Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_020451.3(SELENON):c.1A>G (p.Met1Val)	SNV Germline	Chr1:25800231	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy Condition: not provided Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA253168	rs_121908184	5 SubmittersRCV000004748 RCV000482307 RCV002288464 RCV002504747
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	SNV Germline	Chr1:25809753	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy Condition: not provided Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy SEPN1-related disorder SELENON-related myopathy Eichsfeld type congenital muscular dystrophy Congenital myopathy 4A, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA223589	rs_121908188	21 SubmittersRCV000004754 RCV000004753 RCV000082020 RCV000681664 RCV000778235 RCV003993737 RCV003224794
NM_152263.4(TPM3):c.26T>G (p.Met9Arg)	SNV Germline	Chr1:154191993	Pathogenic	Congenital myopathy 4B, autosomal recessive Condition: not provided Congenital myopathy 4A, autosomal dominant	No Assertion Criteria Provided	CA232675	rs_80358247	3 SubmittersRCV000013259 RCV000128695 RCV003151723
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser)	SNV Germline	Chr1:154167938	Likely pathogenic	Congenital myopathy 4B, autosomal recessive Condition: not provided Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA232703	rs_199474720	4 SubmittersRCV000013260 RCV000128708 RCV000707046
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter)	SNV Germline	Chr1:154191925	Pathogenic	Congenital myopathy 4B, autosomal recessive Condition: not provided Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy 4A, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA232705	rs_80358248	5 SubmittersRCV000013262 RCV000128709 RCV003764563 RCV004562204
NM_152263.4(TPM3):c.503G>A (p.Arg168His)	SNV Germline	Chr1:154172971	Pathogenic	Congenital myopathy 4A, autosomal dominant Congenital myopathy 4B, autosomal recessive Condition: not provided Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive See cases	Criteria Provided Multiple Submitters No Conflicts	CA144541	rs_121964852	10 SubmittersRCV000054415 RCV000013263 RCV000128701 RCV000537032 RCV001420249
NM_152263.4(TPM3):c.298C>A (p.Leu100Met)	SNV Germline	Chr1:154176194	Pathogenic	Congenital myopathy with fiber type disproportion Condition: not provided Congenital myopathy 4A, autosomal dominant	No Assertion Criteria Provided	CA232679	rs_121964853	3 SubmittersRCV000013267 RCV000128697 RCV003151724
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)	SNV Germline	Chr1:154172972	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion Condition: not provided Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy 4A, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA232686	rs_121964854	6 SubmittersRCV000013268 RCV000128699 RCV000226212 RCV001382225 RCV003151725
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)	SNV Germline	Chr1:154172972	Pathogenic	Congenital myopathy with fiber type disproportion Congenital myopathy 4A, autosomal dominant Condition: not provided Inborn genetic diseases Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA144544	rs_121964854	10 SubmittersRCV000013269 RCV000054416 RCV000128700 RCV000624745 RCV000637291
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)	SNV Germline	Chr9:35685672	Pathogenic	Congenital myopathy 23 Condition: not provided Arthrogryposis, distal, type 1A	Criteria Provided Multiple Submitters No Conflicts	CA232643	rs_104894129	6 SubmittersRCV000013278 RCV000128681 RCV000531827
NM_003289.4(TPM2):c.121G>A (p.Glu41Lys)	SNV Germline	Chr9:35689265	Pathogenic	Congenital myopathy 23 Condition: not provided Arthrogryposis, distal, type 1A	Criteria Provided Single Submitter	CA232622	rs_137853306	3 SubmittersRCV000013280 RCV000128672 RCV001206319
NM_003289.4(TPM2):c.606C>G (p.Asn202Lys)	SNV Germline	Chr9:35684765	Pathogenic	Condition: not provided Congenital myopathy 23	No Assertion Criteria Provided	CA122421	rs_137853307	2 SubmittersRCV000128687 RCV003231101
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	SNV Germline	Chr19:38457545	Pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Inborn genetic diseases Malignant hyperthermia of anesthesia enflurane response - Toxicity succinylcholine response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity desflurane response - Toxicity King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Reviewed By Expert Panel	CA024311	rs_118192172	27 SubmittersRCV000013830 RCV000119586 RCV000538121 RCV000624176 RCV000608635 RCV001787389 RCV001787394 RCV001787390 RCV001787391 RCV001787392 RCV001787393 RCV001787388 RCV002496349
