T (p.Gln14952Ter)

SNV
Germline

Chr2:178622729

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349638896

rs_2154213117

1 SubmittersRCV002036156

NM_000023.4(SGCA):c.241C>A (p.Arg81Ser)

SNV
Germline

Chr17:50167665

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA8643737

rs_398123098

1 SubmittersRCV001930566

NM_001267550.2(TTN):c.86015G>A (p.Trp28672Ter)

SNV
Germline

Chr2:178560117

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349547006

rs_1559284497

2 SubmittersRCV001961362 RCV005405798

NM_001267550.2(TTN):c.82547G>A (p.Trp27516Ter)

SNV
Germline

Chr2:178563585

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349572969

rs_2154161494

1 SubmittersRCV001961386

NM_001267550.2(TTN):c.86821+1G>A

SNV
Germline

Chr2:178559310

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349541256

rs_1702741860

2 SubmittersRCV001894508 RCV005503196

NM_015602.4(TOR1AIP1):c.343C>T (p.Arg115Ter)

SNV
Germline

Chr1:179882845

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Single Submitter

CA343578111

rs_2148468809

1 SubmittersRCV001877950

NM_000070.3(CAPN3):c.802-2A>G

SNV
Germline

Chr15:42389951

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391998421

rs_2141170197

1 SubmittersRCV001964090

NM_213599.3(ANO5):c.1639C>G (p.Arg547Gly)

SNV
Germline

Chr11:22262137

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379922485

rs_747719953

1 SubmittersRCV001995240

NM_001267550.2(TTN):c.10114+1G>T

SNV
Germline

Chr2:178764176

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349673690

rs_2154339650

1 SubmittersRCV002033866

NM_001267550.2(TTN):c.46309A>T (p.Lys15437Ter)

SNV
Germline

Chr2:178620108

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349627605

rs_2154210717

1 SubmittersRCV001890792

NM_001267550.2(TTN):c.92603G>A (p.Trp30868Ter)

SNV
Germline

Chr2:178549023

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349492504

rs_2154147843

1 SubmittersRCV001995057

NM_001267550.2(TTN):c.104269C>T (p.Gln34757Ter)

SNV
Germline

Chr2:178532346

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349412112

rs_2154134221

1 SubmittersRCV001995119

NM_001267550.2(TTN):c.43431C>G (p.Tyr14477Ter)

SNV
Germline

Chr2:178632575

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349650714

rs_1559955466

2 SubmittersRCV001964006 RCV006280862

NM_201384.3(PLEC):c.4317G>A (p.Gln1439=)

SNV
Germline

Chr8:143925612

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926706

rs_781900044

2 SubmittersRCV002019538 RCV005057898

NM_001267550.2(TTN):c.98450G>A (p.Trp32817Ter)

SNV
Germline

Chr2:178539615

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349432385

rs_2154140054

1 SubmittersRCV002016626

NM_001267550.2(TTN):c.7177C>T (p.Gln2393Ter)

SNV
Germline

Chr2:178773991

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349680851

rs_2154344933

1 SubmittersRCV001948318

NM_000337.6(SGCD):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr5:156344495

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2F
Dilated cardiomyopathy 1L
Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Multiple Submitters
No Conflicts

CA362007506

rs_1768838504

2 SubmittersRCV001970160 RCV005032008

NM_001267550.2(TTN):c.90388G>T (p.Glu30130Ter)

SNV
Germline

Chr2:178552512

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349511214

rs_2154151318

1 SubmittersRCV001998784

NM_001267550.2(TTN):c.7856-1G>T

SNV
Germline

Chr2:178771472

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349678823

rs_2154343384

1 SubmittersRCV001875431

NM_001267550.2(TTN):c.106374G>A (p.Lys35458=)

SNV
Germline

Chr2:178530241

Conflicting classifications of pathogenicity

Centronuclear myopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430234991

rs_2154132585

2 SubmittersRCV004587295 RCV002031641

NM_001267550.2(TTN):c.83984A>C (p.Asn27995Thr)

SNV
Germline

Chr2:178562148

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1988851

rs_751728774

2 SubmittersRCV001874239 RCV003164127

NM_001267550.2(TTN):c.68224+2T>C

SNV
Germline

Chr2:178578804

Likely pathogenic

TTN-related disorder
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349673342

rs_1321711553

2 SubmittersRCV004545837 RCV002013242

NM_001130987.2(DYSF):c.6334A>G (p.Met2112Val)

SNV
Germline

Chr2:71686466

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347227869

rs_2152976526

2 SubmittersRCV001981714 RCV006448791

NM_017739.4(POMGNT1):c.1785+1G>A

SNV
Germline

Chr1:46189853

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340171168

rs_2148166435

3 SubmittersRCV002010685 RCV005025619 RCV006275105

NM_001267550.2(TTN):c.90231G>A (p.Trp30077Ter)

SNV
Germline

Chr2:178552669

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349512681

rs_2154151450

1 SubmittersRCV002042376

NM_001267550.2(TTN):c.18307+2T>C

SNV
Germline

Chr2:178730091

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349563592

rs_2154307882

1 SubmittersRCV001977518

NM_001267550.2(TTN):c.45769C>T (p.Gln15257Ter)

SNV
Germline

Chr2:178620841

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349631872

rs_2154211378

1 SubmittersRCV002005258

NM_001267550.2(TTN):c.107351C>A (p.Ser35784Ter)

SNV
Germline

Chr2:178528300

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349401259

rs_1575185742

1 SubmittersRCV002005305

NM_000023.4(SGCA):c.312+1G>A

SNV
Germline

Chr17:50167737

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400178041

rs_2144494642

1 SubmittersRCV002041840

NM_001267550.2(TTN):c.32887+2T>C

SNV
Germline

Chr2:178683209

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349542733

rs_2154273077

1 SubmittersRCV002050735

NM_001267550.2(TTN):c.32012-1G>T

SNV
Germline

Chr2:178689137

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349554539

rs_2154278075

1 SubmittersRCV001879594

NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu)

SNV
Germline

Chr19:46756511

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Cardiovascular phenotype
Intellectual disability

Criteria Provided
Conflicting Classifications

CA9532238

rs_781414509

4 SubmittersRCV001898738 RCV002490215 RCV002407033 RCV005626538

NM_213599.3(ANO5):c.258C>A (p.Tyr86Ter)

SNV
Germline

Chr11:22221174

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5922845

rs_747146523

2 SubmittersRCV001972639 RCV003886541

NM_001267550.2(TTN):c.62935G>T (p.Glu20979Ter)

SNV
Germline

Chr2:178588790

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349458816

rs_1306891128

2 SubmittersRCV002047006 RCV003164031

NM_001077365.2(POMT1):c.605+1G>T

SNV
Germline

Chr9:131509809

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA5293333

rs_766648827

1 SubmittersRCV001964400

NM_001267550.2(TTN):c.96746G>A (p.Trp32249Ter)

SNV
Germline

Chr2:178543227

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349445636

rs_2154143363

1 SubmittersRCV001966581

NM_013382.7(POMT2):c.1891+2T>C

SNV
Germline

Chr14:77279821

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390514397

rs_1594884932

1 SubmittersRCV001966588

NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter)

SNV
Germline

Chr2:178794404

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA349515218

rs_1313233245

3 SubmittersRCV002035545 RCV002389012 RCV002498003

NM_000023.4(SGCA):c.100C>A (p.Arg34Ser)

SNV
Germline

Chr17:50167430

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400176636

rs_758647756

1 SubmittersRCV002019675

NM_001267550.2(TTN):c.54605G>A (p.Trp18202Ter)

SNV
Germline

Chr2:178604082

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349550920

rs_2154194712

1 SubmittersRCV002003983

NM_001267550.2(TTN):c.104381C>T (p.Ser34794Leu)

SNV
Germline

Chr2:178532234

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA349411859

rs_1302011604

2 SubmittersRCV001958205 RCV005405782

NM_001267550.2(TTN):c.101207G>A (p.Trp33736Ter)

SNV
Germline

Chr2:178535408

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349421303

rs_2154136654

1 SubmittersRCV001969324

NM_001267550.2(TTN):c.70467C>A (p.Cys23489Ter)

SNV
Germline

Chr2:178575665

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349662931

rs_2154172442

1 SubmittersRCV002013306

NM_017739.4(POMGNT1):c.1605-1G>T

SNV
Germline

Chr1:46190518

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340171851

rs_770219373

1 SubmittersRCV002017559

NM_001267550.2(TTN):c.97492+1G>A

SNV
Germline

Chr2:178542263

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349439017

rs_727505319

4 SubmittersRCV001927167 RCV002361187 RCV004728910 RCV005255693

NM_001267550.2(TTN):c.30963T>A (p.Tyr10321Ter)

SNV
Germline

Chr2:178696109

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349566126

rs_1167073084

1 SubmittersRCV001884562

NM_017739.4(POMGNT1):c.879A>C (p.Pro293=)

SNV
Germline

Chr1:46194274

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA833590

rs_776248221

3 SubmittersRCV001980125 RCV003408000 RCV004538674

NM_001267550.2(TTN):c.50859C>A (p.Cys16953Ter)

SNV
Germline

Chr2:178611270

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349591486

rs_2154199623

1 SubmittersRCV001976338

NM_001267550.2(TTN):c.45895+1G>T

SNV
Germline

Chr2:178620714

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1995354

rs_727504589

2 SubmittersRCV001976460 RCV004720993

NM_001267550.2(TTN):c.58151-2A>G

SNV
Germline

Chr2:178594244

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349509023

rs_2154187087

1 SubmittersRCV002022838

NM_021971.4(GMPPB):c.859C>A (p.Arg287=)

SNV
Germline

Chr3:49722057

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2405423

rs_142908436

3 SubmittersRCV001947340 RCV004720955

NM_001267550.2(TTN):c.101679G>C (p.Glu33893Asp)

SNV
Germline

Chr2:178534936

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1985852

rs_764487443

2 SubmittersRCV001997016 RCV005405784

NM_001267550.2(TTN):c.83335A>T (p.Lys27779Ter)

SNV
Germline

Chr2:178562797

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349568257

rs_2154160959

2 SubmittersRCV002007789 RCV005505356

NM_001267550.2(TTN):c.39580A>T (p.Lys13194Ter)

SNV
Germline

Chr2:178651288

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349454265

rs_2154249634

1 SubmittersRCV002022518

NM_001267550.2(TTN):c.61813A>G (p.Ile20605Val)

SNV
Germline

Chr2:178589912

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA1992306

rs_759096564

3 SubmittersRCV002011128 RCV004538728 RCV005622155

NM_001267550.2(TTN):c.54257G>A (p.Trp18086Ter)

SNV
Germline

Chr2:178604832

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349554720

rs_2154195201

1 SubmittersRCV002045344

NM_001267550.2(TTN):c.32639-2A>C

SNV
Germline

Chr2:178684415

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349546491

rs_2154274686

1 SubmittersRCV001940900

NM_201384.3(PLEC):c.5170C>T (p.Gln1724Ter)

SNV
Germline

Chr8:143924759

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Single Submitter

CA372549138

rs_2131422085

1 SubmittersRCV001949703

NM_201384.3(PLEC):c.4606C>T (p.Gln1536Ter)

SNV
Germline

Chr8:143925323

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Single Submitter

CA372554797

rs_2131471759

1 SubmittersRCV001963030

NM_001267550.2(TTN):c.101035C>T (p.Gln33679Ter)

SNV
Germline

Chr2:178535580

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349421957

rs_561471402

1 SubmittersRCV002033407

NM_001267550.2(TTN):c.47760+1G>A

SNV
Germline

Chr2:178617324

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349613492

rs_2154208642

1 SubmittersRCV002006049

NM_001267550.2(TTN):c.95120-2A>G

SNV
Germline

Chr2:178546118

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349466212

rs_2154145628

1 SubmittersRCV002006142

NM_001267550.2(TTN):c.25639+2T>C

SNV
Germline

Chr2:178717093

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Single Submitter

CA2000184

rs_769452066

2 SubmittersRCV002048668 RCV004538741

NM_001267550.2(TTN):c.3817G>T (p.Glu1273Ter)

SNV
Germline

Chr2:178779375

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349477921

rs_2154347744

1 SubmittersRCV002051475

NM_213599.3(ANO5):c.1801-1G>C

SNV
Germline

Chr11:22262945

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

CA379922869

rs_2133750487

1 SubmittersRCV001971059

NM_001267550.2(TTN):c.84099T>A (p.Tyr28033Ter)

SNV
Germline

Chr2:178562033

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349562388

rs_762450131

1 SubmittersRCV002020002

NM_001267550.2(TTN):c.63370C>T (p.Gln21124Ter)

SNV
Germline

Chr2:178588037

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349453254

rs_1341948399

3 SubmittersRCV002045099 RCV004764981 RCV004721003

NM_015602.4(TOR1AIP1):c.529G>A (p.Val177Ile)

SNV
Germline

Chr1:179884745

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Y
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1268816

rs_776120444

2 SubmittersRCV001944634 RCV005762379

NM_017739.4(POMGNT1):c.1841T>A (p.Leu614Ter)

SNV
Germline

Chr1:46189512

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340170913

rs_1364587778

1 SubmittersRCV001930101

NM_001267550.2(TTN):c.9305+4A>C

SNV
Germline

Chr2:178768010

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004383

rs_746628782

2 SubmittersRCV001919675 RCV002370535

NM_001267550.2(TTN):c.73620G>A (p.Trp24540Ter)

SNV
Germline

Chr2:178572512

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349638047

rs_2154170160

1 SubmittersRCV002018669

NM_001267550.2(TTN):c.82512C>A (p.Tyr27504Ter)

SNV
Germline

Chr2:178563620

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349573151

rs_1181684993

1 SubmittersRCV002020397

NM_213599.3(ANO5):c.22G>T (p.Glu8Ter)

SNV
Germline

Chr11:22193514

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

CA379921914

rs_1191668273

1 SubmittersRCV001887501

NM_001267550.2(TTN):c.41581G>T (p.Glu13861Ter)

SNV
Germline

Chr2:178635990

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349658052

rs_2154230108

3 SubmittersRCV001898676 RCV003167010 RCV004719193

NM_001267550.2(TTN):c.1417A>T (p.Lys473Ter)

SNV
Germline

Chr2:178793523

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349513658

rs_2154355442

1 SubmittersRCV001971304

NM_001267550.2(TTN):c.5172C>A (p.Cys1724Ter)

SNV
Germline

Chr2:178776692

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349455554

rs_2154346258

1 SubmittersRCV001928904

NM_213599.3(ANO5):c.766C>T (p.Gln256Ter)

SNV
Germline

Chr11:22239572

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379920370

rs_794727981

1 SubmittersRCV001892278

NM_001267550.2(TTN):c.6388G>T (p.Glu2130Ter)

SNV
Germline

Chr2:178775476

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349440066

rs_762914675

1 SubmittersRCV001884649

NM_000337.6(SGCD):c.466G>T (p.Glu156Ter)

SNV
Germline

Chr5:156595015

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Single Submitter

CA362010668

rs_2113389536

1 SubmittersRCV001884710

NM_001267550.2(TTN):c.80259T>G (p.Tyr26753Ter)

SNV
Germline

Chr2:178565873

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349589840

rs_895018646

1 SubmittersRCV001995405

NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter)

SNV
Germline

Chr2:178642287

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA61010406

rs_974323028

3 SubmittersRCV001977795 RCV002386845 RCV003136398

NM_001267550.2(TTN):c.97263G>A (p.Trp32421Ter)

SNV
Germline

Chr2:178542493

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349441080

rs_2154142586

1 SubmittersRCV001976575

NM_001267550.2(TTN):c.73734G>A (p.Trp24578Ter)

SNV
Germline

Chr2:178572398

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349637291

rs_753105114

2 SubmittersRCV002007077 RCV004990569

NM_213599.3(ANO5):c.1045C>T (p.Gln349Ter)

SNV
Germline

Chr11:22250772

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379921010

rs_2133704072

1 SubmittersRCV002037879

NM_001267550.2(TTN):c.1662+2T>G

SNV
Germline

Chr2:178792070

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349510313

rs_2154354670

1 SubmittersRCV001974352

NM_001267550.2(TTN):c.68936C>A (p.Ser22979Ter)

SNV
Germline

Chr2:178577399

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349670828

rs_2154173745

1 SubmittersRCV002006579

NM_001267550.2(TTN):c.89884G>T (p.Gly29962Ter)

SNV
Germline

Chr2:178553016

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349515082

rs_2154151700

1 SubmittersRCV002035989

NM_001267550.2(TTN):c.17741-1G>A

SNV
Germline

Chr2:178730793

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349569940

rs_2154308493

1 SubmittersRCV002006841

NM_152305.3(POGLUT1):c.386T>C (p.Ile129Thr)

SNV
Germline

Chr3:119477378

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2R1

Criteria Provided
Conflicting Classifications

CA81697809

rs_1015531524

2 SubmittersRCV001924335 RCV004555892

NM_213599.3(ANO5):c.1531C>T (p.Gln511Ter)

SNV
Germline

Chr11:22259642

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379922236

rs_1486335553

2 SubmittersRCV001999983 RCV004999572

NM_001267550.2(TTN):c.67840C>T (p.Gln22614Ter)

SNV
Germline

Chr2:178579190

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349422828

rs_2154175288

1 SubmittersRCV002043676

NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter)

SNV
Germline

Chr1:46194879

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA340186716

rs_1156647434

3 SubmittersRCV002004850 RCV002564359 RCV004816815

NM_001267550.2(TTN):c.51919G>T (p.Glu17307Ter)

SNV
Germline

Chr2:178609391

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349579233

rs_2154198436

1 SubmittersRCV001998403

NM_004369.4(COL6A3):c.3733G>A (p.Gly1245Arg)

SNV
Germline

Chr2:237372284

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA2189088

rs_150548221

3 SubmittersRCV001998404 RCV002573476 RCV005626569

NM_001267550.2(TTN):c.56794A>T (p.Lys18932Ter)

SNV
Germline

Chr2:178598916

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349526755

rs_2154190918

1 SubmittersRCV002035802

NM_001267550.2(TTN):c.40928-2A>C

SNV
Germline

Chr2:178636801

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349662051

rs_2154231706

1 SubmittersRCV001999586

NM_000231.3(SGCG):c.87T>A (p.Tyr29Ter)

SNV
Germline

Chr13:23203781

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA387502486

rs_1196026821

1 SubmittersRCV001887587

NM_013382.7(POMT2):c.2176G>A (p.Gly726Arg)

SNV
Germline

Chr14:77277453

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390512686

rs_1471500386

1 SubmittersRCV001906161

NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)

SNV
Germline

Chr5:156344582

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2F
Condition: not provided
Dilated cardiomyopathy 1L
Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Multiple Submitters
No Conflicts

CA3530488

rs_778760498

5 SubmittersRCV002007476 RCV003170165 RCV002497864

NM_001267550.2(TTN):c.97492+1G>T

SNV
Germline

Chr2:178542263

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349439004

rs_727505319

1 SubmittersRCV002007556

NM_017739.4(POMGNT1):c.1788C>A (p.Cys596Ter)

SNV
Germline

Chr1:46189565

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340171108

rs_376973640

1 SubmittersRCV001999720

NM_000232.5(SGCB):c.33+2T>A

SNV
Germline

Chr4:52038225

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA356878663

rs_2109380796

2 SubmittersRCV001985768

NM_001267550.2(TTN):c.86251G>T (p.Glu28751Ter)

SNV
Germline

Chr2:178559881

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349545394

rs_772058084

1 SubmittersRCV002040439

NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter)

SNV
Germline

Chr2:178565752

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349589096

rs_2154165062

3 SubmittersRCV002016356 RCV003224607 RCV002346287

NM_001267550.2(TTN):c.39817+1G>C

SNV
Germline

Chr2:178650163

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Hypertrophic cardiomyopathy 9

Criteria Provided
Conflicting Classifications

CA349449059

rs_959064823

3 SubmittersRCV001896684 RCV003136278 RCV004785364

NM_201384.3(PLEC):c.6664C>T (p.Gln2222Ter)

SNV
Germline

Chr8:143923265

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Single Submitter

CA372533025

rs_1823561323

1 SubmittersRCV001942170

NM_201384.3(PLEC):c.7078G>T (p.Glu2360Ter)

SNV
Germline

Chr8:143922851

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Single Submitter

CA372530014

rs_2131284343

1 SubmittersRCV001962954

NM_000023.4(SGCA):c.221G>C (p.Arg74Pro)

SNV
Germline

Chr17:50167645

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400177466

rs_779439298

1 SubmittersRCV002002976

NM_001267550.2(TTN):c.91270+1G>A

SNV
Germline

Chr2:178551629

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349502524

rs_2154150675

1 SubmittersRCV002042988

NM_001267550.2(TTN):c.45055A>T (p.Arg15019Ter)

SNV
Germline

Chr2:178621867

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349637591

rs_2154212373

2 SubmittersRCV002040341 RCV005054401

NM_001267550.2(TTN):c.92017A>T (p.Lys30673Ter)

SNV
Germline

Chr2:178549705

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349495018

rs_2154148429

2 SubmittersRCV002037285 RCV002359281

NM_017739.4(POMGNT1):c.1153G>T (p.Glu385Ter)

SNV
Germline

Chr1:46192958

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340179223

rs_2148189653

1 SubmittersRCV001908048

NM_000023.4(SGCA):c.748G>T (p.Val250Leu)

SNV
Germline

Chr17:50170143

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400181242

rs_1473539605

1 SubmittersRCV001893883

NM_000023.4(SGCA):c.238C>T (p.Gln80Ter)

SNV
Germline

Chr17:50167662

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400177573

rs_2144494297

1 SubmittersRCV001917918

NM_001267550.2(TTN):c.44815+1G>A

SNV
Germline

Chr2:178624464

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349640109

rs_1274007753

2 SubmittersRCV001949875 RCV005860274

NM_201384.3(PLEC):c.2503C>T (p.Gln835Ter)

SNV
Germline

Chr8:143930253

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Single Submitter

CA372574100

rs_2131772658

1 SubmittersRCV001933588

NM_021942.6(TRAPPC11):c.1051C>T (p.Gln351Ter)

SNV
Germline

Chr4:183680205

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

CA358863399

rs_2111348673

1 SubmittersRCV001942047

NM_001267550.2(TTN):c.98990-2A>C

SNV
Germline

Chr2:178538841

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349431203

rs_2154139399

1 SubmittersRCV001989015

NM_000070.3(CAPN3):c.661G>A (p.Gly221Ser)

SNV
Germline

Chr15:42388956

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391998101

rs_1432632972

1 SubmittersRCV001989087

NM_000023.4(SGCA):c.602G>A (p.Gly201Asp)

SNV
Germline

Chr17:50169109

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400180381

rs_2144498132

1 SubmittersRCV001989171

NM_001267550.2(TTN):c.55300C>T (p.Gln18434Ter)

SNV
Germline

Chr2:178601884

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349542643

rs_1284529298

1 SubmittersRCV001980851

NM_001267550.2(TTN):c.35308+1G>T

SNV
Germline

Chr2:178671089

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349515170

rs_1423135750

2 SubmittersRCV001934365 RCV005635348

NM_015602.4(TOR1AIP1):c.739+1G>A

SNV
Germline

Chr1:179901389

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Single Submitter

CA33679981

rs_900977276

1 SubmittersRCV001963866

NM_001267550.2(TTN):c.39625+2T>C

SNV
Germline

Chr2:178651241

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA1996654

rs_774766702

1 SubmittersRCV002012748

NM_000070.3(CAPN3):c.1800+2T>C

SNV
Germline

Chr15:42405945

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA7511539

rs_748194118

1 SubmittersRCV001893662

NM_017739.4(POMGNT1):c.75G>A (p.Trp25Ter)

SNV
Germline

Chr1:46197747

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340192789

rs_1264635358

1 SubmittersRCV002002554

NM_000070.3(CAPN3):c.1A>G (p.Met1Val)

SNV
Germline

Chr15:42359806

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391993748

rs_1566965796

1 SubmittersRCV002002571

NM_201384.3(PLEC):c.10573C>T (p.Gln3525Ter)

SNV
Germline

Chr8:143919248

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Single Submitter

CA4924605

rs_781837529

1 SubmittersRCV001939350

NM_001267550.2(TTN):c.58581G>A (p.Trp19527Ter)

SNV
Germline

Chr2:178593719

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349504290

rs_2154186640

2 SubmittersRCV002040585 RCV002324480

NM_001267550.2(TTN):c.97633C>T (p.Arg32545Ter)

SNV
Germline

Chr2:178541444

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA60967027

rs_780653613

2 SubmittersRCV002049926 RCV004681258

NM_000070.3(CAPN3):c.1782+2T>C

SNV
Germline

Chr15:42403779

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA7511502

rs_754930571

1 SubmittersRCV002037538

NM_201384.3(PLEC):c.9022C>T (p.Arg3008Ter)

SNV
Germline

Chr8:143920799

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Single Submitter

CA372514292

rs_1410984638

1 SubmittersRCV001953416

NM_201384.3(PLEC):c.3874C>T (p.Gln1292Ter)

SNV
Germline

Chr8:143927048

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Single Submitter

CA372563906

rs_2131581257

1 SubmittersRCV001953448

NM_001267550.2(TTN):c.102985G>A (p.Ala34329Thr)

SNV
Germline

Chr2:178533630

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA1985671

rs_749925915

3 SubmittersRCV002016940 RCV005025645 RCV005405805

NM_001267550.2(TTN):c.52975C>T (p.Gln17659Ter)

SNV
Germline

Chr2:178607812

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349569255

rs_2154197188

3 SubmittersRCV002044380 RCV003164026 RCV006550557

NM_001267550.2(TTN):c.49649-2A>T

SNV
Germline

Chr2:178613074

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349601647

rs_2154200803

1 SubmittersRCV002041465

NM_000070.3(CAPN3):c.641G>A (p.Gly214Asp)

SNV
Germline

Chr15:42388936

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391998057

rs_761430243

1 SubmittersRCV001913001

NM_021942.6(TRAPPC11):c.1381G>T (p.Glu461Ter)

SNV
Germline

Chr4:183684319

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

CA358866823

rs_2111363477

1 SubmittersRCV001967137

NM_001267550.2(TTN):c.18791C>G (p.Ser6264Ter)

SNV
Germline

Chr2:178729365

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349559737

rs_2079975361

1 SubmittersRCV002003396

NM_001077365.2(POMT1):c.699+67G>T

SNV
Germline

Chr9:131510063

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Conflicting Classifications

CA375307608

rs_776061161

2 SubmittersRCV002033289 RCV003475110

NM_001267550.2(TTN):c.88009+2T>G

SNV
Germline

Chr2:178557251

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349532403

rs_1701869111

2 SubmittersRCV002044307 RCV004809682

NM_001267550.2(TTN):c.21961G>A (p.Glu7321Lys)

SNV
Germline

Chr2:178723046

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Centronuclear myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349530031

rs_2078691261

3 SubmittersRCV002036247 RCV004587293 RCV004797985

NM_001077365.2(POMT1):c.1585-2A>G

SNV
Germline

Chr9:131520078

Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Single Submitter

CA375312995

rs_2131880195

1 SubmittersRCV002036317

NM_001267550.2(TTN):c.104518C>T (p.Arg34840Trp)

SNV
Germline

Chr2:178532097

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1985412

rs_546085542

2 SubmittersRCV002036321 RCV003487020

NM_001267550.2(TTN):c.90737G>A (p.Trp30246Ter)

SNV
Germline

Chr2:178552163

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349507002

rs_2154151058

1 SubmittersRCV002036472

NM_000070.3(CAPN3):c.2050+1G>C

SNV
Germline

Chr15:42409845

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA7511672

rs_768374736

1 SubmittersRCV001904132

NM_000070.3(CAPN3):c.1029+1G>A

SNV
Germline

Chr15:42392723

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391998908

rs_2141177054

1 SubmittersRCV001970493

NM_001267550.2(TTN):c.7057+2T>C

SNV
Germline

Chr2:178774205

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349681114

rs_2154345049

1 SubmittersRCV001991369

NM_001267550.2(TTN):c.84643A>T (p.Lys28215Ter)

SNV
Germline

Chr2:178561489

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349558808

rs_2154159715

2 SubmittersRCV001991448 RCV002346262

NM_001267550.2(TTN):c.69811G>T (p.Glu23271Ter)

SNV
Germline

Chr2:178576321

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349666359

rs_1213132001

1 SubmittersRCV002015313

NM_013382.7(POMT2):c.2032+1G>A

SNV
Germline

Chr14:77278728

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390513703

rs_2140161850

1 SubmittersRCV002015359

NM_201384.3(PLEC):c.6317A>G (p.Gln2106Arg)

SNV
Germline

Chr8:143923612

Conflicting classifications of pathogenicity

6 conditions
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926043

rs_781986464

3 SubmittersRCV005397293 RCV002031721 RCV004729056

NM_213599.3(ANO5):c.989T>A (p.Leu330Ter)

SNV
Germline

Chr11:22250347

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

CA379920873

rs_373814281

1 SubmittersRCV001946654

NM_001267550.2(TTN):c.66628C>T (p.Gln22210Ter)

SNV
Germline

Chr2:178581640

Pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349428669

rs_757047748

2 SubmittersRCV002282674 RCV002003015

NM_001267550.2(TTN):c.63270T>G (p.Tyr21090Ter)

SNV
Germline

Chr2:178588137

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349454569

rs_878991431

1 SubmittersRCV001995859

NM_001267550.2(TTN):c.68663G>A (p.Trp22888Ter)

SNV
Germline

Chr2:178577763

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349671442

rs_2154174003

1 SubmittersRCV002014027

NM_001130987.2(DYSF):c.2930G>A (p.Arg977Gln)

SNV
Germline

Chr2:71569885

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1706332

rs_752689148

3 SubmittersRCV002014091 RCV003314031 RCV005552616

NM_001267550.2(TTN):c.13621C>T (p.Gln4541Ter)

SNV
Germline

Chr2:178739612

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349607139

rs_2154317658

1 SubmittersRCV002014158

NM_024301.5(FKRP):c.693G>C (p.Trp231Cys)

SNV
Germline

Chr19:46756143

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Conflicting Classifications

CA406495822

rs_2122621481

4 SubmittersRCV002014233 RCV002479773 RCV003491014 RCV003471265

NM_001267550.2(TTN):c.3101-1G>A

SNV
Germline

Chr2:178782603

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349489205

rs_2092877322

1 SubmittersRCV001883231

NM_013382.7(POMT2):c.678G>A (p.Trp226Ter)

SNV
Germline

Chr14:77301228

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Multiple Submitters
No Conflicts

CA7286108

rs_778947923

3 SubmittersRCV001971921

NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys)

SNV
Germline

Chr9:131506121

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA375305542

rs_1397478363

2 SubmittersRCV001949458 RCV003475244

NM_001267550.2(TTN):c.69860G>A (p.Trp23287Ter)

SNV
Germline

Chr2:178576272

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA61003658

rs_869067204

2 SubmittersRCV005405799 RCV002001099

NM_001130987.2(DYSF):c.2109+1G>C

SNV
Germline

Chr2:71553932

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347219053

rs_2152792714

2 SubmittersRCV002003447 RCV005401899

NM_001267550.2(TTN):c.92526G>A (p.Trp30842Ter)

SNV
Germline

Chr2:178549100

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349492946

rs_2154147893

3 SubmittersRCV002026335 RCV004729046

NM_001267550.2(TTN):c.83126G>A (p.Trp27709Ter)

SNV
Germline

Chr2:178563006

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349569287

rs_2154161090

1 SubmittersRCV002018490

NM_001267550.2(TTN):c.62109T>A (p.Tyr20703Ter)

SNV
Germline

Chr2:178589616

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349465928

rs_2154183898

1 SubmittersRCV002026380

NM_213599.3(ANO5):c.1333-2A>G

SNV
Germline

Chr11:22257678

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379921702

rs_2133730668

1 SubmittersRCV002008654

NM_001267550.2(TTN):c.95164C>T (p.Gln31722Ter)

SNV
Germline

Chr2:178546072

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349465958

rs_2154145603

3 SubmittersRCV002001006 RCV004017889 RCV003232507

NM_001267550.2(TTN):c.1246-2A>G

SNV
Germline

Chr2:178794553

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349516905

rs_2154355995

1 SubmittersRCV002026166

NM_001130987.2(DYSF):c.1007A>G (p.Asp336Gly)

SNV
Germline

Chr2:71520182

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1705568

rs_763604611

4 SubmittersRCV002018410 RCV002290838 RCV004809730

NM_001267550.2(TTN):c.100723C>T (p.Gln33575Ter)

SNV
Germline

Chr2:178536024

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349424833

rs_2154137150

1 SubmittersRCV002039273

NM_001267550.2(TTN):c.34039C>T (p.Gln11347Ter)

SNV
Germline

Chr2:178677873

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349530700

rs_2154268786

1 SubmittersRCV002031917

NM_001267550.2(TTN):c.23377+2T>C

SNV
Germline

Chr2:178720383

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349513380

rs_2154300619

2 SubmittersRCV001872344 RCV003482375

NM_213599.3(ANO5):c.1042G>T (p.Gly348Cys)

SNV
Germline

Chr11:22250769

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379921005

rs_139344099

1 SubmittersRCV001961568

NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys)

SNV
Germline

Chr9:131507400

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA375306235

rs_1289335417

3 SubmittersRCV002019789 RCV003464372 RCV005042665

NM_001267550.2(TTN):c.103457T>C (p.Ile34486Thr)

SNV
Germline

Chr2:178533158

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA349414228

rs_2154134918

2 SubmittersRCV001996047 RCV005405802

NM_000232.5(SGCB):c.601C>T (p.Gln201Ter)

SNV
Germline

Chr4:52028750

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA2918360

rs_773554421

2 SubmittersRCV001972590

NM_000337.6(SGCD):c.576-1G>C

SNV
Germline

Chr5:156757580

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Single Submitter

CA362008319

rs_2113176852

1 SubmittersRCV002008218

NM_001267550.2(TTN):c.8576C>G (p.Ser2859Ter)

SNV
Germline

Chr2:178770125

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349677077

rs_1574564600

1 SubmittersRCV002008220

NM_001267550.2(TTN):c.80568T>A (p.Tyr26856Ter)

SNV
Germline

Chr2:178565564

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349587823

rs_769878576

1 SubmittersRCV002008283

NM_001267550.2(TTN):c.47512C>T (p.Arg15838Ter)

SNV
Germline

Chr2:178617839

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA1995036

rs_762271078

2 SubmittersRCV002023006 RCV004764982

NM_017739.4(POMGNT1):c.1152+1G>A

SNV
Germline

Chr1:46193173

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Conflicting Classifications

CA340179329

rs_1474858292

3 SubmittersRCV002023103 RCV002545583 RCV003471270

NM_000070.3(CAPN3):c.648C>G (p.Tyr216Ter)

SNV
Germline

Chr15:42388943

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391998072

rs_138846390

1 SubmittersRCV001888198

NM_001267550.2(TTN):c.13072G>T (p.Glu4358Ter)

SNV
Germline

Chr2:178740161

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349609526

rs_757979946

1 SubmittersRCV001948581

NM_001267550.2(TTN):c.53003-1G>C

SNV
Germline

Chr2:178607686

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349568942

rs_2154197076

1 SubmittersRCV002033625

NM_001267550.2(TTN):c.106532-2A>C

SNV
Germline

Chr2:178529221

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA1985076

rs_753610150

1 SubmittersRCV002029605

NM_001267550.2(TTN):c.94991T>A (p.Leu31664Ter)

SNV
Germline

Chr2:178546340

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349467840

rs_2154145831

2 SubmittersRCV002020788 RCV004681408

NM_001267550.2(TTN):c.46810G>T (p.Glu15604Ter)

SNV
Germline

Chr2:178618740

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349622186

rs_749463044

2 SubmittersRCV001927866 RCV006362896

NM_001267550.2(TTN):c.20107C>T (p.Arg6703Ter)

SNV
Germline

Chr2:178727258

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349548971

rs_2079499416

2 SubmittersRCV001903525 RCV006251077

NM_000023.4(SGCA):c.95T>C (p.Val32Ala)

SNV
Germline

Chr17:50167425

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA291535997

rs_1017592342

2 SubmittersRCV001963134

NM_000231.3(SGCG):c.105T>A (p.Cys35Ter)

SNV
Germline

Chr13:23203799

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA6909574

rs_760108586

1 SubmittersRCV001959163

NM_001267550.2(TTN):c.32554+1G>A

SNV
Germline

Chr2:178684905

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349547247

rs_376018437

1 SubmittersRCV002006283

NM_001267550.2(TTN):c.20276-1G>C

SNV
Germline

Chr2:178726047

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349546282

rs_2154304651

1 SubmittersRCV002033504

NM_001267550.2(TTN):c.56417G>A (p.Trp18806Ter)

SNV
Germline

Chr2:178599376

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349532257

rs_2154191239

1 SubmittersRCV002006342

NM_001267550.2(TTN):c.26482G>T (p.Glu8828Ter)

SNV
Germline

Chr2:178714292

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349469046

rs_778206438

2 SubmittersRCV002006533 RCV003136417

NM_001267550.2(TTN):c.64396+2T>C

SNV
Germline

Chr2:178586503

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349440799

rs_2154181458

1 SubmittersRCV002029499

NM_001267550.2(TTN):c.33580+1G>A

SNV
Germline

Chr2:178679893

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349536899

rs_2068947933

2 SubmittersRCV002047187 RCV005412288

NM_001267550.2(TTN):c.45616+1G>C

SNV
Germline

Chr2:178621101

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349633190

rs_1395648308

1 SubmittersRCV001883731

NM_001267550.2(TTN):c.20836+2T>C

SNV
Germline

Chr2:178725366

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001150

rs_776932740

2 SubmittersRCV001955727 RCV004697170

NM_001267550.2(TTN):c.93956C>A (p.Ser31319Ter)

SNV
Germline

Chr2:178547670

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349479265

rs_2154146843

1 SubmittersRCV002002615

NM_001267550.2(TTN):c.106117C>T (p.Gln35373Ter)

SNV
Germline

Chr2:178530498

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349406998

rs_778126842

1 SubmittersRCV001975648

NM_213599.3(ANO5):c.2030-2A>T

SNV
Germline

Chr11:22272782

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379923529

rs_1187569251

1 SubmittersRCV002040151

NM_021942.6(TRAPPC11):c.2389C>T (p.Gln797Ter)

SNV
Germline

Chr4:183693919

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

CA358871781

rs_2111068100

1 SubmittersRCV001956478

NM_000070.3(CAPN3):c.498+1G>A

SNV
Germline

Chr15:42386286

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391997725

rs_2141160881

1 SubmittersRCV001949581

NM_000070.3(CAPN3):c.898C>T (p.Gln300Ter)