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	SNV Germline	Chr19:38500654	Likely pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Condition: not provided Malignant hyperthermia of anesthesia RYR1-related disorder sevoflurane response - Toxicity desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity succinylcholine response - Toxicity King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Reviewed By Expert Panel	CA024784	rs_28933397	11 SubmittersRCV000013838 RCV000119711 RCV000614410 RCV000796565 RCV001787731 RCV001787726 RCV001787727 RCV001787728 RCV001787729 RCV001787730 RCV001787732 RCV002490361
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	SNV Germline	Chr19:38443612	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024392	rs_118192173	15 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV002496350 RCV003447473 RCV003996093
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	SNV Germline	Chr19:38499961	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Lower limb amyotrophy EMG abnormality Clubfoot RYR1-related disorder Condition: not provided Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease	Criteria Provided Conflicting Classifications	CA024732	rs_118192174	10 SubmittersRCV000013861 RCV000415169 RCV001851835 RCV000119694 RCV001197410 RCV002504782 RCV003996094 RCV004017243
NM_000208.4(INSR):c.3034G>A (p.Val1012Met)	SNV Germline	Chr19:7125507	Conflicting classifications of pathogenicity	Type 2 diabetes mellitus not specified Insulin-resistant diabetes mellitus AND acanthosis nigricans Monogenic diabetes Condition: not provided Leprechaunism syndrome Rabson-Mendenhall syndrome Bailey-Bloch congenital myopathy	Criteria Provided Conflicting Classifications	CA124262	rs_1799816	12 SubmittersRCV000015822 RCV000175131 RCV000344820 RCV000445519 RCV000515071 RCV001132183 RCV001132184 RCV001258250
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)	SNV Germline	Chr7:143321841	Pathogenic	Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal recessive form CLCN1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA258012	rs_80356700	12 SubmittersRCV000019084 RCV000020113 RCV000291823 RCV000627758 RCV003317041 RCV004532391
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu)	SNV Germline	Chr7:143339290	Pathogenic	Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Single Submitter	CA258018	rs_80356694	3 SubmittersRCV000019089 RCV000020101 RCV001237767
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)	SNV Germline	Chr7:143342001	Pathogenic/Likely pathogenic	Myotonia levior Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal dominant form	Criteria Provided Multiple Submitters No Conflicts	CA127249	rs_80356696	7 SubmittersRCV000019090 RCV000020103 RCV000498537 RCV000685420 RCV001253100
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)	SNV Germline	Chr7:143330788	Pathogenic	Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Myotonia Condition: not provided Congenital myotonia, autosomal recessive form CLCN1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA258020	rs_80356690	6 SubmittersRCV000019091 RCV000020117 RCV000690053 RCV000626584 RCV000711241 RCV001196224 RCV004528125
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	SNV Germline	Chr7:143330868	Pathogenic/Likely pathogenic	Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy Condition: not provided 6 conditions Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Multiple Submitters No Conflicts	CA258024	rs_80356702	11 SubmittersRCV000019094 RCV000019095 RCV000020121 RCV000516960 RCV000626585 RCV000763169
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	SNV Germline	Chr7:143351678	Pathogenic/Likely pathogenic	Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form EMG: myopathic abnormalities Myopathy Tip-toe gait Cerebral palsy Abnormality of the musculature	Criteria Provided Multiple Submitters No Conflicts	CA258028	rs_55960271	26 SubmittersRCV000019099 RCV000020107 RCV000019098 RCV000292791 RCV000627759 RCV000626582 RCV001564017 RCV001794458 RCV001813999
NM_000083.3(CLCN1):c.382A>G (p.Met128Val)	SNV Germline	Chr7:143320744	Likely pathogenic	Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Single Submitter	CA258030	rs_80356699	3 SubmittersRCV000019100 RCV000020109 RCV001049292
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)	SNV Germline	Chr1:201053538	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA004054	rs_28930068	14 SubmittersRCV000019190 RCV000414086 RCV000627793 RCV003450645 RCV003992159
NM_001100.4(ACTA1):c.287T>C (p.Leu96Pro)	SNV Germline	Chr1:229432723	Pathogenic/Likely pathogenic	Actin accumulation myopathy Congenital myopathy 2b, severe infantile, autosomal recessive ACTA1-related myopathies	Criteria Provided Multiple Submitters No Conflicts	CA258130	rs_121909519	3 SubmittersRCV000019941 RCV003151730 RCV001731311
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg)	SNV Germline	Chr1:229433067	Pathogenic/Likely pathogenic	Condition: not provided Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA128029	rs_121909521	3 SubmittersRCV002510771 RCV003151731
NM_001100.4(ACTA1):c.493G>T (p.Val165Leu)	SNV Germline	Chr1:229432393	Pathogenic	Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant	No Assertion Criteria Provided	CA258134	rs_121909522	1 SubmittersRCV000019944 RCV003227607
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)	SNV Germline	Chr1:229432020	Pathogenic/Likely pathogenic	Actin accumulation myopathy ACTA1-related myopathies Condition: not provided Congenital myopathy 2b, severe infantile, autosomal recessive Congenital myopathy with fiber type disproportion Actin accumulation myopathy Progressive scapulohumeroperoneal distal myopathy	Criteria Provided Multiple Submitters No Conflicts	CA258136	rs_121909523	5 SubmittersRCV000019945 RCV001270724 RCV001804741 RCV003151732 RCV002504811
NM_001100.4(ACTA1):c.1075A>C (p.Ile359Leu)	SNV Germline	Chr1:229431558	Pathogenic	Congenital myopathy 2c, severe infantile, autosomal dominant	No Assertion Criteria Provided	CA258138	rs_121909524	1 SubmittersRCV003151733
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)	SNV Germline	Chr1:229431830	Pathogenic	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant	No Assertion Criteria Provided	CA341495	rs_121909529	3 SubmittersRCV000019951 RCV001028007 RCV003151734
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro)	SNV Germline	Chr1:229432134	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Congenital myopathy 2c, severe infantile, autosomal dominant Actin accumulation myopathy	Criteria Provided Conflicting Classifications	CA341497	rs_121909530	4 SubmittersRCV000019952 RCV003151735 RCV001851954
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser)	SNV Germline	Chr1:229431633	Likely pathogenic	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Single Submitter	CA341499	rs_121909531	3 SubmittersRCV000019953 RCV002513127 RCV003151736
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)	SNV Germline	Chr7:143341938	Pathogenic	Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Condition: not provided Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy	Criteria Provided Multiple Submitters No Conflicts	CA341539	rs_80356704	8 SubmittersRCV000638249 RCV000711222 RCV002267607 RCV000020102
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)	SNV Germline	Chr7:143330838	Pathogenic	Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Condition: not provided Congenital myotonia, autosomal dominant form CLCN1-related disorder Congenital myotonia, autosomal recessive form	Criteria Provided Multiple Submitters No Conflicts	CA341557	rs_80356701	9 SubmittersRCV000020118 RCV000477848 RCV000483128 RCV002243656 RCV004541011 RCV004562217
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met)	SNV Germline	Chr7:143330847	Pathogenic	Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy	Criteria Provided Multiple Submitters No Conflicts	CA341559	rs_80356691	4 SubmittersRCV000516849 RCV002514123 RCV001823101 RCV000020119
NM_001256545.2(MEGF10):c.2320T>C (p.Cys774Arg)	SNV Germline	Chr5:127440825	Pathogenic/Likely pathogenic	Congenital myopathy 10b, mild variant MEGF10-related myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129572	rs_387907072	4 SubmittersRCV000023956 RCV000023955 RCV003156219
NM_001256545.2(MEGF10):c.976T>C (p.Cys326Arg)	SNV Germline	Chr5:127410447	Pathogenic	Congenital myopathy 10b, mild variant MEGF10-related myopathy	Criteria Provided Single Submitter	CA129574	rs_387907073	2 SubmittersRCV000023957 RCV001385515
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)	SNV Germline	Chr19:38519399	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Condition: not provided Central core myopathy not specified RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA023822	rs_367543058	11 SubmittersRCV000034925 RCV000147397 RCV000233916 RCV000401146 RCV000529599 RCV003996181
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)	SNV Unknown	Chr19:38451846	Pathogenic	Congenital myopathy with fiber type disproportion Condition: not provided Central core myopathy	No Assertion Criteria Provided	CA023960	rs_118192117	2 SubmittersRCV000034926 RCV000119451 RCV000056214
NM_000540.3(RYR1):c.5333C>A (p.Ser1778Ter)	SNV Germline	Chr19:38485988	Pathogenic	Congenital myopathy with fiber type disproportion RYR1-related disorder	Criteria Provided Single Submitter	CA024506	rs_367543055	2 SubmittersRCV000034928 RCV003591635
NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys)	SNV Germline	Chr19:38517651	Likely pathogenic	Congenital myopathy with fiber type disproportion RYR1-related disorder	Criteria Provided Single Submitter	CA025011	rs_367543057	2 SubmittersRCV000034932 RCV001363318
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp)	SNV Germline	Chr1:229432867	Pathogenic	Congenital myopathy with fiber type disproportion Actin accumulation myopathy	Criteria Provided Single Submitter	CA344554	rs_367543049	2 SubmittersRCV000034933 RCV000807360