SNV
Germline

Chr15:42390049

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA391998628

rs_2141170517

2 SubmittersRCV001956513 RCV003490976

NM_000023.4(SGCA):c.312+1G>C

SNV
Germline

Chr17:50167737

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400178062

rs_2144494642

1 SubmittersRCV002003503

NM_001130987.2(DYSF):c.2697+5G>A

SNV
Germline

Chr2:71568087

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA2573135709

rs_2092213253

4 SubmittersRCV002042107 RCV003339763 RCV005253904

NM_213599.3(ANO5):c.738C>G (p.Tyr246Ter)

SNV
Germline

Chr11:22236252

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

CA379920304

rs_570341380

1 SubmittersRCV001983040

NM_001267550.2(TTN):c.95845C>T (p.Gln31949Ter)

SNV
Germline

Chr2:178544384

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349456914

rs_2154144237

2 SubmittersRCV001980587 RCV003235647

NM_001267550.2(TTN):c.87233T>G (p.Leu29078Ter)

SNV
Germline

Chr2:178558121

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349537766

rs_2154156172

1 SubmittersRCV002026808

NM_001267550.2(TTN):c.64973-1G>C

SNV
Germline

Chr2:178584579

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349435999

rs_2154179915

1 SubmittersRCV002026846

NM_001267550.2(TTN):c.35630-1G>C

SNV
Germline

Chr2:178667526

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349509510

rs_2154262004

1 SubmittersRCV001913556

NM_001130987.2(DYSF):c.2266C>T (p.Gln756Ter)

SNV
Germline

Chr2:71561801

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy
Condition: not provided
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Reviewed By Expert Panel

CA347208953

rs_1172643225

5 SubmittersRCV001982343 RCV003989735 RCV006252491 RCV006275103 RCV005409855

NM_001267550.2(TTN):c.13720G>T (p.Glu4574Ter)

SNV
Germline

Chr2:178739513

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349606758

rs_2154317609

2 SubmittersRCV001984485 RCV005513179

NM_001267550.2(TTN):c.72574G>T (p.Glu24192Ter)

SNV
Germline

Chr2:178573558

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349646542

rs_2154170941

2 SubmittersRCV002001357 RCV004990540

NM_001267550.2(TTN):c.100172-1G>C

SNV
Germline

Chr2:178536576

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349426601

rs_2154137558

1 SubmittersRCV001980420

NM_001267550.2(TTN):c.82172G>A (p.Trp27391Ter)

SNV
Germline

Chr2:178563960

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349575082

rs_2154161781

2 SubmittersRCV001980456 RCV006249796

NM_001267550.2(TTN):c.35713+2T>A

SNV
Germline

Chr2:178667440

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349508846

rs_774814237

1 SubmittersRCV002023872

NM_001267550.2(TTN):c.17461+1G>C

SNV
Germline

Chr2:178731304

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA2001829

rs_747990127

1 SubmittersRCV001863284

NM_001267550.2(TTN):c.35545+1G>A

SNV
Germline

Chr2:178669372

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349511158

rs_2154263213

1 SubmittersRCV001863443

NM_000023.4(SGCA):c.584+1G>A

SNV
Germline

Chr17:50168573

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400180179

rs_2144497138

1 SubmittersRCV002005157

NM_017739.4(POMGNT1):c.752-2A>G

SNV
Germline

Chr1:46194403

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Conflicting Classifications

CA340183587

rs_1236287516

3 SubmittersRCV001977399 RCV002573370 RCV003464340

NM_001267550.2(TTN):c.95264G>A (p.Trp31755Ter)

SNV
Germline

Chr2:178545972

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349463426

rs_1696912764

1 SubmittersRCV002042620

NM_001267550.2(TTN):c.52103-1G>A

SNV
Germline

Chr2:178608909

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349576962

rs_2154197995

1 SubmittersRCV002021070

NM_001267550.2(TTN):c.99935G>A (p.Trp33312Ter)

SNV
Germline

Chr2:178537174

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349427124

rs_2154138051

1 SubmittersRCV002048540

NM_001267550.2(TTN):c.90418C>T (p.Gln30140Ter)

SNV
Germline

Chr2:178552482

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349510962

rs_2154151302

1 SubmittersRCV001986383

NM_001267550.2(TTN):c.73047T>G (p.Tyr24349Ter)

SNV
Germline

Chr2:178573085

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349644254

rs_2154170589

1 SubmittersRCV002023947

NM_001267550.2(TTN):c.49863C>A (p.Tyr16621Ter)

SNV
Germline

Chr2:178612858

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349600686

rs_1553699440

1 SubmittersRCV002023996

NM_001267550.2(TTN):c.104132C>G (p.Ser34711Cys)

SNV
Germline

Chr2:178532483

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA349412400

rs_767826322

3 SubmittersRCV002024071 RCV004801133

NM_001267550.2(TTN):c.102585T>A (p.Tyr34195Ter)

SNV
Germline

Chr2:178534030

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349417209

rs_1690344942

2 SubmittersRCV001998116 RCV003170223

NM_001267550.2(TTN):c.42208C>T (p.Gln14070Ter)

SNV
Germline

Chr2:178634573

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349655497

rs_2154227697

2 SubmittersRCV001998148 RCV005772299

NM_001267550.2(TTN):c.68224+1G>A

SNV
Germline

Chr2:178578805

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991167

rs_754250350

3 SubmittersRCV005505372 RCV001978626 RCV003120796

NM_001267550.2(TTN):c.106828A>T (p.Lys35610Ter)

SNV
Germline

Chr2:178528923

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349402945

rs_753984036

1 SubmittersRCV001986127

NM_001267550.2(TTN):c.76262C>A (p.Ser25421Ter)

SNV
Germline

Chr2:178569870

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349616240

rs_1707503235

1 SubmittersRCV002021608

NM_001267550.2(TTN):c.36365-1G>A

SNV
Germline

Chr2:178663903

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
TTN-related disorder
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1997510

rs_577672565

4 SubmittersRCV001916354 RCV003442954 RCV004542173 RCV004785373

NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln)

SNV
Germline

Chr2:71526275

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA49771477

rs_375071568

2 SubmittersRCV001948729 RCV002492023

NM_001267550.2(TTN):c.13408A>T (p.Lys4470Ter)

SNV
Germline

Chr2:178739825

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349608090

rs_903809826

1 SubmittersRCV001963492

NM_001267550.2(TTN):c.61850C>G (p.Ser20617Ter)

SNV
Germline

Chr2:178589875

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349468282

rs_2154184066

1 SubmittersRCV001956952

NM_001267550.2(TTN):c.93034A>T (p.Lys31012Ter)

SNV
Germline

Chr2:178548592

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349488395

rs_2154147529

2 SubmittersRCV002370623 RCV001998034

NM_213599.3(ANO5):c.1333-2A>T

SNV
Germline

Chr11:22257678

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379921703

rs_2133730668

1 SubmittersRCV001963575

NM_001267550.2(TTN):c.62526T>G (p.Tyr20842Ter)

SNV
Germline

Chr2:178589199

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349464554

rs_2049710031

1 SubmittersRCV002011044

NM_001267550.2(TTN):c.91+1G>A

SNV
Germline

Chr2:178804551

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349533249

rs_2154360987

1 SubmittersRCV001983580

NM_001267550.2(TTN):c.64673-1G>A

SNV
Germline

Chr2:178584969

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349438492

rs_2154180190

1 SubmittersRCV002040987

NM_001267550.2(TTN):c.67174C>T (p.Gln22392Ter)

SNV
Germline

Chr2:178580113

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349424326

rs_2154176072

2 SubmittersRCV002038511 RCV002551175

NM_001267550.2(TTN):c.107224-2A>G

SNV
Germline

Chr2:178528429

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349401547

rs_111401822

1 SubmittersRCV002024952

NM_001267550.2(TTN):c.72509G>A (p.Trp24170Ter)

SNV
Germline

Chr2:178573623

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349646843

rs_2154170981

1 SubmittersRCV001980882

NM_001267550.2(TTN):c.48461-1G>A

SNV
Germline

Chr2:178615485

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349609469

rs_2154206288

1 SubmittersRCV001981155

NM_001267550.2(TTN):c.82999C>T (p.Gln27667Ter)

SNV
Germline

Chr2:178563133

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349570098

rs_2154161170

2 SubmittersRCV002038392 RCV004721011

NM_001267550.2(TTN):c.67569G>A (p.Val22523=)

SNV
Germline

Chr2:178579628

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1991284

rs_376719475

2 SubmittersRCV002145357 RCV002260717

NM_001267550.2(TTN):c.34787-12A>G

SNV
Germline

Chr2:178672715

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA60979143

rs_1023726354

2 SubmittersRCV002131960 RCV005254028

NM_001267550.2(TTN):c.39384C>T (p.Thr13128=)

SNV
Germline

Chr2:178651745

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1996732

rs_746067865

2 SubmittersRCV002188282 RCV003491052

NM_201384.3(PLEC):c.11509C>G (p.Leu3837Val)

SNV
Germline

Chr8:143918312

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924333

rs_782299926

3 SubmittersRCV002146778 RCV003491042 RCV004046323

NM_001267550.2(TTN):c.101622C>T (p.Asn33874=)

SNV
Germline

Chr2:178534993

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1985860

rs_780835388

4 SubmittersRCV002205814 RCV002382318 RCV003138073

NM_201384.3(PLEC):c.6348G>A (p.Arg2116=)

SNV
Germline

Chr8:143923581

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4926028

rs_782758062

2 SubmittersRCV002153354 RCV003134393

NM_201384.3(PLEC):c.789C>T (p.Pro263=)

SNV
Germline

Chr8:143935047

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4928319

rs_782100354

2 SubmittersRCV002083521 RCV003134385

NM_001267550.2(TTN):c.58732+8T>C

SNV
Germline

Chr2:178593560

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1310540724

rs_2050707804

2 SubmittersRCV002209984 RCV003886557

NM_001267550.2(TTN):c.6315A>C (p.Pro2105=)

SNV
Germline

Chr2:178775549

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430280097

rs_1347825753

2 SubmittersRCV002088569 RCV005635455

NM_001267550.2(TTN):c.62317C>T (p.Leu20773=)

SNV
Germline

Chr2:178589408

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430265484

rs_375173874

2 SubmittersRCV002180897 RCV004598190

NM_001267550.2(TTN):c.18938G>C (p.Ser6313Thr)

SNV
Germline

Chr2:178729100

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2001495

rs_200120672

2 SubmittersRCV002136763 RCV003138082

NM_201384.3(PLEC):c.8736G>A (p.Ala2912=)

SNV
Germline

Chr8:143921085

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925204

rs_561518097

2 SubmittersRCV002165699 RCV003134375

NM_001267550.2(TTN):c.60954G>A (p.Val20318=)

SNV
Germline

Chr2:178590771

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA1992420

rs_748022439

3 SubmittersRCV002108592 RCV002454505 RCV004529097

NM_001267550.2(TTN):c.96229C>A (p.Arg32077=)

SNV
Germline

Chr2:178543915

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430241644

rs_751316145

2 SubmittersRCV002200769 RCV002373030

NM_001267550.2(TTN):c.103830C>T (p.Arg34610=)

SNV
Germline

Chr2:178532785

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430236438

rs_1321633640

2 SubmittersRCV002207334 RCV003138072

NM_001267550.2(TTN):c.26607G>A (p.Glu8869=)

SNV
Germline

Chr2:178714051

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1999961

rs_747118425

2 SubmittersRCV002139455 RCV003138086

NM_201384.3(PLEC):c.2559C>T (p.Ser853=)

SNV
Germline

Chr8:143930197

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA187619339

rs_976620376

3 SubmittersRCV002175422 RCV003134377

NM_017739.4(POMGNT1):c.489C>T (p.Phe163=)

SNV
Germline

Chr1:46195856

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA417719063

rs_1379184772

2 SubmittersRCV002147518 RCV003889057

NM_001267550.2(TTN):c.92682C>T (p.Phe30894=)

SNV
Germline

Chr2:178548944

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430243436

rs_2154147790

2 SubmittersRCV002214183 RCV005225564

NM_001267550.2(TTN):c.56759G>A (p.Trp18920Ter)

SNV
Germline

Chr2:178598951

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349527206

rs_2154190939

2 SubmittersRCV002222840 RCV003093865

NM_000337.6(SGCD):c.289C>T (p.Arg97Ter)

SNV
Germline

Chr5:156508697

Pathogenic

Condition: not provided
Dilated cardiomyopathy 1L
Autosomal recessive limb-girdle muscular dystrophy type 2F
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA3530549

rs_758700138

5 SubmittersRCV002224195 RCV003475307 RCV003619756 RCV004999675

NM_001267550.2(TTN):c.583+2T>C

SNV
Germline

Chr2:178800393

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2006299

rs_772731855

3 SubmittersRCV002224532 RCV004681463 RCV005209564

NM_001267550.2(TTN):c.17032C>T (p.Arg5678Ter)

SNV
Germline

Chr2:178731843

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349576434

rs_1199616569

2 SubmittersRCV002224685 RCV003774665

NM_001267550.2(TTN):c.25922-1G>C

SNV
Germline

Chr2:178715265

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349477060

rs_2154297723

2 SubmittersRCV002224711 RCV003093883

NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter)

SNV
Germline

Chr2:178568947

Likely pathogenic

6 conditions
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA1989810

rs_542074139

4 SubmittersRCV002496166 RCV002224727 RCV003339936

NM_001267550.2(TTN):c.32665C>T (p.Gln10889Ter)

SNV
Germline

Chr2:178684387

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349546305

rs_1577378975

2 SubmittersRCV002224728 RCV006558654

NM_001267550.2(TTN):c.100239G>A (p.Trp33413Ter)

SNV
Germline

Chr2:178536508

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349426459

rs_1575311499

3 SubmittersRCV002224950 RCV004764983 RCV006558656

NM_001267550.2(TTN):c.72688G>T (p.Glu24230Ter)

SNV
Germline

Chr2:178573444

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349646027

rs_2154170836

1 SubmittersRCV002225169

NM_001101426.4(CRPPA):c.1120-19T>A

SNV
Germline

Chr7:16216216

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4169377

rs_773390529

2 SubmittersRCV002238317 RCV004694179

NM_001101426.4(CRPPA):c.571G>A (p.Val191Ile)

SNV
Germline

Chr7:16376205

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4169567

rs_757165158

3 SubmittersRCV002239468 RCV003491055 RCV005804518

NM_001267550.2(TTN):c.39715G>T (p.Glu13239Ter)

SNV
Germline

Chr2:178650266

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA60967205

rs_879110681

2 SubmittersRCV005213626 RCV005239326

NM_001267550.2(TTN):c.106680G>C (p.Lys35560Asn)

SNV
Germline

Chr2:178529071

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1985058

rs_779206858

3 SubmittersRCV002243601 RCV003093934 RCV005405874

NM_213599.3(ANO5):c.1721A>G (p.Tyr574Cys)

SNV
Germline

Chr11:22262219

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379922675

rs_2133747827

3 SubmittersRCV002248968 RCV003101336 RCV005662435

NM_017739.4(POMGNT1):c.235+2T>G

SNV
Germline

Chr1:46196968

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA340191795

rs_2148218654

2 SubmittersRCV002249138 RCV003101338

NM_001077365.2(POMT1):c.986+1G>A

SNV
Germline

Chr9:131511468

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Thymoma

Criteria Provided
Multiple Submitters
No Conflicts

CA200785779

rs_961071228

5 SubmittersRCV002250254 RCV002496183 RCV003094035 RCV005930062

NM_000232.5(SGCB):c.243+2T>C

SNV
Germline

Chr4:52033429

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Single Submitter

CA356877765

rs_1553940661

1 SubmittersRCV002250345

NM_000232.5(SGCB):c.3G>T (p.Met1Ile)

SNV
Germline

Chr4:52038257

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Single Submitter

CA356878725

rs_2109380946

1 SubmittersRCV002247151

NM_013382.7(POMT2):c.1738T>C (p.Ser580Pro)

SNV
Germline

Chr14:77280068

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA263818969

rs_370529777

1 SubmittersRCV002251056

NM_003673.4(TCAP):c.110+1G>A

SNV
Germline

Chr17:39665470

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2G

Criteria Provided
Single Submitter

CA399303255

rs_113187448

1 SubmittersRCV002251258

NM_000231.3(SGCG):c.581T>G (p.Leu194Ter)

SNV
Germline

Chr13:23320639

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA387502439

rs_547818652

2 SubmittersRCV002254411

NM_000023.4(SGCA):c.956+1G>A

SNV
Germline

Chr17:50170352

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400182317

rs_2509125625

2 SubmittersRCV002466747

NM_001267550.2(TTN):c.38876-2A>C

SNV
Germline

Chr2:178652933

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349465884

rs_1185989004

5 SubmittersRCV002265064 RCV002281654

NM_001267550.2(TTN):c.39109G>T (p.Glu13037Ter)

SNV
Germline

Chr2:178652476

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive titinopathy

Criteria Provided
Single Submitter

CA60969289

rs_928476699

2 SubmittersRCV002281658 RCV006558715

NM_001267550.2(TTN):c.43960C>T (p.Gln14654Ter)

SNV
Germline

Chr2:178631088

Likely pathogenic

Primary familial dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349646666

rs_1463883512

3 SubmittersRCV002266152 RCV005225595 RCV005405878

NM_001077365.2(POMT1):c.699+68T>C

SNV
Germline

Chr9:131510064

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5293388

rs_759254028

4 SubmittersRCV002271903 RCV003464426 RCV003774862 RCV004017915

NM_000070.3(CAPN3):c.545T>A (p.Leu182Gln)

SNV
Germline

Chr15:42387799

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Single Submitter

CA391997842

rs_2141164715

1 SubmittersRCV002271907

NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro)

SNV
Germline

Chr2:71520882

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347212192

rs_2152742282

2 SubmittersRCV002272728 RCV005095973

NM_001267550.2(TTN):c.99135G>A (p.Trp33045Ter)

SNV
Germline

Chr2:178538694

Likely pathogenic

Neurodevelopmental delay
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349430881

rs_2154139293

2 SubmittersRCV002274386 RCV005213641

NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter)

SNV
Germline

Chr2:178545895

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA349462765

rs_780414947

8 SubmittersRCV002274511 RCV002363738 RCV003988880 RCV004774644 RCV003774874 RCV004529112

NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)

SNV
Germline

Chr19:46756777

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Single Submitter

CA406497140

rs_1318972801

2 SubmittersRCV003471303 RCV003107986

NM_001267550.2(TTN):c.57545-2A>G

SNV
Germline

Chr2:178595811

Pathogenic/Likely pathogenic

Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA1993025

rs_747068091

2 SubmittersRCV002466288 RCV003774891

NM_001199563.2(BVES):c.578T>G (p.Ile193Ser)

SNV
Germline

Chr6:105124617

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2X

No Assertion Criteria Provided

CA365317715

rs_2114489353

1 SubmittersRCV002279902

NM_001267550.2(TTN):c.100766-1G>T

SNV
Germline

Chr2:178535850

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA1985981

rs_185589320

2 SubmittersRCV002282944 RCV003774927

NM_012210.4(TRIM32):c.73G>T (p.Glu25Ter)

SNV
Germline

Chr9:116697815

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Single Submitter

CA374647503

rs_2491056549

1 SubmittersRCV002281786

NM_000023.4(SGCA):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:50166041

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA400210471

rs_2509113878

3 SubmittersRCV002281872 RCV003621621

NM_152305.3(POGLUT1):c.292C>T (p.Arg98Trp)

SNV
Germline

Chr3:119471424

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2R1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2554795

rs_762277732

3 SubmittersRCV002287545 RCV003491074

NM_001130987.2(DYSF):c.5943C>A (p.Cys1981Ter)

SNV
Germline

Chr2:71679115

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

No Assertion Criteria Provided

CA347226332

rs_2152967795

1 SubmittersRCV002287920

NM_001130987.2(DYSF):c.2472C>A (p.Tyr824Ter)

SNV
Germline

Chr2:71564120

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347211347

rs_765420779

2 SubmittersRCV002287921 RCV005025766

NM_001130987.2(DYSF):c.769C>T (p.Gln257Ter)

SNV
Germline

Chr2:71515632

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

CA347208337

rs_2545413054

2 SubmittersRCV002287923 RCV003574900

NM_213599.3(ANO5):c.294+1G>A

SNV
Germline

Chr11:22221211

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379925597

rs_1852640009

1 SubmittersRCV002288280

NM_213599.3(ANO5):c.2117G>T (p.Arg706Leu)

SNV
Germline

Chr11:22272871

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Conflicting Classifications

CA379923810

rs_926233739

3 SubmittersRCV002289338 RCV003097778 RCV003324851

NM_213599.3(ANO5):c.40G>A (p.Gly14Arg)

SNV
Germline

Chr11:22193532

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA379921954

rs_2494716427

3 SubmittersRCV002290320 RCV003138157 RCV003774965

NM_001267550.2(TTN):c.106795G>C (p.Ala35599Pro)

SNV
Germline

Chr2:178528956

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1985043

rs_754744644

4 SubmittersRCV002293028 RCV002416561 RCV005213651

NM_024301.5(FKRP):c.1015C>G (p.Arg339Gly)

SNV
Germline

Chr19:46756465

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Conflicting Classifications

CA406496471

rs_2122629515

2 SubmittersRCV002300345 RCV005409873

NM_024301.5(FKRP):c.19C>T (p.Gln7Ter)

SNV
Germline

Chr19:46755469

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Single Submitter

CA406494506

rs_2513984206

1 SubmittersRCV002308725

NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)

SNV
Germline

Chr2:71570648

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347216989

rs_2545823705

2 SubmittersRCV002306506 RCV003491083

NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)

SNV
Unknown

Chr2:71665280

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347221143

rs_2094975847

1 SubmittersRCV002306561

NM_000070.3(CAPN3):c.543C>A (p.Cys181Ter)

SNV
Unknown

Chr15:42387797

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391997838

rs_2548257965

1 SubmittersRCV002306568

NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter)

SNV
Germline

Chr2:71660571

Pathogenic/Likely pathogenic

Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347219957

rs_376679461

2 SubmittersRCV002309767 RCV003738180

NM_000070.3(CAPN3):c.2236G>T (p.Glu746Ter)

SNV
Unknown

Chr15:42410639

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392001882

rs_752155690

1 SubmittersRCV002309801

NM_001079802.2(FKTN):c.400G>T (p.Gly134Ter)

SNV
Unknown

Chr9:105604245

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Criteria Provided
Single Submitter

CA374331923

rs_1554752862

1 SubmittersRCV002309809

NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter)

SNV
Unknown

Chr2:71526241

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347213027

rs_2545491750

1 SubmittersRCV002310010

NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter)

SNV
Unknown

Chr2:71665252

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347221083

rs_2546547546

1 SubmittersRCV002310053

NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter)

SNV
Germline

Chr2:71568306

Pathogenic/Likely pathogenic

Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347215181

rs_2545800359

2 SubmittersRCV002310059 RCV003574904

NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter)

SNV
Unknown

Chr2:71513859

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347207385

rs_2545396702

1 SubmittersRCV002307876

NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)

SNV
Unknown

Chr2:71570280

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347216520

rs_2545819541

1 SubmittersRCV002307952

NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter)

SNV
Unknown

Chr2:71568256

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347214738

rs_1324029651

1 SubmittersRCV002308036

NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter)

SNV
Unknown

Chr2:71513904

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347207611

rs_2545397244

1 SubmittersRCV002308195

NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter)

SNV
Unknown

Chr2:71553817

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347218812

rs_2545694520

1 SubmittersRCV002308262

NM_000231.3(SGCG):c.260T>A (p.Leu87Ter)

SNV
Unknown

Chr13:23234675

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA387506611

rs_2541900264

1 SubmittersRCV002308375

NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter)

SNV
Unknown

Chr2:71561774

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347208705

rs_369209261

1 SubmittersRCV002309053

NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter)

SNV
Unknown

Chr2:71564178

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347211719

rs_2545770353

1 SubmittersRCV002309060

NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)

SNV
Unknown

Chr2:71669720

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347224057

rs_2546579917

1 SubmittersRCV002306860

NM_000231.3(SGCG):c.302C>A (p.Ser101Ter)

SNV
Unknown

Chr13:23250634

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA387501531

rs_886042370

1 SubmittersRCV002306935

NM_000070.3(CAPN3):c.555C>G (p.Tyr185Ter)

SNV
Unknown

Chr15:42387809

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA7511055

rs_763449646

1 SubmittersRCV002307037

NM_000070.3(CAPN3):c.760A>T (p.Lys254Ter)

SNV
Unknown

Chr15:42389055

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391998327

rs_2548260565

1 SubmittersRCV002307064

NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)

SNV
Unknown

Chr2:71665180

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Single Submitter

CA347220938

rs_2546546851

1 SubmittersRCV002307253

NM_000070.3(CAPN3):c.2281C>T (p.Gln761Ter)

SNV
Unknown

Chr15:42410901

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392001988

rs_2548294312

1 SubmittersRCV002307272

NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)

SNV
Unknown

Chr2:71644036

Likely pathogenic

Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347218020

rs_2546398668

1 SubmittersRCV002310270

NM_001079802.2(FKTN):c.245T>A (p.Leu82Ter)

SNV
Unknown

Chr9:105601224

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Criteria Provided
Single Submitter

CA374331561

rs_2539334508

1 SubmittersRCV002310369

NM_001267550.2(TTN):c.68993C>A (p.Ser22998Ter)

SNV
Germline

Chr2:178577342

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349670562

rs_2468776213

2 SubmittersRCV002333444 RCV006558986

NM_001267550.2(TTN):c.71421T>G (p.Tyr23807Ter)

SNV
Germline

Chr2:178574711

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349653815

rs_745999472

2 SubmittersRCV002333907 RCV005227615

NM_024301.5(FKRP):c.329G>C (p.Arg110Pro)

SNV
Germline

Chr19:46755779

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA406495113

rs_2054899311

2 SubmittersRCV002326203 RCV005058290

NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter)

SNV
Germline

Chr2:178592137

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349490501

rs_2469513309

2 SubmittersRCV002445643 RCV003099335

NM_001267550.2(TTN):c.64810C>T (p.Arg21604Ter)

SNV
Germline

Chr2:178584831

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA60962232

rs_767011515

3 SubmittersRCV002363848 RCV003102439 RCV004764984

NM_001267550.2(TTN):c.66679C>T (p.Gln22227Ter)

SNV
Germline

Chr2:178581589

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349428418

rs_2468989119

2 SubmittersRCV002357596 RCV005227597

NM_001267550.2(TTN):c.66846T>G (p.Tyr22282Ter)

SNV
Germline

Chr2:178580533

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349425756

rs_779240170

2 SubmittersRCV002357699 RCV003775777

NM_001267550.2(TTN):c.468C>T (p.Gly156=)

SNV
Germline

Chr2:178800510

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2006318

rs_761096069

2 SubmittersRCV002335243 RCV003102615

NM_001267550.2(TTN):c.76293T>G (p.Tyr25431Ter)

SNV
Germline

Chr2:178569839

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349616078

rs_763605078

2 SubmittersRCV002340679 RCV005209575

NM_001267550.2(TTN):c.84171A>G (p.Gly28057=)

SNV
Germline

Chr2:178561961

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1988816

rs_746728021

3 SubmittersRCV002347510 RCV003138205 RCV003776146

NM_001267550.2(TTN):c.13174A>T (p.Arg4392Ter)

SNV
Germline

Chr2:178740059

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349609059

rs_2530637215

3 SubmittersRCV002347570 RCV004785611 RCV005215834

NM_001267550.2(TTN):c.73200T>A (p.Tyr24400Ter)

SNV
Germline

Chr2:178572932

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349643327

rs_1250752630

2 SubmittersRCV002342387 RCV003094782

NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter)

SNV
Germline

Chr2:178777423

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349463355

rs_765316175

2 SubmittersRCV002339863 RCV003094731

NM_001267550.2(TTN):c.82184T>A (p.Leu27395Ter)

SNV
Germline

Chr2:178563948

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349575009

rs_2468186675

2 SubmittersRCV002351576 RCV006559055

NM_001267550.2(TTN):c.9829C>T (p.Gln3277Ter)

SNV
Germline

Chr2:178764686

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349674303

rs_2532188334

2 SubmittersRCV002376587 RCV003774201

NM_001267550.2(TTN):c.101397C>G (p.Thr33799=)

SNV
Germline

Chr2:178535218

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430237862

rs_1258137892

3 SubmittersRCV002384995 RCV003776388 RCV006255404

NM_001267550.2(TTN):c.104941G>T (p.Glu34981Ter)

SNV
Germline

Chr2:178531674

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349409836

rs_2468418880

2 SubmittersRCV002409779 RCV005227682

NM_001267550.2(TTN):c.105063C>T (p.Gly35021=)

SNV
Germline

Chr2:178531552

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA1985318

rs_757125254

3 SubmittersRCV002409835 RCV003099746 RCV005931867

NM_001267550.2(TTN):c.13729G>T (p.Glu4577Ter)

SNV
Germline

Chr2:178739504

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349606714

rs_755338726

2 SubmittersRCV002414421 RCV003099959

NM_001267550.2(TTN):c.94562C>G (p.Ser31521Ter)

SNV
Germline

Chr2:178546866

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349472538

rs_2469069452

2 SubmittersRCV002377929 RCV003776303

NM_001267550.2(TTN):c.41439G>A (p.Arg13813=)

SNV
Germline

Chr2:178636132

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA61006563

rs_370755303

3 SubmittersRCV002391882 RCV003491104 RCV006559233

NM_001267550.2(TTN):c.13937C>G (p.Ser4646Ter)

SNV
Germline

Chr2:178739296

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349605643

rs_2530597033

2 SubmittersRCV002387427 RCV005215872

NM_001267550.2(TTN):c.1566A>C (p.Val522=)

SNV
Germline

Chr2:178792168

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430114210

rs_2533909416

2 SubmittersRCV002405516 RCV005227729

NM_001267550.2(TTN):c.14301C>A (p.Cys4767Ter)

SNV
Germline

Chr2:178738152

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349602096

rs_1217230000

2 SubmittersRCV002385694 RCV003774263

NM_001267550.2(TTN):c.43263G>A (p.Glu14421=)

SNV
Germline

Chr2:178632743

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430277019

rs_2059955751

3 SubmittersRCV002400859 RCV002473377 RCV003774405

NM_001267550.2(TTN):c.49949-1G>T

SNV
Germline

Chr2:178612577

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349600251

rs_2470545999

2 SubmittersRCV002445990 RCV003101188

NM_001267550.2(TTN):c.48760+1G>T

SNV
Germline

Chr2:178614846

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349608127

rs_1474000709

2 SubmittersRCV002417872 RCV003101092

NM_001267550.2(TTN):c.48760G>T (p.Glu16254Ter)

SNV
Germline

Chr2:178614847

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349608131

rs_2470693959

2 SubmittersRCV002432529 RCV003775121

NM_001267550.2(TTN):c.49648+1G>T

SNV
Germline

Chr2:178613160

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349601707

rs_2056668331

2 SubmittersRCV002428398 RCV003101161

NM_001267550.2(TTN):c.50767G>T (p.Glu16923Ter)

SNV
Germline

Chr2:178611462

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349592770

rs_2470493165

2 SubmittersRCV002448483 RCV005215909

NM_001267550.2(TTN):c.52041T>A (p.Tyr17347Ter)

SNV
Germline

Chr2:178609269

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349577837

rs_2154198344

2 SubmittersRCV002430826 RCV005227759

NM_001267550.2(TTN):c.52065C>T (p.His17355=)

SNV
Germline

Chr2:178609245

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1994067

rs_766993798

2 SubmittersRCV002430862 RCV003101874

NM_001267550.2(TTN):c.49500C>A (p.Cys16500Ter)

SNV
Germline

Chr2:178613783

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349604299

rs_754776552

2 SubmittersRCV002420132 RCV003775146

NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)

SNV
Germline

Chr2:178604035

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA1993596

rs_775367836

3 SubmittersRCV002439281 RCV002468664 RCV003102166

NM_001267550.2(TTN):c.33743-1G>C

SNV
Germline

Chr2:178678831

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349533814

rs_2473852727

2 SubmittersRCV002461682 RCV005215929

NM_017739.4(POMGNT1):c.1686T>A (p.Cys562Ter)

SNV
Germline

Chr1:46189953

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76

Criteria Provided
Multiple Submitters
No Conflicts

CA340171534

rs_2525345067

2 SubmittersRCV002465017 RCV005019210

NM_000859.3(HMGCR):c.2465G>A (p.Gly822Asp)

SNV
Germline

Chr5:75359992

Pathogenic

Muscular dystrophy, limb-girdle, autosomal recessive 28
Limb-girdle muscular dystrophy

Criteria Provided
Single Submitter

CA360129628

rs_2478804975

2 SubmittersRCV003228086 RCV003232630

NM_001267550.2(TTN):c.49949-2A>T

SNV
Germline

Chr2:178612578

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349600260

rs_2470546043

2 SubmittersRCV002467156 RCV005215932

NM_001130987.2(DYSF):c.3180G>A (p.Trp1060Ter)

SNV
Germline

Chr2:71570693

Pathogenic

DYSF-related disorder
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347217077

rs_1559186257

2 SubmittersRCV004548301 RCV004999773

NM_024301.5(FKRP):c.526C>G (p.Arg176Gly)

SNV
Germline

Chr19:46755976

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Single Submitter

CA406495499

rs_1555738502

1 SubmittersRCV002470470

NM_013382.7(POMT2):c.1726-8T>C

SNV
Germline

Chr14:77280088

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Conflicting Classifications

CA263818984

rs_764878921

2 SubmittersRCV002474376 RCV003775538

NM_021942.6(TRAPPC11):c.2574T>C (p.Ser858=)

SNV
Germline

Chr4:183694669

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Conflicting Classifications

CA442579698

rs_766143826

2 SubmittersRCV002475053 RCV002571531

NM_001267550.2(TTN):c.21576A>G (p.Ala7192=)

SNV
Germline

Chr2:178723524

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430288127

rs_1271065895

2 SubmittersRCV002475460 RCV006559488

NM_001267550.2(TTN):c.67302T>G (p.Tyr22434Ter)

SNV
Germline

Chr2:178579985

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349424044

rs_749000334

2 SubmittersRCV003237368 RCV006559492

NM_001267550.2(TTN):c.68737G>T (p.Glu22913Ter)

SNV
Germline

Chr2:178577689

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349671272

rs_2468794802

2 SubmittersRCV003237370 RCV006559493

NM_001267550.2(TTN):c.13732G>T (p.Glu4578Ter)

SNV
Germline

Chr2:178739501

Likely pathogenic

Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349606699

rs_2530607571

3 SubmittersRCV003237377 RCV003775552 RCV005405924

NM_058246.4(DNAJB6):c.287C>T (p.Pro96Leu)

SNV
Germline

Chr7:157367424

Pathogenic

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Single Submitter

CA370166138

rs_387907047

1 SubmittersRCV003062151

NM_201384.3(PLEC):c.7312C>T (p.Arg2438Ter)

SNV
Germline

Chr8:143922617

Pathogenic

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Single Submitter

CA372526262

rs_1554690016

1 SubmittersRCV003037307

NM_201384.3(PLEC):c.5689C>T (p.Gln1897Ter)

SNV
Germline

Chr8:143924240

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

CA372542537

rs_2537869606

1 SubmittersRCV003037308

NM_201384.3(PLEC):c.12352C>T (p.Leu4118Phe)

SNV
Germline

Chr8:143917469

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924110

rs_571797590

3 SubmittersRCV003060472 RCV003134605 RCV005465876

NM_201384.3(PLEC):c.2457+1G>A

SNV
Germline

Chr8:143930383

Likely pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Single Submitter

CA187619392

rs_368904034

1 SubmittersRCV003076883

NM_000070.3(CAPN3):c.1322G>A (p.Gly441Asp)

SNV
Germline

Chr15:42399620

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA391999585

rs_2548274050

3 SubmittersRCV003041224 RCV005419541

NM_000070.3(CAPN3):c.1354+1G>A

SNV
Germline

Chr15:42399653

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Multiple Submitters
No Conflicts

CA391999648

rs_2141194090

3 SubmittersRCV003058459 RCV003459731

NM_000070.3(CAPN3):c.1823G>A (p.Arg608Lys)

SNV
Germline

Chr15:42408233

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
not specified

Criteria Provided
Conflicting Classifications

CA392000705

rs_2548287787

3 SubmittersRCV003064250 RCV003475496 RCV004801272

NM_000023.4(SGCA):c.946C>T (p.Arg316Trp)

SNV
Germline

Chr17:50170341

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA8643946

rs_765864199

1 SubmittersRCV003073926

NM_000231.3(SGCG):c.195+5G>A

SNV
Germline

Chr13:23203894

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA246629092

rs_532463691

2 SubmittersRCV003071044 RCV004790342

NM_000231.3(SGCG):c.205G>C (p.Gly69Arg)

SNV
Germline

Chr13:23234620

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA387506395

rs_2541899936

3 SubmittersRCV003062566

NM_201384.3(PLEC):c.8949C>G (p.Ala2983=)

SNV
Germline

Chr8:143920872

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA187611535

rs_201312718

2 SubmittersRCV003074274 RCV003134614

NM_213599.3(ANO5):c.1025G>A (p.Cys342Tyr)

SNV
Germline

Chr11:22250752

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

CA379920969

rs_1853786211

1 SubmittersRCV003058294

NM_213599.3(ANO5):c.1499C>T (p.Ser500Phe)

SNV
Germline

Chr11:22259610

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

CA379922165

rs_2494306436

1 SubmittersRCV003058295

NM_201384.3(PLEC):c.826-1G>A

SNV
Germline

Chr8:143934930

Likely pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Single Submitter

CA372586856

rs_1828572665

1 SubmittersRCV003060796

NM_001130987.2(DYSF):c.3334T>C (p.Trp1112Arg)

SNV
Germline

Chr2:71574303

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347218251

rs_2545876644

3 SubmittersRCV003085524 RCV003465948 RCV005406580

NM_017739.4(POMGNT1):c.1609A>T (p.Lys537Ter)

SNV
Germline

Chr1:46190513

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA340171842

rs_2525355533

3 SubmittersRCV003079779 RCV003459743 RCV005863807

NM_001267550.2(TTN):c.42978C>A (p.Tyr14326Ter)

SNV
Germline

Chr2:178633295

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349652991

rs_369959066

1 SubmittersRCV003078649

NM_201384.3(PLEC):c.2370C>T (p.Ala790=)

SNV
Germline

Chr8:143930471

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4927558

rs_533090572

2 SubmittersRCV003088042 RCV003134645

NM_012470.4(TNPO3):c.831G>C (p.Glu277Asp)

SNV
Germline

Chr7:129001100

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4478321

rs_748070271

2 SubmittersRCV003091491

NM_001130987.2(DYSF):c.5183C>T (p.Pro1728Leu)

SNV
Germline

Chr2:71665170

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Conflicting Classifications

CA1707284

rs_542182076

2 SubmittersRCV003074963 RCV003340619

NM_000070.3(CAPN3):c.1193+1G>A

SNV
Germline

Chr15:42396878

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391999291

rs_2548270234

1 SubmittersRCV003061609

NM_001267550.2(TTN):c.51436+2T>C

SNV
Germline

Chr2:178610088

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349585822

rs_2055953692

1 SubmittersRCV003091117

NM_032237.5(POMK):c.247C>T (p.Gln83Ter)

SNV
Germline

Chr8:43103795

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Limb-girdle muscular dystrophy due to POMK deficiency

Criteria Provided
Single Submitter

CA4736226

rs_751981817

1 SubmittersRCV003088398

NM_001267550.2(TTN):c.36280+2T>G

SNV
Germline

Chr2:178664458

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349499666

rs_1266861758

1 SubmittersRCV003082574

NM_001267550.2(TTN):c.40057+1G>A

SNV
Germline

Chr2:178649247

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349445563

rs_1221769715

1 SubmittersRCV003095443

NM_201384.3(PLEC):c.448C>T (p.Gln150Ter)

SNV
Germline

Chr8:143936002

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Single Submitter

CA372589290

rs_1360142371

1 SubmittersRCV003090424

NM_000070.3(CAPN3):c.665G>A (p.Gly222Glu)

SNV
Germline

Chr15:42388960

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391998108

rs_2548260237

1 SubmittersRCV003085020

NM_017739.4(POMGNT1):c.1002A>C (p.Thr334=)

SNV
Germline

Chr1:46193588

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA833539

rs_768588675

2 SubmittersRCV003087070 RCV003889238

NM_001267550.2(TTN):c.30598G>T (p.Glu10200Ter)

SNV
Germline

Chr2:178701528

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349567733

rs_779015756

1 SubmittersRCV003090320

NM_001267550.2(TTN):c.54717C>T (p.Gly18239=)

SNV
Germline

Chr2:178603970

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430269716

rs_368468642

3 SubmittersRCV003092390 RCV004073079 RCV003435874

NM_000070.3(CAPN3):c.1536+1G>T

SNV
Germline

Chr15:42402136

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA392000057

rs_1301292668

2 SubmittersRCV002628212

NM_032608.7(MYO18B):c.820G>A (p.Gly274Ser)

SNV
Germline

Chr22:25768736

Conflicting classifications of pathogenicity

Condition: not provided
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10159696

rs_760716300

2 SubmittersRCV002606229 RCV005622204

NM_213599.3(ANO5):c.1964G>A (p.Trp655Ter)

SNV
Germline

Chr11:22270377

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379923359

rs_2494363622

1 SubmittersRCV002632405

NM_001267550.2(TTN):c.36202+1G>T

SNV
Germline

Chr2:178664653

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1997631

rs_758622001

3 SubmittersRCV002650956 RCV006435300 RCV005620468

NM_001267550.2(TTN):c.36364+1G>C

SNV
Germline

Chr2:178664014

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1997535

rs_777040601

2 SubmittersRCV002633420 RCV004823117

NM_000070.3(CAPN3):c.134C>T (p.Ala45Val)

SNV
Germline

Chr15:42359939

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA391994452

rs_2548224782

2 SubmittersRCV003143525 RCV002659677

NM_012470.4(TNPO3):c.2413A>G (p.Thr805Ala)

SNV
Germline

Chr7:128972443

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4477880

rs_759300872

2 SubmittersRCV002654960 RCV004676168

NM_001130987.2(DYSF):c.345+1G>A

SNV
Germline

Chr2:71503320

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347204681

rs_2152715844

2 SubmittersRCV002664239 RCV005409909

NM_001130987.2(DYSF):c.4078C>G (p.Arg1360Gly)

SNV
Germline

Chr2:71611483

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA347228416

rs_199870606

3 SubmittersRCV002664240 RCV003459773 RCV005028321

NM_001267550.2(TTN):c.106978C>T (p.Gln35660Ter)

SNV
Germline

Chr2:178528773

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349402355

rs_1687693219

1 SubmittersRCV002651566

NM_001267550.2(TTN):c.92146C>T (p.Gln30716Ter)

SNV
Germline

Chr2:178549576

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349494393

rs_2469168482

1 SubmittersRCV002651568

NM_001267550.2(TTN):c.87179C>G (p.Ser29060Ter)

SNV
Germline

Chr2:178558175

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349538050

rs_2469559691

1 SubmittersRCV002651570

NM_001267550.2(TTN):c.80539C>T (p.Gln26847Ter)

SNV
Germline

Chr2:178565593

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA60988923

rs_561152891

2 SubmittersRCV002651571 RCV006251191

NM_001267550.2(TTN):c.66254C>A (p.Ser22085Ter)

SNV
Germline

Chr2:178582115

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349429530

rs_2047911570

2 SubmittersRCV002651572 RCV005412486

NM_001267550.2(TTN):c.50467C>T (p.Gln16823Ter)

SNV
Germline

Chr2:178611842

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349595878

rs_2470511151

2 SubmittersRCV002651573 RCV004775310

NM_001267550.2(TTN):c.14372-2A>G

SNV
Germline

Chr2:178736076

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA2002407

rs_747942388

2 SubmittersRCV002664274 RCV004764991

NM_013382.7(POMT2):c.1892-1G>C

SNV
Germline

Chr14:77278870

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390514289

rs_2503156505

1 SubmittersRCV002628828

NM_001267550.2(TTN):c.18718C>T (p.Arg6240Ter)

SNV
Germline

Chr2:178729438

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60977785

rs_867025413

1 SubmittersRCV002624015

NM_013382.7(POMT2):c.127A>T (p.Lys43Ter)

SNV
Germline

Chr14:77320555

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Multiple Submitters
No Conflicts

CA390504652

rs_1450297382

2 SubmittersRCV002647894 RCV003475518

NM_000023.4(SGCA):c.271G>A (p.Gly91Ser)

SNV
Germline

Chr17:50167695

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA400177785

rs_890921874

4 SubmittersRCV002629406 RCV005433332

NM_001267550.2(TTN):c.31557C>T (p.His10519=)

SNV
Germline

Chr2:178693646

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1998914

rs_753136249

2 SubmittersRCV002640439 RCV003140134

NM_001267550.2(TTN):c.39974-1G>A

SNV
Germline

Chr2:178649332

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA60966157

rs_879054303

1 SubmittersRCV002644535

NM_000232.5(SGCB):c.544A>G (p.Thr182Ala)

SNV
Germline

Chr4:52028807

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E
Sialidosis
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA356876835

rs_751427686

3 SubmittersRCV002664341 RCV004540598 RCV004526969

NM_000232.5(SGCB):c.275T>C (p.Ile92Thr)

SNV
Germline

Chr4:52029832

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA356877486

rs_1737204592

4 SubmittersRCV002651826 RCV006460483

NM_001267550.2(TTN):c.55636G>T (p.Glu18546Ter)

SNV
Germline

Chr2:178601361

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349539579

rs_2469998833

2 SubmittersRCV002511487 RCV006559508

NM_000231.3(SGCG):c.-1+5G>A

SNV
Germline

Chr13:23181080

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2C
not specified

Criteria Provided
Conflicting Classifications

CA696632990

rs_1394135402

3 SubmittersRCV003105236 RCV005240687

NM_001267550.2(TTN):c.60049C>T (p.Gln20017Ter)

SNV
Germline

Chr2:178591770

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349487578

rs_2469494483

2 SubmittersRCV003112135 RCV004992568

NM_021942.6(TRAPPC11):c.1702C>T (p.Arg568Ter)

SNV
Germline

Chr4:183685343

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Multiple Submitters
No Conflicts

CA3151998

rs_200561007

2 SubmittersRCV003112145

NM_000070.3(CAPN3):c.1681T>C (p.Tyr561His)

SNV
Germline

Chr15:42402938

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA392000374

rs_2548279479

2 SubmittersRCV003112307

NM_201384.3(PLEC):c.535C>T (p.Arg179Ter)

SNV
Germline

Chr8:143935915

Pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Single Submitter

CA372588697

rs_2539091124

1 SubmittersRCV003111796

NM_013382.7(POMT2):c.1243G>T (p.Glu415Ter)

SNV
Germline

Chr14:77288772

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390518206

rs_1280088838

1 SubmittersRCV003118851

NM_001267550.2(TTN):c.49345+1G>T

SNV
Germline

Chr2:178614051

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349605147

rs_2056846558

1 SubmittersRCV003116055

NM_001267550.2(TTN):c.83232T>A (p.Tyr27744Ter)

SNV
Germline

Chr2:178562900

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349568753

rs_1024522369

1 SubmittersRCV003107216

NM_001267550.2(TTN):c.41253C>A (p.Ser13751=)

SNV
Germline

Chr2:178636474

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1996298

rs_772643931

2 SubmittersRCV003120090 RCV004245967

NM_001267550.2(TTN):c.21788G>A (p.Trp7263Ter)

SNV
Germline

Chr2:178723219

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA60973865

rs_954173429

2 SubmittersRCV002580344 RCV004719263

NM_001267550.2(TTN):c.79639C>T (p.Arg26547Ter)

SNV
Germline

Chr2:178566493

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349594513

rs_2154165620

2 SubmittersRCV002577725 RCV003314739

NM_017739.4(POMGNT1):c.751+2T>G

SNV
Germline

Chr1:46194551

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340183654

rs_1658064113

1 SubmittersRCV002584017

NM_017739.4(POMGNT1):c.1411A>T (p.Lys471Ter)

SNV
Germline

Chr1:46192310

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA21912515

rs_1038334168

1 SubmittersRCV002630262

NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)

SNV
Germline

Chr19:46756384

Conflicting classifications of pathogenicity

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA406496314

rs_2054923228

4 SubmittersRCV002593065 RCV003224635 RCV004801225 RCV005842006

NM_021971.4(GMPPB):c.862C>T (p.Arg288Trp)

SNV
Germline

Chr3:49722054

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

CA352827258

rs_1230808770

2 SubmittersRCV002604254 RCV003134458

NM_201384.3(PLEC):c.11931C>T (p.Ile3977=)

SNV
Germline

Chr8:143917890

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA187607305

rs_373262743

2 SubmittersRCV002593792 RCV005635565

NM_001267550.2(TTN):c.44869G>T (p.Glu14957Ter)

SNV
Germline

Chr2:178622714

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349638795

rs_1265322006

1 SubmittersRCV002601330

NM_001267550.2(TTN):c.80801C>G (p.Ser26934Ter)

SNV
Germline

Chr2:178565331

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349586011

rs_2468243373

1 SubmittersRCV002590450

NM_001267550.2(TTN):c.7275C>G (p.Tyr2425Ter)

SNV
Germline

Chr2:178773893

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349680638

rs_2091883095

1 SubmittersRCV002649608

NM_001267550.2(TTN):c.96838C>T (p.Gln32280Ter)

SNV
Germline

Chr2:178543135

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349445115

rs_2468921958

2 SubmittersRCV002635273 RCV003225240

NM_024301.5(FKRP):c.692G>A (p.Trp231Ter)

SNV
Germline

Chr19:46756142

Pathogenic

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Multiple Submitters
No Conflicts

CA406495818

rs_2513991038

2 SubmittersRCV002635425 RCV005019295

NM_001267550.2(TTN):c.94067G>A (p.Trp31356Ter)

SNV
Germline

Chr2:178547559

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349478227

rs_2469098814

1 SubmittersRCV002649559

NM_001267550.2(TTN):c.64672+2T>A

SNV
Germline

Chr2:178585070

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349438512

rs_2154180290

1 SubmittersRCV002622589

NM_001267550.2(TTN):c.102813A>G (p.Val34271=)

SNV
Germline

Chr2:178533802

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60958930

rs_878983012

3 SubmittersRCV002626813 RCV004545358 RCV005635576

NM_001267550.2(TTN):c.584-1G>T

SNV
Germline

Chr2:178799911

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA2006279

rs_764795457

2 SubmittersRCV002649745 RCV003150574

NM_001267550.2(TTN):c.6061C>T (p.Arg2021Ter)

SNV
Germline

Chr2:178775803

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349444230

rs_2092153679

2 SubmittersRCV002650314 RCV004681520

NM_001267550.2(TTN):c.427G>T (p.Glu143Ter)

SNV
Germline

Chr2:178800551

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349528015

rs_754182768

1 SubmittersRCV002654038

NM_001267550.2(TTN):c.29193G>A (p.Trp9731Ter)

SNV
Germline

Chr2:178706681

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349584108

rs_2075920978

2 SubmittersRCV002653247 RCV003138321

NM_201384.3(PLEC):c.9586C>T (p.Gln3196Ter)

SNV
Germline

Chr8:143920235

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

CA372507864

rs_1554681111

1 SubmittersRCV002642828

NM_213599.3(ANO5):c.774G>A (p.Trp258Ter)

SNV
Germline

Chr11:22239580

Pathogenic/Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA218744001

rs_868734578

2 SubmittersRCV002705861 RCV003134481

NM_013382.7(POMT2):c.1891+1G>C

SNV
Germline

Chr14:77279822

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390514404

rs_1455013590

1 SubmittersRCV002706450

NM_001267550.2(TTN):c.13911G>A (p.Trp4637Ter)

SNV
Germline

Chr2:178739322

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349605786

rs_2530598405

1 SubmittersRCV002715514

NM_001267550.2(TTN):c.33247+2T>A

SNV
Germline

Chr2:178681374

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60983907

rs_878883920

1 SubmittersRCV002734879

NM_001267550.2(TTN):c.64516G>T (p.Glu21506Ter)

SNV
Germline

Chr2:178585228

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349439275

rs_2469176105

1 SubmittersRCV002714980

NM_213599.3(ANO5):c.138+9C>T

SNV
Germline

Chr11:22211323

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5922791

rs_535319996

2 SubmittersRCV002725308 RCV003138335

NM_000023.4(SGCA):c.218C>G (p.Pro73Arg)

SNV
Germline

Chr17:50167642

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400177449

rs_1482631076

1 SubmittersRCV002727063

NM_001267550.2(TTN):c.40787-2A>G

SNV
Germline

Chr2:178639790

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349662618

rs_2471754892

1 SubmittersRCV002760157

NM_000337.6(SGCD):c.90G>A (p.Trp30Ter)

SNV
Germline

Chr5:156344575

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Single Submitter

CA362007673

rs_2481653253

1 SubmittersRCV002750750

NM_001267550.2(TTN):c.13329C>G (p.Tyr4443Ter)

SNV
Germline

Chr2:178739904

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349608429

rs_2082191056

1 SubmittersRCV002736721

NM_001079802.2(FKTN):c.164G>A (p.Trp55Ter)

SNV
Germline

Chr9:105596656

Pathogenic/Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Autosomal recessive limb-girdle muscular dystrophy type 2M

Criteria Provided
Multiple Submitters
No Conflicts

CA374331145

rs_1826858068

2 SubmittersRCV002735392 RCV005050630

NM_001267550.2(TTN):c.14484G>A (p.Trp4828Ter)

SNV
Germline

Chr2:178735962

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349599580

rs_2530379124

1 SubmittersRCV002730659

NM_001267550.2(TTN):c.1398+1G>A

SNV
Germline

Chr2:178794398

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349515166

rs_2534047310

1 SubmittersRCV002746703

NM_001267550.2(TTN):c.23939-1G>T

SNV
Germline

Chr2:178719452

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349503793

rs_2529297088

1 SubmittersRCV002761176

NM_001267550.2(TTN):c.105486G>A (p.Trp35162Ter)

SNV
Germline

Chr2:178531129

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349408676

rs_1201789108

1 SubmittersRCV002740519

NM_001267550.2(TTN):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr2:178804633

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349534004

rs_2534633050

1 SubmittersRCV002735354

NM_013382.7(POMT2):c.1130T>A (p.Leu377Ter)

SNV
Germline

Chr14:77291367

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390518954

rs_2503227296

1 SubmittersRCV002717359

NM_000337.6(SGCD):c.4-1G>C

SNV
Germline

Chr5:156344488

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Single Submitter

CA362007488

rs_1554094927

1 SubmittersRCV002750096

NM_001267550.2(TTN):c.36044-2A>C

SNV
Germline

Chr2:178664928

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA60975024

rs_939633955

1 SubmittersRCV002795089

NM_017739.4(POMGNT1):c.1343G>A (p.Gly448Glu)

SNV
Germline

Chr1:46192378

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340175384

rs_1226108463

1 SubmittersRCV002756817

NM_001267550.2(TTN):c.23204G>A (p.Trp7735Ter)

SNV
Germline

Chr2:178720558

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA60972179

rs_1031182598

3 SubmittersRCV005772413 RCV006255449 RCV002795776

NM_001130987.2(DYSF):c.5420G>C (p.Arg1807Pro)

SNV
Germline

Chr2:71667478

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347221413

rs_148860301

2 SubmittersRCV002790734 RCV005027968

NM_001267550.2(TTN):c.25064-1G>A

SNV
Germline

Chr2:178717811

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349489913

rs_1418641045

1 SubmittersRCV002765901

NM_013382.7(POMT2):c.656+1G>A

SNV
Germline

Chr14:77302834

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390520419

rs_2503285522

1 SubmittersRCV002766755

NM_001267550.2(TTN):c.9450A>T (p.Arg3150=)

SNV
Germline

Chr2:178767780

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2004334

rs_558077210

3 SubmittersRCV002766808 RCV003138349 RCV006357565

NM_001267550.2(TTN):c.33580+2T>C

SNV
Germline

Chr2:178679892

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349536866

rs_2068947331

1 SubmittersRCV002795071

NM_213599.3(ANO5):c.2741A>G (p.Ter914=)

SNV
Germline

Chr11:22279764

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5923658

rs_187595147

2 SubmittersRCV002780158 RCV003482421

NM_001267550.2(TTN):c.45083-1G>A

SNV
Germline

Chr2:178621742

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349636139

rs_1478618005

2 SubmittersRCV005433260 RCV002770427

NM_001267550.2(TTN):c.47414G>A (p.Trp15805Ter)

SNV
Germline

Chr2:178617937

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349617180

rs_2470877798

1 SubmittersRCV002775954

NM_001267550.2(TTN):c.36280+1G>T

SNV
Germline

Chr2:178664459

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA1997588

rs_768200802

1 SubmittersRCV002796539

NM_001267550.2(TTN):c.107617G>T (p.Gly35873Ter)

SNV
Germline

Chr2:178527509

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349399928

rs_746548465

1 SubmittersRCV002814899

NM_001267550.2(TTN):c.52604T>G (p.Leu17535Ter)

SNV
Germline

Chr2:178608279

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349572593

rs_2470328795

1 SubmittersRCV002828070

NM_001267550.2(TTN):c.73148C>A (p.Ser24383Ter)

SNV
Germline

Chr2:178572984

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349643663

rs_368415251

1 SubmittersRCV002819822

NM_213599.3(ANO5):c.295-2A>G

SNV
Germline

Chr11:22225982

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5922879

rs_758847803

2 SubmittersRCV002819827 RCV003491153

NM_001267550.2(TTN):c.71244G>A (p.Trp23748Ter)

SNV
Germline

Chr2:178574888

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349658657

rs_2468651285

1 SubmittersRCV002797303

NM_001267550.2(TTN):c.70133G>A (p.Trp23378Ter)

SNV
Germline

Chr2:178575999

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349664755

rs_1172742481

2 SubmittersRCV002815539 RCV005505504

NM_001267550.2(TTN):c.8067T>A (p.Tyr2689Ter)

SNV
Germline

Chr2:178771260

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349678362

rs_772918817

1 SubmittersRCV002820717

NM_001267550.2(TTN):c.35125A>T (p.Arg11709Ter)

SNV
Germline

Chr2:178672073

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349517411

rs_371165076

1 SubmittersRCV002820879

NM_001267550.2(TTN):c.22528G>T (p.Glu7510Ter)

SNV
Germline

Chr2:178722259

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349525060

rs_2529480434

1 SubmittersRCV002810879

NM_001267550.2(TTN):c.45724A>T (p.Arg15242Ter)

SNV
Germline

Chr2:178620886

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349632261

rs_373778707

2 SubmittersRCV002825002 RCV003994462

NM_001267550.2(TTN):c.26800G>T (p.Glu8934Ter)

SNV
Germline

Chr2:178713334

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349461982

rs_2076941615

1 SubmittersRCV002825009

NM_001267550.2(TTN):c.107223+2T>C

SNV
Germline

Chr2:178528526

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349401549

rs_1687571331

1 SubmittersRCV002816310

NM_001267550.2(TTN):c.93772G>T (p.Glu31258Ter)

SNV
Germline

Chr2:178547854

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349481035

rs_994627256

1 SubmittersRCV002806470

NM_001077365.2(POMT1):c.1061G>A (p.Trp354Ter)

SNV
Germline

Chr9:131512115

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Single Submitter

CA375308913

rs_1947244829

1 SubmittersRCV002791664

NM_001077365.2(POMT1):c.529C>T (p.Gln177Ter)

SNV
Germline

Chr9:131509012

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Single Submitter

CA375307086

rs_746247204

1 SubmittersRCV002815003

NM_001077365.2(POMT1):c.2141G>A (p.Trp714Ter)

SNV
Germline

Chr9:131523069

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Single Submitter

CA375315388

rs_2539514312

1 SubmittersRCV002815007

NM_032237.5(POMK):c.280A>T (p.Arg94Ter)

SNV
Germline

Chr8:43103828

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Limb-girdle muscular dystrophy due to POMK deficiency

Criteria Provided
Single Submitter

CA371117907

rs_2486756300

1 SubmittersRCV002824763

NM_001267550.2(TTN):c.49648+1G>A

SNV
Germline

Chr2:178613160

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349601710

rs_2056668331

1 SubmittersRCV002815935

NM_001267550.2(TTN):c.87505C>T (p.Gln29169Ter)

SNV
Germline

Chr2:178557849

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349535972

rs_2469547573

1 SubmittersRCV002838100

NM_001267550.2(TTN):c.69379C>T (p.Gln23127Ter)

SNV
Germline

Chr2:178576956

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349668843

rs_953796748

3 SubmittersRCV002834322 RCV003150577 RCV004697238

NM_001267550.2(TTN):c.93288T>A (p.Tyr31096Ter)

SNV
Germline

Chr2:178548338

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349486451

rs_1280272876

2 SubmittersRCV002829789 RCV005405939

NM_001267550.2(TTN):c.103678A>T (p.Lys34560Ter)

SNV
Germline

Chr2:178532937

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349413753

rs_2468471502

1 SubmittersRCV002829813

NM_001267550.2(TTN):c.94032C>A (p.Tyr31344Ter)

SNV
Germline

Chr2:178547594

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349478520

rs_2469100063

1 SubmittersRCV002861336

NM_021971.4(GMPPB):c.65C>T (p.Pro22Leu)

SNV
Germline

Chr3:49723662

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

CA352831687

rs_1204528532

1 SubmittersRCV002856752

NM_001267550.2(TTN):c.10115-2A>G

SNV
Germline

Chr2:178759174

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349673685

rs_2531940831

1 SubmittersRCV002835285

NM_001267550.2(TTN):c.61012G>T (p.Gly20338Ter)

SNV
Germline

Chr2:178590713

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349477370

rs_2050024015

1 SubmittersRCV002856994

NM_001267550.2(TTN):c.59158C>T (p.Gln19720Ter)

SNV
Germline

Chr2:178592961

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349495612

rs_2469555232

1 SubmittersRCV002811969

NM_001267550.2(TTN):c.12891C>A (p.Cys4297Ter)

SNV
Germline

Chr2:178740342

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349609994

rs_2530655080

1 SubmittersRCV002811970

NM_001267550.2(TTN):c.46237C>T (p.Gln15413Ter)

SNV
Germline

Chr2:178620284

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349628436

rs_2470995867

1 SubmittersRCV002838666

NM_001267550.2(TTN):c.103489C>T (p.Gln34497Ter)

SNV
Germline

Chr2:178533126

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349414168

rs_2468480145

1 SubmittersRCV002838668

NM_001077365.2(POMT1):c.987-2A>G

SNV
Germline

Chr9:131512039

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA375308734

rs_1453773610

1 SubmittersRCV002846242

NM_017739.4(POMGNT1):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:46197821

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340193553

rs_1658367194

1 SubmittersRCV002846431

NM_001267550.2(TTN):c.39313G>T (p.Glu13105Ter)

SNV
Germline

Chr2:178651950

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349458461

rs_761027873

1 SubmittersRCV002856663

NM_001267550.2(TTN):c.56584C>T (p.Gln18862Ter)

SNV
Germline

Chr2:178599209

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349529042

rs_2469883983

1 SubmittersRCV002846763

NM_001267550.2(TTN):c.55885G>T (p.Glu18629Ter)

SNV
Germline

Chr2:178601019

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349536912

rs_2053286212

1 SubmittersRCV002833486

NM_017739.4(POMGNT1):c.33G>A (p.Lys11=)

SNV
Germline

Chr1:46197789

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA417720764

rs_2525476571

2 SubmittersRCV002851250 RCV003889169

NM_001130987.2(DYSF):c.5086G>A (p.Glu1696Lys)

SNV
Germline

Chr2:71664350

Conflicting classifications of pathogenicity

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1707238

rs_368142107

3 SubmittersRCV002829424 RCV005027982 RCV004719272

NM_000231.3(SGCG):c.385+1G>A

SNV
Germline

Chr13:23250718

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA387501696

rs_2541936716

3 SubmittersRCV002834929

NM_001267550.2(TTN):c.94581G>A (p.Trp31527Ter)

SNV
Germline

Chr2:178546847

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349472401

rs_2469068787

1 SubmittersRCV002870849

NM_001267550.2(TTN):c.54514A>T (p.Lys18172Ter)

SNV
Germline

Chr2:178604173

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349551963

rs_2470121680

2 SubmittersRCV002851153 RCV003988029

NM_001267550.2(TTN):c.57345T>A (p.Tyr19115Ter)

SNV
Germline

Chr2:178597737

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349521385

rs_879000172

1 SubmittersRCV002843502

NM_001267550.2(TTN):c.31679-1G>A

SNV
Germline

Chr2:178692100

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349559334

rs_2474507585

1 SubmittersRCV002843860

NM_001267550.2(TTN):c.14307G>A (p.Glu4769=)

SNV
Germline

Chr2:178738146

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2002434

rs_773445915

2 SubmittersRCV002857015 RCV003138368

NM_213599.3(ANO5):c.1180+1G>C

SNV
Germline

Chr11:22251012

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

CA379921335

rs_2494261439

1 SubmittersRCV002857138

NM_001267550.2(TTN):c.46304+1G>T

SNV
Germline

Chr2:178620216

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349627772

rs_2470992924

1 SubmittersRCV002857556

NM_001267550.2(TTN):c.81805G>T (p.Glu27269Ter)

SNV
Germline

Chr2:178564327

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349577740

rs_2468202435

1 SubmittersRCV002866178

NM_001267550.2(TTN):c.45667C>T (p.Gln15223Ter)

SNV
Germline

Chr2:178620943

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349632734

rs_2471023807

1 SubmittersRCV002857573

NM_001267550.2(TTN):c.67655T>G (p.Leu22552Ter)

SNV
Germline

Chr2:178579375

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349423269

rs_2468877626

1 SubmittersRCV002852723

NM_000337.6(SGCD):c.502+2T>C

SNV
Germline

Chr5:156595053

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Single Submitter

CA362010874

rs_2480248711

1 SubmittersRCV002863298

NM_001267550.2(TTN):c.66306G>A (p.Trp22102Ter)

SNV
Germline

Chr2:178582063

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349429419

rs_2469011763

1 SubmittersRCV002863372

NM_001267550.2(TTN):c.79602G>A (p.Trp26534Ter)

SNV
Germline

Chr2:178566530

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349594586

rs_2468289077

1 SubmittersRCV002889588

NM_001267550.2(TTN):c.62408G>A (p.Trp20803Ter)

SNV
Germline

Chr2:178589317

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349464901

rs_2469387281

1 SubmittersRCV002894209

NM_017739.4(POMGNT1):c.236-1G>C

SNV
Germline

Chr1:46196850

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340191776

rs_1057516477

1 SubmittersRCV002872172

NM_000070.3(CAPN3):c.3G>T (p.Met1Ile)

SNV
Germline

Chr15:42359808

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391993760

rs_2548224423

1 SubmittersRCV002881476

NM_001267550.2(TTN):c.70917T>A (p.Tyr23639Ter)

SNV
Germline

Chr2:178575215

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349660201

rs_2468665074

1 SubmittersRCV002881500

NM_001267550.2(TTN):c.44584C>T (p.Gln14862Ter)

SNV
Germline

Chr2:178624696

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349641146

rs_2471169863

1 SubmittersRCV002857450

NM_001267550.2(TTN):c.9472-1G>T

SNV
Germline

Chr2:178766613

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349675090

rs_2090472968

2 SubmittersRCV002847711 RCV003481339

NM_001267550.2(TTN):c.55927C>T (p.Gln18643Ter)

SNV
Germline

Chr2:178600977

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349536555

rs_2469979316

1 SubmittersRCV002852458

NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)

SNV
Germline

Chr13:23234675

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA387506615

rs_2541900264

2 SubmittersRCV002853211

NM_001267550.2(TTN):c.73646C>G (p.Ser24549Ter)

SNV
Germline

Chr2:178572486

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349637865

rs_2468538445

1 SubmittersRCV002853282

NM_001267550.2(TTN):c.45431C>A (p.Ser15144Ter)

SNV
Germline

Chr2:178621287

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349634546

rs_2058229729

1 SubmittersRCV002853394

NM_001267550.2(TTN):c.15496G>T (p.Glu5166Ter)

SNV
Germline

Chr2:178734328

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349593683

rs_979660876

1 SubmittersRCV002858632

NM_001267550.2(TTN):c.66637C>T (p.Gln22213Ter)

SNV
Germline

Chr2:178581631

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349428623

rs_1479561157

1 SubmittersRCV002876358

NM_001267550.2(TTN):c.50692A>T (p.Lys16898Ter)

SNV
Germline

Chr2:178611537

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349593502

rs_976705857

1 SubmittersRCV002876410

NM_001267550.2(TTN):c.29440G>T (p.Gly9814Ter)

SNV
Germline

Chr2:178705338

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349580679

rs_1366790953

1 SubmittersRCV002872083

NM_000070.3(CAPN3):c.801+2T>G

SNV
Germline

Chr15:42389098

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391998419

rs_2548260668

1 SubmittersRCV002852310

NM_001267550.2(TTN):c.42181A>T (p.Lys14061Ter)

SNV
Germline

Chr2:178634600

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349655593

rs_2471552523

1 SubmittersRCV002852381

NM_001267550.2(TTN):c.86392A>T (p.Arg28798Ter)

SNV
Germline

Chr2:178559740

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349544093

rs_748375797

1 SubmittersRCV002875840

NM_001267550.2(TTN):c.9325A>T (p.Lys3109Ter)

SNV
Germline

Chr2:178767905

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349675396

rs_2532343902

1 SubmittersRCV002857964

NM_001267550.2(TTN):c.94418T>A (p.Leu31473Ter)

SNV
Germline

Chr2:178547107

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349474159

rs_2469080679

1 SubmittersRCV002858091

NM_001267550.2(TTN):c.7906G>T (p.Glu2636Ter)

SNV
Germline

Chr2:178771421

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349678714

rs_2532559338

1 SubmittersRCV002848137

NM_001267550.2(TTN):c.48110T>A (p.Leu16037Ter)

SNV
Germline

Chr2:178616779

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349612063

rs_2470818553

1 SubmittersRCV002848200

NM_017739.4(POMGNT1):c.1465G>T (p.Glu489Ter)

SNV
Germline

Chr1:46192172

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340173739

rs_2148184028

1 SubmittersRCV002848232

NM_001267550.2(TTN):c.100594C>T (p.Gln33532Ter)

SNV
Germline

Chr2:178536153

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349425333

rs_1691405349

1 SubmittersRCV002853018

NM_001267550.2(TTN):c.97637G>A (p.Trp32546Ter)

SNV
Germline

Chr2:178541440

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349437089

rs_2468846612

1 SubmittersRCV002871687

NM_000070.3(CAPN3):c.945+1G>A

SNV
Germline

Chr15:42390097

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391998726

rs_1375420170

1 SubmittersRCV002876265

NM_001267550.2(TTN):c.669+2T>C

SNV
Germline

Chr2:178799823

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349524621

rs_2534322136

2 SubmittersRCV002848376 RCV006605385

NM_001267550.2(TTN):c.56715G>A (p.Trp18905Ter)

SNV
Germline

Chr2:178598995

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349527662

rs_2469872185

1 SubmittersRCV002898592

NM_001267550.2(TTN):c.78110G>A (p.Trp26037Ter)

SNV
Germline

Chr2:178568022

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA60991660

rs_752009181

2 SubmittersRCV002898949 RCV003485795

NM_001267550.2(TTN):c.60918C>G (p.Tyr20306Ter)

SNV
Germline

Chr2:178590807

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349478465

rs_2469451911

1 SubmittersRCV002876627

NM_001267550.2(TTN):c.58260G>A (p.Trp19420Ter)

SNV
Germline

Chr2:178594133

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349507890

rs_2469616125

1 SubmittersRCV002876751

NM_001267550.2(TTN):c.95848G>T (p.Glu31950Ter)

SNV
Germline

Chr2:178544381

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349456843

rs_727505199

2 SubmittersRCV002876843 RCV005772420

NM_021942.6(TRAPPC11):c.2852-1G>T

SNV
Germline

Chr4:183701696

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

CA358873726

rs_2476948265

1 SubmittersRCV002851950

NM_001267550.2(TTN):c.64033G>T (p.Glu21345Ter)

SNV
Germline

Chr2:178587178

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349446396

rs_776495338

1 SubmittersRCV002862581

NM_001267550.2(TTN):c.77605G>T (p.Gly25869Ter)

SNV
Germline

Chr2:178568527

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349605985

rs_2468367066

1 SubmittersRCV002848038

NM_001267550.2(TTN):c.101704G>T (p.Glu33902Ter)

SNV
Germline

Chr2:178534911

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349419837

rs_762592218

1 SubmittersRCV002848073

NM_001267550.2(TTN):c.6509-1G>T

SNV
Germline

Chr2:178775203

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349682666

rs_2532794126

1 SubmittersRCV002848082

NM_001267550.2(TTN):c.101129G>A (p.Trp33710Ter)

SNV
Germline

Chr2:178535486

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349421618

rs_2468576682

2 SubmittersRCV002858406 RCV004990888

NM_001267550.2(TTN):c.30223+1G>T

SNV
Germline

Chr2:178704146

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349574107

rs_556408709

1 SubmittersRCV002893849

NM_001267550.2(TTN):c.36364+2T>A

SNV
Germline

Chr2:178664013

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349498829

rs_2472946351

1 SubmittersRCV002881951

NM_001267550.2(TTN):c.102926T>C (p.Phe34309Ser)

SNV
Germline

Chr2:178533689

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA1985684

rs_776393529

2 SubmittersRCV002890391 RCV005405941

NM_017739.4(POMGNT1):c.931C>G (p.Arg311Gly)

SNV
Germline

Chr1:46193874

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340181518

rs_386834039

1 SubmittersRCV002867802

NM_001267550.2(TTN):c.56401C>T (p.Gln18801Ter)

SNV
Germline

Chr2:178599392

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349532395

rs_2052670569

2 SubmittersRCV002867841 RCV005288834

NM_001267550.2(TTN):c.65792C>G (p.Ser21931Ter)

SNV
Germline

Chr2:178583011

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349432644

rs_2469062184

1 SubmittersRCV002894447

NM_001267550.2(TTN):c.29599A>T (p.Arg9867Ter)

SNV
Germline

Chr2:178705179

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349580118

rs_2475275700

1 SubmittersRCV002894731

NM_001267550.2(TTN):c.97358C>G (p.Ser32453Ter)

SNV
Germline

Chr2:178542398

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349440176

rs_2468889333

1 SubmittersRCV002899909

NM_021942.6(TRAPPC11):c.886C>T (p.Arg296Ter)

SNV
Germline

Chr4:183679407

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

CA3151735

rs_374498633

1 SubmittersRCV002902895

NM_001267550.2(TTN):c.51871G>T (p.Glu17291Ter)

SNV
Germline

Chr2:178609439

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349579594

rs_2470388671

1 SubmittersRCV002895668

NM_001267550.2(TTN):c.3553C>T (p.Gln1185Ter)

SNV
Germline

Chr2:178780176

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349482878

rs_2533172691

1 SubmittersRCV002903785

NM_001267550.2(TTN):c.73619G>A (p.Trp24540Ter)

SNV
Germline

Chr2:178572513

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349638051

rs_2468539882

1 SubmittersRCV002903788

NM_001267550.2(TTN):c.75895A>T (p.Lys25299Ter)

SNV
Germline

Chr2:178570237

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349619188

rs_2468442117

1 SubmittersRCV002900341

NM_001267550.2(TTN):c.42281C>G (p.Ser14094Ter)

SNV
Germline

Chr2:178634500

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349655239

rs_2471549126

1 SubmittersRCV002890078

NM_001267550.2(TTN):c.61675C>T (p.Gln20559Ter)

SNV
Germline

Chr2:178590050

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349470275

rs_2469419056

1 SubmittersRCV002882114

NM_001267550.2(TTN):c.36203-1G>T

SNV
Germline

Chr2:178664538

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349500511

rs_2472996488

1 SubmittersRCV002895301

NM_001267550.2(TTN):c.80997T>A (p.Tyr26999Ter)

SNV
Germline

Chr2:178565135

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349584593

rs_753036492

1 SubmittersRCV002909015

NM_001267550.2(TTN):c.56999G>A (p.Trp19000Ter)

SNV
Germline

Chr2:178598618

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349524514

rs_2469851258

1 SubmittersRCV002877301

NM_001267550.2(TTN):c.46939G>T (p.Glu15647Ter)

SNV
Germline

Chr2:178618611

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349621301

rs_2470909796

1 SubmittersRCV002899358

NM_001267550.2(TTN):c.54812-1G>C

SNV
Germline

Chr2:178602591

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349547319

rs_1416873295

1 SubmittersRCV002882063

NM_213599.3(ANO5):c.1965G>A (p.Trp655Ter)

SNV
Germline

Chr11:22270378

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379923362

rs_760137559

2 SubmittersRCV002913356 RCV004790271

NM_001267550.2(TTN):c.24244C>T (p.Gln8082Ter)

SNV
Germline

Chr2:178718956

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349500275

rs_2529278072

1 SubmittersRCV002909281

NM_001267550.2(TTN):c.14212C>T (p.Arg4738Ter)