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)	SNV Germline	Chr1:229433100	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion Progressive scapulohumeroperoneal distal myopathy Actin accumulation myopathy	Criteria Provided Multiple Submitters No Conflicts	CA344557	rs_367543048	3 SubmittersRCV000034934 RCV001198948 RCV000693406
NM_001100.4(ACTA1):c.984G>C (p.Lys328Asn)	SNV Germline	Chr1:229431727	Pathogenic	Congenital myopathy 2c, severe infantile, autosomal dominant	No Assertion Criteria Provided	CA263209	rs_398122936	1 SubmittersRCV003151741
NM_000540.3(RYR1):c.10348-6C>G	SNV Germline	Chr19:38523211	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Inborn genetic diseases King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome	Criteria Provided Conflicting Classifications	CA023836	rs_193922837	14 SubmittersRCV000119410 RCV000535801 RCV000624604 RCV001249074 RCV001775081 RCV003997313 RCV002477304
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)	SNV Germline	Chr19:38500898	Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder Inborn genetic diseases Congenital myopathy with fiber type disproportion Abnormality of the musculature King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024819	rs_118192178	12 SubmittersRCV000056228 RCV000119718 RCV000552166 RCV000624571 RCV001198416 RCV001814037 RCV001731347 RCV002281900
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)	SNV Germline	Chr19:38584973	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024220	rs_118192150	8 SubmittersRCV000056236 RCV000119545 RCV001046476 RCV002496742 RCV003996489
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)	SNV Germline	Chr12:57244322	Pathogenic/Likely pathogenic	Bailey-Bloch congenital myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA145329	rs_140291094	16 SubmittersRCV000074400 RCV001093315
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)	SNV Germline	Chr19:38494436	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy King Denborough syndrome Congenital myopathy with fiber type disproportion RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024569	rs_398123473	5 SubmittersRCV000079157 RCV002490686 RCV002515759 RCV003997199
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg)	SNV Germline	Chr1:25800333	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy Condition: not provided SEPN1-related disorder Congenital myopathy with fiber type disproportion Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA223578	rs_398124359	10 SubmittersRCV000558595 RCV000723675 RCV001097299 RCV001329140 RCV003162515 RCV003398680
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)	SNV Germline	Chr1:25815599	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy Condition: not provided SEPN1-related disorder Congenital myopathy with fiber type disproportion not specified	Criteria Provided Conflicting Classifications	CA223586	rs_200128474	10 SubmittersRCV000542565 RCV000723596 RCV001097379 RCV001329142 RCV003398681
NM_001100.4(ACTA1):c.132C>T (p.Gly44=)	SNV Germline	Chr1:229432878	Conflicting classifications of pathogenicity	not specified Actin accumulation myopathy Congenital myopathy with fiber type disproportion Familial restrictive cardiomyopathy	Criteria Provided Conflicting Classifications	CA151565	rs_146956806	4 SubmittersRCV000116219 RCV000639671 RCV001098142 RCV001098143
NM_001378030.1(CCDC78):c.966C>A (p.Asn322Lys)	SNV Germline	Chr16:724193	Conflicting classifications of pathogenicity	Condition: not provided Congenital myopathy with internal nuclei and atypical cores	Criteria Provided Conflicting Classifications	CA230972	rs_148595483	3 SubmittersRCV000116606 RCV001082148
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)	SNV Germline	Chr19:38543551	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Central core myopathy not specified See cases RYR1-related myopathy	Criteria Provided Conflicting Classifications	CA023938	rs_147136339	21 SubmittersRCV000119441 RCV000148797 RCV000655533 RCV000764196 RCV001331321 RCV003398723 RCV002251988 RCV003993810
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)	SNV Germline	Chr19:38577955	Pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome	Reviewed By Expert Panel	CA024118	rs_193922868	10 SubmittersRCV000119503 RCV003231155 RCV001380753 RCV002498548
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	SNV Germline	Chr19:38586140	Likely pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Malignant hyperthermia of anesthesia Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome	Reviewed By Expert Panel	CA024276	rs_146876145	21 SubmittersRCV000119571 RCV000148804 RCV000554319 RCV000605381 RCV001249254 RCV001729396 RCV002505053