SNV
Germline

Chr2:178738241

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349602586

rs_1311308523

1 SubmittersRCV002937525

NM_001267550.2(TTN):c.107456A>G (p.Gln35819Arg)

SNV
Germline

Chr2:178527670

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349400878

rs_1457427060

3 SubmittersRCV002904901 RCV003482426 RCV005405945

NM_021942.6(TRAPPC11):c.1348C>T (p.Arg450Ter)

SNV
Germline

Chr4:183684205

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Multiple Submitters
No Conflicts

CA3151887

rs_770361045

2 SubmittersRCV002933253

NM_201384.3(PLEC):c.7976A>G (p.Gln2659Arg)

SNV
Germline

Chr8:143921845

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4925464

rs_781927659

2 SubmittersRCV002933358 RCV003134545

NM_001267550.2(TTN):c.104012T>G (p.Leu34671Ter)

SNV
Germline

Chr2:178532603

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349412748

rs_2468458755

1 SubmittersRCV002915004

NM_201384.3(PLEC):c.8455G>A (p.Val2819Met)

SNV
Germline

Chr8:143921366

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925303

rs_782271365

3 SubmittersRCV002909362 RCV003134537 RCV004958825

NM_021971.4(GMPPB):c.506A>G (p.Asn169Ser)

SNV
Germline

Chr3:49722651

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2405539

rs_534685803

2 SubmittersRCV002952773 RCV003134552

NM_013382.7(POMT2):c.654C>T (p.Asp218=)

SNV
Germline

Chr14:77302837

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Condition: not provided

Criteria Provided
Conflicting Classifications

CA487325340

rs_2503285557

2 SubmittersRCV002953259 RCV004999839

NM_001267550.2(TTN):c.75865G>T (p.Glu25289Ter)

SNV
Germline

Chr2:178570267

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349619377

rs_2468443511

1 SubmittersRCV002971167

NM_000023.4(SGCA):c.296G>A (p.Gly99Glu)

SNV
Germline

Chr17:50167720

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400177927

rs_2509119198

1 SubmittersRCV002972132

NM_001267550.2(TTN):c.44154+1G>C

SNV
Germline

Chr2:178630803

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349645850

rs_2471401026

1 SubmittersRCV002952894

NM_001267550.2(TTN):c.66361C>T (p.Gln22121Ter)

SNV
Germline

Chr2:178582008

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349429303

rs_2469009764

1 SubmittersRCV002943778

NM_001267550.2(TTN):c.17461+1G>A

SNV
Germline

Chr2:178731304

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Autosomal recessive titinopathy

Criteria Provided
Conflicting Classifications

CA349572713

rs_747990127

3 SubmittersRCV002954419 RCV003138414 RCV005433289

NM_013382.7(POMT2):c.1654-2A>T

SNV
Germline

Chr14:77280465

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390515676

rs_2503171526

1 SubmittersRCV002944078

NM_017739.4(POMGNT1):c.1468T>G (p.Cys490Gly)

SNV
Germline

Chr1:46192169

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340173683

rs_1657824312

1 SubmittersRCV002970689

NM_001267550.2(TTN):c.21014T>G (p.Leu7005Ter)

SNV
Germline

Chr2:178724361

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349539068

rs_2529622298

1 SubmittersRCV002962175

NM_001267550.2(TTN):c.32096-1G>T

SNV
Germline

Chr2:178688779

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349553770

rs_2071539166

1 SubmittersRCV002949589

NM_001267550.2(TTN):c.39727G>T (p.Glu13243Ter)

SNV
Germline

Chr2:178650254

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349450440

rs_1203876644

1 SubmittersRCV002963309

NM_001267550.2(TTN):c.99583C>T (p.Gln33195Ter)

SNV
Germline

Chr2:178537624

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349427910

rs_2468678573

1 SubmittersRCV002988762

NM_015602.4(TOR1AIP1):c.838+2T>A

SNV
Germline

Chr1:179907866

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Single Submitter

CA1268970

rs_771280075

1 SubmittersRCV003002775

NM_001267550.2(TTN):c.1252C>T (p.Gln418Ter)

SNV
Germline

Chr2:178794545

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349516823

rs_1290100739

1 SubmittersRCV002972316

NM_001267550.2(TTN):c.35546-7T>C

SNV
Germline

Chr2:178667728

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1997789

rs_373819091

3 SubmittersRCV002993754 RCV005433947 RCV006451305

NM_017739.4(POMGNT1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr1:46197819

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA833900

rs_774349262

1 SubmittersRCV002995547

NM_001267550.2(TTN):c.57115A>T (p.Lys19039Ter)

SNV
Germline

Chr2:178598055

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349523320

rs_2469819993

1 SubmittersRCV003007662

NM_001267550.2(TTN):c.77546C>G (p.Ser25849Ter)

SNV
Germline

Chr2:178568586

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349610034

rs_2468369853

1 SubmittersRCV002972205

NM_001267550.2(TTN):c.53354G>A (p.Trp17785Ter)

SNV
Germline

Chr2:178607248

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349564879

rs_2470280552

2 SubmittersRCV002999587 RCV006281130

NM_013382.7(POMT2):c.1484+1G>A

SNV
Germline

Chr14:77285480

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390517246

rs_727502857

1 SubmittersRCV003007507

NM_000070.3(CAPN3):c.1903C>T (p.Gln635Ter)

SNV
Germline

Chr15:42408313

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA392000886

rs_768437317

3 SubmittersRCV003016212 RCV003459697 RCV005636678

NM_001267550.2(TTN):c.5884C>T (p.Gln1962Ter)

SNV
Germline

Chr2:178775980

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349445877

rs_773951165

2 SubmittersRCV003030813 RCV004764988

NM_001130987.2(DYSF):c.6173+1G>A

SNV
Germline

Chr2:71681111

Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347226922

rs_1293857367

3 SubmittersRCV003021279 RCV003459695 RCV004813212

NM_001267550.2(TTN):c.93153T>G (p.Tyr31051Ter)

SNV
Germline

Chr2:178548473

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349487471

rs_2469129125

1 SubmittersRCV003018888

NM_000070.3(CAPN3):c.379+1G>A

SNV
Germline

Chr15:42384553

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391997453

rs_2548252825

1 SubmittersRCV003005848

NM_001267550.2(TTN):c.87624C>G (p.Tyr29208Ter)

SNV
Germline

Chr2:178557730

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349535169

rs_772121356

1 SubmittersRCV003018775

NM_001267550.2(TTN):c.25765G>T (p.Glu8589Ter)

SNV
Germline

Chr2:178715649

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349479362

rs_2529117612

1 SubmittersRCV003021038

NM_201384.3(PLEC):c.1738-2A>C

SNV
Germline

Chr8:143932714

Likely pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

CA372579105

rs_2538833403

1 SubmittersRCV003008528

NM_000070.3(CAPN3):c.380-2A>G

SNV
Germline

Chr15:42386165

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391997457

rs_2548255667

1 SubmittersRCV003019323

NM_000070.3(CAPN3):c.380-1G>A

SNV
Germline

Chr15:42386166

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391997459

rs_2548255670

1 SubmittersRCV003031151

NM_001267550.2(TTN):c.100342C>T (p.Arg33448Ter)

SNV
Germline

Chr2:178536405

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349426231

rs_1168878579

3 SubmittersRCV003021527 RCV005301219 RCV006262593

NM_001267550.2(TTN):c.87340A>T (p.Arg29114Ter)

SNV
Germline

Chr2:178558014

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349537119

rs_2469553543

1 SubmittersRCV003033553

NM_001267550.2(TTN):c.99181G>T (p.Gly33061Ter)

SNV
Germline

Chr2:178538648

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349430772

rs_2154139241

1 SubmittersRCV003014566

NM_001267550.2(TTN):c.64890C>A (p.Tyr21630Ter)

SNV
Germline

Chr2:178584751

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349436429

rs_2048560568

1 SubmittersRCV003003240

NM_001267550.2(TTN):c.43319G>A (p.Trp14440Ter)

SNV
Germline

Chr2:178632687

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1995895

rs_372663057

2 SubmittersRCV003005748 RCV004990961

NM_001267550.2(TTN):c.24227-2A>G

SNV
Germline

Chr2:178718975

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA2000465

rs_373060681

1 SubmittersRCV003020697

NM_001267550.2(TTN):c.57069C>G (p.Tyr19023Ter)

SNV
Germline

Chr2:178598548

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349523842

rs_1490929702

1 SubmittersRCV003013746

NM_001267550.2(TTN):c.6332G>A (p.Trp2111Ter)

SNV
Germline

Chr2:178775532

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349440841

rs_2092127553

1 SubmittersRCV003030935

NM_001267550.2(TTN):c.85493G>A (p.Trp28498Ter)

SNV
Germline

Chr2:178560639

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA60984655

rs_756499458

2 SubmittersRCV004764989 RCV003033395

NM_021942.6(TRAPPC11):c.1366+1G>A

SNV
Germline

Chr4:183684224

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Multiple Submitters
No Conflicts

CA358866709

rs_1377315723

2 SubmittersRCV003019843

NM_001267550.2(TTN):c.2557C>T (p.Gln853Ter)

SNV
Germline

Chr2:178784288

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349496805

rs_1234178280

1 SubmittersRCV003028801

NM_001267550.2(TTN):c.8532A>C (p.Ser2844=)

SNV
Germline

Chr2:178770169

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA61003543

rs_957431303

2 SubmittersRCV003034202 RCV003138447

NM_001267550.2(TTN):c.89684C>G (p.Ser29895Ter)

SNV
Germline

Chr2:178553216

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349516876

rs_2469317919

1 SubmittersRCV003042132

NM_001267550.2(TTN):c.94365G>A (p.Trp31455Ter)

SNV
Germline

Chr2:178547160

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349474776

rs_2469082011

1 SubmittersRCV003046126

NM_001267550.2(TTN):c.103644T>G (p.Tyr34548Ter)

SNV
Germline

Chr2:178532971

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349413826

rs_2154134774

1 SubmittersRCV003024151

NM_001267550.2(TTN):c.73998T>A (p.Cys24666Ter)

SNV
Germline

Chr2:178572134

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349636178

rs_2468524360

1 SubmittersRCV003028694

NM_001267550.2(TTN):c.66885G>A (p.Trp22295Ter)

SNV
Germline

Chr2:178580494

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349425571

rs_1202934929

1 SubmittersRCV003019718

NM_001267550.2(TTN):c.67490G>A (p.Trp22497Ter)

SNV
Germline

Chr2:178579707

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349423643

rs_2468896662

1 SubmittersRCV003038498

NM_000070.3(CAPN3):c.2116-1G>C

SNV
Germline

Chr15:42410427

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392001601

rs_2548292755

1 SubmittersRCV003042035

NM_001267550.2(TTN):c.73110G>A (p.Trp24370Ter)

SNV
Germline

Chr2:178573022

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA349643934

rs_1261582084

2 SubmittersRCV003031984 RCV004796754

NM_213599.3(ANO5):c.1873G>T (p.Gly625Ter)

SNV
Germline

Chr11:22263018

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

CA379923035

rs_2494324095

1 SubmittersRCV003046242

NM_001267550.2(TTN):c.50163T>G (p.Tyr16721Ter)

SNV
Germline

Chr2:178612362

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349598721

rs_2470536930

1 SubmittersRCV003032473

NM_001267550.2(TTN):c.40222+1G>A

SNV
Germline

Chr2:178647063

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349441470

rs_1238551111

1 SubmittersRCV003037677

NM_001267550.2(TTN):c.3310C>T (p.Gln1104Ter)

SNV
Germline

Chr2:178782282

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349486591

rs_2533326832

1 SubmittersRCV003023812

NM_001267550.2(TTN):c.35309-1G>A

SNV
Germline

Chr2:178670296

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349513968

rs_1239116046

1 SubmittersRCV003034680

NM_017739.4(POMGNT1):c.1352G>A (p.Trp451Ter)

SNV
Germline

Chr1:46192369

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA340175293

rs_2525387871

2 SubmittersRCV003026963 RCV004572608

NM_001267550.2(TTN):c.104779A>T (p.Lys34927Ter)

SNV
Germline

Chr2:178531836

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349410942

rs_2468425141

1 SubmittersRCV003017196

NM_001267550.2(TTN):c.40223-1G>A

SNV
Germline

Chr2:178646560

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349441286

rs_2472105562

1 SubmittersRCV003028921

NM_000070.3(CAPN3):c.802-1G>A

SNV
Germline

Chr15:42389952

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391998423

rs_2548261988

1 SubmittersRCV003014953

NM_001267550.2(TTN):c.21403+2T>G

SNV
Germline

Chr2:178723854

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349535067

rs_2078872337

2 SubmittersRCV003034370 RCV003232764

NM_001267550.2(TTN):c.95446G>T (p.Glu31816Ter)

SNV
Germline

Chr2:178545664

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349461556

rs_2469015874

1 SubmittersRCV003039026

NM_001267550.2(TTN):c.32656C>T (p.Gln10886Ter)

SNV
Germline

Chr2:178684396

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349546376

rs_2474151503

1 SubmittersRCV003027497

NM_001267550.2(TTN):c.19237G>T (p.Glu6413Ter)

SNV
Germline

Chr2:178728689

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA60977276

rs_1003952760

1 SubmittersRCV003046851

NM_001267550.2(TTN):c.58417C>T (p.Gln19473Ter)

SNV
Germline

Chr2:178593976

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349506636

rs_2050845376

1 SubmittersRCV003054030

NM_001267550.2(TTN):c.17182+1G>A

SNV
Germline

Chr2:178731692

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA2001905

rs_768821549

1 SubmittersRCV003055372

NM_001267550.2(TTN):c.51574G>T (p.Glu17192Ter)

SNV
Germline

Chr2:178609849

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349584334

rs_2470408475

1 SubmittersRCV003035710

NM_001267550.2(TTN):c.83297C>A (p.Ser27766Ter)

SNV
Germline

Chr2:178562835

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349568426

rs_2468137966

1 SubmittersRCV003043621

NM_021971.4(GMPPB):c.951G>A (p.Trp317Ter)

SNV
Germline

Chr3:49721965

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

CA352826728

rs_2544752296

1 SubmittersRCV003043757

NM_001267550.2(TTN):c.31735A>T (p.Lys10579Ter)

SNV
Germline

Chr2:178692043

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349559007

rs_376287951

1 SubmittersRCV003047755

NM_001267550.2(TTN):c.47379C>G (p.Tyr15793Ter)

SNV
Germline

Chr2:178617972

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349617516

rs_374281025

1 SubmittersRCV003055552

NM_001267550.2(TTN):c.49533-1G>C

SNV
Germline

Chr2:178613277

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349602502

rs_2470583786

1 SubmittersRCV003057956

NM_001267550.2(TTN):c.10144A>T (p.Lys3382Ter)

SNV
Germline

Chr2:178759143

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349673611

rs_2531938791

1 SubmittersRCV003035180

NM_001267550.2(TTN):c.39895+2T>C

SNV
Germline

Chr2:178649815

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349447848

rs_1427022532

1 SubmittersRCV003059094

NM_001267550.2(TTN):c.97193-2A>C

SNV
Germline

Chr2:178542565

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349441791

rs_2468894392

1 SubmittersRCV003035526

NM_001267550.2(TTN):c.96742A>T (p.Arg32248Ter)

SNV
Germline

Chr2:178543231

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349445648

rs_2468925527

1 SubmittersRCV003049571

NM_001267550.2(TTN):c.79523G>A (p.Trp26508Ter)

SNV
Germline

Chr2:178566609

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349596376

rs_2468292526

1 SubmittersRCV003051865

NM_001267550.2(TTN):c.62742T>G (p.Tyr20914Ter)

SNV
Germline

Chr2:178588983

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349460690

rs_1410796140

1 SubmittersRCV003051876

NM_001267550.2(TTN):c.67297G>T (p.Glu22433Ter)

SNV
Germline

Chr2:178579990

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349424057

rs_2468908754

1 SubmittersRCV003024624

NM_001267550.2(TTN):c.3829G>T (p.Glu1277Ter)

SNV
Germline

Chr2:178779363

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349477782

rs_2533100772

1 SubmittersRCV003030160

NM_001267550.2(TTN):c.75448C>T (p.Gln25150Ter)

SNV
Germline

Chr2:178570684

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349625249

rs_1421628949

1 SubmittersRCV003033214

NM_001267550.2(TTN):c.915-2A>G

SNV
Germline

Chr2:178795254

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349520094

rs_2534099563

1 SubmittersRCV003054809

NM_001101426.4(CRPPA):c.1092C>A (p.Cys364Ter)

SNV
Germline

Chr7:16258417

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Single Submitter

CA367000528

rs_1418861315

1 SubmittersRCV003047070

NM_001267550.2(TTN):c.44438C>G (p.Ser14813Ter)

SNV
Germline

Chr2:178625383

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349641809

rs_2471199350

1 SubmittersRCV003054940

NM_001267550.2(TTN):c.69861G>A (p.Trp23287Ter)

SNV
Germline

Chr2:178576271

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349666112

rs_2468719258

1 SubmittersRCV003054943

NM_001267550.2(TTN):c.48760+1G>A

SNV
Germline

Chr2:178614846

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349608130

rs_1474000709

1 SubmittersRCV003039861

NM_001267550.2(TTN):c.77751T>A (p.Tyr25917Ter)

SNV
Germline

Chr2:178568381

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349605048

rs_2468360387

1 SubmittersRCV003057411

NM_001267550.2(TTN):c.30889G>T (p.Glu10297Ter)

SNV
Germline

Chr2:178696183

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349566298

rs_756360188

1 SubmittersRCV003036261

NM_001267550.2(TTN):c.77785C>T (p.Gln25929Ter)

SNV
Germline

Chr2:178568347

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349604823

rs_758386212

3 SubmittersRCV003036295 RCV005631087 RCV006342721

NM_001077365.2(POMT1):c.1390T>C (p.Trp464Arg)

SNV
Germline

Chr9:131518861

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Single Submitter

CA5293686

rs_376126988

1 SubmittersRCV003039275

NM_001267550.2(TTN):c.90152G>A (p.Trp30051Ter)

SNV
Germline

Chr2:178552748

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349513480

rs_2469301824

1 SubmittersRCV003059572

NM_001267550.2(TTN):c.81357G>A (p.Trp27119Ter)

SNV
Germline

Chr2:178564775

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349581739

rs_1384101598

2 SubmittersRCV003025373 RCV004068707

NM_001267550.2(TTN):c.51925C>T (p.Gln17309Ter)

SNV
Germline

Chr2:178609385

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349579182

rs_2470386291

2 SubmittersRCV003043997 RCV003485806

NM_001267550.2(TTN):c.43693C>T (p.Gln14565Ter)

SNV
Germline

Chr2:178632201

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349649369

rs_2471453840

2 SubmittersRCV003064233 RCV005239608

NM_001267550.2(TTN):c.72839T>G (p.Leu24280Ter)

SNV
Germline

Chr2:178573293

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349645190

rs_2468577841

1 SubmittersRCV003058062

NM_001267550.2(TTN):c.104266A>T (p.Arg34756Ter)

SNV
Germline

Chr2:178532349

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349412120

rs_2468447321

1 SubmittersRCV003044330

NM_001267550.2(TTN):c.73687A>T (p.Arg24563Ter)

SNV
Germline

Chr2:178572445

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349637558

rs_2468537034

1 SubmittersRCV003036471

NM_000070.3(CAPN3):c.1552C>T (p.Gln518Ter)

SNV
Germline

Chr15:42402809

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392000104

rs_2548279192

1 SubmittersRCV003040927

NM_001267550.2(TTN):c.106189C>T (p.Gln35397Ter)

SNV
Germline

Chr2:178530426

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349406699

rs_2468369388

3 SubmittersRCV003040984 RCV003128878 RCV004017959

NM_001267550.2(TTN):c.2086G>T (p.Gly696Ter)

SNV
Germline

Chr2:178786132

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349502216

rs_2533566243

1 SubmittersRCV003050088

NM_001267550.2(TTN):c.97312G>T (p.Glu32438Ter)

SNV
Germline

Chr2:178542444

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349440615

rs_2468890840

1 SubmittersRCV003052392

NM_001267550.2(TTN):c.86597G>A (p.Trp28866Ter)

SNV
Germline

Chr2:178559535

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349542723

rs_779438420

2 SubmittersRCV003045043 RCV004801942

NM_001267550.2(TTN):c.33581-2A>T

SNV
Germline

Chr2:178679684

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349536725

rs_2473903903

1 SubmittersRCV003065936

NM_201384.3(PLEC):c.8384G>A (p.Gly2795Asp)

SNV
Germline

Chr8:143921437

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA4925337

rs_782632583

3 SubmittersRCV002898150 RCV003130879 RCV005215953

NM_001267550.2(TTN):c.82888C>T (p.Gln27630Ter)

SNV
Germline

Chr2:178563244

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349570825

rs_2468154852

2 SubmittersRCV004165135 RCV005215954

NM_001130987.2(DYSF):c.5885-1G>A

SNV
Germline

Chr2:71679056

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Multiple Submitters
No Conflicts

CA347226210

rs_771257070

2 SubmittersRCV003123434 RCV003778670

NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)

SNV
Germline

Chr14:77301120

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Multiple Submitters
No Conflicts

CA7286092

rs_200542239

3 SubmittersRCV003123477 RCV003475531 RCV003778672

NM_000023.4(SGCA):c.269A>G (p.Tyr90Cys)

SNV
Germline

Chr17:50167693

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2D
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400177765

rs_1373671710

4 SubmittersRCV003123566 RCV003509775 RCV004593213

NM_001267550.2(TTN):c.64245G>A (p.Trp21415Ter)

SNV
Germline

Chr2:178586656

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349442432

rs_369299712

3 SubmittersRCV003111528 RCV003778676

NM_017739.4(POMGNT1):c.1804C>T (p.Leu602=)

SNV
Germline

Chr1:46189549

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833222

rs_752229468

2 SubmittersRCV003129263 RCV003778688

NM_213599.3(ANO5):c.2498T>G (p.Met833Arg)

SNV
Germline

Chr11:22276177

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA5923598

rs_142073798

3 SubmittersRCV003129271 RCV006460527

NM_201384.3(PLEC):c.11765C>G (p.Thr3922Ser)

SNV
Germline

Chr8:143918056

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4924250

rs_782210275

3 SubmittersRCV003132016 RCV003778757 RCV005467926

NM_201384.3(PLEC):c.9538G>A (p.Ala3180Thr)

SNV
Germline

Chr8:143920283

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA4924937

rs_782281123

3 SubmittersRCV003135003 RCV003164834 RCV003778760

NM_001267550.2(TTN):c.28561C>T (p.Gln9521Ter)

SNV
Germline

Chr2:178709758

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349591865

rs_1225914438

2 SubmittersRCV003137430 RCV005215982

NM_201384.3(PLEC):c.6217C>T (p.Gln2073Ter)

SNV
Germline

Chr8:143923712

Pathogenic/Likely pathogenic

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Multiple Submitters
No Conflicts

CA372537912

rs_1381450738

2 SubmittersRCV003131229 RCV003778709

NM_213599.3(ANO5):c.40+2T>C

SNV
Germline

Chr11:22193534

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA5922741

rs_760033003

2 SubmittersRCV003132915 RCV003778733

NM_001267550.2(TTN):c.18813C>A (p.Cys6271Ter)

SNV
Germline

Chr2:178729343

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349559599

rs_1440628720

2 SubmittersRCV003143201 RCV005227900

NM_001267550.2(TTN):c.30447C>A (p.Val10149=)

SNV
Germline

Chr2:178702232

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430278971

rs_1308539880

2 SubmittersRCV003136975 RCV003778812

NM_001267550.2(TTN):c.32392+8G>A

SNV
Germline

Chr2:178685510

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2580065100

rs_895881881

2 SubmittersRCV003137051 RCV006561070

NM_001267550.2(TTN):c.24635C>A (p.Ser8212Ter)

SNV
Germline

Chr2:178718471

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349497868

rs_2529260563

2 SubmittersRCV003137113 RCV005209596

NM_000023.4(SGCA):c.304G>T (p.Val102Phe)

SNV
Germline

Chr17:50167728

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

CA400177974

rs_1266940329

2 SubmittersRCV003136641

NM_001267550.2(TTN):c.33249G>T (p.Val11083=)

SNV
Germline

Chr2:178681170

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA1998402

rs_773979636

3 SubmittersRCV003142954 RCV006561064

NM_001267550.2(TTN):c.25639+1G>T

SNV
Germline

Chr2:178717094

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349483500

rs_1220111705

3 SubmittersRCV003143090 RCV006561067

NM_001267550.2(TTN):c.20376G>T (p.Val6792=)

SNV
Germline

Chr2:178725946

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430291667

rs_2529711754

2 SubmittersRCV003143128 RCV006561068

NM_001267550.2(TTN):c.31427-1G>T

SNV
Germline

Chr2:178694009

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349562124

rs_2474592385

2 SubmittersRCV003143141 RCV006561069

NM_058246.4(DNAJB6):c.236-3C>G

SNV
Germline

Chr7:157367370

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Criteria Provided
Conflicting Classifications

CA2579753940

rs_762487513

3 SubmittersRCV003146758

NM_001130987.2(DYSF):c.5413G>A (p.Glu1805Lys)

SNV
Germline

Chr2:71667471

Pathogenic

Condition: not provided
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA1707354

rs_771402331

6 SubmittersRCV003146936 RCV003236671 RCV005419599

NM_021971.4(GMPPB):c.952-12C>T

SNV
Germline

Chr3:49721895

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14

Criteria Provided
Conflicting Classifications

CA74541297

rs_969160309

2 SubmittersRCV003131039 RCV003778704

NM_000231.3(SGCG):c.361G>T (p.Glu121Ter)

SNV
Germline

Chr13:23250693

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA246628675

rs_1013988350

2 SubmittersRCV003131442

NM_201384.3(PLEC):c.6012G>C (p.Arg2004=)

SNV
Germline

Chr8:143923917

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
PLEC-related disorder

Criteria Provided
Conflicting Classifications

CA4926144

rs_782708058

3 SubmittersRCV003135014 RCV003778762 RCV004538902

NM_201384.3(PLEC):c.13594G>A (p.Ala4532Thr)

SNV
Germline

Chr8:143916227

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Conflicting Classifications

CA187605975

rs_960253843

3 SubmittersRCV003135024 RCV003778768 RCV005429101

NM_201384.3(PLEC):c.6066G>A (p.Arg2022=)

SNV
Germline

Chr8:143923863

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Conflicting Classifications

CA187615064

rs_545632286

2 SubmittersRCV003135034 RCV005215977

NM_012470.4(TNPO3):c.1105A>G (p.Ile369Val)

SNV
Germline

Chr7:128997442

Conflicting classifications of pathogenicity

Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Conflicting Classifications

CA4478249

rs_139019562

2 SubmittersRCV003141072

NM_001267550.2(TTN):c.86822-8T>G

SNV
Germline

Chr2:178558645

Conflicting classifications of pathogenicity

Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Hypertrophic cardiomyopathy 9
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2577170564

rs_2469577439

2 SubmittersRCV003147847 RCV003147848 RCV003147844 RCV003147846 RCV003147843 RCV003147845 RCV003778885

NM_001267550.2(TTN):c.93043G>C (p.Asp31015His)

SNV
Germline

Chr2:178548583

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 9
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA60974075

rs_1006806821

2 SubmittersRCV003148103 RCV003148106 RCV003148107 RCV003148105 RCV003148108 RCV003148104 RCV005628379

NM_001267550.2(TTN):c.71544T>G (p.His23848Gln)

SNV
Germline

Chr2:178574588

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 9
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA61000863

rs_1026649081

2 SubmittersRCV003148153 RCV003148156 RCV003148155 RCV003148157 RCV003148158 RCV003148154 RCV005628380

NM_021971.4(GMPPB):c.130-2A>C

SNV
Unknown

Chr3:49723474

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

CA352831122

rs_2544757590

1 SubmittersRCV003152978

NM_000070.3(CAPN3):c.379G>A (p.Gly127Arg)

SNV
Unknown

Chr15:42384552

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391997448

rs_2548252820

1 SubmittersRCV003153101

NM_013382.7(POMT2):c.785G>A (p.Trp262Ter)

SNV
Germline

Chr14:77301121

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Single Submitter

CA390520141

rs_2503276780

1 SubmittersRCV003155780

NM_001267550.2(TTN):c.39709+1G>A

SNV
Germline

Chr2:178650750

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive titinopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349452480

rs_1576940155

3 SubmittersRCV003778932 RCV005240717 RCV006435325

NM_001267550.2(TTN):c.43480+2T>C

SNV
Germline

Chr2:178632524

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349650457

rs_1177799464

2 SubmittersRCV003165022 RCV005227917

NM_001267550.2(TTN):c.50552-1G>A

SNV
Germline

Chr2:178611678

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA349595354

rs_2470501907

2 SubmittersRCV003187545 RCV003779528

NM_001267550.2(TTN):c.669+1G>T

SNV
Germline

Chr2:178799824

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349524639

rs_1574982376

2 SubmittersRCV003187561 RCV003779530

NM_001267550.2(TTN):c.82470G>A (p.Trp27490Ter)

SNV
Germline

Chr2:178563662

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349573367

rs_2468175075

2 SubmittersRCV003187578 RCV003779531

NM_001267550.2(TTN):c.92298G>A (p.Trp30766Ter)

SNV
Germline

Chr2:178549328

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349493768

rs_2469158014

2 SubmittersRCV003187622 RCV003779537

NM_001267550.2(TTN):c.49793G>A (p.Trp16598Ter)

SNV
Germline

Chr2:178612928

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349600997

rs_2056613965

2 SubmittersRCV003187636 RCV003779541

NM_001267550.2(TTN):c.104753T>A (p.Leu34918Ter)

SNV
Germline

Chr2:178531862

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349411003

rs_2468426201

2 SubmittersRCV003187644 RCV006561158

NM_021942.6(TRAPPC11):c.2779A>G (p.Ile927Val)

SNV
Germline

Chr4:183697763

Conflicting classifications of pathogenicity

Inborn genetic diseases
Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Conflicting Classifications

CA111861591

rs_896056101

2 SubmittersRCV003180578 RCV005101264

NM_001267550.2(TTN):c.79096A>T (p.Lys26366Ter)

SNV
Germline

Chr2:178567036

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349599733

rs_2468308520

1 SubmittersRCV003219198

NM_013382.7(POMT2):c.333+1G>T

SNV
Germline

Chr14:77311948

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Multiple Submitters
No Conflicts

CA390502504

rs_1318210394

3 SubmittersRCV003226131 RCV005012815 RCV006454395

NM_000231.3(SGCG):c.269T>C (p.Leu90Ser)

SNV
Germline

Chr13:23234684

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387506650

rs_1254791358

3 SubmittersRCV003226653 RCV005636875 RCV005256910

NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)

SNV
Germline

Chr2:71570604

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347216898

rs_1424933941

2 SubmittersRCV003226741 RCV003466044

NM_001267550.2(TTN):c.85494G>A (p.Trp28498Ter)

SNV
Germline

Chr2:178560638

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349553271

rs_1703274205

3 SubmittersRCV003227365 RCV003779823 RCV004686771

NM_000070.3(CAPN3):c.1128G>A (p.Trp376Ter)

SNV
Germline

Chr15:42396812

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

No Assertion Criteria Provided

CA391999141

rs_2548270143

1 SubmittersRCV003326700

NM_000070.3(CAPN3):c.380G>A (p.Gly127Glu)

SNV
Germline

Chr15:42386167

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA391997463

rs_2548255674

2 SubmittersRCV003236296 RCV005409923

NM_000231.3(SGCG):c.212T>C (p.Leu71Ser)

SNV
Germline

Chr13:23234627

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA6909613

rs_143009120

3 SubmittersRCV003236389 RCV005485383 RCV005631134

NM_001130987.2(DYSF):c.5993T>C (p.Leu1998Pro)

SNV
Germline

Chr2:71679165

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347226445

rs_769954220

1 SubmittersRCV003234975

NM_001077365.2(POMT1):c.688A>T (p.Thr230Ser)

SNV
Germline

Chr9:131509985

Conflicting classifications of pathogenicity

Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA5293371

rs_776314368

2 SubmittersRCV003261083 RCV003779940

NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter)

SNV
Germline

Chr2:178540194

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
TTN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA60965970

rs_879097896

4 SubmittersRCV003310301 RCV004017977 RCV003777131 RCV004529618

NM_001130987.2(DYSF):c.5195G>C (p.Arg1732Pro)

SNV
Germline

Chr2:71665182

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347220943

rs_779987458

1 SubmittersRCV003307365

NM_001267550.2(TTN):c.94286G>A (p.Trp31429Ter)

SNV
Germline

Chr2:178547239

Likely pathogenic

Titinopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349475705

rs_2469084389

2 SubmittersRCV003312106 RCV006561397

NM_000070.3(CAPN3):c.2439+1G>T

SNV
Germline

Chr15:42411346

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392002358

rs_867531606

1 SubmittersRCV003314261

NM_001267550.2(TTN):c.90495G>A (p.Trp30165Ter)

SNV
Germline

Chr2:178552405

Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349510299

rs_761010373

2 SubmittersRCV003315109 RCV003777286

NM_000070.3(CAPN3):c.1894A>T (p.Lys632Ter)

SNV
Germline

Chr15:42408304

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA392000861

rs_2548287991

2 SubmittersRCV003319878 RCV005409928

NM_001267550.2(TTN):c.73750C>T (p.Gln24584Ter)

SNV
Germline

Chr2:178572382

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349637178

rs_1708542756

2 SubmittersRCV003319928 RCV003777314

NM_001267550.2(TTN):c.28513G>T (p.Glu9505Ter)

SNV
Germline

Chr2:178709806

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349592345

rs_2076393894

2 SubmittersRCV003324949 RCV006561421

NM_001267550.2(TTN):c.12618A>G (p.Leu4206=)

SNV
Germline

Chr2:178740615

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430296197

rs_2082322839

3 SubmittersRCV003324965 RCV004992594 RCV005227990

NM_000070.3(CAPN3):c.2306G>T (p.Arg769Leu)

SNV
Germline

Chr15:42410926

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Conflicting Classifications

CA392002042

rs_80338802

3 SubmittersRCV003326234 RCV004526252 RCV005012874

NM_001267550.2(TTN):c.8117-1G>T

SNV
Germline

Chr2:178770676

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349678094

rs_2532510791

2 SubmittersRCV003327068 RCV005216057

NM_021942.6(TRAPPC11):c.1522C>T (p.Gln508Ter)

SNV
Germline

Chr4:183684796

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Multiple Submitters
No Conflicts

CA358867540

rs_1234694300

3 SubmittersRCV003329978 RCV003581927

NM_000023.4(SGCA):c.186C>A (p.Tyr62Ter)

SNV
Unknown

Chr17:50167610

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

No Assertion Criteria Provided

CA400177235

rs_766400853

1 SubmittersRCV003334456

NM_213599.3(ANO5):c.1707C>G (p.Tyr569Ter)

SNV
Germline

Chr11:22262205

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379922646

rs_1415324050

1 SubmittersRCV003340788

NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)

SNV
Germline

Chr2:71643987

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA347217851

rs_2094528176

2 SubmittersRCV003340929 RCV003466067

NM_001161403.3(LIMS2):c.238+1G>T

SNV
Germline

Chr2:127654829

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2W

Criteria Provided
Single Submitter

CA348431554

rs_1416116174

1 SubmittersRCV003340955

NM_001130987.2(DYSF):c.1156A>T (p.Arg386Ter)

SNV
Germline

Chr2:71526226

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

CA347212929

rs_2545491594

1 SubmittersRCV003337855

NM_012470.4(TNPO3):c.2430+1G>A

SNV
Germline

Chr7:128972425

Likely pathogenic

Autosomal dominant limb-girdle muscular dystrophy type 1F

Criteria Provided
Single Submitter

CA369252233

rs_1479952680

1 SubmittersRCV003337964

NM_000023.4(SGCA):c.37+1G>A

SNV
Germline

Chr17:50166078

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA291568970

rs_111386656

1 SubmittersRCV003338032

NM_000231.3(SGCG):c.786C>G (p.Tyr262Ter)

SNV
Germline

Chr13:23324451

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Conflicting Classifications

CA387503786

rs_759316719

2 SubmittersRCV003338165

NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)

SNV
Germline

Chr13:23203786

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA387502506

rs_2500525030

2 SubmittersRCV003338920

NM_001267550.2(TTN):c.229C>T (p.Arg77Ter)

SNV
Germline

Chr2:178802204

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349530672

rs_1347415564

2 SubmittersRCV003360611 RCV005228016

NM_001267550.2(TTN):c.91416C>T (p.Asn30472=)

SNV
Germline

Chr2:178551115

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA430103799

rs_2469236276

2 SubmittersRCV003360566 RCV006561456

NM_001267550.2(TTN):c.89178C>G (p.Tyr29726Ter)

SNV
Germline

Chr2:178553933

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349520398

rs_762411631

2 SubmittersRCV003360576 RCV003777463

NM_001267550.2(TTN):c.57263-2A>G

SNV
Germline

Chr2:178597821

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA349522170

rs_2469806182

2 SubmittersRCV003360583 RCV006561458

NM_001267550.2(TTN):c.3217C>T (p.Gln1073Ter)

SNV
Germline

Chr2:178782375

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349487542

rs_2092857726

2 SubmittersRCV003358359 RCV005228015

NM_001267550.2(TTN):c.76990C>T (p.Gln25664Ter)

SNV
Germline

Chr2:178569142

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349613017

rs_1707186504

2 SubmittersRCV003360587 RCV003777466

NM_000232.5(SGCB):c.630C>G (p.Ser210Arg)

SNV
Germline

Chr4:52028091

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Single Submitter

CA356876295

rs_2109370066

2 SubmittersRCV003388305

NM_001267550.2(TTN):c.68137G>T (p.Glu22713Ter)

SNV
Germline

Chr2:178578893

Likely pathogenic

TTN-related disorder
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349421469

rs_895744220

4 SubmittersRCV004531550 RCV005216082 RCV005251360 RCV005774601

NM_201384.3(PLEC):c.1737+11C>G

SNV
Germline

Chr8:143932782

Conflicting classifications of pathogenicity

not specified
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA4927882

rs_554677505

2 SubmittersRCV003405038 RCV006561604

NM_001267550.2(TTN):c.32806+7T>G

SNV
Germline

Chr2:178683992

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

CA2662145336

rs_745453087

2 SubmittersRCV003429427 RCV006561623

NM_201384.3(PLEC):c.7666C>G (p.Arg2556Gly)

SNV
Germline

Chr8:143922155

Conflicting classifications of pathogenicity

Condition: not provided
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Conflicting Classifications

CA372523226

rs_781882121

2 SubmittersRCV003440761 RCV006561637

NM_001267550.2(TTN):c.18541C>T (p.Arg6181Ter)

SNV
Germline

Chr2:178729712

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2001606

rs_775209602

2 SubmittersRCV003441225 RCV005216107

NM_001130987.2(DYSF):c.5149T>C (p.Cys1717Arg)

SNV
Germline

Chr2:71664413

Pathogenic/Likely pathogenic

Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

CA347220599

rs_766091136

3 SubmittersRCV003475592 RCV003575101 RCV005616639

NM_001130987.2(DYSF):c.3672C>G (p.Tyr1224Ter)

SNV
Germline

Chr2:71598661

Pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347224046

rs_143393575

3 SubmittersRCV003460004 RCV005616640 RCV005602045

NM_001130987.2(DYSF):c.2695A>C (p.Thr899Pro)

SNV
Germline

Chr2:71568080

Likely pathogenic

Miyoshi muscular dystrophy 1
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA347214045

rs_1574042462

3 SubmittersRCV003460007 RCV005636938 RCV004801349

NM_001130987.2(DYSF):c.5977G>T (p.Glu1993Ter)

SNV
Germline

Chr2:71679149

Pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347226407

rs_1356633122

2 SubmittersRCV003460011 RCV004999944

NM_017739.4(POMGNT1):c.1398G>A (p.Trp466Ter)

SNV
Germline

Chr1:46192323

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA340174854

rs_2525386608

2 SubmittersRCV003463349 RCV005030046

NM_017739.4(POMGNT1):c.296T>C (p.Leu99Pro)

SNV
Germline

Chr1:46196789

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA340191646

rs_2525462732

2 SubmittersRCV003463350 RCV005021981

NM_017739.4(POMGNT1):c.1650-2A>G

SNV
Germline

Chr1:46189991

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA340171671

rs_2525345840

2 SubmittersRCV003463354 RCV005030047

NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)

SNV
Germline

Chr9:131512054

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA5293500

rs_578199793

2 SubmittersRCV003463358 RCV003779070

NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)

SNV
Germline

Chr9:131506153

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Multiple Submitters
No Conflicts

CA375305617

rs_1945764912

3 SubmittersRCV003472483 RCV003779073 RCV005047605

NM_001077365.2(POMT1):c.699+24C>A

SNV
Germline

Chr9:131510020

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Conflicting Classifications

CA5293376

rs_764724167

2 SubmittersRCV003472488 RCV003779075

NM_013382.7(POMT2):c.248+1G>A

SNV
Germline

Chr14:77320433

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Multiple Submitters
No Conflicts

CA390504230

rs_961440747

2 SubmittersRCV003472501 RCV005012968

NM_013382.7(POMT2):c.1184-1G>C

SNV
Germline

Chr14:77288832

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Multiple Submitters
No Conflicts

CA7285932

rs_751984732

3 SubmittersRCV003472502 RCV004577041 RCV005012969

NM_013382.7(POMT2):c.1781A>G (p.Asn594Ser)

SNV
Germline

Chr14:77280025

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Multiple Submitters
No Conflicts

CA390514964

rs_2503166655

2 SubmittersRCV003472504 RCV005012970

NM_013382.7(POMT2):c.287A>G (p.Tyr96Cys)

SNV
Germline

Chr14:77311995

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7286240

rs_748900993

3 SubmittersRCV003472510 RCV005012971 RCV006262818

NM_013382.7(POMT2):c.248+1G>T

SNV
Germline

Chr14:77320433

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Multiple Submitters
No Conflicts

CA390504228

rs_961440747

2 SubmittersRCV003472511 RCV005356446

NM_013382.7(POMT2):c.1254-2A>G

SNV
Germline

Chr14:77286824

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Multiple Submitters
No Conflicts

CA390517806

rs_2503203792

2 SubmittersRCV003472513 RCV003779076

NM_024301.5(FKRP):c.1210C>T (p.Arg404Cys)

SNV
Germline

Chr19:46756660

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
not specified
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5

Criteria Provided
Conflicting Classifications

CA406496878

rs_1437430439

3 SubmittersRCV003468199 RCV004526987 RCV005030039

NM_001079802.2(FKTN):c.49A>C (p.Ser17Arg)

SNV
Germline

Chr9:105575081

Likely pathogenic

Dilated cardiomyopathy 1X
Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA374330877

rs_1272573854

4 SubmittersRCV003476406 RCV005047596 RCV006455661 RCV006473229

NM_000023.4(SGCA):c.699C>G (p.Tyr233Ter)

SNV
Unknown

Chr17:50169206

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400180855

rs_201860673

1 SubmittersRCV003472659

NM_000023.4(SGCA):c.386-1G>A

SNV
Unknown

Chr17:50168373

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400179766

rs_2509121499

1 SubmittersRCV003472663

NM_000023.4(SGCA):c.725T>C (p.Val242Ala)

SNV
Germline

Chr17:50169232

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

CA400181029

rs_1384158714

3 SubmittersRCV003472667

NM_000023.4(SGCA):c.37+3A>T

SNV
Unknown

Chr17:50166080

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA2263904262

rs_1370709181

1 SubmittersRCV003472668

NM_000023.4(SGCA):c.157+2T>G

SNV
Unknown

Chr17:50167489

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400177036

rs_2509118207

1 SubmittersRCV003472670

NM_000023.4(SGCA):c.20G>A (p.Trp7Ter)

SNV
Unknown

Chr17:50166060

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400210641

rs_2509113935

1 SubmittersRCV003472672

NM_000232.5(SGCB):c.430-2A>G

SNV
Germline

Chr4:52028923

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA356877111

rs_2475222188

2 SubmittersRCV003463546

NM_000232.5(SGCB):c.621+2T>C

SNV
Unknown

Chr4:52028728

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Single Submitter

CA356876409

rs_2475221407

1 SubmittersRCV003472679

NM_000232.5(SGCB):c.404T>A (p.Leu135Ter)

SNV
Unknown

Chr4:52029703

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Single Submitter

CA356877175

rs_2475223506

1 SubmittersRCV003472684

NM_000231.3(SGCG):c.10G>T (p.Glu4Ter)

SNV
Unknown

Chr13:23203704

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA387502280

rs_2500524682

1 SubmittersRCV003472695

NM_000231.3(SGCG):c.579-1G>A

SNV
Germline

Chr13:23320636

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA387502412

rs_1883001175

2 SubmittersRCV003472703

NM_000231.3(SGCG):c.579-1G>C

SNV
Unknown

Chr13:23320636

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA387502415

rs_1883001175

1 SubmittersRCV003472704

NM_000231.3(SGCG):c.298-2A>G

SNV
Germline

Chr13:23250628

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA387501516

rs_1555240119

2 SubmittersRCV003472705

NM_000070.3(CAPN3):c.1309C>G (p.Arg437Gly)

SNV
Germline

Chr15:42399607

Pathogenic/Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA391999560

rs_777483913

5 SubmittersRCV003474475 RCV003517504 RCV004587503 RCV005012980 RCV005631168

NM_000070.3(CAPN3):c.506G>A (p.Arg169His)

SNV
Germline

Chr15:42387760

Conflicting classifications of pathogenicity

Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

CA391997757

rs_1459943941

2 SubmittersRCV003460310 RCV003517505

NM_000070.3(CAPN3):c.1162C>T (p.Gln388Ter)

SNV
Germline

Chr15:42396846

Pathogenic

Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA269841797

rs_1051798261

2 SubmittersRCV003460315 RCV003631324

NM_000070.3(CAPN3):c.498+2T>C

SNV
Germline

Chr15:42386287

Pathogenic/Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA391997729

rs_2548255993

2 SubmittersRCV003460324 RCV006473263

NM_000070.3(CAPN3):c.853G>T (p.Glu285Ter)

SNV
Germline

Chr15:42390004

Pathogenic

Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA391998532

rs_2548262153

2 SubmittersRCV003460331 RCV005409934

NM_001267550.2(TTN):c.29863C>T (p.Arg9955Ter)

SNV
Germline

Chr2:178704609

Likely pathogenic

Early-onset myopathy with fatal cardiomyopathy
Hypertrophic cardiomyopathy 9
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349577634

rs_2075564475

2 SubmittersRCV003458186 RCV003778503

NM_001267550.2(TTN):c.67543G>T (p.Glu22515Ter)

SNV
Germline

Chr2:178579654

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349423528

rs_2468894658

2 SubmittersRCV003457306 RCV006561666

NM_021942.6(TRAPPC11):c.126A>T (p.Ala42=)

SNV
Germline

Chr4:183663993

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Conflicting Classifications

CA3151484

rs_753631615

2 SubmittersRCV003457425 RCV006616919

NM_001267550.2(TTN):c.39295+1G>C

SNV
Germline

Chr2:178652095

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349458980

rs_2063099465

2 SubmittersRCV003779194 RCV005414294

NM_001267550.2(TTN):c.31402C>T (p.Gln10468Ter)

SNV
Germline

Chr2:178694623

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60991652

rs_1005082526

2 SubmittersRCV003482584 RCV003779223

NM_001267550.2(TTN):c.49638G>A (p.Lys16546=)

SNV
Germline

Chr2:178613171

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA60986805

rs_7355450

2 SubmittersRCV003482587 RCV003779224

NM_201384.3(PLEC):c.1738-9C>T

SNV
Germline

Chr8:143932721

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA586158568

rs_1554717956

2 SubmittersRCV003482797 RCV003779230

NM_201384.3(PLEC):c.3105G>T (p.Gly1035=)

SNV
Germline

Chr8:143929258

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Conflicting Classifications

CA463433705

rs_1554710552

2 SubmittersRCV003482798 RCV005220732

NM_000023.4(SGCA):c.194A>C (p.His65Pro)

SNV
Germline

Chr17:50167618

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400177291

rs_2509118693

1 SubmittersRCV003486338

NM_000023.4(SGCA):c.584+5G>A

SNV
Germline

Chr17:50168577

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA2638705025

rs_2509122255

1 SubmittersRCV003486339

NM_000232.5(SGCB):c.630C>A (p.Ser210Arg)

SNV
Germline

Chr4:52028091

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Single Submitter

CA356876293

rs_2109370066

1 SubmittersRCV003486342

NM_001267550.2(TTN):c.34953A>G (p.Lys11651=)

SNV
Germline

Chr2:178672245

Conflicting classifications of pathogenicity

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA430278874

rs_1419763553

2 SubmittersRCV003487132 RCV003779266

NM_001267550.2(TTN):c.6508+10A>G

SNV
Germline

Chr2:178775346

Conflicting classifications of pathogenicity

Cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2005033

rs_772518653

2 SubmittersRCV003487167 RCV006561734

NM_000232.5(SGCB):c.622-1G>T

SNV
Germline

Chr4:52028100

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA356876335

rs_2109370093

2 SubmittersRCV003509899

NM_000023.4(SGCA):c.37+1G>T

SNV
Germline

Chr17:50166078

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA291568976

rs_111386656

1 SubmittersRCV003510670

NM_000070.3(CAPN3):c.1525-2A>G

SNV
Germline

Chr15:42402122

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392000023

rs_2548277487

1 SubmittersRCV003518074

NM_024301.5(FKRP):c.265C>G (p.Pro89Ala)

SNV
Germline

Chr19:46755715

Pathogenic/Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Multiple Submitters
No Conflicts

CA406494993

rs_1293404628

3 SubmittersRCV003593251 RCV004574085 RCV005616669

NM_000231.3(SGCG):c.216T>A (p.Cys72Ter)

SNV
Germline

Chr13:23234631

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA387506440

rs_1474297447

2 SubmittersRCV003499647

NM_000070.3(CAPN3):c.1524+1G>C

SNV
Germline

Chr15:42401811

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392000016

rs_1275289254

1 SubmittersRCV003518615

NM_000070.3(CAPN3):c.413T>C (p.Leu138Pro)

SNV
Germline

Chr15:42386200

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391997538

rs_2548255741

2 SubmittersRCV003518798

NM_000070.3(CAPN3):c.1742C>G (p.Ser581Cys)

SNV
Germline

Chr15:42402999

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392000503

rs_2548279629

1 SubmittersRCV003518800

NM_000070.3(CAPN3):c.1992+1G>A

SNV
Germline

Chr15:42409381

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392001305

rs_863224961

1 SubmittersRCV003518802

NM_000070.3(CAPN3):c.1782G>A (p.Val594=)

SNV
Germline

Chr15:42403777

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA489885243

rs_2548281168

3 SubmittersRCV003518846 RCV005631213

NM_001130987.2(DYSF):c.1417C>T (p.Gln473Ter)

SNV
Germline

Chr2:71535057

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA347215655

rs_2545554704

2 SubmittersRCV003573541 RCV005030109

NM_021942.6(TRAPPC11):c.374+1G>A

SNV
Germline

Chr4:183666427

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

CA358859148

rs_2477083166

1 SubmittersRCV003581447

NM_000023.4(SGCA):c.307A>T (p.Ile103Phe)

SNV
Germline

Chr17:50167731

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400177985

rs_370819630

1 SubmittersRCV003509020

NM_000023.4(SGCA):c.329G>T (p.Arg110Leu)

SNV
Germline

Chr17:50167963

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400178403

rs_145697858

1 SubmittersRCV003509021

NM_024301.5(FKRP):c.350C>G (p.Pro117Arg)

SNV
Germline

Chr19:46755800

Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA309099259

rs_941905630

2 SubmittersRCV003593341 RCV006454445

NM_021942.6(TRAPPC11):c.1816C>T (p.Gln606Ter)

SNV
Germline

Chr4:183686671

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

CA358869756

rs_1171897657

1 SubmittersRCV003582954

NM_000070.3(CAPN3):c.1936C>T (p.Gln646Ter)

SNV
Germline

Chr15:42409324

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA392001173

rs_2054129122

2 SubmittersRCV003517594

NM_000231.3(SGCG):c.196-1G>A

SNV
Germline

Chr13:23234610

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA387506354

rs_2541899899

1 SubmittersRCV003603231

NM_000070.3(CAPN3):c.698G>A (p.Gly233Glu)

SNV
Germline

Chr15:42388993

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391998185

rs_2548260314

1 SubmittersRCV003631430

NM_000070.3(CAPN3):c.633-1G>A

SNV
Germline

Chr15:42388927

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391998040

rs_2548260118

2 SubmittersRCV003631642

NM_000231.3(SGCG):c.578+1G>T

SNV
Germline

Chr13:23295488

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

CA387504409

rs_1555245353

1 SubmittersRCV003604325

NM_000070.3(CAPN3):c.1008C>G (p.Tyr336Ter)

SNV
Germline

Chr15:42392701

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391998866

rs_771989126

1 SubmittersRCV003632042

NM_000023.4(SGCA):c.217C>T (p.Pro73Ser)

SNV
Germline

Chr17:50167641

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

CA400177443

rs_2509118765

1 SubmittersRCV003623429

NM_001130987.2(DYSF):c.3391G>T (p.Glu1131Ter)

SNV
Germline

Chr2:71574360

Pathogenic/Likely pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset

Criteria Provided
Multiple Submitters
No Conflicts

CA347218542

rs_1231906656

2 SubmittersRCV003739570 RCV005030234

NM_021942.6(TRAPPC11):c.965+1G>A

SNV
Germline

Chr4:183679487

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

CA358862508

rs_2476847103

1 SubmittersRCV003740837

NM_000070.3(CAPN3):c.1536+3A>G

SNV
Germline

Chr15:42402138

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA269844164

rs_939374091

1 SubmittersRCV003632777

NM_000070.3(CAPN3):c.956C>G (p.Pro319Arg)

SNV
Germline

Chr15:42392649

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391998759

rs_121434547

1 SubmittersRCV003632843

NM_001130987.2(DYSF):c.3167G>C (p.Arg1056Pro)

SNV
Germline

Chr2:71570680

Pathogenic

Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

CA347217058

rs_150877497

2 SubmittersRCV003738749 RCV005602080

NM_001267550.2(TTN):c.6846T>A (p.Tyr2282Ter)

SNV
Germline

Chr2:178774418

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349681698

rs_1397187132

1 SubmittersRCV003785559

NM_001267550.2(TTN):c.56933C>G (p.Ser18978Ter)

SNV
Germline

Chr2:178598777

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349525329

rs_1338637317

1 SubmittersRCV003785572

NM_001267550.2(TTN):c.13446T>G (p.Tyr4482Ter)

SNV
Germline

Chr2:178739787

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349607914

rs_1574070639

1 SubmittersRCV003783531

NM_001077365.2(POMT1):c.856-2A>G

SNV
Germline

Chr9:131511335

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Single Submitter

CA5293471

rs_199927735

1 SubmittersRCV003783725

NM_001267550.2(TTN):c.6790+1G>T

SNV
Germline

Chr2:178774920

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349681966

rs_2532776079

2 SubmittersRCV003781838 RCV004767462

NM_001267550.2(TTN):c.98992A>T (p.Lys32998Ter)

SNV
Germline

Chr2:178538837

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349431193

rs_747243608

3 SubmittersRCV003782043 RCV005412596 RCV005774640

NM_201384.3(PLEC):c.7425+1G>A

SNV
Germline

Chr8:143922503

Pathogenic

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

CA4925659

rs_782284724

1 SubmittersRCV003797813

NM_001077365.2(POMT1):c.1951C>T (p.Gln651Ter)

SNV
Germline

Chr9:131522172

Pathogenic

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Single Submitter

CA375314576

rs_2539477272

1 SubmittersRCV003798174

NM_001267550.2(TTN):c.94437T>G (p.Tyr31479Ter)

SNV
Germline

Chr2:178547088

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349473936

rs_1697532441

2 SubmittersRCV003796002 RCV005414711

NM_001267550.2(TTN):c.72816C>A (p.Cys24272Ter)

SNV
Germline

Chr2:178573316

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349645353

rs_2468579514

1 SubmittersRCV003782920

NM_001267550.2(TTN):c.28049C>A (p.Ser9350Ter)

SNV
Germline

Chr2:178711187

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349441327

rs_2528811007

2 SubmittersRCV003782959 RCV005412593

NM_001267550.2(TTN):c.75080G>A (p.Trp25027Ter)

SNV
Germline

Chr2:178571052

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349629146

rs_2468476344

1 SubmittersRCV003782968

NM_013382.7(POMT2):c.2147+1G>A

SNV
Germline

Chr14:77278393

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390513271

rs_2503151447

1 SubmittersRCV003782992

NM_001267550.2(TTN):c.69325G>T (p.Glu23109Ter)

SNV
Germline

Chr2:178577010

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA61004357

rs_727503571

1 SubmittersRCV003783059

NM_001077365.2(POMT1):c.427G>A (p.Glu143Lys)

SNV
Germline

Chr9:131507514

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA5293260

rs_777149559

1 SubmittersRCV003780596

NM_001267550.2(TTN):c.89077C>T (p.Gln29693Ter)

SNV
Germline

Chr2:178554034

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349521162

rs_2469351716

2 SubmittersRCV003783302 RCV004366510

NM_001267550.2(TTN):c.61290T>A (p.Cys20430Ter)

SNV
Germline

Chr2:178590435

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349474056

rs_2049960403

1 SubmittersRCV003780987

NM_213599.3(ANO5):c.1553G>A (p.Gly518Glu)

SNV
Germline

Chr11:22259664

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379922278

rs_201463445

1 SubmittersRCV003783561

NM_001267550.2(TTN):c.106531G>C (p.Ala35511Pro)

SNV
Germline

Chr2:178529960

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA1985093

rs_768786354

1 SubmittersRCV003781364

NM_213599.3(ANO5):c.1671C>T (p.Thr557=)

SNV
Germline

Chr11:22262169

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA218767948

rs_1029543909

2 SubmittersRCV003781500 RCV005000026

NM_017739.4(POMGNT1):c.932G>C (p.Arg311Pro)

SNV
Germline

Chr1:46193873

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA833568

rs_193919336

1 SubmittersRCV003781525

NM_013382.7(POMT2):c.816+1G>T

SNV
Germline

Chr14:77301089

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Multiple Submitters
No Conflicts

CA390520069

rs_1206233497

2 SubmittersRCV003789751

NM_001267550.2(TTN):c.29542C>T (p.Arg9848Ter)

SNV
Germline

Chr2:178705236

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349580378

rs_2475280421

1 SubmittersRCV003789865

NM_001267550.2(TTN):c.48181G>T (p.Glu16061Ter)

SNV
Germline

Chr2:178616610

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349611796

rs_2470808380

1 SubmittersRCV003789921

NM_001267550.2(TTN):c.35602C>T (p.Gln11868Ter)

SNV
Germline

Chr2:178667665

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349509763

rs_2473203258

1 SubmittersRCV003795506

NM_001267550.2(TTN):c.39711A>G (p.Val13237=)

SNV
Germline

Chr2:178650270

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

CA430104979

rs_2472288529

2 SubmittersRCV003795660 RCV004701832

NM_013382.7(POMT2):c.1577T>A (p.Leu526Ter)

SNV
Germline

Chr14:77283873

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390516515

rs_1890320711

1 SubmittersRCV003793154

NM_001077365.2(POMT1):c.1825+2T>C

SNV
Germline

Chr9:131521474

Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Single Submitter

CA375314059

rs_2539455086

1 SubmittersRCV003793280

NM_001267550.2(TTN):c.104863T>G (p.Cys34955Gly)

SNV
Germline

Chr2:178531752

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
not specified

Criteria Provided
Conflicting Classifications

CA1985344

rs_768740635

2 SubmittersRCV003793304 RCV005406058

NM_001267550.2(TTN):c.51913A>T (p.Lys17305Ter)

SNV
Germline

Chr2:178609397

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349579311

rs_2470387049

1 SubmittersRCV003793340

NM_001267550.2(TTN):c.41406C>A (p.Cys13802Ter)

SNV
Germline

Chr2:178636165

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349660229

rs_749356221

1 SubmittersRCV003779398

NM_001267550.2(TTN):c.101187T>A (p.Cys33729Ter)

SNV
Germline

Chr2:178535428

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349421380

rs_772513660

1 SubmittersRCV003779495

NM_001267550.2(TTN):c.56050+1G>A

SNV
Germline

Chr2:178600853

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349535424

rs_1401183537

1 SubmittersRCV003780107

NM_001267550.2(TTN):c.9553G>T (p.Glu3185Ter)

SNV
Germline

Chr2:178766531

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349674902

rs_2532273575

1 SubmittersRCV003780136

NM_001267550.2(TTN):c.59926+1G>C

SNV
Germline

Chr2:178591977

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349488660

rs_553526525

2 SubmittersRCV003780137 RCV004765002

NM_001267550.2(TTN):c.70701T>A (p.Tyr23567Ter)

SNV
Germline

Chr2:178575431

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349661774

rs_2468678181

1 SubmittersRCV003782695

NM_001267550.2(TTN):c.47112G>A (p.Trp15704Ter)

SNV
Germline

Chr2:178618346

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349619791

rs_2470897843

2 SubmittersRCV003782696 RCV004765003

NM_001267550.2(TTN):c.67057+1G>A

SNV
Germline

Chr2:178580321

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349424668

rs_2468924341

1 SubmittersRCV003782722

NM_001267550.2(TTN):c.11831T>A (p.Leu3944Ter)

SNV
Germline

Chr2:178741402

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349619003

rs_2530718128

3 SubmittersRCV003780367 RCV005301366 RCV006264143

NM_001267550.2(TTN):c.30683-1G>A

SNV
Germline

Chr2:178698915

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349566781

rs_74864455

1 SubmittersRCV003788760

NM_001267550.2(TTN):c.52332T>G (p.Arg17444=)

SNV
Germline

Chr2:178608679

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1994017

rs_373423993

2 SubmittersRCV003788763 RCV004992822

NM_001267550.2(TTN):c.40297+1G>A

SNV
Germline

Chr2:178646484

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349440061

rs_568585511

1 SubmittersRCV003788869

NM_001077365.2(POMT1):c.7G>T (p.Gly3Ter)

SNV
Germline

Chr9:131504225

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA375305029

rs_371821873

1 SubmittersRCV003789429

NM_001267550.2(TTN):c.40057+1G>C

SNV
Germline

Chr2:178649247

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349445560

rs_1221769715

1 SubmittersRCV003787363

NM_001267550.2(TTN):c.35308+1G>A

SNV
Germline

Chr2:178671089

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349515182

rs_1423135750

1 SubmittersRCV003787469

NM_001101426.4(CRPPA):c.337C>T (p.Gln113Ter)

SNV
Germline

Chr7:16406258

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U

Criteria Provided
Single Submitter

CA4169631

rs_748007203

1 SubmittersRCV003787526

NM_001267550.2(TTN):c.7057+1G>C

SNV
Germline

Chr2:178774206

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349681118

rs_763909866

1 SubmittersRCV003792837

NM_001267550.2(TTN):c.45349+1G>T

SNV
Germline

Chr2:178621474

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349635032

rs_2154211977

1 SubmittersRCV003792856

NM_001267550.2(TTN):c.14092+1G>A

SNV
Germline

Chr2:178739140

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349604661

rs_2530589290

1 SubmittersRCV003792857

NM_017739.4(POMGNT1):c.538G>T (p.Glu180Ter)

SNV
Germline

Chr1:46194958

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340187515

rs_1176339464

1 SubmittersRCV003792961

NM_001267550.2(TTN):c.102541G>T (p.Glu34181Ter)

SNV
Germline

Chr2:178534074

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349417307

rs_1559033148

1 SubmittersRCV003790339

NM_001267550.2(TTN):c.76355G>A (p.Trp25452Ter)

SNV
Germline

Chr2:178569777

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349615782

rs_2468420275

2 SubmittersRCV003790449 RCV004721223

NM_213599.3(ANO5):c.1451G>A (p.Arg484His)

SNV
Germline

Chr11:22259562

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379922057

rs_2494305988

1 SubmittersRCV003787818

NM_001267550.2(TTN):c.43087-9T>C

SNV
Germline

Chr2:178633053

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
6 conditions

Criteria Provided
Conflicting Classifications

CA2577171488

rs_1414971683

2 SubmittersRCV003788100 RCV005030263

NM_001267550.2(TTN):c.66460C>T (p.Gln22154Ter)

SNV
Germline

Chr2:178581909

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349429094

rs_2469006402

1 SubmittersRCV003786093

NM_001267550.2(TTN):c.32470+1G>T

SNV
Germline

Chr2:178685252

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349547745

rs_2474204665

1 SubmittersRCV003786189

NM_001267550.2(TTN):c.105655C>T (p.Gln35219Ter)

SNV
Germline

Chr2:178530960

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349408207

rs_2468390355

1 SubmittersRCV003786586

NM_213599.3(ANO5):c.13G>A (p.Asp5Asn)

SNV
Germline

Chr11:22193505

Conflicting classifications of pathogenicity

Inborn genetic diseases
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5922737

rs_773048192

2 SubmittersRCV004366562 RCV003787331

NM_001267550.2(TTN):c.48521T>G (p.Leu16174Ter)

SNV
Germline

Chr2:178615424

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349609249

rs_2470738026

1 SubmittersRCV003798212

NM_013382.7(POMT2):c.227T>A (p.Leu76Ter)

SNV
Germline

Chr14:77320455

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Single Submitter

CA390504318

rs_1349494437

1 SubmittersRCV003796418

NM_201384.3(PLEC):c.2178+2T>G

SNV
Germline

Chr8:143931935

Likely pathogenic

Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type

Criteria Provided
Single Submitter

CA372576668

rs_1554715907

1 SubmittersRCV003796534

NM_213599.3(ANO5):c.88-1G>A

SNV
Germline

Chr11:22211263

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

CA379923524

rs_2494790954

1 SubmittersRCV003793910

NM_013382.7(POMT2):c.2064T>A (p.Cys688Ter)

SNV
Germline

Chr14:77278477

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390513589

rs_2503152623

1 SubmittersRCV003793971

NM_001267550.2(TTN):c.89342G>A (p.Trp29781Ter)

SNV
Germline

Chr2:178553663

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349519146

rs_2469336053

2 SubmittersRCV003794038 RCV006249902

NM_001267550.2(TTN):c.58799G>A (p.Trp19600Ter)

SNV
Germline

Chr2:178593409

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA60971340

rs_865994024

1 SubmittersRCV003791596

NM_001267550.2(TTN):c.9472-1G>C

SNV
Germline

Chr2:178766613

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349675088

rs_2090472968

1 SubmittersRCV003794224

NM_017739.4(POMGNT1):c.1835G>A (p.Trp612Ter)

SNV
Germline

Chr1:46189518

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA340170943

rs_2525336107

2 SubmittersRCV003791954 RCV004573327

NM_001267550.2(TTN):c.5601C>A (p.Tyr1867Ter)

SNV
Germline

Chr2:178776263

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349449918

rs_2532861633

1 SubmittersRCV003794626

NM_001267550.2(TTN):c.48433G>T (p.Glu16145Ter)

SNV
Germline

Chr2:178615668

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349609600

rs_2154206912

1 SubmittersRCV003794676

NM_201384.3(PLEC):c.2917G>T (p.Glu973Ter)

SNV
Germline

Chr8:143929652

Pathogenic

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Single Submitter

CA372570606

rs_2538506282

1 SubmittersRCV003792269

NM_001267550.2(TTN):c.28753+1G>A

SNV
Germline

Chr2:178709565

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA1999539

rs_774225594

1 SubmittersRCV003792362

NM_001267550.2(TTN):c.33892G>T (p.Glu11298Ter)

SNV
Germline

Chr2:178678432

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349532312

rs_2473825959

1 SubmittersRCV003792376

NM_001267550.2(TTN):c.104242G>T (p.Glu34748Ter)

SNV
Germline

Chr2:178532373

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349412169

rs_2468448766

1 SubmittersRCV003792377

NM_001267550.2(TTN):c.90915C>G (p.Tyr30305Ter)

SNV
Germline

Chr2:178551985

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349505641

rs_748302876

1 SubmittersRCV003792418

NM_001267550.2(TTN):c.2943C>A (p.Tyr981Ter)

SNV
Germline

Chr2:178782963

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349491399

rs_2533377067

1 SubmittersRCV003792545

NM_001267550.2(TTN):c.92152+1G>C

SNV
Germline

Chr2:178549569

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349494362

rs_2469168148

1 SubmittersRCV003807792

NM_001267550.2(TTN):c.97192+1G>C

SNV
Germline

Chr2:178542661

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349441902

rs_2468899667

1 SubmittersRCV003807867

NM_001267550.2(TTN):c.81199C>T (p.Gln27067Ter)

SNV
Germline

Chr2:178564933

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349582717

rs_1315059139

2 SubmittersRCV003807877 RCV005220767

NM_001267550.2(TTN):c.107204G>A (p.Trp35735Ter)

SNV
Germline

Chr2:178528547

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA60950110

rs_944284466

1 SubmittersRCV003807935

NM_001267550.2(TTN):c.48760+1G>C

SNV
Germline

Chr2:178614846

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349608128

rs_1474000709

1 SubmittersRCV003808042

NM_001267550.2(TTN):c.3417C>A (p.Cys1139Ter)

SNV
Germline

Chr2:178781227

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349483598

rs_2533253534

1 SubmittersRCV003808043

NM_001267550.2(TTN):c.101757T>G (p.Tyr33919Ter)

SNV
Germline

Chr2:178534858

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349419643

rs_1690729997

1 SubmittersRCV003808094

NM_001267550.2(TTN):c.62409G>A (p.Trp20803Ter)

SNV
Germline

Chr2:178589316

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349464896

rs_2469387223

1 SubmittersRCV003806086

NM_001267550.2(TTN):c.53182G>T (p.Glu17728Ter)

SNV
Germline

Chr2:178607506

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349567579

rs_2470292240

1 SubmittersRCV003808266

NM_001267550.2(TTN):c.62184C>A (p.Tyr20728Ter)

SNV
Germline

Chr2:178589541

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349465641

rs_2469398533

1 SubmittersRCV003808276

NM_001267550.2(TTN):c.99366C>A (p.Cys33122Ter)

SNV
Germline

Chr2:178537841

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349428728

rs_762528879

1 SubmittersRCV003808302

NM_001267550.2(TTN):c.103021G>T (p.Glu34341Ter)

SNV
Germline

Chr2:178533594

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349415472

rs_2468499757

1 SubmittersRCV003808308

NM_001267550.2(TTN):c.46429+2T>C

SNV
Germline

Chr2:178619986

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349626530

rs_1367341478

1 SubmittersRCV003808351

NM_001267550.2(TTN):c.1801-2A>G

SNV
Germline

Chr2:178790117

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349507485

rs_2093410241

1 SubmittersRCV003806433

NM_001267550.2(TTN):c.13446T>A (p.Tyr4482Ter)

SNV
Germline

Chr2:178739787

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349607916

rs_1574070639

1 SubmittersRCV003806620

NM_001267550.2(TTN):c.22427T>A (p.Leu7476Ter)

SNV
Germline

Chr2:178722360

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349526275

rs_1330405287

1 SubmittersRCV003804421

NM_001267550.2(TTN):c.45495T>G (p.Tyr15165Ter)

SNV
Germline

Chr2:178621223

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349633949

rs_2471038111

1 SubmittersRCV003804429

NM_001267550.2(TTN):c.99493C>T (p.Gln33165Ter)

SNV
Germline

Chr2:178537714

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349428221

rs_2468681856

1 SubmittersRCV003791108

NM_001267550.2(TTN):c.43214-2A>G

SNV
Germline

Chr2:178632794

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349651789

rs_2471477845

1 SubmittersRCV003793707

NM_013382.7(POMT2):c.548-2A>G

SNV
Germline

Chr14:77302945

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Criteria Provided
Single Submitter

CA390520658

rs_1343361571

1 SubmittersRCV003791188

NM_001267550.2(TTN):c.31762+1G>T

SNV
Germline

Chr2:178692015

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349558819

rs_2072577011

1 SubmittersRCV003791384

NM_001267550.2(TTN):c.42897T>A (p.Tyr14299Ter)

SNV
Germline

Chr2:178633462

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349653424

rs_2471509536

1 SubmittersRCV003805428

NM_001267550.2(TTN):c.81059G>A (p.Trp27020Ter)

SNV
Germline

Chr2:178565073

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349584078

rs_2468231180

1 SubmittersRCV003805429

NM_001267550.2(TTN):c.75139G>T (p.Glu25047Ter)

SNV
Germline

Chr2:178570993

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349628688

rs_1707989337

1 SubmittersRCV003805501

NM_001267550.2(TTN):c.2907C>A (p.Tyr969Ter)

SNV
Germline

Chr2:178782999

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349491783

rs_2533378945

1 SubmittersRCV003805660

NM_001267550.2(TTN):c.49666G>T (p.Gly16556Ter)

SNV
Germline

Chr2:178613055

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349601559

rs_1193616870

1 SubmittersRCV003805716

NM_001267550.2(TTN):c.46723C>T (p.Gln15575Ter)

SNV
Germline

Chr2:178618827

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349622632

rs_2470918466

1 SubmittersRCV003805899

NM_001267550.2(TTN):c.72661G>T (p.Gly24221Ter)

SNV
Germline

Chr2:178573471

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349646151

rs_2468587162

1 SubmittersRCV003805911

NM_001267550.2(TTN):c.27976G>T (p.Gly9326Ter)

SNV
Germline

Chr2:178711260

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349442308

rs_2528816473

1 SubmittersRCV003805937

NM_001267550.2(TTN):c.92-1G>A

SNV
Germline

Chr2:178802342

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349531815

rs_2534472226

1 SubmittersRCV003806022

NM_001267550.2(TTN):c.103354C>T (p.Gln34452Ter)

SNV
Germline

Chr2:178533261

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349414461

rs_1182227611

1 SubmittersRCV003806038

NM_001267550.2(TTN):c.80578G>T (p.Gly26860Ter)

SNV
Germline

Chr2:178565554

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349587727

rs_1184082030

1 SubmittersRCV003803721

NM_001267550.2(TTN):c.43214-1G>C

SNV
Germline

Chr2:178632793

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349651782

rs_2471477797

1 SubmittersRCV003803909

NM_001267550.2(TTN):c.74569C>T (p.Gln24857Ter)

SNV
Germline

Chr2:178571563

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349633085

rs_766557412

1 SubmittersRCV003803973

NM_001267550.2(TTN):c.87848T>G (p.Leu29283Ter)

SNV
Germline

Chr2:178557414

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349533830

rs_2469527431

1 SubmittersRCV003803979

NM_001267550.2(TTN):c.21683-2A>G

SNV
Germline

Chr2:178723326

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349532545

rs_2529549823

1 SubmittersRCV003803986

NM_201384.3(PLEC):c.12517G>T (p.Glu4173Ter)

SNV
Germline

Chr8:143917304

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

CA372481186

rs_868975952

1 SubmittersRCV003806284

NM_001267550.2(TTN):c.2371-2A>G

SNV
Germline

Chr2:178785744

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349499375

rs_2533541249

1 SubmittersRCV003806303

NM_001267550.2(TTN):c.48606G>A (p.Trp16202Ter)

SNV
Germline

Chr2:178615339

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349608873

rs_2470732349

2 SubmittersRCV003801579 RCV005407259

NM_001267550.2(TTN):c.7331-1G>A

SNV
Germline

Chr2:178773726

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349680524

rs_2532683368

1 SubmittersRCV003801601

NM_001267550.2(TTN):c.35974A>T (p.Lys11992Ter)

SNV
Germline

Chr2:178665446

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349504460

rs_2065761154

1 SubmittersRCV003804240

NM_001267550.2(TTN):c.3396C>A (p.Tyr1132Ter)

SNV
Germline

Chr2:178781248

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349483831

rs_1343243319

1 SubmittersRCV003804262

NM_001267550.2(TTN):c.87106A>T (p.Lys29036Ter)

SNV
Germline

Chr2:178558353

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349539214

rs_2469568618

1 SubmittersRCV003804316

NM_201384.3(PLEC):c.3973G>T (p.Glu1325Ter)

SNV
Germline

Chr8:143926855

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

CA372563374

rs_782178037

1 SubmittersRCV003804373

NM_001267550.2(TTN):c.71619G>A (p.Trp23873Ter)

SNV
Germline

Chr2:178574513

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349652182

rs_2468633800

1 SubmittersRCV003798513

NM_001267550.2(TTN):c.29914C>T (p.Arg9972Ter)

SNV
Germline

Chr2:178704558

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349577098

rs_1319501039

1 SubmittersRCV003790686

NM_213599.3(ANO5):c.1179G>A (p.Trp393Ter)

SNV
Germline

Chr11:22251010

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

CA379921328

rs_2494261394

1 SubmittersRCV003790822

NM_017739.4(POMGNT1):c.120+1G>A

SNV
Germline

Chr1:46197701

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340192541

rs_1658353990

1 SubmittersRCV003791124

NM_001267550.2(TTN):c.53280A>G (p.Glu17760=)

SNV
Germline

Chr2:178607408

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA430270626

rs_2470287266

2 SubmittersRCV003797110 RCV004366617

NM_001267550.2(TTN):c.46596G>A (p.Lys15532=)