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)	SNV Germline	Chr19:38457546	Pathogenic; drug response	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity halothane response - Toxicity enflurane response - Toxicity isoflurane response - Toxicity Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome	Reviewed By Expert Panel	CA024313	rs_193922772	7 SubmittersRCV000119587 RCV001068141 RCV001705880 RCV002222024 RCV002222025 RCV002222026 RCV002222020 RCV002222022 RCV002222021 RCV002222023 RCV002477305
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	SNV Germline	Chr19:38485838	Likely pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Malignant hyperthermia of anesthesia Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome	Reviewed By Expert Panel	CA024494	rs_193922781	14 SubmittersRCV000119633 RCV000148807 RCV001057054 RCV001449805 RCV001265978 RCV002505055
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)	SNV Germline	Chr19:38496901	Likely pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 1 not specified RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Malignant hyperthermia of anesthesia	Reviewed By Expert Panel	CA024651	rs_193922797	12 SubmittersRCV000119670 RCV000185536 RCV000502398 RCV000691232 RCV002492409 RCV003323407
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	SNV Germline	Chr19:38499670	Pathogenic; drug response	Condition: not provided Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity desflurane response - Toxicity enflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia of anesthesia	Reviewed By Expert Panel	CA024693	rs_193922803	11 SubmittersRCV000119682 RCV000763425 RCV000578408 RCV000803469 RCV001787995 RCV001787996 RCV001787997 RCV001787998 RCV001787993 RCV001787994 RCV001787999 RCV002281944 RCV004017408
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)	SNV Germline	Chr19:38499975	Likely pathogenic; drug response	Condition: not provided Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity halothane response - Toxicity Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Inborn genetic diseases enflurane response - Toxicity isoflurane response - Toxicity Malignant hyperthermia, susceptibility to	Reviewed By Expert Panel	CA024738	rs_193922809	13 SubmittersRCV000119695 RCV001127650 RCV001127649 RCV001236218 RCV001788011 RCV001788012 RCV001788013 RCV001788007 RCV001788009 RCV001127651 RCV002492410 RCV004019662 RCV001788008 RCV001788010 RCV004556734
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)	SNV Germline	Chr19:38499984	Likely pathogenic	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024744	rs_193922810	6 SubmittersRCV000119697 RCV001216014 RCV001197604 RCV001802868
NM_014241.4(HACD1):c.744C>A (p.Tyr248Ter)	SNV Germline	Chr10:17594245	Pathogenic	Congenital myopathy 11	No Assertion Criteria Provided	CA249437	rs_606231257	1 SubmittersRCV002269927
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	SNV Germline	Chr19:38496466	Conflicting classifications of pathogenicity	Condition: not provided Multi-minicore disease and atypical periodic paralysis Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease Central core myopathy RYR1-related disorder Hydrops fetalis Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA024643	rs_200563280	23 SubmittersRCV000147436 RCV000148787 RCV000171129 RCV000178453 RCV000263175 RCV000525302 RCV001257398 RCV001530191 RCV002505131
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)	SNV Germline	Chr19:38459253	Conflicting classifications of pathogenicity	Myopathy, RYR1-associated not specified Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided Inborn genetic diseases Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA024341	rs_147320363	17 SubmittersRCV000148816 RCV000153861 RCV000210004 RCV000533102 RCV000723802 RCV002514856 RCV002492546
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)	SNV Germline	Chr19:38466176	Conflicting classifications of pathogenicity	Congenital myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA024378	rs_150993059	8 SubmittersRCV000148809 RCV000209988 RCV000655531 RCV001565509 RCV002265625
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	SNV Germline	Chr19:38477821	Conflicting classifications of pathogenicity	Congenital myopathy Condition: not provided RYR1-related disorder not specified Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Congenital myopathy with fiber type disproportion Neuromuscular disease Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024441	rs_200546266	15 SubmittersRCV000148819 RCV000520385 RCV000534955 RCV000501380 RCV000855482 RCV001198313 RCV004017422 RCV003998172
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)	SNV Germline	Chr19:38543420	Pathogenic/Likely pathogenic	Congenital myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Inborn genetic diseases Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA023934	rs_377178986	9 SubmittersRCV000148788 RCV000721251 RCV000704053 RCV000990206 RCV001266922 RCV001795258 RCV002478416