SNV
Germline

Chr2:178619721

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430111669

rs_2470971480

2 SubmittersRCV003799332 RCV005637063

NM_001267550.2(TTN):c.56962+1G>A

SNV
Germline

Chr2:178598747

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349524940

rs_2469860660

2 SubmittersRCV003799672 RCV004676286

NM_213599.3(ANO5):c.878+1G>A

SNV
Germline

Chr11:22239685

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379920621

rs_1853361649

1 SubmittersRCV003799705

NM_001267550.2(TTN):c.8903-2A>T

SNV
Germline

Chr2:178768935

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349676347

rs_2532406862

1 SubmittersRCV003802880

NM_001267550.2(TTN):c.20836+1G>T

SNV
Germline

Chr2:178725367

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349540430

rs_1553915256

1 SubmittersRCV003802887

NM_201384.3(PLEC):c.4534C>T (p.Gln1512Ter)

SNV
Germline

Chr8:143925395

Pathogenic

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Single Submitter

CA372555718

rs_1424946706

1 SubmittersRCV003802892

NM_001267550.2(TTN):c.12451C>T (p.Gln4151Ter)

SNV
Germline

Chr2:178740782

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349615065

rs_1279793527

1 SubmittersRCV003802994

NM_001267550.2(TTN):c.6377G>A (p.Trp2126Ter)

SNV
Germline

Chr2:178775487

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349440221

rs_184312157

1 SubmittersRCV003803046

NM_001267550.2(TTN):c.1381C>T (p.Gln461Ter)

SNV
Germline

Chr2:178794416

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349515370

rs_2534048550

1 SubmittersRCV003805282

NM_001267550.2(TTN):c.36202+1G>A

SNV
Germline

Chr2:178664653

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349500661

rs_758622001

1 SubmittersRCV003805314

NM_001267550.2(TTN):c.47573-1G>A

SNV
Germline

Chr2:178617513

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349614401

rs_2470853390

1 SubmittersRCV003805336

NM_001267550.2(TTN):c.46430-2A>G

SNV
Germline

Chr2:178619889

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349626445

rs_2470977242

1 SubmittersRCV003800587

NM_001267550.2(TTN):c.56052C>A (p.Cys18684Ter)

SNV
Germline

Chr2:178599849

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60976857

rs_868477630

1 SubmittersRCV003800601

NM_001267550.2(TTN):c.79924G>T (p.Gly26642Ter)

SNV
Germline

Chr2:178566208

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349592798

rs_1559348938

1 SubmittersRCV003803099

NM_001267550.2(TTN):c.57277C>T (p.Gln19093Ter)

SNV
Germline

Chr2:178597805

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349522031

rs_2469805793

1 SubmittersRCV003803185

NM_001267550.2(TTN):c.66800T>A (p.Leu22267Ter)

SNV
Germline

Chr2:178580579

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349425980

rs_2468935104

1 SubmittersRCV003803349

NM_001077365.2(POMT1):c.1458G>A (p.Trp486Ter)

SNV
Germline

Chr9:131518929

Pathogenic

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Single Submitter

CA375312055

rs_1949320441

1 SubmittersRCV003803374

NM_001267550.2(TTN):c.1536+1G>T

SNV
Germline

Chr2:178793403

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349512386

rs_2093614668

1 SubmittersRCV003803419

NM_001077365.2(POMT1):c.1273-2A>G

SNV
Germline

Chr9:131518443

Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Single Submitter

CA375311038

rs_2539363727

1 SubmittersRCV003800866

NM_001267550.2(TTN):c.43655C>A (p.Ser14552Ter)

SNV
Germline

Chr2:178632239

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349649542

rs_1454698596

1 SubmittersRCV003800906

NM_001267550.2(TTN):c.39625+1G>C

SNV
Germline

Chr2:178651242

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349453654

rs_970681023

1 SubmittersRCV003801066

NM_001267550.2(TTN):c.64093+1G>A

SNV
Germline

Chr2:178587117

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349445885

rs_2469275342

1 SubmittersRCV003801106

NM_001267550.2(TTN):c.5797G>T (p.Glu1933Ter)

SNV
Germline

Chr2:178776067

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349447150

rs_769734824

1 SubmittersRCV003803617

NM_001267550.2(TTN):c.21404-1G>C

SNV
Germline

Chr2:178723697

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349534992

rs_1433170500

1 SubmittersRCV003803641

NM_001267550.2(TTN):c.43213+1G>T

SNV
Germline

Chr2:178632917

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349651823

rs_2059978690

1 SubmittersRCV003803672

NM_001267550.2(TTN):c.98098+1G>T

SNV
Germline

Chr2:178540067

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349434865

rs_2468790570

1 SubmittersRCV003809152

NM_201384.3(PLEC):c.12201C>G (p.Tyr4067Ter)

SNV
Germline

Chr8:143917620

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

CA372485322

rs_1586765219

1 SubmittersRCV003801149

NM_001267550.2(TTN):c.39212-1G>A

SNV
Germline

Chr2:178652180

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349460102

rs_757200738

1 SubmittersRCV003801291

NM_001267550.2(TTN):c.68225-1G>A

SNV
Germline

Chr2:178578716

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349673338

rs_1575854773

1 SubmittersRCV003801420

NM_001267550.2(TTN):c.22321C>T (p.Arg7441Ter)

SNV
Germline

Chr2:178722466

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA2000853

rs_746136883

1 SubmittersRCV003801458

NM_001267550.2(TTN):c.82909A>T (p.Lys27637Ter)

SNV
Germline

Chr2:178563223

Likely pathogenic

TTN-related disorder
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349570707

rs_2468154010

3 SubmittersRCV004736407 RCV003801488 RCV005301383

NM_001267550.2(TTN):c.53914C>T (p.Arg17972Ter)

SNV
Germline

Chr2:178605263

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349557603

rs_748278337

1 SubmittersRCV003796663

NM_001267550.2(TTN):c.93853A>T (p.Arg31285Ter)

SNV
Germline

Chr2:178547773

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349480237

rs_2469105624

2 SubmittersRCV003796822 RCV004992852

NM_017739.4(POMGNT1):c.1111-1G>A

SNV
Germline

Chr1:46193216

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA833483

rs_764266244

1 SubmittersRCV003796896

NM_001267550.2(TTN):c.52405+2T>C

SNV
Germline

Chr2:178608604

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349574125

rs_2470347591

1 SubmittersRCV003796904

NM_001267550.2(TTN):c.22973C>A (p.Ser7658Ter)

SNV
Germline

Chr2:178721046

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349517594

rs_1553908254

1 SubmittersRCV003796905

NM_201384.3(PLEC):c.1675C>T (p.Arg559Ter)

SNV
Germline

Chr8:143932855

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA372579465

rs_1827804297

2 SubmittersRCV003796916 RCV005637062

NM_001267550.2(TTN):c.102526C>T (p.Gln34176Ter)

SNV
Germline

Chr2:178534089

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349417342

rs_2468520945

1 SubmittersRCV003797007

NM_201384.3(PLEC):c.6370C>T (p.Gln2124Ter)

SNV
Germline

Chr8:143923559

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

CA372535069

rs_1282317175

1 SubmittersRCV003794962

NM_001267550.2(TTN):c.17482G>T (p.Glu5828Ter)

SNV
Germline

Chr2:178731183

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349572444

rs_2080414407

1 SubmittersRCV003797260

NM_001267550.2(TTN):c.29695-1G>T

SNV
Germline

Chr2:178704778

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349579406

rs_2475232041

1 SubmittersRCV003802596

NM_013382.7(POMT2):c.1495C>T (p.Gln499Ter)

SNV
Germline

Chr14:77285031

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390517137

rs_2503193443

1 SubmittersRCV003802661

NM_001267550.2(TTN):c.83739C>A (p.Cys27913Ter)

SNV
Germline

Chr2:178562393

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349564645

rs_2469726375

1 SubmittersRCV003802727

NM_001267550.2(TTN):c.103620T>G (p.Tyr34540Ter)

SNV
Germline

Chr2:178532995

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349413879

rs_1220348139

1 SubmittersRCV003802728

NM_001267550.2(TTN):c.74074C>T (p.Gln24692Ter)

SNV
Germline

Chr2:178572058

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349635880

rs_2468519909

1 SubmittersRCV003800191

NM_001267550.2(TTN):c.49049-2A>C

SNV
Germline

Chr2:178614350

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349606840

rs_2470658624

1 SubmittersRCV003800295

NM_001267550.2(TTN):c.3717T>G (p.Tyr1239Ter)

SNV
Germline

Chr2:178780012

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349481865

rs_778331308

1 SubmittersRCV003800299

NM_017739.4(POMGNT1):c.1110+1G>T

SNV
Germline

Chr1:46193304

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340179683

rs_1657940058

1 SubmittersRCV003800305

NM_001267550.2(TTN):c.77902G>T (p.Glu25968Ter)

SNV
Germline

Chr2:178568230

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349604252

rs_756933390

1 SubmittersRCV003800333

NM_001267550.2(TTN):c.85790G>A (p.Trp28597Ter)

SNV
Germline

Chr2:178560342

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349547917

rs_2469653020

1 SubmittersRCV003800532

NM_001267550.2(TTN):c.102549C>A (p.Tyr34183Ter)

SNV
Germline

Chr2:178534066

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349417288

rs_761394437

1 SubmittersRCV003808542

NM_001267550.2(TTN):c.35630-1G>A

SNV
Germline

Chr2:178667526

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349509502

rs_2154262004

1 SubmittersRCV003808567

NM_001267550.2(TTN):c.6497T>G (p.Leu2166Ter)

SNV
Germline

Chr2:178775367

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349682702

rs_2532811159

1 SubmittersRCV003800669

NM_001267550.2(TTN):c.89307T>G (p.Tyr29769Ter)

SNV
Germline

Chr2:178553698

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349519374

rs_2469337078

1 SubmittersRCV003800765

NM_001267550.2(TTN):c.25064-2A>G

SNV
Germline

Chr2:178717812

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349489929

rs_2529225314

1 SubmittersRCV003800786

NM_001267550.2(TTN):c.47639G>A (p.Trp15880Ter)

SNV
Germline

Chr2:178617446

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349614030

rs_2470851448

1 SubmittersRCV003808757

NM_001267550.2(TTN):c.70270A>T (p.Lys23424Ter)

SNV
Germline

Chr2:178575862

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349663680

rs_2468700357

1 SubmittersRCV003808894

NM_001267550.2(TTN):c.53041G>T (p.Gly17681Ter)

SNV
Germline

Chr2:178607647

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349568696

rs_2055221235

1 SubmittersRCV003807187

NM_001267550.2(TTN):c.96525C>G (p.Tyr32175Ter)

SNV
Germline

Chr2:178543448

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349447685

rs_778126823

1 SubmittersRCV003807189

NM_001101426.4(CRPPA):c.377G>A (p.Arg126His)

SNV
Germline

Chr7:16406218

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Autosomal recessive limb-girdle muscular dystrophy type 2U
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4169619

rs_752817129

3 SubmittersRCV003809241 RCV005637068

NM_001267550.2(TTN):c.87816T>A (p.Tyr29272Ter)

SNV
Germline

Chr2:178557446

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349534100

rs_2469528595

1 SubmittersRCV003809283

NM_001267550.2(TTN):c.99865+1G>T

SNV
Germline

Chr2:178537341

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349427281

rs_2468668042

2 SubmittersRCV003809359 RCV005631248

NM_001267550.2(TTN):c.94827C>G (p.Tyr31609Ter)

SNV
Germline

Chr2:178546601

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349469877

rs_771635198

1 SubmittersRCV003809380

NM_001267550.2(TTN):c.69613C>T (p.Gln23205Ter)

SNV
Germline

Chr2:178576631

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349667324

rs_2468739970

1 SubmittersRCV003804709

NM_001267550.2(TTN):c.62477C>G (p.Ser20826Ter)

SNV
Germline

Chr2:178589248

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349464720

rs_2469384035

1 SubmittersRCV003804793

NM_001267550.2(TTN):c.99256A>T (p.Arg33086Ter)

SNV
Germline

Chr2:178538573

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349430611

rs_2468727653

1 SubmittersRCV003801816

NM_001267550.2(TTN):c.89307T>A (p.Tyr29769Ter)

SNV
Germline

Chr2:178553698

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349519382

rs_2469337078

1 SubmittersRCV003801880

NM_001267550.2(TTN):c.52706-1G>T

SNV
Germline

Chr2:178608082

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349571584

rs_2055351447

1 SubmittersRCV003801939

NM_001267550.2(TTN):c.86676G>A (p.Trp28892Ter)

SNV
Germline

Chr2:178559456

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349542199

rs_779407441

1 SubmittersRCV003801968

NM_001267550.2(TTN):c.99362C>G (p.Ser33121Ter)

SNV
Germline

Chr2:178537845

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349428743

rs_2468687187

1 SubmittersRCV003801980

NM_001267550.2(TTN):c.78924G>A (p.Trp26308Ter)

SNV
Germline

Chr2:178567208

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349600575

rs_1485556692

1 SubmittersRCV003801998

NM_201384.3(PLEC):c.2623C>T (p.Gln875Ter)

SNV
Germline

Chr8:143930052

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

CA4927432

rs_782643774

1 SubmittersRCV003802041

NM_001267550.2(TTN):c.73522A>T (p.Lys24508Ter)

SNV
Germline

Chr2:178572610

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349638698

rs_2468545550

1 SubmittersRCV003804551

NM_001267550.2(TTN):c.12251T>G (p.Leu4084Ter)

SNV
Germline

Chr2:178740982

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349615928

rs_2530693208

1 SubmittersRCV003804552

NM_001267550.2(TTN):c.102205C>T (p.Gln34069Ter)

SNV
Germline

Chr2:178534410

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349418137

rs_2468534298

1 SubmittersRCV003804635

NM_001267550.2(TTN):c.47761-2A>T

SNV
Germline

Chr2:178617236

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349613457

rs_2470840049

1 SubmittersRCV003810108

NM_001267550.2(TTN):c.92519T>G (p.Leu30840Ter)

SNV
Germline

Chr2:178549107

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349492972

rs_1466809738

1 SubmittersRCV003802285

NM_001267550.2(TTN):c.55432+1G>T

SNV
Germline

Chr2:178601657

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349541415

rs_2053485503

1 SubmittersRCV003802449

NM_213599.3(ANO5):c.1181-1G>A

SNV
Germline

Chr11:22255370

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

CA379921343

rs_1853966406

1 SubmittersRCV003817708

NM_001267550.2(TTN):c.49700C>A (p.Ser16567Ter)

SNV
Germline

Chr2:178613021

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349601420

rs_1553699802

1 SubmittersRCV003817912

NM_001267550.2(TTN):c.52405+1G>T

SNV
Germline

Chr2:178608605

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349574129

rs_2470347675

1 SubmittersRCV003817917

NM_001267550.2(TTN):c.62302A>T (p.Lys20768Ter)

SNV
Germline

Chr2:178589423

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349465237

rs_2469392477

1 SubmittersRCV003818051

NM_001267550.2(TTN):c.54856A>T (p.Lys18286Ter)

SNV
Germline

Chr2:178602546

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349547007

rs_2470053759

1 SubmittersRCV003813475

NM_001267550.2(TTN):c.96905-1G>A

SNV
Germline

Chr2:178542950

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349444461

rs_2468910291

2 SubmittersRCV003813481 RCV005301387

NM_001267550.2(TTN):c.47573-1G>C

SNV
Germline

Chr2:178617513

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349614399

rs_2470853390

1 SubmittersRCV003815691

NM_001267550.2(TTN):c.67058-1G>A

SNV
Germline

Chr2:178580230

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA1991370

rs_756715989

1 SubmittersRCV003809574

NM_001267550.2(TTN):c.10270C>T (p.Gln3424Ter)

SNV
Germline

Chr2:178759017

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349673061

rs_370865998

1 SubmittersRCV003809597

NM_201384.3(PLEC):c.9043A>G (p.Thr3015Ala)

SNV
Germline

Chr8:143920778

Conflicting classifications of pathogenicity

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4925099

rs_782319376

2 SubmittersRCV003801632 RCV004661782

NM_001267550.2(TTN):c.46966+1G>A

SNV
Germline

Chr2:178618583

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349621088

rs_2470908789

1 SubmittersRCV003801645

NM_001267550.2(TTN):c.90113C>G (p.Ser30038Ter)

SNV
Germline

Chr2:178552787

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349513738

rs_1035231480

1 SubmittersRCV003801730

NM_001267550.2(TTN):c.27714G>A (p.Trp9238Ter)

SNV
Germline

Chr2:178712116

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349448800

rs_2076743263

1 SubmittersRCV003809657

NM_001267550.2(TTN):c.95722+1G>C

SNV
Germline

Chr2:178545387

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA60971034

rs_112318053

1 SubmittersRCV003809678

NM_001267550.2(TTN):c.49048+1G>A

SNV
Germline

Chr2:178614465

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349606886

rs_2470671707

1 SubmittersRCV003809894

NM_001267550.2(TTN):c.57748C>T (p.Gln19250Ter)

SNV
Germline

Chr2:178595606

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349514849

rs_2469698122

1 SubmittersRCV003809896

NM_001267550.2(TTN):c.92604G>A (p.Trp30868Ter)

SNV
Germline

Chr2:178549022

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349492495

rs_2469149693

2 SubmittersRCV003809897 RCV004765006

NM_001267550.2(TTN):c.40489G>T (p.Glu13497Ter)

SNV
Germline

Chr2:178642306

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349664981

rs_2471895234

1 SubmittersRCV003809928

NM_017739.4(POMGNT1):c.1374C>G (p.Tyr458Ter)

SNV
Germline

Chr1:46192347

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340175101

rs_2525387215

1 SubmittersRCV003810004

NM_001267550.2(TTN):c.13340C>A (p.Ser4447Ter)

SNV
Germline

Chr2:178739893

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA349608383

rs_777547090

2 SubmittersRCV003810060 RCV004992866

NM_001267550.2(TTN):c.50094G>A (p.Trp16698Ter)

SNV
Germline

Chr2:178612431

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349599298

rs_2470540147

1 SubmittersRCV003810070

NM_001267550.2(TTN):c.4979T>G (p.Leu1660Ter)

SNV
Germline

Chr2:178776885

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349458466

rs_2532903182

1 SubmittersRCV003815222

NM_001267550.2(TTN):c.49533-2A>G

SNV
Germline

Chr2:178613278

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349602507

rs_2470583825

1 SubmittersRCV003815451

NM_001267550.2(TTN):c.63845C>G (p.Ser21282Ter)

SNV
Germline

Chr2:178587366

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349448650

rs_2469287097

1 SubmittersRCV003815462

NM_001267550.2(TTN):c.62911G>T (p.Glu20971Ter)

SNV
Germline

Chr2:178588814

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349459109

rs_2469366209

1 SubmittersRCV003815510

NM_001267550.2(TTN):c.86911G>T (p.Gly28971Ter)

SNV
Germline

Chr2:178558548

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349540573

rs_368921501

1 SubmittersRCV003813025

NM_001267550.2(TTN):c.25219C>T (p.Gln8407Ter)

SNV
Germline

Chr2:178717655

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349487716

rs_2529217772

1 SubmittersRCV003813034

NM_001267550.2(TTN):c.48605G>A (p.Trp16202Ter)

SNV
Germline

Chr2:178615340

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349608874

rs_2470732425

1 SubmittersRCV003813050

NM_001267550.2(TTN):c.46816G>T (p.Glu15606Ter)

SNV
Germline

Chr2:178618734

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349622139

rs_2470914058

1 SubmittersRCV003813155

NM_001267550.2(TTN):c.54190+1G>T

SNV
Germline

Chr2:178604986

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349555277

rs_756339648

1 SubmittersRCV003813284

NM_001267550.2(TTN):c.32470+2T>C

SNV
Germline

Chr2:178685251

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349547739

rs_1577392897

1 SubmittersRCV003813305

NM_001267550.2(TTN):c.14310T>A (p.Tyr4770Ter)

SNV
Germline

Chr2:178738143

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349602050

rs_1332062788

1 SubmittersRCV003813314

NM_001267550.2(TTN):c.47988G>A (p.Trp15996Ter)

SNV
Germline

Chr2:178616901

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349612483

rs_2470822562

1 SubmittersRCV003813315

NM_001267550.2(TTN):c.48760+2T>C

SNV
Germline

Chr2:178614845

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349608122

rs_1576465489

1 SubmittersRCV003813361

NM_001267550.2(TTN):c.87118+1G>A

SNV
Germline

Chr2:178558340

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349539168

rs_2469567880

1 SubmittersRCV003813380

NM_001077365.2(POMT1):c.539+2T>C

SNV
Germline

Chr9:131509024

Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Single Submitter

CA375307117

rs_2539114783

1 SubmittersRCV003807309

NM_001267550.2(TTN):c.67994G>A (p.Trp22665Ter)

SNV
Germline

Chr2:178579036

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349422153

rs_2468865585

1 SubmittersRCV003807382

NM_017739.4(POMGNT1):c.94C>T (p.Gln32Ter)

SNV
Germline

Chr1:46197728

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340192699

rs_2525475799

1 SubmittersRCV003807470

NM_001267550.2(TTN):c.67833C>G (p.Tyr22611Ter)

SNV
Germline

Chr2:178579197

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349422865

rs_375538420

1 SubmittersRCV003807546

NM_001267550.2(TTN):c.6514C>T (p.Gln2172Ter)

SNV
Germline

Chr2:178775197

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349682653

rs_77675851

1 SubmittersRCV003807582

NM_001267550.2(TTN):c.84607A>T (p.Lys28203Ter)

SNV
Germline

Chr2:178561525

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349559068

rs_2469695739

1 SubmittersRCV003812484

NM_001267550.2(TTN):c.99487G>T (p.Glu33163Ter)

SNV
Germline

Chr2:178537720

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349428249

rs_2468682008

1 SubmittersRCV003812495

NM_001267550.2(TTN):c.43213+1G>A

SNV
Germline

Chr2:178632917

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349651825

rs_2059978690

1 SubmittersRCV003812518

NM_001267550.2(TTN):c.34258G>T (p.Glu11420Ter)

SNV
Germline

Chr2:178677654

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349529257

rs_2473776344

1 SubmittersRCV003812549

NM_001267550.2(TTN):c.501C>G (p.Tyr167Ter)

SNV
Germline

Chr2:178800477

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349527272

rs_2534364249

1 SubmittersRCV003812592

NM_001267550.2(TTN):c.65863+2T>A

SNV
Germline

Chr2:178582938

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349432306

rs_2469059412

1 SubmittersRCV003812633

NM_001267550.2(TTN):c.24811G>T (p.Glu8271Ter)

SNV
Germline

Chr2:178718195

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349496178

rs_2529245827

1 SubmittersRCV003812687

NM_001267550.2(TTN):c.105703A>T (p.Lys35235Ter)

SNV
Germline

Chr2:178530912

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349408047

rs_2468388434

1 SubmittersRCV003810571

NM_001267550.2(TTN):c.21961G>T (p.Glu7321Ter)

SNV
Germline

Chr2:178723046

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349530028

rs_2078691261

1 SubmittersRCV003810593

NM_001267550.2(TTN):c.70918C>T (p.Gln23640Ter)

SNV
Germline

Chr2:178575214

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349660199

rs_547376963

1 SubmittersRCV003810621

NM_001267550.2(TTN):c.51193A>T (p.Lys17065Ter)

SNV
Germline

Chr2:178610333

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349587968

rs_2470435116

1 SubmittersRCV003812744

NM_001267550.2(TTN):c.12887C>A (p.Ser4296Ter)

SNV
Germline

Chr2:178740346

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349610001

rs_727503657

1 SubmittersRCV003813012

NM_001267550.2(TTN):c.34379-1G>C

SNV
Germline

Chr2:178675996

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349526619

rs_2473683178

1 SubmittersRCV003807265

NM_001267550.2(TTN):c.68197G>T (p.Glu22733Ter)

SNV
Germline

Chr2:178578833

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349421173

rs_2468857083

1 SubmittersRCV003802490

NM_001267550.2(TTN):c.94220-2A>G

SNV
Germline

Chr2:178547307

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349476479

rs_2469086767

1 SubmittersRCV003802525

NM_001267550.2(TTN):c.64082C>A (p.Ser21361Ter)

SNV
Germline

Chr2:178587129

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349445995

rs_2469275782

1 SubmittersRCV003802533

NM_032237.5(POMK):c.645T>G (p.Tyr215Ter)

SNV
Germline

Chr8:43122469

Pathogenic

Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

Criteria Provided
Single Submitter

CA371122354

rs_1586681137

1 SubmittersRCV003805027

NM_001267550.2(TTN):c.72410C>A (p.Ser24137Ter)

SNV
Germline

Chr2:178573722

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349647314

rs_1709067373

1 SubmittersRCV003805060

NM_001267550.2(TTN):c.27713G>A (p.Trp9238Ter)

SNV
Germline

Chr2:178712117

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Primary familial dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349448818

rs_794729634

2 SubmittersRCV003805109 RCV005934940

NM_001267550.2(TTN):c.95119+1G>C

SNV
Germline

Chr2:178546211

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349466235

rs_2555817

1 SubmittersRCV003805252

NM_001267550.2(TTN):c.79016C>A (p.Ser26339Ter)

SNV
Germline

Chr2:178567116

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349600186

rs_2468311018

1 SubmittersRCV003812256

NM_001267550.2(TTN):c.13540C>T (p.Gln4514Ter)

SNV
Germline

Chr2:178739693

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349607490

rs_2530617809

1 SubmittersRCV003812264

NM_001267550.2(TTN):c.88307-1G>A

SNV
Germline

Chr2:178555153

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349528508

rs_2469412453

1 SubmittersRCV003818094

NM_001267550.2(TTN):c.64423C>T (p.Gln21475Ter)

SNV
Germline

Chr2:178585321

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349440301

rs_2469180395

1 SubmittersRCV003818141

NM_001267550.2(TTN):c.49948+2T>G

SNV
Germline

Chr2:178612771

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349600305

rs_1332632767

1 SubmittersRCV003810161

NM_201384.3(PLEC):c.10702G>T (p.Glu3568Ter)

SNV
Germline

Chr8:143919119

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

CA372497059

rs_782045368

1 SubmittersRCV003810180

NM_001267550.2(TTN):c.71525C>G (p.Ser23842Ter)

SNV
Germline

Chr2:178574607

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349653008

rs_2468637677

1 SubmittersRCV003810197

NM_001267550.2(TTN):c.71912G>A (p.Trp23971Ter)

SNV
Germline

Chr2:178574220

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349649732

rs_2468619234

1 SubmittersRCV003810322

NM_013382.7(POMT2):c.1311T>G (p.Tyr437Ter)

SNV
Germline

Chr14:77286765

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

CA390517673

rs_2503203091

1 SubmittersRCV003810390

NM_001267550.2(TTN):c.24611G>A (p.Trp8204Ter)

SNV
Germline

Chr2:178718495

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349498037

rs_2529261059

2 SubmittersRCV003810434 RCV005235735

NM_001267550.2(TTN):c.47379C>A (p.Tyr15793Ter)

SNV
Germline

Chr2:178617972

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

CA349617518

rs_374281025

1 SubmittersRCV003810436

NM_001077365.2(POMT1):c.1392G>C (p.Trp464Cys)

SNV
Germline

Chr9:131518863

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

CA375311814

rs_1178838681

1 SubmittersRCV003810451

NM_021942.6(TRAPPC11):c.24C>A (p.Phe8Leu)

SNV
Germline

Chr4:183663891

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type R18
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA358858284

rs_1734697591

2 SubmittersRCV003817096 RCV004968475

NM_015602.4(TOR1AIP1):c.907+1G>A

SNV
Germline

Chr1:179908674

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Single Submitter

CA1269024

rs_112561258

1 SubmittersRCV003832288

NM_000070.3(CAPN3):c.1978C>T (p.Gln660Ter)

SNV
Germline

Chr15:42409366

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA392001275

rs_1391365292

1 SubmittersRCV003842970

NM_021942.6(TRAPPC11):c.2958G>A (p.Trp986Ter)

SNV
Germline

Chr4:183701803

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

CA358873959

rs_2476948907

1 SubmittersRCV003855591

NM_000070.3(CAPN3):c.664G>C (p.Gly222Arg)

SNV
Germline

Chr15:42388959

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA391998106

rs_1345121557

1 SubmittersRCV003858778

NM_000070.3(CAPN3):c.1375C>T (p.Gln459Ter)

SNV
Germline

Chr15:42401661

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

CA7511345

rs_773631149

1 SubmittersRCV003865114

NM_015602.4(TOR1AIP1):c.583C>T (p.Arg195Ter)

SNV
Germline

Chr1:179889342

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Single Submitter

CA33715198

rs_907592735

1 SubmittersRCV003882670

NM_001267550.2(TTN):c.103804C>T (p.Gln34602Ter)

SNV
Germline

Chr2:178532811

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349413473

rs_727505242

2 SubmittersRCV003887517 RCV005216142

NM_000070.3(CAPN3):c.1560G>A (p.Leu520=)

SNV
Germline

Chr15:42402817

Conflicting classifications of pathogenicity

CAPN3-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2A

No Assertion Criteria Provided

CA7511435

rs_762223179

2 SubmittersRCV004540957 RCV005610662

NM_000070.3(CAPN3):c.779C>T (p.Ser260Phe)

SNV
Germline

Chr15:42389074

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Single Submitter

CA391998368

rs_1237444643

1 SubmittersRCV003988454

NM_000232.5(SGCB):c.683G>A (p.Gly228Glu)

SNV
Germline

Chr4:52028038

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

No Assertion Criteria Provided

CA356876035

rs_1737147925

1 SubmittersRCV004006232

NM_001267550.2(TTN):c.8641+19C>A

SNV
Germline

Chr2:178770041

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA2004567

rs_749820891

2 SubmittersRCV004018514 RCV005220881

NM_001161403.3(LIMS2):c.494A>G (p.Asn165Ser)

SNV
Germline

Chr2:127642938

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2W

Criteria Provided
Conflicting Classifications

CA348425684

rs_1432539290

2 SubmittersRCV004415281 RCV006483962

NM_001267550.2(TTN):c.1129G>T (p.Glu377Ter)

SNV
Germline

Chr2:178795038

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349518087

rs_1012350596

2 SubmittersRCV004508547 RCV006564835

NM_001267550.2(TTN):c.41595C>A (p.Cys13865Ter)

SNV
Germline

Chr2:178635976

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349657987

rs_1336274191

2 SubmittersRCV004508552 RCV004767562

NM_001267550.2(TTN):c.62299C>T (p.Gln20767Ter)

SNV
Germline

Chr2:178589426

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349465250

rs_1553640642

2 SubmittersRCV004508599 RCV005220920

NM_001267550.2(TTN):c.79750G>T (p.Glu26584Ter)

SNV
Germline

Chr2:178566382

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349594085

rs_2468282675

2 SubmittersRCV004508654 RCV005220923

NM_001267550.2(TTN):c.81715C>T (p.Gln27239Ter)

SNV
Germline

Chr2:178564417

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349578510

rs_1408614204

2 SubmittersRCV004508660 RCV006564841

NM_001267550.2(TTN):c.99613A>T (p.Lys33205Ter)

SNV
Germline

Chr2:178537594

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA349427838

rs_2468677363

2 SubmittersRCV004508701 RCV005216230

NM_001267550.2(TTN):c.99936G>A (p.Trp33312Ter)

SNV
Germline

Chr2:178537173

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA349427122

rs_1294718974

2 SubmittersRCV004508704 RCV005220924

NM_001267550.2(TTN):c.81130C>T (p.Gln27044Ter)

SNV
Germline

Chr2:178565002

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

CA349583341

rs_2468228555

1 SubmittersRCV004526454

NM_001130987.2(DYSF):c.1003-1G>A

SNV
Germline

Chr2:71520177

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2545453932

2 SubmittersRCV004576129 RCV004576128

NM_017739.4(POMGNT1):c.1069C>T (p.Gln357Ter)

SNV
Germline

Chr1:46193346

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

rs_750620615

2 SubmittersRCV004574602 RCV005015189

NM_000023.4(SGCA):c.385+1G>T

SNV
Unknown

Chr17:50168020

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

rs_1352135631

1 SubmittersRCV004573573

NM_000023.4(SGCA):c.704C>T (p.Thr235Ile)

SNV
Germline

Chr17:50169211

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2D
not specified

Criteria Provided
Conflicting Classifications

rs_1219162630

2 SubmittersRCV004573574 RCV004587647

NM_000023.4(SGCA):c.385+2T>C

SNV
Unknown

Chr17:50168021

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

rs_1598266203

1 SubmittersRCV004573575

NM_000023.4(SGCA):c.270C>G (p.Tyr90Ter)

SNV
Unknown

Chr17:50167694

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

rs_749205073

1 SubmittersRCV004573576

NM_000023.4(SGCA):c.409G>T (p.Glu137Ter)

SNV
Unknown

Chr17:50168397

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

rs_372210292

1 SubmittersRCV004573577

NM_000023.4(SGCA):c.983+5G>A

SNV
Unknown

Chr17:50170671

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

rs_1184946403

1 SubmittersRCV004573578

NM_000070.3(CAPN3):c.1030-1G>T

SNV
Germline

Chr15:42394255

Pathogenic/Likely pathogenic

Muscular dystrophy, limb-girdle, autosomal dominant 4
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555421263

2 SubmittersRCV004575489 RCV006613370

NM_001130987.2(DYSF):c.6321+1G>C

SNV
Germline

Chr2:71682678

Likely pathogenic

Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Multiple Submitters
No Conflicts

rs_2546653051

2 SubmittersRCV004575864 RCV005038718

NM_001267550.2(TTN):c.68527+1G>T

SNV
Germline

Chr2:178577987

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004682835 RCV004787152 RCV005220993

NM_001267550.2(TTN):c.79066G>T (p.Glu26356Ter)

SNV
Germline

Chr2:178567066

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004682889 RCV006565129

NM_001079802.2(FKTN):c.915G>C (p.Trp305Cys)

SNV
Germline

Chr9:105617963

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004690563 RCV005040748

NM_213599.3(ANO5):c.1067G>A (p.Cys356Tyr)

SNV
Germline

Chr11:22250794

Pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004698305 RCV005220998

NM_001267550.2(TTN):c.54342G>A (p.Trp18114Ter)

SNV
Germline

Chr2:178604747

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004775610 RCV005216304

NM_213599.3(ANO5):c.986T>G (p.Leu329Ter)

SNV
Germline

Chr11:22250344

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004702704

NM_001267550.2(TTN):c.36532+2T>G

SNV
Germline

Chr2:178663625

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Autosomal recessive titinopathy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005221001 RCV005241020

NM_001267550.2(TTN):c.48638+1G>C

SNV
Germline

Chr2:178615306

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004722195 RCV005221008

NM_001267550.2(TTN):c.107818C>T (p.Gln35940Ter)

SNV
Germline

Chr2:178527170

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004722241 RCV005216310 RCV005301443

NM_001267550.2(TTN):c.24913C>T (p.Arg8305Ter)

SNV
Germline

Chr2:178718093

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004761216 RCV005218284

NM_000070.3(CAPN3):c.2235C>G (p.Tyr745Ter)

SNV
Germline

Chr15:42410638

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV004764325

NM_000070.3(CAPN3):c.1536G>C (p.Glu512Asp)

SNV
Germline

Chr15:42402135

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004765113

NM_001267550.2(TTN):c.66884G>A (p.Trp22295Ter)

SNV
Germline

Chr2:178580495

Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

2 SubmittersRCV004765134 RCV005221045

NM_001267550.2(TTN):c.67751G>A (p.Trp22584Ter)

SNV
Germline

Chr2:178579279

Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

2 SubmittersRCV004765137 RCV005218287

NM_001267550.2(TTN):c.87477G>A (p.Trp29159Ter)

SNV
Germline

Chr2:178557877

Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

2 SubmittersRCV004765201 RCV006565273

NM_001267550.2(TTN):c.87555G>A (p.Trp29185Ter)

SNV
Germline

Chr2:178557799

Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

2 SubmittersRCV004765203 RCV006565274

NM_001267550.2(TTN):c.6509-1G>A

SNV
Germline

Chr2:178775203

Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

2 SubmittersRCV004765247 RCV005218288

NM_001267550.2(TTN):c.94596T>A (p.Tyr31532Ter)

SNV
Germline

Chr2:178546832

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004769739 RCV005218291

NM_000070.3(CAPN3):c.377T>C (p.Leu126Pro)

SNV
Germline

Chr15:42384550

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004780044 RCV006437249

NM_015602.4(TOR1AIP1):c.797-2A>G

SNV
Germline

Chr1:179907821

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Single Submitter

1 SubmittersRCV004785748

NM_001267550.2(TTN):c.94828+1G>T

SNV
Germline

Chr2:178546599

Likely pathogenic

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004791118 RCV006565356

NM_013382.7(POMT2):c.604T>G (p.Phe202Val)

SNV
Germline

Chr14:77302887

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

1 SubmittersRCV004796901

NM_017739.4(POMGNT1):c.701G>A (p.Trp234Ter)

SNV
Germline

Chr1:46194603

Likely pathogenic

Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

1 SubmittersRCV004797009

NM_001267550.2(TTN):c.20382G>A (p.Trp6794Ter)

SNV
Germline

Chr2:178725940

Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004795591 RCV006565360

NM_001267550.2(TTN):c.54386G>A (p.Trp18129Ter)

SNV
Germline

Chr2:178604301

Likely pathogenic

6 conditions
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004795636 RCV005218335

NM_000070.3(CAPN3):c.1745+1G>A

SNV
Germline

Chr15:42403003

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV004796561

NM_021971.4(GMPPB):c.211-1G>A

SNV
Germline

Chr3:49723303

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004801648 RCV006565367

NM_012210.4(TRIM32):c.564T>A (p.Tyr188Ter)

SNV
Germline

Chr9:116698306

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004799828

NM_000023.4(SGCA):c.292C>A (p.Arg98Ser)

SNV
Germline

Chr17:50167716

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004800118 RCV006631204

NM_001079802.2(FKTN):c.1271G>T (p.Gly424Val)

SNV
Germline

Chr9:105635149

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2M

Criteria Provided
Single Submitter

1 SubmittersRCV004818910

NM_201384.3(PLEC):c.6134A>C (p.Lys2045Thr)

SNV
Germline

Chr8:143923795

Conflicting classifications of pathogenicity

Inborn genetic diseases
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004962222 RCV005218365 RCV005412696

NM_001267550.2(TTN):c.81926G>A (p.Trp27309Ter)

SNV
Germline

Chr2:178564206

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004991094 RCV006565568

NM_001267550.2(TTN):c.40516G>T (p.Glu13506Ter)