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	SNV Germline	Chr14:23424876	Pathogenic/Likely pathogenic	Condition: not provided Myopathy Hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy Congenital myopathy with fiber type disproportion Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy 1 Cardiomyopathy Dilated cardiomyopathy 1S Myopathy, myosin storage, autosomal recessive Cardiovascular phenotype 6 conditions Myosin storage myopathy MYH7-related skeletal myopathy	Criteria Provided Multiple Submitters No Conflicts	CA012656	rs_2754158	17 SubmittersRCV000225738 RCV000415053 RCV000201448 RCV000457606 RCV001198295 RCV003448270 RCV001524491 RCV003333029 RCV003333031 RCV002453490 RCV002505152 RCV003333032 RCV003333030
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)	SNV Germline	Chr14:23426810	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy Cardiomyopathy Cardiovascular phenotype Condition: not provided Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy 1	Criteria Provided Conflicting Classifications	CA011560	rs_727503263	9 SubmittersRCV000461116 RCV000770495 RCV000620591 RCV000766426 RCV001197245 RCV001258093
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter)	SNV Germline	Chr1:154172927	Conflicting classifications of pathogenicity	Condition: not provided Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion TPM3-related myopathy	Criteria Provided Conflicting Classifications	CA235008	rs_727504181	3 SubmittersRCV000154017 RCV002516101 RCV002514966
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)	SNV Germline	Chr14:23430634	Conflicting classifications of pathogenicity	Condition: not provided Hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy Cardiomyopathy Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA016961	rs_730880923	7 SubmittersRCV000158882 RCV000584771 RCV000536809 RCV001187174 RCV001270160
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)	SNV Germline	Chr19:38505910	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024923	rs_144777676	7 SubmittersRCV000179139 RCV000526318 RCV000680153 RCV000765450 RCV001122357 RCV001122358
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)	SNV Germline	Chr19:38543564	Conflicting classifications of pathogenicity	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA023939	rs_794727946	4 SubmittersRCV000180427 RCV002500520 RCV001852247 RCV003996587
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)	SNV Germline	Chr19:38561329	Pathogenic/Likely pathogenic	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA023986	rs_772494345	4 SubmittersRCV000721273 RCV002492793 RCV003591696
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)	SNV Germline	Chr19:38565378	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA024031	rs_794727985	4 SubmittersRCV000180735 RCV000543194 RCV002503701
NM_000540.3(RYR1):c.14304-6C>A	SNV Germline	Chr19:38578138	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Criteria Provided Conflicting Classifications	CA024125	rs_794728693	3 SubmittersRCV000182600 RCV000702407 RCV002485210
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)	SNV Germline	Chr7:143332755	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA347374	rs_774843953	7 SubmittersRCV000193137 RCV000518351 RCV000701519 RCV003313944
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)	SNV Germline	Chr7:143341995	Pathogenic	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347407	rs_762754992	5 SubmittersRCV000194136 RCV000793565 RCV001823126 RCV003326370
NM_001100.4(ACTA1):c.867C>T (p.Ile289=)	SNV Germline	Chr1:229431844	Conflicting classifications of pathogenicity	not specified Familial restrictive cardiomyopathy Actin accumulation myopathy Congenital myopathy with fiber type disproportion ACTA1-related disorder	Criteria Provided Conflicting Classifications	CA208117	rs_140074813	4 SubmittersRCV000194143 RCV001099821 RCV001099822 RCV001099823 RCV003947591
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)	SNV Germline	Chr1:25805153	Conflicting classifications of pathogenicity	not specified Eichsfeld type congenital muscular dystrophy Condition: not provided SEPN1-related disorder Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA207149	rs_201692549	8 SubmittersRCV000193575 RCV000543024 RCV000725931 RCV001097302 RCV002492881
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)	SNV Germline	Chr19:38580504	Conflicting classifications of pathogenicity	not specified RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA061474	rs_536148030	4 SubmittersRCV000192736 RCV000706064 RCV002485290 RCV003996907