SNV
Germline

Chr2:178642279

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004993012 RCV005221151

NM_000231.3(SGCG):c.61C>T (p.Gln21Ter)

SNV
Germline

Chr13:23203755

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

1 SubmittersRCV005005592

NM_000231.3(SGCG):c.320C>T (p.Ser107Leu)

SNV
Germline

Chr13:23250652

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV005005593

NM_000023.4(SGCA):c.984-2A>G

SNV
Germline

Chr17:50175255

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

1 SubmittersRCV005020502

NM_024301.5(FKRP):c.2T>C (p.Met1Thr)

SNV
Germline

Chr19:46755452

Likely pathogenic

Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Single Submitter

1 SubmittersRCV005015848

NM_024301.5(FKRP):c.265C>T (p.Pro89Ser)

SNV
Germline

Chr19:46755715

Likely pathogenic

Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Single Submitter

1 SubmittersRCV005015849

NM_024301.5(FKRP):c.899T>A (p.Val300Glu)

SNV
Germline

Chr19:46756349

Likely pathogenic

Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Single Submitter

1 SubmittersRCV005028697

NM_024301.5(FKRP):c.927C>A (p.Tyr309Ter)

SNV
Germline

Chr19:46756377

Likely pathogenic

Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Single Submitter

1 SubmittersRCV005028698

NM_024301.5(FKRP):c.1129C>T (p.Gln377Ter)

SNV
Germline

Chr19:46756579

Likely pathogenic

Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Autosomal recessive limb-girdle muscular dystrophy type 2I

Criteria Provided
Single Submitter

1 SubmittersRCV005015853

NM_000070.3(CAPN3):c.250G>T (p.Glu84Ter)

SNV
Germline

Chr15:42360055

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Single Submitter

1 SubmittersRCV005009566

NM_000070.3(CAPN3):c.633-2A>G

SNV
Germline

Chr15:42388926

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005009568 RCV005631300

NM_000070.3(CAPN3):c.1633C>T (p.Gln545Ter)

SNV
Germline

Chr15:42402890

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Single Submitter

1 SubmittersRCV005009572

NM_000070.3(CAPN3):c.1915-2A>C

SNV
Germline

Chr15:42409301

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Single Submitter

1 SubmittersRCV005009573

NM_000070.3(CAPN3):c.1992+2T>G

SNV
Germline

Chr15:42409382

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Single Submitter

1 SubmittersRCV005009574

NM_000070.3(CAPN3):c.1993-2A>G

SNV
Germline

Chr15:42409785

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Single Submitter

1 SubmittersRCV005009575

NM_000070.3(CAPN3):c.2051-2A>G

SNV
Germline

Chr15:42409929

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Single Submitter

1 SubmittersRCV005009576

NM_000070.3(CAPN3):c.2116-1G>A

SNV
Germline

Chr15:42410427

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Single Submitter

1 SubmittersRCV005009577

NM_000070.3(CAPN3):c.2441G>A (p.Trp814Ter)

SNV
Germline

Chr15:42411748

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005009579 RCV005632801

NM_000070.3(CAPN3):c.2442G>A (p.Trp814Ter)

SNV
Germline

Chr15:42411749

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscular dystrophy, limb-girdle, autosomal dominant 4

Criteria Provided
Single Submitter

1 SubmittersRCV005009580

NM_013382.7(POMT2):c.2085G>A (p.Trp695Ter)

SNV
Germline

Chr14:77278456

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Criteria Provided
Single Submitter

1 SubmittersRCV005009288

NM_013382.7(POMT2):c.1653+1G>T

SNV
Germline

Chr14:77283796

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Criteria Provided
Single Submitter

1 SubmittersRCV005009289

NM_013382.7(POMT2):c.1491G>A (p.Trp497Ter)

SNV
Germline

Chr14:77285035

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Criteria Provided
Single Submitter

1 SubmittersRCV005009291

NM_013382.7(POMT2):c.1162A>T (p.Lys388Ter)

SNV
Germline

Chr14:77291335

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Criteria Provided
Single Submitter

1 SubmittersRCV005009293

NM_013382.7(POMT2):c.1006+1G>T

SNV
Germline

Chr14:77298688

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Criteria Provided
Single Submitter

1 SubmittersRCV005009294

NM_001267550.2(TTN):c.92871T>G (p.Ala30957=)

SNV
Germline

Chr2:178548755

Conflicting classifications of pathogenicity

6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005030603 RCV006564251

NM_017739.4(POMGNT1):c.1284+1G>A

SNV
Germline

Chr1:46192517

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

1 SubmittersRCV005018468

NM_001079802.2(FKTN):c.1A>C (p.Met1Leu)

SNV
Germline

Chr9:105575033

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Criteria Provided
Single Submitter

1 SubmittersRCV005043646

NM_001079802.2(FKTN):c.303C>A (p.Cys101Ter)

SNV
Germline

Chr9:105601282

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Criteria Provided
Single Submitter

1 SubmittersRCV005043647

NM_001079802.2(FKTN):c.1044G>A (p.Lys348=)

SNV
Germline

Chr9:105618092

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Criteria Provided
Single Submitter

1 SubmittersRCV005043649

NM_001079802.2(FKTN):c.1045-6C>G

SNV
Germline

Chr9:105619928

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Dilated cardiomyopathy 1X
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005048857 RCV005105316

NM_001079802.2(FKTN):c.1072C>T (p.Gln358Ter)

SNV
Germline

Chr9:105619961

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Criteria Provided
Single Submitter

1 SubmittersRCV005043650

NM_001079802.2(FKTN):c.1173-1G>T

SNV
Germline

Chr9:105635050

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005043651 RCV006489283

NM_213599.3(ANO5):c.846T>G (p.Tyr282Ter)

SNV
Germline

Chr11:22239652

Pathogenic/Likely pathogenic

Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005046678 RCV005223189

NM_001130987.2(DYSF):c.1150-2A>G

SNV
Germline

Chr2:71526218

Likely pathogenic

Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

1 SubmittersRCV005032404

NM_001130987.2(DYSF):c.1493+1G>T

SNV
Germline

Chr2:71535312

Likely pathogenic

Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

1 SubmittersRCV005032405

NM_001130987.2(DYSF):c.1806+2T>A

SNV
Germline

Chr2:71551722

Likely pathogenic

Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

1 SubmittersRCV005026754

NM_001130987.2(DYSF):c.1984+1G>A

SNV
Germline

Chr2:71553189

Likely pathogenic

Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

1 SubmittersRCV005032407

NM_001130987.2(DYSF):c.2713A>T (p.Lys905Ter)

SNV
Germline

Chr2:71568187

Pathogenic

Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

1 SubmittersRCV005032409

NM_001130987.2(DYSF):c.3082C>T (p.Gln1028Ter)

SNV
Germline

Chr2:71570331

Pathogenic

Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

1 SubmittersRCV005026756

NM_001130987.2(DYSF):c.3127A>T (p.Lys1043Ter)

SNV
Germline

Chr2:71570640

Likely pathogenic

Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

1 SubmittersRCV005026758

NM_001130987.2(DYSF):c.6020G>A (p.Trp2007Ter)

SNV
Germline

Chr2:71679192

Pathogenic

Miyoshi muscular dystrophy 1
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

1 SubmittersRCV005026765

NM_000232.5(SGCB):c.753+1G>A

SNV
Germline

Chr4:52027967

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Single Submitter

1 SubmittersRCV005039148

NM_000337.6(SGCD):c.370C>T (p.Gln124Ter)

SNV
Germline

Chr5:156589306

Likely pathogenic

Dilated cardiomyopathy 1L
Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Single Submitter

1 SubmittersRCV005035394

NM_001077365.2(POMT1):c.5G>A (p.Trp2Ter)

SNV
Germline

Chr9:131504223

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Single Submitter

1 SubmittersRCV005048920

NM_001077365.2(POMT1):c.229+1G>A

SNV
Germline

Chr9:131506221

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Single Submitter

1 SubmittersRCV005043867

NM_001077365.2(POMT1):c.1175+1G>T

SNV
Germline

Chr9:131513332

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Single Submitter

1 SubmittersRCV005043869

NM_001077365.2(POMT1):c.1584+1G>T

SNV
Germline

Chr9:131519487

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Single Submitter

1 SubmittersRCV005043870

NM_001130987.2(DYSF):c.1450-1G>A

SNV
Germline

Chr2:71535267

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

1 SubmittersRCV005000636

NM_001267550.2(TTN):c.57262G>C (p.Val19088Leu)

SNV
Germline

Chr2:178597908

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005416778

NM_001267550.2(TTN):c.75581C>G (p.Ser25194Ter)

SNV
Germline

Chr2:178570551

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005054117 RCV006564334

NM_001267550.2(TTN):c.16122C>A (p.Cys5374Ter)

SNV
Germline

Chr2:178733054

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005054628 RCV006564336

NM_001267550.2(TTN):c.31348+1G>T

SNV
Germline

Chr2:178694828

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005063565 RCV006564342

NM_015602.4(TOR1AIP1):c.476-1G>C

SNV
Germline

Chr1:179884691

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Single Submitter

1 SubmittersRCV005065639

NM_000337.6(SGCD):c.382+2T>C

SNV
Germline

Chr5:156589320

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Single Submitter

1 SubmittersRCV005108523

NM_000070.3(CAPN3):c.1951C>T (p.Gln651Ter)

SNV
Germline

Chr15:42409339

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005119624

NM_000337.6(SGCD):c.172A>T (p.Lys58Ter)

SNV
Germline

Chr5:156344657

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Single Submitter

1 SubmittersRCV005144951

NM_001130987.2(DYSF):c.1493+5G>C

SNV
Germline

Chr2:71535316

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Criteria Provided
Single Submitter

2 SubmittersRCV005618449 RCV005142310

NM_000070.3(CAPN3):c.931G>T (p.Glu311Ter)

SNV
Germline

Chr15:42390082

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005158539

NM_000070.3(CAPN3):c.1193+1G>T

SNV
Germline

Chr15:42396878

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005157665

NM_021942.6(TRAPPC11):c.2964-2A>G

SNV
Germline

Chr4:183704977

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

1 SubmittersRCV005154937

NM_000070.3(CAPN3):c.2263G>A (p.Gly755Arg)

SNV
Germline

Chr15:42410666

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005195508

NM_021942.6(TRAPPC11):c.1287+1G>C

SNV
Germline

Chr4:183684055

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

1 SubmittersRCV005202798

NM_015602.4(TOR1AIP1):c.739+2T>C

SNV
Germline

Chr1:179901390

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Single Submitter

1 SubmittersRCV005197011

NM_000070.3(CAPN3):c.632A>G (p.Lys211Arg)

SNV
Germline

Chr15:42387886

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005208393

NM_001267550.2(TTN):c.5413C>T (p.Gln1805Ter)

SNV
Germline

Chr2:178776451

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005209845

NM_001267550.2(TTN):c.103411C>T (p.Arg34471Ter)

SNV
Germline

Chr2:178533204

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005209894

NM_001267550.2(TTN):c.8116+1G>A

SNV
Germline

Chr2:178771210

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005209949

NM_001267550.2(TTN):c.12970G>T (p.Glu4324Ter)

SNV
Germline

Chr2:178740263

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005209985

NM_001101426.4(CRPPA):c.535-1G>A

SNV
Germline

Chr7:16376242

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Single Submitter

1 SubmittersRCV005210022

NM_001267550.2(TTN):c.39817+1G>A

SNV
Germline

Chr2:178650163

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005211151

NM_001267550.2(TTN):c.62261G>A (p.Trp20754Ter)

SNV
Germline

Chr2:178589464

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005213690

NM_001267550.2(TTN):c.29308C>T (p.Arg9770Ter)

SNV
Germline

Chr2:178706566

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005213862

NM_213599.3(ANO5):c.2520+1G>A

SNV
Germline

Chr11:22276200

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

1 SubmittersRCV005213890

NM_001267550.2(TTN):c.77156G>A (p.Trp25719Ter)

SNV
Germline

Chr2:178568976

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005213946

NM_001267550.2(TTN):c.34786+1G>A

SNV
Germline

Chr2:178673632

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_879010418

2 SubmittersRCV005211470 RCV005406163

NM_001267550.2(TTN):c.11851C>T (p.Gln3951Ter)

SNV
Germline

Chr2:178741382

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005211577

NM_001267550.2(TTN):c.15921C>A (p.Tyr5307Ter)

SNV
Germline

Chr2:178733372

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005211641

NM_001267550.2(TTN):c.31203T>G (p.Tyr10401Ter)

SNV
Germline

Chr2:178695869

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005211688

NM_001267550.2(TTN):c.41407G>T (p.Glu13803Ter)

SNV
Germline

Chr2:178636164

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005211692

NM_001267550.2(TTN):c.22068G>A (p.Trp7356Ter)

SNV
Germline

Chr2:178722831

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005214244

NM_001267550.2(TTN):c.36091A>T (p.Lys12031Ter)

SNV
Germline

Chr2:178664879

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219522

NM_001267550.2(TTN):c.35875+1G>C

SNV
Germline

Chr2:178666823

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223383

NM_001267550.2(TTN):c.93402G>A (p.Trp31134Ter)

SNV
Germline

Chr2:178548224

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223494

NM_001267550.2(TTN):c.51317G>A (p.Trp17106Ter)

SNV
Germline

Chr2:178610209

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223498

NM_201384.3(PLEC):c.825+1G>A

SNV
Germline

Chr8:143935010

Likely pathogenic

Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005219612

NM_021971.4(GMPPB):c.641-2A>G

SNV
Germline

Chr3:49722360

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

1 SubmittersRCV005223502

NM_001267550.2(TTN):c.64094-1G>A

SNV
Germline

Chr2:178586808

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223513

NM_001267550.2(TTN):c.34643C>G (p.Ser11548Ter)

SNV
Germline

Chr2:178674379

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217464

NM_001267550.2(TTN):c.46855C>T (p.Gln15619Ter)

SNV
Germline

Chr2:178618695

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217494

NM_001267550.2(TTN):c.65275+1G>A

SNV
Germline

Chr2:178584275

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217523

NM_001267550.2(TTN):c.93316G>T (p.Glu31106Ter)

SNV
Germline

Chr2:178548310

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217592

NM_001267550.2(TTN):c.50212G>T (p.Glu16738Ter)

SNV
Germline

Chr2:178612313

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217649

NM_001267550.2(TTN):c.2737G>T (p.Glu913Ter)

SNV
Germline

Chr2:178784108

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217671

NM_001267550.2(TTN):c.54441T>A (p.Tyr18147Ter)

SNV
Germline

Chr2:178604246

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217753

NM_001267550.2(TTN):c.39211+1G>A

SNV
Germline

Chr2:178652263

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217754

NM_001267550.2(TTN):c.95868G>A (p.Trp31956Ter)

SNV
Germline

Chr2:178544361

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219739

NM_001267550.2(TTN):c.94493C>G (p.Ser31498Ter)

SNV
Germline

Chr2:178547032

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219827

NM_001267550.2(TTN):c.9471+1G>T

SNV
Germline

Chr2:178767758

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215559

NM_001267550.2(TTN):c.18088C>T (p.Gln6030Ter)

SNV
Germline

Chr2:178730312

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215578

NM_001267550.2(TTN):c.5092G>T (p.Glu1698Ter)

SNV
Germline

Chr2:178776772

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217798

NM_001267550.2(TTN):c.44014+2T>C

SNV
Germline

Chr2:178631032

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217841

NM_001267550.2(TTN):c.30754+2T>C

SNV
Germline

Chr2:178698841

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217867

NM_001267550.2(TTN):c.68823C>G (p.Tyr22941Ter)

SNV
Germline

Chr2:178577603

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217994

NM_001267550.2(TTN):c.11558G>A (p.Trp3853Ter)

SNV
Germline

Chr2:178741675

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218018

NM_001267550.2(TTN):c.90815G>A (p.Trp30272Ter)

SNV
Germline

Chr2:178552085

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005225729

NM_001267550.2(TTN):c.2931C>G (p.Tyr977Ter)

SNV
Germline

Chr2:178782975

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005221529

NM_001267550.2(TTN):c.94220-1G>C

SNV
Germline

Chr2:178547306

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005221569

NM_001267550.2(TTN):c.57693G>A (p.Trp19231Ter)

SNV
Germline

Chr2:178595661

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221575

NM_001267550.2(TTN):c.50746G>T (p.Glu16916Ter)

SNV
Germline

Chr2:178611483

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005221580

NM_001267550.2(TTN):c.42897T>G (p.Tyr14299Ter)

SNV
Germline

Chr2:178633462

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005221599

NM_001267550.2(TTN):c.86482C>T (p.Gln28828Ter)

SNV
Germline

Chr2:178559650

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005221622

NM_001267550.2(TTN):c.36019G>T (p.Glu12007Ter)

SNV
Germline

Chr2:178665401

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223678

NM_001267550.2(TTN):c.93110G>A (p.Trp31037Ter)

SNV
Germline

Chr2:178548516

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223680

NM_001267550.2(TTN):c.57614G>A (p.Trp19205Ter)

SNV
Germline

Chr2:178595740

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223711

NM_001267550.2(TTN):c.96206T>A (p.Leu32069Ter)

SNV
Germline

Chr2:178543938

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223729

NM_001267550.2(TTN):c.12793C>T (p.Gln4265Ter)

SNV
Germline

Chr2:178740440

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223731

NM_001267550.2(TTN):c.66463+1G>A

SNV
Germline

Chr2:178581905

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223761

NM_001267550.2(TTN):c.4834G>T (p.Glu1612Ter)

SNV
Germline

Chr2:178777030

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223778

NM_001267550.2(TTN):c.46375G>T (p.Glu15459Ter)

SNV
Germline

Chr2:178620042

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223786

NM_001267550.2(TTN):c.80080G>T (p.Glu26694Ter)

SNV
Germline

Chr2:178566052

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223789

NM_001267550.2(TTN):c.3100+1G>A

SNV
Germline

Chr2:178782805

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223844

NM_001267550.2(TTN):c.79692T>A (p.Cys26564Ter)

SNV
Germline

Chr2:178566440

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223891

NM_001267550.2(TTN):c.55892G>A (p.Trp18631Ter)

SNV
Germline

Chr2:178601012

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223895

NM_001267550.2(TTN):c.30151C>T (p.Arg10051Ter)

SNV
Germline

Chr2:178704219

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218697

NM_001267550.2(TTN):c.36280+2T>A

SNV
Germline

Chr2:178664458

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218744

NM_001267550.2(TTN):c.27022G>T (p.Glu9008Ter)

SNV
Germline

Chr2:178713112

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005210901

NM_001267550.2(TTN):c.81929C>G (p.Ser27310Ter)

SNV
Germline

Chr2:178564203

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005210985

NM_001267550.2(TTN):c.57111+2T>C

SNV
Germline

Chr2:178598504

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005211070

NM_001267550.2(TTN):c.88342G>T (p.Glu29448Ter)

SNV
Germline

Chr2:178555117

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005219027 RCV005412737

NM_001267550.2(TTN):c.16012G>T (p.Glu5338Ter)

SNV
Germline

Chr2:178733281

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219069

NM_001267550.2(TTN):c.40058-1G>A

SNV
Germline

Chr2:178647465

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219151

NM_001267550.2(TTN):c.39127+2T>C

SNV
Germline

Chr2:178652456

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005211252

NM_001267550.2(TTN):c.30434-2A>G

SNV
Germline

Chr2:178702247

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005211301

NM_001267550.2(TTN):c.83243T>G (p.Leu27748Ter)

SNV
Germline

Chr2:178562889

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005211322

NM_001267550.2(TTN):c.78787C>T (p.Gln26263Ter)

SNV
Germline

Chr2:178567345

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219252

NM_001267550.2(TTN):c.67492C>T (p.Gln22498Ter)

SNV
Germline

Chr2:178579705

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219319

NM_001267550.2(TTN):c.29113C>T (p.Gln9705Ter)

SNV
Germline

Chr2:178706883

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223214

NM_001267550.2(TTN):c.22475C>G (p.Ser7492Ter)

SNV
Germline

Chr2:178722312

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005223329

NM_001077365.2(POMT1):c.780C>G (p.Tyr260Ter)

SNV
Germline

Chr9:131510340

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Single Submitter

1 SubmittersRCV005223345

NM_213599.3(ANO5):c.241G>T (p.Asp81Tyr)

SNV
Germline

Chr11:22221157

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

1 SubmittersRCV005219391

NM_001077365.2(POMT1):c.428-1G>C

SNV
Germline

Chr9:131508910

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Single Submitter

1 SubmittersRCV005219393

NM_001267550.2(TTN):c.45451C>T (p.Gln15151Ter)

SNV
Germline

Chr2:178621267

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219455

NM_001267550.2(TTN):c.103123C>T (p.Gln34375Ter)

SNV
Germline

Chr2:178533492

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005214915

NM_201384.3(PLEC):c.9295G>T (p.Glu3099Ter)

SNV
Germline

Chr8:143920526

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Single Submitter

1 SubmittersRCV005214938

NM_001267550.2(TTN):c.52547G>A (p.Trp17516Ter)

SNV
Germline

Chr2:178608336

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005214942 RCV006257400

NM_001267550.2(TTN):c.49948+1G>C

SNV
Germline

Chr2:178612772

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005214950

NM_001267550.2(TTN):c.62951G>A (p.Trp20984Ter)

SNV
Germline

Chr2:178588774

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005214954

NM_001267550.2(TTN):c.67058-1G>T

SNV
Germline

Chr2:178580230

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005214966

NM_001077365.2(POMT1):c.987-1G>A

SNV
Germline

Chr9:131512040

Likely pathogenic

Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Single Submitter

1 SubmittersRCV005215080

NM_001267550.2(TTN):c.53287+2T>A

SNV
Germline

Chr2:178607399

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217289

NM_201384.3(PLEC):c.12367G>T (p.Glu4123Ter)

SNV
Germline

Chr8:143917454

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Single Submitter

1 SubmittersRCV005217346

NM_201384.3(PLEC):c.2516G>A (p.Trp839Ter)

SNV
Germline

Chr8:143930240

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Single Submitter

1 SubmittersRCV005217433

NM_013382.7(POMT2):c.1036A>T (p.Lys346Ter)

SNV
Germline

Chr14:77296244

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

1 SubmittersRCV005217455

NM_001267550.2(TTN):c.103420C>T (p.Gln34474Ter)

SNV
Germline

Chr2:178533195

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212697

NM_001267550.2(TTN):c.51136+1G>A

SNV
Germline

Chr2:178610992

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005215235 RCV005631321

NM_001267550.2(TTN):c.93970G>T (p.Glu31324Ter)

SNV
Germline

Chr2:178547656

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215319

NM_001267550.2(TTN):c.18344T>G (p.Leu6115Ter)

SNV
Germline

Chr2:178729909

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215389

NM_201384.3(PLEC):c.5200G>T (p.Glu1734Ter)

SNV
Germline

Chr8:143924729

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

1 SubmittersRCV005215407

NM_001267550.2(TTN):c.103188G>A (p.Trp34396Ter)

SNV
Germline

Chr2:178533427

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215419

NM_001267550.2(TTN):c.87735G>A (p.Trp29245Ter)

SNV
Germline

Chr2:178557527

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215450

NM_001267550.2(TTN):c.67302T>A (p.Tyr22434Ter)

SNV
Germline

Chr2:178579985

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215466

NM_001267550.2(TTN):c.69209C>A (p.Ser23070Ter)

SNV
Germline

Chr2:178577126

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215487

NM_001267550.2(TTN):c.48638+2T>C

SNV
Germline

Chr2:178615305

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005215535

NM_001267550.2(TTN):c.61008T>A (p.Tyr20336Ter)

SNV
Germline

Chr2:178590717

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005212944

NM_001267550.2(TTN):c.94220-1G>T

SNV
Germline

Chr2:178547306

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005213006

NM_001267550.2(TTN):c.84420C>G (p.Tyr28140Ter)

SNV
Germline

Chr2:178561712

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005213018

NM_001267550.2(TTN):c.35392G>T (p.Glu11798Ter)

SNV
Germline

Chr2:178669670

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005213098

NM_001267550.2(TTN):c.72379G>T (p.Glu24127Ter)

SNV
Germline

Chr2:178573753

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005213114

NM_001267550.2(TTN):c.63793+1G>T

SNV
Germline

Chr2:178587515

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005213116 RCV005774768

NM_001267550.2(TTN):c.79601G>A (p.Trp26534Ter)

SNV
Germline

Chr2:178566531

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005215675

NM_001267550.2(TTN):c.102932C>G (p.Ser34311Ter)

SNV
Germline

Chr2:178533683

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005228493

NM_001267550.2(TTN):c.91061C>G (p.Ser30354Ter)

SNV
Germline

Chr2:178551839

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005228495

NM_001267550.2(TTN):c.88962G>A (p.Trp29654Ter)

SNV
Germline

Chr2:178554149

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005228496

NM_001267550.2(TTN):c.35083G>T (p.Glu11695Ter)

SNV
Germline

Chr2:178672115

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005228499

NM_001267550.2(TTN):c.14092+1G>T

SNV
Germline

Chr2:178739140

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005228501

NM_001267550.2(TTN):c.59467G>T (p.Glu19823Ter)

SNV
Germline

Chr2:178592538

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005221273

NM_001267550.2(TTN):c.44281+2T>C

SNV
Germline

Chr2:178630239

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221274

NM_001267550.2(TTN):c.1555A>T (p.Lys519Ter)

SNV
Germline

Chr2:178792179

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005221280

NM_001267550.2(TTN):c.71583T>A (p.Tyr23861Ter)

SNV
Germline

Chr2:178574549

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221283

NM_001267550.2(TTN):c.107117C>G (p.Ser35706Ter)

SNV
Germline

Chr2:178528634

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005221291

NM_001267550.2(TTN):c.88807G>T (p.Glu29603Ter)

SNV
Germline

Chr2:178554540

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005221295

NM_001267550.2(TTN):c.48247G>T (p.Gly16083Ter)

SNV
Germline

Chr2:178616544

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005221297 RCV005515739

NM_001267550.2(TTN):c.12617T>G (p.Leu4206Ter)

SNV
Germline

Chr2:178740616

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005221310

NM_001267550.2(TTN):c.58969G>T (p.Glu19657Ter)

SNV
Germline

Chr2:178593239

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005221353

NM_001267550.2(TTN):c.63860G>A (p.Trp21287Ter)

SNV
Germline

Chr2:178587351

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005221411

NM_001267550.2(TTN):c.16508T>G (p.Leu5503Ter)

SNV
Germline

Chr2:178732553

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005221417

NM_001267550.2(TTN):c.44387G>A (p.Trp14796Ter)

SNV
Germline

Chr2:178629338

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005221448

NM_001267550.2(TTN):c.7163G>A (p.Trp2388Ter)

SNV
Germline

Chr2:178774005

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005221462

NM_001267550.2(TTN):c.78301A>T (p.Lys26101Ter)

SNV
Germline

Chr2:178567831

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005221510

NM_001267550.2(TTN):c.103530T>A (p.Tyr34510Ter)

SNV
Germline

Chr2:178533085

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005228685

NM_001267550.2(TTN):c.11311+1G>A

SNV
Germline

Chr2:178753123

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005221740

NM_001267550.2(TTN):c.39973+1G>T

SNV
Germline

Chr2:178649553

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005210624

NM_201384.3(PLEC):c.10354C>T (p.Gln3452Ter)

SNV
Germline

Chr8:143919467

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Single Submitter

1 SubmittersRCV005210646

NM_001267550.2(TTN):c.52472G>A (p.Trp17491Ter)

SNV
Germline

Chr2:178608411

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005210682

NM_213599.3(ANO5):c.1385C>A (p.Ser462Ter)

SNV
Germline

Chr11:22257732

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

1 SubmittersRCV005218490

NM_001267550.2(TTN):c.35629+2T>G

SNV
Germline

Chr2:178667636

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218546

NM_001267550.2(TTN):c.39973+1G>A

SNV
Germline

Chr2:178649553

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218648

NM_001267550.2(TTN):c.18589+1G>T

SNV
Germline

Chr2:178729663

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005216653

NM_001267550.2(TTN):c.107271C>A (p.Tyr35757Ter)

SNV
Germline

Chr2:178528380

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005216765

NM_001267550.2(TTN):c.25640-2A>G

SNV
Germline

Chr2:178715776

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218821

NM_001267550.2(TTN):c.36043+2T>C

SNV
Germline

Chr2:178665375

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218835

NM_001267550.2(TTN):c.9751C>T (p.Gln3251Ter)

SNV
Germline

Chr2:178764764

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005218855 RCV005291221

NM_001267550.2(TTN):c.53791C>T (p.Gln17931Ter)

SNV
Germline

Chr2:178605504

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218856

NM_001267550.2(TTN):c.39547+1G>T

SNV
Germline

Chr2:178651452

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218867

NM_001267550.2(TTN):c.3769G>T (p.Glu1257Ter)

SNV
Germline

Chr2:178779423

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005216896

NM_013382.7(POMT2):c.1891+1G>A

SNV
Germline

Chr14:77279822

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

1 SubmittersRCV005216978

NM_001267550.2(TTN):c.8642-2A>G

SNV
Germline

Chr2:178769941

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217032

NM_001267550.2(TTN):c.101962C>T (p.Gln33988Ter)

SNV
Germline

Chr2:178534653

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217081

NM_001267550.2(TTN):c.35506A>T (p.Lys11836Ter)

SNV
Germline

Chr2:178669412

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217136

NM_001267550.2(TTN):c.1396C>T (p.Gln466Ter)

SNV
Germline

Chr2:178794401

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005217201

NM_001267550.2(TTN):c.50858-2A>C

SNV
Germline

Chr2:178611273

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212279

NM_001267550.2(TTN):c.27546C>G (p.Tyr9182Ter)

SNV
Germline

Chr2:178712376

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212307

NM_001267550.2(TTN):c.36280+1G>A

SNV
Germline

Chr2:178664459

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212308

NM_001267550.2(TTN):c.13210C>T (p.Gln4404Ter)

SNV
Germline

Chr2:178740023

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005212345 RCV006621271

NM_001267550.2(TTN):c.33095-1G>C

SNV
Germline

Chr2:178681739

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212366

NM_001267550.2(TTN):c.71164C>T (p.Gln23722Ter)

SNV
Germline

Chr2:178574968

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212413

NM_201384.3(PLEC):c.433C>T (p.Gln145Ter)

SNV
Germline

Chr8:143936981

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia

Criteria Provided
Single Submitter

1 SubmittersRCV005212421

NM_021971.4(GMPPB):c.129+1G>A

SNV
Germline

Chr3:49723597

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

1 SubmittersRCV005212472

NM_001267550.2(TTN):c.29041+1G>C

SNV
Germline

Chr2:178707525

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212510

NM_001267550.2(TTN):c.57301A>T (p.Arg19101Ter)

SNV
Germline

Chr2:178597781

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212537

NM_001077365.2(POMT1):c.1236T>A (p.Tyr412Ter)

SNV
Germline

Chr9:131515486

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K

Criteria Provided
Single Submitter

1 SubmittersRCV005212580

NM_001267550.2(TTN):c.51985A>T (p.Lys17329Ter)

SNV
Germline

Chr2:178609325

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212651

NM_001267550.2(TTN):c.104381C>G (p.Ser34794Ter)

SNV
Germline

Chr2:178532234

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212660

NM_001267550.2(TTN):c.79597G>T (p.Glu26533Ter)

SNV
Germline

Chr2:178566535

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220621

NM_001267550.2(TTN):c.45300C>A (p.Tyr15100Ter)

SNV
Germline

Chr2:178621524

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220667

NM_001267550.2(TTN):c.78923G>A (p.Trp26308Ter)

SNV
Germline

Chr2:178567209

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220675

NM_001267550.2(TTN):c.7567G>T (p.Glu2523Ter)

SNV
Germline

Chr2:178773489

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212733

NM_001267550.2(TTN):c.59872G>T (p.Gly19958Ter)

SNV
Germline

Chr2:178592032

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212750

NM_001267550.2(TTN):c.8560C>T (p.Gln2854Ter)

SNV
Germline

Chr2:178770141

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212786

NM_001267550.2(TTN):c.12433G>T (p.Glu4145Ter)

SNV
Germline

Chr2:178740800

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212799

NM_001267550.2(TTN):c.70659G>A (p.Trp23553Ter)

SNV
Germline

Chr2:178575473

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212807

NM_001267550.2(TTN):c.44311A>T (p.Lys14771Ter)

SNV
Germline

Chr2:178629414

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005226431

NM_001267550.2(TTN):c.61720C>T (p.Gln20574Ter)

SNV
Germline

Chr2:178590005

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005226432

NM_213599.3(ANO5):c.1115C>A (p.Ser372Ter)

SNV
Germline

Chr11:22250842

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV005228653

NM_001267550.2(TTN):c.104879G>A (p.Arg34960His)

SNV
Germline

Chr2:178531736

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
not specified

Criteria Provided
Conflicting Classifications

rs_1352552140

2 SubmittersRCV005224405 RCV005406170

NM_001267550.2(TTN):c.53118G>A (p.Trp17706Ter)

SNV
Germline

Chr2:178607570

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005210282

NM_001267550.2(TTN):c.40057+1G>T

SNV
Germline

Chr2:178649247

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005210397

NM_001267550.2(TTN):c.13450G>T (p.Glu4484Ter)

SNV
Germline

Chr2:178739783

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005210432

NM_001267550.2(TTN):c.16904-1G>A

SNV
Germline

Chr2:178731972

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005214029

NM_001267550.2(TTN):c.107680+1G>A

SNV
Germline

Chr2:178527445

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005214102

NM_201384.3(PLEC):c.6538C>T (p.Gln2180Ter)

SNV
Germline

Chr8:143923391

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Single Submitter

1 SubmittersRCV005216418

NM_001267550.2(TTN):c.47034G>A (p.Trp15678Ter)

SNV
Germline

Chr2:178618424

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005214297

NM_001267550.2(TTN):c.46967-1G>C

SNV
Germline

Chr2:178618492

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005214492

NM_213599.3(ANO5):c.817C>A (p.Leu273Ile)

SNV
Germline

Chr11:22239623

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

1 SubmittersRCV005211837

NM_213599.3(ANO5):c.1181-1G>T

SNV
Germline

Chr11:22255370

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

1 SubmittersRCV005211874

NM_001267550.2(TTN):c.45896-1G>A

SNV
Germline

Chr2:178620626

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219885

NM_001267550.2(TTN):c.80788G>T (p.Glu26930Ter)

SNV
Germline

Chr2:178565344

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219908

NM_001267550.2(TTN):c.88742G>A (p.Trp29581Ter)

SNV
Germline

Chr2:178554605

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219937

NM_001267550.2(TTN):c.24226+1G>T

SNV
Germline

Chr2:178719163

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219946

NM_001267550.2(TTN):c.30682+1G>T

SNV
Germline

Chr2:178701119

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005219982

NM_001267550.2(TTN):c.95265G>A (p.Trp31755Ter)

SNV
Germline

Chr2:178545971

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220018

NM_001267550.2(TTN):c.44281+1G>T

SNV
Germline

Chr2:178630240

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220034

NM_001267550.2(TTN):c.89198-1G>A

SNV
Germline

Chr2:178553808

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220083

NM_001267550.2(TTN):c.27306T>A (p.Cys9102Ter)

SNV
Germline

Chr2:178712719

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220091

NM_001267550.2(TTN):c.25270C>T (p.Gln8424Ter)

SNV
Germline

Chr2:178717604

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220093

NM_001267550.2(TTN):c.83383G>T (p.Gly27795Ter)

SNV
Germline

Chr2:178562749

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220096

NM_001267550.2(TTN):c.47606C>G (p.Ser15869Ter)

SNV
Germline

Chr2:178617479

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220116

NM_201384.3(PLEC):c.2920C>T (p.Gln974Ter)

SNV
Germline

Chr8:143929649

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Criteria Provided
Single Submitter

1 SubmittersRCV005220151

NM_001267550.2(TTN):c.93919G>T (p.Gly31307Ter)

SNV
Germline

Chr2:178547707

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220164

NM_001267550.2(TTN):c.92219G>A (p.Trp30740Ter)

SNV
Germline

Chr2:178549407

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220185

NM_001267550.2(TTN):c.40724-1G>C

SNV
Germline

Chr2:178640111

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005212249

NM_001267550.2(TTN):c.50661C>G (p.Tyr16887Ter)

SNV
Germline

Chr2:178611568

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218130

NM_001267550.2(TTN):c.86821+1G>T

SNV
Germline

Chr2:178559310

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218185

NM_001267550.2(TTN):c.90466A>T (p.Lys30156Ter)

SNV
Germline

Chr2:178552434

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218188

NM_001267550.2(TTN):c.64093+1G>T

SNV
Germline

Chr2:178587117

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218200

NM_001267550.2(TTN):c.22624C>T (p.Gln7542Ter)

SNV
Germline

Chr2:178722039

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218246

NM_001267550.2(TTN):c.58879A>T (p.Arg19627Ter)

SNV
Germline

Chr2:178593329

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218256

NM_001267550.2(TTN):c.33826+2T>C

SNV
Germline

Chr2:178678745

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005218262

NM_001267550.2(TTN):c.30598+1G>T

SNV
Germline

Chr2:178701527

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220221

NM_001267550.2(TTN):c.40633+1G>A

SNV
Germline

Chr2:178641240

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220222

NM_001267550.2(TTN):c.47572+1G>A

SNV
Germline

Chr2:178617778

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220267

NM_001267550.2(TTN):c.48672G>A (p.Trp16224Ter)

SNV
Germline

Chr2:178614935

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220284

NM_001267550.2(TTN):c.74613C>A (p.Cys24871Ter)

SNV
Germline

Chr2:178571519

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220326

NM_001267550.2(TTN):c.84567T>A (p.Tyr28189Ter)

SNV
Germline

Chr2:178561565

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220348

NM_001267550.2(TTN):c.71540G>A (p.Trp23847Ter)

SNV
Germline

Chr2:178574592

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220350

NM_001267550.2(TTN):c.62144G>A (p.Trp20715Ter)

SNV
Germline

Chr2:178589581

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220353

NM_001267550.2(TTN):c.33694A>T (p.Lys11232Ter)

SNV
Germline

Chr2:178679387

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220430

NM_001267550.2(TTN):c.68330-5T>C

SNV
Germline

Chr2:178578190

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005220432 RCV005774766

NM_001267550.2(TTN):c.1603C>T (p.Gln535Ter)

SNV
Germline

Chr2:178792131

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005220475

NM_001267550.2(TTN):c.46430-1G>C

SNV
Germline

Chr2:178619888

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005226070

NM_001267550.2(TTN):c.32012-2A>T

SNV
Germline

Chr2:178689138

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005226079

NM_001267550.2(TTN):c.31207+2T>C

SNV
Germline

Chr2:178695863

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005228197

NM_001267550.2(TTN):c.61024G>T (p.Glu20342Ter)

SNV
Germline

Chr2:178590701

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005228249

NM_001267550.2(TTN):c.12172A>T (p.Lys4058Ter)

SNV
Germline

Chr2:178741061

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005228261

NM_001267550.2(TTN):c.100433G>A (p.Trp33478Ter)

SNV
Germline

Chr2:178536314

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005228262 RCV005291226

NM_201384.3(PLEC):c.4771C>T (p.Gln1591Ter)

SNV
Germline

Chr8:143925158

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005228308

NM_001267550.2(TTN):c.46269G>A (p.Trp15423Ter)

SNV
Germline

Chr2:178620252

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223958

NM_001267550.2(TTN):c.61023T>G (p.Tyr20341Ter)

SNV
Germline

Chr2:178590702

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223961

NM_001267550.2(TTN):c.65861T>G (p.Leu21954Ter)

SNV
Germline

Chr2:178582942

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223970

NM_001267550.2(TTN):c.67253T>A (p.Leu22418Ter)

SNV
Germline

Chr2:178580034

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005223985

NM_001267550.2(TTN):c.77098C>T (p.Gln25700Ter)

SNV
Germline

Chr2:178569034

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005224060

NM_001267550.2(TTN):c.25296C>A (p.Cys8432Ter)

SNV
Germline

Chr2:178717578

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005224071

NM_001267550.2(TTN):c.66546T>A (p.Tyr22182Ter)

SNV
Germline

Chr2:178581722

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005224072

NM_001267550.2(TTN):c.100017G>A (p.Trp33339Ter)

SNV
Germline

Chr2:178537092

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005226147

NM_001267550.2(TTN):c.71026C>T (p.Gln23676Ter)

SNV
Germline

Chr2:178575106

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005226208

NM_001267550.2(TTN):c.48227G>A (p.Trp16076Ter)

SNV
Germline

Chr2:178616564

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005226231

NM_001267550.2(TTN):c.57026G>A (p.Trp19009Ter)

SNV
Germline

Chr2:178598591

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005226275

NM_001267550.2(TTN):c.85458C>G (p.Tyr28486Ter)

SNV
Germline

Chr2:178560674

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005226276

NM_013382.7(POMT2):c.232G>T (p.Glu78Ter)

SNV
Germline

Chr14:77320450

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

1 SubmittersRCV005227058

NM_001267550.2(TTN):c.35470+2T>A

SNV
Germline

Chr2:178669590

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005229183

NM_001267550.2(TTN):c.36365-1G>C

SNV
Germline

Chr2:178663903

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005229363

NM_001267550.2(TTN):c.106531G>T (p.Ala35511Ser)

SNV
Germline

Chr2:178529960

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005226979

NM_001267550.2(TTN):c.18417G>A (p.Trp6139Ter)

SNV
Germline

Chr2:178729836

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005224874

NM_201384.3(PLEC):c.9094G>T (p.Glu3032Ter)

SNV
Germline

Chr8:143920727

Pathogenic

Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with nail dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005224494

NM_001267550.2(TTN):c.92525G>A (p.Trp30842Ter)

SNV
Germline

Chr2:178549101

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005222607

NM_001267550.2(TTN):c.28312C>T (p.Arg9438Ter)

SNV
Germline

Chr2:178710785

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005222608

NM_001267550.2(TTN):c.6322G>T (p.Glu2108Ter)

SNV
Germline

Chr2:178775542

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005222609

NM_001267550.2(TTN):c.36281-1G>A

SNV
Germline

Chr2:178664099

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005222650

NM_017739.4(POMGNT1):c.63G>A (p.Trp21Ter)

SNV
Germline

Chr1:46197759

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

1 SubmittersRCV005224632

NM_001267550.2(TTN):c.36280+1G>C

SNV
Germline

Chr2:178664459

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV005222045

NM_001267550.2(TTN):c.68329+2T>C

SNV
Germline

Chr2:178578609

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005222075 RCV005860482

NM_001267550.2(TTN):c.27328+1G>T

SNV
Germline

Chr2:178712696

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005224137

NM_001267550.2(TTN):c.103103T>G (p.Leu34368Ter)

SNV
Germline

Chr2:178533512

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Gastric cancer

Criteria Provided
Single Submitter

2 SubmittersRCV005229420 RCV005939543

NM_001267550.2(TTN):c.36281-1G>C

SNV
Germline

Chr2:178664099

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005222201

NM_001130987.2(DYSF):c.1100G>A (p.Gly367Asp)

SNV
Germline

Chr2:71520855

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

1 SubmittersRCV005255079

NM_001130987.2(DYSF):c.2865-20T>G

SNV
Germline

Chr2:71569800

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

1 SubmittersRCV005255080

NM_001130987.2(DYSF):c.1100G>C (p.Gly367Ala)

SNV
Germline

Chr2:71520855

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

1 SubmittersRCV005255081

NM_001267550.2(TTN):c.10339C>T (p.Gln3447Ter)

SNV
Germline

Chr2:178757881

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV005253544

NM_001130987.2(DYSF):c.5458G>A (p.Gly1820Arg)

SNV
Germline

Chr2:71668754

Likely pathogenic

Miyoshi muscular dystrophy 1
Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

2 SubmittersRCV005254150 RCV005602713

NM_001267550.2(TTN):c.3642T>A (p.Tyr1214Ter)

SNV
Germline

Chr2:178780087

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005254355 RCV006567176

NM_001267550.2(TTN):c.10489C>T (p.Gln3497Ter)

SNV
Germline

Chr2:178757731

Likely pathogenic

Hypertrophic cardiomyopathy 9
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005356916

NM_001267550.2(TTN):c.8843C>A (p.Ser2948Ter)

SNV
Germline

Chr2:178769738

Likely pathogenic

Hypertrophic cardiomyopathy 9
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005356919

NM_001267550.2(TTN):c.13168G>T (p.Glu4390Ter)

SNV
Germline

Chr2:178740065

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005295233 RCV006567297

NM_001267550.2(TTN):c.79618C>T (p.Gln26540Ter)

SNV
Germline

Chr2:178566514

Likely pathogenic

Cardiovascular phenotype
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005299280 RCV006567302

NM_001267550.2(TTN):c.59181G>A (p.Trp19727Ter)

SNV
Germline

Chr2:178592938

Likely pathogenic

Primary dilated cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005402316 RCV006567481

NM_001130987.2(DYSF):c.4755+2T>C

SNV
Unknown

Chr2:71656292

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

1 SubmittersRCV005402335

NM_000070.3(CAPN3):c.1006T>A (p.Tyr336Asn)

SNV
Germline

Chr15:42392699

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005409233

NM_000070.3(CAPN3):c.1913A>C (p.Gln638Pro)

SNV
Germline

Chr15:42408323

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005409437

NM_000070.3(CAPN3):c.499-1G>C

SNV
Germline

Chr15:42387752

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005410113

NM_000070.3(CAPN3):c.1347C>A (p.Asn449Lys)

SNV
Germline

Chr15:42399645

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005410115

NM_013382.7(POMT2):c.296G>T (p.Arg99Leu)

SNV
Germline

Chr14:77311986

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2N

Criteria Provided
Single Submitter

1 SubmittersRCV005410282

NM_000023.4(SGCA):c.157+2T>C

SNV
Germline

Chr17:50167489

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

1 SubmittersRCV005410316

NM_001267550.2(TTN):c.107316C>A (p.Tyr35772Ter)

SNV
Germline

Chr2:178528335

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005410369

NM_000023.4(SGCA):c.747+2T>C

SNV
Germline

Chr17:50169256

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005412149

NM_001927.4(DES):c.569T>C (p.Leu190Pro)

SNV
Germline

Chr2:219419031

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Limb-girdle muscular dystrophy
Desmin-related myofibrillar myopathy

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005557876 RCV005620520 RCV006568236

NM_001130987.2(DYSF):c.4911+1G>A

SNV
Germline

Chr2:71659034

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

1 SubmittersRCV005600407

NM_000070.3(CAPN3):c.632+2T>A

SNV
Germline

Chr15:42387888

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

No Assertion Criteria Provided

1 SubmittersRCV005612085

NM_000070.3(CAPN3):c.2440-1G>T

SNV
Germline

Chr15:42411746

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

No Assertion Criteria Provided

1 SubmittersRCV005612095

NM_001130987.2(DYSF):c.2410-1G>A

SNV
Germline

Chr2:71564057

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

No Assertion Criteria Provided

1 SubmittersRCV005615835

NM_001130987.2(DYSF):c.5643-1G>A

SNV
Germline

Chr2:71669604

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

No Assertion Criteria Provided

1 SubmittersRCV005617414

NM_000023.4(SGCA):c.732G>A (p.Trp244Ter)

SNV
Germline

Chr17:50169239

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

No Assertion Criteria Provided

1 SubmittersRCV005609876

NM_024301.5(FKRP):c.934C>A (p.Arg312Ser)

SNV
Germline

Chr19:46756384

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy

Criteria Provided
Single Submitter

2 SubmittersRCV005613675 RCV006613591

NM_024301.5(FKRP):c.1408G>T (p.Glu470Ter)

SNV
Germline

Chr19:46756858

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2I

No Assertion Criteria Provided

1 SubmittersRCV005613679

NM_000540.3(RYR1):c.14789T>G (p.Leu4930Trp)

SNV
Germline

Chr19:38585085

Likely pathogenic

Limb-girdle muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005622990

NM_182961.4(SYNE1):c.23633A>G (p.Lys7878Arg)

SNV
Germline

Chr6:152164320

Conflicting classifications of pathogenicity

Limb-girdle muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005625946 RCV005632967

NM_000023.4(SGCA):c.671A>C (p.Gln224Pro)

SNV
Germline

Chr17:50169178

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

1 SubmittersRCV005631476

NM_000231.3(SGCG):c.251C>G (p.Ser84Ter)

SNV
Germline

Chr13:23234666

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2C

Criteria Provided
Single Submitter

1 SubmittersRCV005631480

NM_000070.3(CAPN3):c.2047A>T (p.Lys683Ter)

SNV
Germline

Chr15:42409841

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005636242 RCV006484892

NM_001267550.2(TTN):c.15776-2A>G

SNV
Germline

Chr2:178733519

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005634856 RCV006568428

NM_000070.3(CAPN3):c.1699G>A (p.Gly567Arg)

SNV
Unknown

Chr15:42402956

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005637611

NM_000070.3(CAPN3):c.1030-1G>C

SNV
Unknown

Chr15:42394255

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005637612

NM_000070.3(CAPN3):c.2264-1G>A

SNV
Unknown

Chr15:42410883

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005637613

NM_001130987.2(DYSF):c.4306G>C (p.Gly1436Arg)

SNV
Unknown

Chr2:71612725

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005637652

NM_001267550.2(TTN):c.46957A>T (p.Lys15653Ter)

SNV
Germline

Chr2:178618593

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005646823 RCV006568440

NM_000232.5(SGCB):c.753+264A>G

SNV
Germline

Chr4:52027704

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Single Submitter

1 SubmittersRCV005860951

NM_001130987.2(DYSF):c.5318-2A>G

SNV
Germline

Chr2:71667374

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2B

Criteria Provided
Single Submitter

1 SubmittersRCV005859613

NM_001267550.2(TTN):c.35227+1G>A

SNV
Germline

Chr2:178671970

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005859949 RCV006569228

NM_000232.5(SGCB):c.3G>A (p.Met1Ile)

SNV
Germline

Chr4:52038257

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2E

Criteria Provided
Single Submitter

1 SubmittersRCV005885910

NM_000023.4(SGCA):c.191C>A (p.Ala64Asp)

SNV
Germline

Chr17:50167615

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

1 SubmittersRCV005881127

NM_000070.3(CAPN3):c.2380+1G>C

SNV
Germline

Chr15:42411001

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV005882889

NM_000232.5(SGCB):c.543C>G (p.Ser181Arg)

SNV
Germline

Chr4:52028808

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006249064

NM_001130987.2(DYSF):c.3531C>A (p.Tyr1177Ter)

SNV
Germline

Chr2:71590245

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

1 SubmittersRCV006252538

NM_001130987.2(DYSF):c.3085G>C (p.Gly1029Arg)

SNV
Germline

Chr2:71570334

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Reviewed By Expert Panel

1 SubmittersRCV006252539

NM_001267550.2(TTN):c.99289+1G>A

SNV
Germline

Chr2:178538539

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006271091 RCV006569377

NM_213599.3(ANO5):c.876T>G (p.Ile292Met)

SNV
Germline

Chr11:22239682

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

1 SubmittersRCV006271597

NM_001267550.2(TTN):c.62732G>A (p.Trp20911Ter)

SNV
Germline

Chr2:178588993

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006278480 RCV006569398

NM_001267550.2(TTN):c.69616G>T (p.Glu23206Ter)

SNV
Germline

Chr2:178576628

Likely pathogenic

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006351664 RCV006569508

NM_001267550.2(TTN):c.33459C>T (p.Ala11153=)

SNV
Germline

Chr2:178680015

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006437565 RCV006569928

NM_000023.4(SGCA):c.218C>T (p.Pro73Leu)

SNV
Germline

Chr17:50167642

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006457620 RCV006480418

NM_000070.3(CAPN3):c.698G>T (p.Gly233Val)

SNV
Germline

Chr15:42388993

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006459433

NM_000070.3(CAPN3):c.2180G>A (p.Trp727Ter)

SNV
Germline

Chr15:42410492

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV006485497

NM_000023.4(SGCA):c.665G>A (p.Cys222Tyr)

SNV
Germline

Chr17:50169172

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2D

Criteria Provided
Single Submitter

1 SubmittersRCV006510122

NM_021942.6(TRAPPC11):c.766G>T (p.Glu256Ter)

SNV
Germline

Chr4:183677489

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

1 SubmittersRCV006521383

NM_021942.6(TRAPPC11):c.661-2A>G

SNV
Germline

Chr4:183675162

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

1 SubmittersRCV006539825

NM_000337.6(SGCD):c.491T>G (p.Leu164Ter)

SNV
Germline

Chr5:156595040

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2F

Criteria Provided
Single Submitter

1 SubmittersRCV006527323

NM_015602.4(TOR1AIP1):c.797-1G>T

SNV
Germline

Chr1:179907822

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Single Submitter

1 SubmittersRCV006538037

NM_001267550.2(TTN):c.57263-11A>G

SNV
Unknown

Chr2:178597830

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006553821

NM_021942.6(TRAPPC11):c.254G>A (p.Trp85Ter)

SNV
Germline

Chr4:183666306

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type R18

Criteria Provided
Single Submitter

1 SubmittersRCV006579175

NM_001267550.2(TTN):c.61285C>T (p.Gln20429Ter)

SNV
Germline

Chr2:178590440

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602550

NM_001267550.2(TTN):c.76378G>T (p.Gly25460Ter)

SNV
Germline

Chr2:178569754

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006590836

NM_001267550.2(TTN):c.6791-1G>C

SNV
Germline

Chr2:178774474

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006590877

NM_001267550.2(TTN):c.79002G>A (p.Trp26334Ter)

SNV
Germline

Chr2:178567130

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006590944

NM_001267550.2(TTN):c.56844T>A (p.Tyr18948Ter)

SNV
Germline

Chr2:178598866

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006591008

NM_001267550.2(TTN):c.72880G>T (p.Glu24294Ter)

SNV
Germline

Chr2:178573252

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006591036

NM_001267550.2(TTN):c.57000G>A (p.Trp19000Ter)

SNV
Germline

Chr2:178598617

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006591062 RCV006605460

NM_001267550.2(TTN):c.33060T>A (p.Tyr11020Ter)

SNV
Germline

Chr2:178682731

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006591084

NM_001267550.2(TTN):c.91565-1G>T

SNV
Germline

Chr2:178550274

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006591143

NM_001267550.2(TTN):c.64495A>T (p.Lys21499Ter)

SNV
Germline

Chr2:178585249

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006591151

NM_001267550.2(TTN):c.84772C>T (p.Gln28258Ter)

SNV
Germline

Chr2:178561360

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006591169

NM_001267550.2(TTN):c.35119C>T (p.Gln11707Ter)

SNV
Germline

Chr2:178672079

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006591180

NM_001267550.2(TTN):c.62262G>A (p.Trp20754Ter)

SNV
Germline

Chr2:178589463

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006591199

NM_001267550.2(TTN):c.53287+2T>C

SNV
Germline

Chr2:178607399

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006591216

NM_001267550.2(TTN):c.65539G>T (p.Glu21847Ter)

SNV
Germline

Chr2:178583643

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006591230

NM_001267550.2(TTN):c.79048A>T (p.Lys26350Ter)

SNV
Germline

Chr2:178567084

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602772

NM_001267550.2(TTN):c.72757G>T (p.Glu24253Ter)

SNV
Germline

Chr2:178573375

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602791

NM_001267550.2(TTN):c.97102G>T (p.Glu32368Ter)

SNV
Germline

Chr2:178542752

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602836

NM_001267550.2(TTN):c.65452G>T (p.Glu21818Ter)

SNV
Germline

Chr2:178583730

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602854

NM_001267550.2(TTN):c.93444C>G (p.Tyr31148Ter)

SNV
Germline

Chr2:178548182

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602863

NM_001267550.2(TTN):c.64405A>T (p.Lys21469Ter)

SNV
Germline

Chr2:178585339

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602890

NM_001267550.2(TTN):c.4510A>T (p.Lys1504Ter)

SNV
Germline

Chr2:178777555

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602923

NM_001267550.2(TTN):c.97795+1G>A

SNV
Germline

Chr2:178541281

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602928

NM_001267550.2(TTN):c.88894+1G>C

SNV
Germline

Chr2:178554452

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006602963

NM_001267550.2(TTN):c.70368G>A (p.Trp23456Ter)

SNV
Germline

Chr2:178575764

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591321

NM_213599.3(ANO5):c.1332+2T>C

SNV
Germline

Chr11:22255524

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV006591343

NM_001267550.2(TTN):c.14053A>T (p.Lys4685Ter)

SNV
Germline

Chr2:178739180

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591409

NM_001267550.2(TTN):c.87848T>A (p.Leu29283Ter)

SNV
Germline

Chr2:178557414

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591410

NM_001267550.2(TTN):c.92583T>A (p.Cys30861Ter)

SNV
Germline

Chr2:178549043

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006603087

NM_001267550.2(TTN):c.40170T>A (p.Tyr13390Ter)

SNV
Germline

Chr2:178647116

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006603363

NM_201384.3(PLEC):c.4072G>T (p.Glu1358Ter)

SNV
Germline

Chr8:143925857

Pathogenic

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5C, with pyloric atresia
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006601911

NM_001267550.2(TTN):c.102118A>T (p.Lys34040Ter)

SNV
Germline

Chr2:178534497

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006601914

NM_001267550.2(TTN):c.75158G>A (p.Trp25053Ter)

SNV
Germline

Chr2:178570974

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602134

NM_001267550.2(TTN):c.15775+1G>T

SNV
Germline

Chr2:178733613

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602167

NM_001267550.2(TTN):c.10197T>G (p.Tyr3399Ter)

SNV
Germline

Chr2:178759090

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602228

NM_001267550.2(TTN):c.33581-2A>G

SNV
Germline

Chr2:178679684

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602247

NM_001267550.2(TTN):c.89197+1G>A

SNV
Germline

Chr2:178553913

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602286

NM_001267550.2(TTN):c.18433G>T (p.Glu6145Ter)

SNV
Germline

Chr2:178729820

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602309

NM_001267550.2(TTN):c.50857+2T>G

SNV
Germline

Chr2:178611370

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602314

NM_001267550.2(TTN):c.1246-1G>A

SNV
Germline

Chr2:178794552

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602315

NM_001267550.2(TTN):c.89629G>T (p.Glu29877Ter)

SNV
Germline

Chr2:178553271

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602338

NM_001267550.2(TTN):c.52706-2A>C

SNV
Germline

Chr2:178608083

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602375

NM_001267550.2(TTN):c.33910+1G>A

SNV
Germline

Chr2:178678413

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602395

NM_001267550.2(TTN):c.47761-1G>A

SNV
Germline

Chr2:178617235

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006602420 RCV006605458

NM_001267550.2(TTN):c.19360C>T (p.Gln6454Ter)

SNV
Germline

Chr2:178728566

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602432

NM_001267550.2(TTN):c.49465A>T (p.Arg16489Ter)

SNV
Germline

Chr2:178613818

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602482

NM_001267550.2(TTN):c.74938G>T (p.Glu24980Ter)

SNV
Germline

Chr2:178571194

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602493

NM_001267550.2(TTN):c.100238G>A (p.Trp33413Ter)

SNV
Germline

Chr2:178536509

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602511

NM_001077365.2(POMT1):c.699+46C>T

SNV
Germline

Chr9:131510042

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Criteria Provided
Single Submitter

1 SubmittersRCV006598928

NM_001267550.2(TTN):c.66227G>A (p.Trp22076Ter)

SNV
Germline

Chr2:178582142

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598954

NM_001267550.2(TTN):c.6253C>T (p.Gln2085Ter)

SNV
Germline

Chr2:178775611

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598968

NM_001267550.2(TTN):c.54639G>A (p.Trp18213Ter)

SNV
Germline

Chr2:178604048

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006599005

NM_001267550.2(TTN):c.100240A>T (p.Lys33414Ter)

SNV
Germline

Chr2:178536507

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006599011

NM_001267550.2(TTN):c.59036-2A>T

SNV
Germline

Chr2:178593085

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006599025

NM_001267550.2(TTN):c.91+1G>C

SNV
Germline

Chr2:178804551

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006599042

NM_001267550.2(TTN):c.97492+2T>A

SNV
Germline

Chr2:178542262

Pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006599043

NM_001267550.2(TTN):c.36277A>T (p.Lys12093Ter)

SNV
Germline

Chr2:178664463

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006599052

NM_001267550.2(TTN):c.40012G>T (p.Glu13338Ter)

SNV
Germline

Chr2:178649293

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006599072

NM_001267550.2(TTN):c.9114C>G (p.Tyr3038Ter)

SNV
Germline

Chr2:178768722

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006599074

NM_001267550.2(TTN):c.74786G>A (p.Trp24929Ter)

SNV
Germline

Chr2:178571346

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006599081

NM_001267550.2(TTN):c.61939A>T (p.Lys20647Ter)

SNV
Germline

Chr2:178589786

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006599096

NM_001267550.2(TTN):c.64611C>A (p.Tyr21537Ter)

SNV
Germline

Chr2:178585133

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602562

NM_001267550.2(TTN):c.71618G>A (p.Trp23873Ter)

SNV
Germline

Chr2:178574514

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602565

NM_001267550.2(TTN):c.17121C>G (p.Tyr5707Ter)

SNV
Germline

Chr2:178731754

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602599

NM_001267550.2(TTN):c.33247+2T>C

SNV
Germline

Chr2:178681374

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602611

NM_001267550.2(TTN):c.43093G>T (p.Glu14365Ter)

SNV
Germline

Chr2:178633038

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602620

NM_001267550.2(TTN):c.32198-2A>G

SNV
Germline

Chr2:178688226

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602649

NM_001267550.2(TTN):c.45895+1G>C

SNV
Germline

Chr2:178620714

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006599218

NM_213599.3(ANO5):c.1059C>A (p.Cys353Ter)

SNV
Germline

Chr11:22250786

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV006599546

NM_021971.4(GMPPB):c.797G>A (p.Cys266Tyr)

SNV
Germline

Chr3:49722119

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Autosomal recessive limb-girdle muscular dystrophy type 2T

Criteria Provided
Single Submitter

1 SubmittersRCV006598270

NM_213599.3(ANO5):c.1803T>A (p.Cys601Ter)

SNV
Germline

Chr11:22262948

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV006598362

NM_001267550.2(TTN):c.104482G>T (p.Glu34828Ter)

SNV
Germline

Chr2:178532133

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598502

NM_001267550.2(TTN):c.77599C>T (p.Gln25867Ter)

SNV
Germline

Chr2:178568533

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598504

NM_001267550.2(TTN):c.65446C>T (p.Gln21816Ter)

SNV
Germline

Chr2:178583736

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598505

NM_001267550.2(TTN):c.46430-1G>A

SNV
Germline

Chr2:178619888

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598506

NM_001267550.2(TTN):c.6679A>T (p.Lys2227Ter)

SNV
Germline

Chr2:178775032

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598507

NM_001267550.2(TTN):c.3523+1G>C

SNV
Germline

Chr2:178781120

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598508

NM_001267550.2(TTN):c.1390C>T (p.Gln464Ter)

SNV
Germline

Chr2:178794407

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598509

NM_001267550.2(TTN):c.55270-1G>C

SNV
Germline

Chr2:178601915

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598539

NM_001267550.2(TTN):c.68023G>T (p.Glu22675Ter)

SNV
Germline

Chr2:178579007

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598555

NM_001267550.2(TTN):c.48585T>A (p.Cys16195Ter)

SNV
Germline

Chr2:178615360

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598571

NM_001267550.2(TTN):c.54381+1G>A

SNV
Germline

Chr2:178604707

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598611

NM_001267550.2(TTN):c.98831G>A (p.Trp32944Ter)

SNV
Germline

Chr2:178539104

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598618

NM_001267550.2(TTN):c.54916G>T (p.Gly18306Ter)

SNV
Germline

Chr2:178602486

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006602121

NM_001267550.2(TTN):c.1537-1G>T

SNV
Germline

Chr2:178792198

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006595092

NM_001267550.2(TTN):c.55270-1G>A

SNV
Germline

Chr2:178601915

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006595141

NM_001267550.2(TTN):c.93190C>T (p.Gln31064Ter)

SNV
Germline

Chr2:178548436

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006595161

NM_001267550.2(TTN):c.3661G>T (p.Glu1221Ter)

SNV
Germline

Chr2:178780068

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006595162

NM_001267550.2(TTN):c.6030T>G (p.Tyr2010Ter)

SNV
Germline

Chr2:178775834

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006595209

NM_001267550.2(TTN):c.75976G>T (p.Glu25326Ter)

SNV
Germline

Chr2:178570156

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006595210

NM_001267550.2(TTN):c.46696+1G>C

SNV
Germline

Chr2:178619620

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598674

NM_001267550.2(TTN):c.60921T>A (p.Tyr20307Ter)

SNV
Germline

Chr2:178590804

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598705

NM_001267550.2(TTN):c.81723T>G (p.Tyr27241Ter)

SNV
Germline

Chr2:178564409

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598707

NM_001267550.2(TTN):c.17364C>A (p.Tyr5788Ter)

SNV
Germline

Chr2:178731402

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598791

NM_001267550.2(TTN):c.96764T>G (p.Leu32255Ter)

SNV
Germline

Chr2:178543209

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598825

NM_001267550.2(TTN):c.15430G>T (p.Glu5144Ter)

SNV
Germline

Chr2:178734394

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598840

NM_001267550.2(TTN):c.14113A>T (p.Lys4705Ter)

SNV
Germline

Chr2:178738340

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006598912

NM_001267550.2(TTN):c.42255G>A (p.Trp14085Ter)

SNV
Germline

Chr2:178634526

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595330

NM_001267550.2(TTN):c.65490T>G (p.Tyr21830Ter)

SNV
Germline

Chr2:178583692

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595364

NM_001267550.2(TTN):c.9304A>T (p.Arg3102Ter)

SNV
Germline

Chr2:178768015

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595385

NM_001267550.2(TTN):c.73888A>T (p.Arg24630Ter)

SNV
Germline

Chr2:178572244

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595398

NM_001267550.2(TTN):c.63424G>T (p.Glu21142Ter)

SNV
Germline

Chr2:178587983

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595411

NM_001267550.2(TTN):c.73060G>T (p.Glu24354Ter)

SNV
Germline

Chr2:178573072

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595412

NM_001267550.2(TTN):c.67802C>A (p.Ser22601Ter)

SNV
Germline

Chr2:178579228

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595414

NM_001267550.2(TTN):c.60950G>A (p.Trp20317Ter)

SNV
Germline

Chr2:178590775

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595415

NM_001267550.2(TTN):c.65376T>G (p.Tyr21792Ter)

SNV
Germline

Chr2:178583806

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595446

NM_001267550.2(TTN):c.46536G>A (p.Trp15512Ter)

SNV
Germline

Chr2:178619781

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595604

NM_001267550.2(TTN):c.62067G>A (p.Trp20689Ter)

SNV
Germline

Chr2:178589658

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595655

NM_001267550.2(TTN):c.28174+1G>A

SNV
Germline

Chr2:178711061

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006595663

NM_001267550.2(TTN):c.35629+1G>T

SNV
Germline

Chr2:178667637

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006592184

NM_001267550.2(TTN):c.40223-2A>G

SNV
Germline

Chr2:178646561

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006592224

NM_001267550.2(TTN):c.81370A>T (p.Lys27124Ter)

SNV
Germline

Chr2:178564762

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006592281

NM_001267550.2(TTN):c.19147+1G>A

SNV
Germline

Chr2:178728890

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006595871

NM_001267550.2(TTN):c.36110C>A (p.Ser12037Ter)

SNV
Germline

Chr2:178664860

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006595876

NM_001267550.2(TTN):c.20555-2A>G

SNV
Germline

Chr2:178725651

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006595886

NM_001267550.2(TTN):c.42025-1G>A

SNV
Germline

Chr2:178634850

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006595939

NM_001267550.2(TTN):c.35101G>T (p.Glu11701Ter)

SNV
Germline

Chr2:178672097

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006603843

NM_001267550.2(TTN):c.92373T>A (p.Tyr30791Ter)

SNV
Germline

Chr2:178549253

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006594502

NM_001267550.2(TTN):c.25639G>T (p.Glu8547Ter)

SNV
Germline

Chr2:178717095

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006591235

NM_001267550.2(TTN):c.40928-1G>A

SNV
Germline

Chr2:178636800

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006591254

NM_001267550.2(TTN):c.103801G>T (p.Glu34601Ter)

SNV
Germline

Chr2:178532814

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006591285

NM_001267550.2(TTN):c.79789G>T (p.Glu26597Ter)

SNV
Germline

Chr2:178566343

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006591292

NM_001267550.2(TTN):c.81937G>T (p.Gly27313Ter)

SNV
Germline

Chr2:178564195

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006591296

NM_001267550.2(TTN):c.46129C>T (p.Gln15377Ter)

SNV
Germline

Chr2:178620392

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006594751

NM_001267550.2(TTN):c.64972+2T>C

SNV
Germline

Chr2:178584667

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006594770

NM_001267550.2(TTN):c.63508+1G>T

SNV
Germline

Chr2:178587898

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006594771

NM_001267550.2(TTN):c.68068A>T (p.Lys22690Ter)

SNV
Germline

Chr2:178578962

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006594785

NM_001267550.2(TTN):c.57262+1G>T

SNV
Germline

Chr2:178597907

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006594847

NM_001267550.2(TTN):c.75430C>T (p.Gln25144Ter)

SNV
Germline

Chr2:178570702

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006594887

NM_001267550.2(TTN):c.62242G>T (p.Glu20748Ter)

SNV
Germline

Chr2:178589483

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006594949

NM_001267550.2(TTN):c.91564+1G>T

SNV
Germline

Chr2:178550966

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006594973

NM_001267550.2(TTN):c.87118+1G>C

SNV
Germline

Chr2:178558340

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006594974

NM_201384.3(PLEC):c.4594C>T (p.Gln1532Ter)

SNV
Germline

Chr8:143925335

Pathogenic

Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex 5C, with pyloric atresia
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006594997

NM_001267550.2(TTN):c.90938C>A (p.Ser30313Ter)

SNV
Germline

Chr2:178551962

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006595019

NM_001267550.2(TTN):c.14066C>G (p.Ser4689Ter)

SNV
Germline

Chr2:178739167

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006595054

NM_001267550.2(TTN):c.81588T>A (p.Tyr27196Ter)

SNV
Germline

Chr2:178564544

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006595055

NM_001267550.2(TTN):c.32217G>A (p.Trp10739Ter)

SNV
Germline

Chr2:178688205

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006595067

NM_001267550.2(TTN):c.78966T>A (p.Tyr26322Ter)

SNV
Germline

Chr2:178567166

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006595072

NM_001267550.2(TTN):c.78937C>T (p.Gln26313Ter)

SNV
Germline

Chr2:178567195

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591443

NM_001267550.2(TTN):c.94828+1G>A

SNV
Germline

Chr2:178546599

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591495

NM_001267550.2(TTN):c.4815-1G>A

SNV
Germline

Chr2:178777050

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591515

NM_001267550.2(TTN):c.80012C>A (p.Ser26671Ter)

SNV
Germline

Chr2:178566120

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591533

NM_001267550.2(TTN):c.69776T>A (p.Leu23259Ter)

SNV
Germline

Chr2:178576356

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591567

NM_001267550.2(TTN):c.89504-1G>A

SNV
Germline

Chr2:178553397

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591581

NM_001267550.2(TTN):c.4619C>A (p.Ser1540Ter)

SNV
Germline

Chr2:178777446

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591587

NM_001267550.2(TTN):c.31271-1G>A

SNV
Germline

Chr2:178694907

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591599

NM_001267550.2(TTN):c.49726G>T (p.Glu16576Ter)

SNV
Germline

Chr2:178612995

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591600

NM_001267550.2(TTN):c.25002T>G (p.Tyr8334Ter)

SNV
Germline

Chr2:178718004

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591648

NM_001267550.2(TTN):c.98425C>T (p.Gln32809Ter)

SNV
Germline

Chr2:178539640

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591655

NM_001267550.2(TTN):c.3345G>A (p.Trp1115Ter)

SNV
Germline

Chr2:178782247

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591665

NM_001267550.2(TTN):c.77917C>T (p.Gln25973Ter)

SNV
Germline

Chr2:178568215

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591713

NM_001267550.2(TTN):c.81843T>G (p.Tyr27281Ter)

SNV
Germline

Chr2:178564289

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591737

NM_001267550.2(TTN):c.78598A>T (p.Arg26200Ter)

SNV
Germline

Chr2:178567534

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591746

NM_001267550.2(TTN):c.11952C>G (p.Tyr3984Ter)

SNV
Germline

Chr2:178741281

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591754

NM_001267550.2(TTN):c.84567T>G (p.Tyr28189Ter)

SNV
Germline

Chr2:178561565

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591783

NM_001267550.2(TTN):c.89503G>T (p.Glu29835Ter)

SNV
Germline

Chr2:178553502

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006591785

NM_001267550.2(TTN):c.32555-1G>T

SNV
Germline

Chr2:178684750

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006603577

NM_001267550.2(TTN):c.39211+2T>C

SNV
Germline

Chr2:178652262

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006592598

NM_001267550.2(TTN):c.40633+1G>T

SNV
Germline

Chr2:178641240

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006592703

NM_001267550.2(TTN):c.105288T>A (p.Tyr35096Ter)

SNV
Germline

Chr2:178531327

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006596282

NM_001267550.2(TTN):c.39565G>T (p.Glu13189Ter)

SNV
Germline

Chr2:178651303

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006592840

NM_001267550.2(TTN):c.10012C>T (p.Gln3338Ter)

SNV
Germline

Chr2:178764279

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006593091

NM_001267550.2(TTN):c.65117G>A (p.Trp21706Ter)

SNV
Germline

Chr2:178584434

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006593283

NM_001267550.2(TTN):c.39547+1G>C

SNV
Germline

Chr2:178651452

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006592334

NM_001267550.2(TTN):c.102561C>A (p.Tyr34187Ter)

SNV
Germline

Chr2:178534054

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006604156

NM_001267550.2(TTN):c.97677C>A (p.Tyr32559Ter)

SNV
Germline

Chr2:178541400

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006592804

NM_001267550.2(TTN):c.47757C>A (p.Tyr15919Ter)

SNV
Germline

Chr2:178617328

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006604686

NM_001267550.2(TTN):c.11651T>A (p.Leu3884Ter)

SNV
Germline

Chr2:178741582

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006600324

NM_001267550.2(TTN):c.19148-2A>G

SNV
Germline

Chr2:178728780

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006600578

NM_001267550.2(TTN):c.39296-2A>C

SNV
Germline

Chr2:178651969

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006604056

NM_001267550.2(TTN):c.98832G>A (p.Trp32944Ter)

SNV
Germline

Chr2:178539103

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006604124

NM_001267550.2(TTN):c.12772C>T (p.Gln4258Ter)

SNV
Germline

Chr2:178740461

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006600689

NM_013382.7(POMT2):c.1006+1G>C

SNV
Germline

Chr14:77298688

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Criteria Provided
Single Submitter

1 SubmittersRCV006600751

NM_213599.3(ANO5):c.2427C>G (p.Tyr809Ter)

SNV
Germline

Chr11:22276106

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

1 SubmittersRCV006600782

NM_001267550.2(TTN):c.54956G>A (p.Trp18319Ter)

SNV
Germline

Chr2:178602446

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006600793

NM_001267550.2(TTN):c.21682+1G>T

SNV
Germline

Chr2:178723417

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006600841

NM_001267550.2(TTN):c.40138G>T (p.Glu13380Ter)

SNV
Germline

Chr2:178647384

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006600843

NM_001267550.2(TTN):c.51781C>T (p.Arg17261Ter)

SNV
Germline

Chr2:178609529

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006597435

NM_001267550.2(TTN):c.46356C>A (p.Cys15452Ter)

SNV
Germline

Chr2:178620061

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006597498

NM_001101426.4(CRPPA):c.1120-1G>A

SNV
Germline

Chr7:16216198

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Single Submitter

1 SubmittersRCV006600137

NM_001267550.2(TTN):c.69364A>T (p.Lys23122Ter)

SNV
Germline

Chr2:178576971

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006600172

NM_001267550.2(TTN):c.35629+1G>A

SNV
Germline

Chr2:178667637

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006600278

NM_001267550.2(TTN):c.67438G>T (p.Gly22480Ter)

SNV
Germline

Chr2:178579759

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006596967

NM_213599.3(ANO5):c.271A>T (p.Lys91Ter)

SNV
Germline

Chr11:22221187

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

1 SubmittersRCV006596968

NM_001267550.2(TTN):c.98529G>A (p.Trp32843Ter)

SNV
Germline

Chr2:178539536

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G

Criteria Provided
Single Submitter

1 SubmittersRCV006597045

NM_001267550.2(TTN):c.19714+1G>A

SNV
Germline

Chr2:178728109

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006593555

NM_001101426.4(CRPPA):c.790-1G>A

SNV
Germline

Chr7:16301467

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Criteria Provided
Single Submitter

1 SubmittersRCV006593588

NM_001267550.2(TTN):c.45550C>T (p.Gln15184Ter)

SNV
Germline

Chr2:178621168

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Single Submitter

1 SubmittersRCV006597196

NM_015602.4(TOR1AIP1):c.373C>T (p.Arg125Ter)

SNV
Germline

Chr1:179882875

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2Y

Criteria Provided
Single Submitter

1 SubmittersRCV006615868