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)	SNV Germline	Chr19:38502946	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 not specified Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA071016	rs_148041292	8 SubmittersRCV000209968 RCV000678749 RCV000765449 RCV000800203 RCV001356636
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)	SNV Germline	Chr19:38536758	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Myalgia Exercise-induced myalgia Elevated circulating creatine kinase concentration Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Criteria Provided Conflicting Classifications	CA057247	rs_138593495	5 SubmittersRCV000210015 RCV000521020 RCV000547789 RCV000626705 RCV000764195
NM_001100.4(ACTA1):c.460G>C (p.Val154Leu)	SNV Germline	Chr1:229432426	Likely pathogenic	Congenital muscular dystrophy with rigid spine Congenital myopathy 2b, severe infantile, autosomal recessive	Criteria Provided Single Submitter	CA10575964	rs_768144106	2 SubmittersRCV000230128 RCV003221864
NM_003289.4(TPM2):c.181T>C (p.Ser61Pro)	SNV Germline	Chr9:35689205	Conflicting classifications of pathogenicity	Congenital myopathy 23 Arthrogryposis, distal, type 1A	Criteria Provided Conflicting Classifications	CA10575977	rs_878854363	2 SubmittersRCV000234310 RCV001853365
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)	SNV Germline	Chr19:38458154	Pathogenic	RYR1-related disorder Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16616833	rs_878854365	4 SubmittersRCV000550931 RCV001782728 RCV002500828
NM_000540.3(RYR1):c.10347+1G>A	SNV Germline	Chr19:38523116	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA053108	rs_111436401	9 SubmittersRCV000210710 RCV000521927 RCV000695241 RCV000763426 RCV000995628 RCV002259320
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)	SNV Germline	Chr17:63941922	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Hyperkalemic periodic paralysis Congenital myopathy 22A, classic Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications	CA10584065	rs_879253789	4 SubmittersRCV000235032 RCV001056500 RCV003227471 RCV002512068
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)	SNV Germline	Chr7:143330817	Conflicting classifications of pathogenicity	not specified Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Conflicting Classifications	CA4537173	rs_118066140	12 SubmittersRCV000239241 RCV000404319 RCV000513813 RCV000660618 RCV001086594
NM_000083.3(CLCN1):c.2284+5C>T	SNV Germline	Chr7:143346256	Conflicting classifications of pathogenicity	not specified Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Condition: not provided	Criteria Provided Conflicting Classifications	CA4537608	rs_74824159	10 SubmittersRCV000238941 RCV000407412 RCV000545584 RCV001199130 RCV001705317
NM_000083.3(CLCN1):c.774+1G>A	SNV Germline	Chr7:143323387	Pathogenic	Condition: not provided Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Multiple Submitters No Conflicts	CA4537075	rs_776073429	6 SubmittersRCV000254934 RCV000305146 RCV000543122
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter)	SNV Germline	Chr1:229432575	Pathogenic/Likely pathogenic	Condition: not provided Progressive scapulohumeroperoneal distal myopathy Actin accumulation myopathy Congenital myopathy with fiber type disproportion Actin accumulation myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1442883	rs_371410845	3 SubmittersRCV000261100 RCV001814140 RCV002519066
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)	SNV Germline	Chr1:25809150	Pathogenic/Likely pathogenic	Condition: not provided Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy See cases	Criteria Provided Multiple Submitters No Conflicts	CA696660	rs_199564797	9 SubmittersRCV000358099 RCV000800896 RCV000791286 RCV003985311
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)	SNV Germline	Chr7:143339304	Conflicting classifications of pathogenicity	Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA4537377	rs_146457619	11 SubmittersRCV000342021 RCV000638257 RCV000778823 RCV001252999 RCV001589311
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)	SNV Germline	Chr1:25815660	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy Eichsfeld type congenital muscular dystrophy SELENON-related disorder	Criteria Provided Conflicting Classifications	CA696975	rs_183272965	7 SubmittersRCV000340120 RCV000723478 RCV000765103 RCV001083468 RCV003920033
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=)	SNV Germline	Chr7:143332864	Conflicting classifications of pathogenicity	Condition: not provided Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA4537336	rs_201919331	6 SubmittersRCV000513242 RCV001161643 RCV001084293
NM_152263.4(TPM3):c.*1152C>T	SNV Germline	Chr1:154166785	Conflicting classifications of pathogenicity	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA10607729	rs_535068015	1 SubmittersRCV000265463 RCV000364785
NM_152263.4(TPM3):c.*5594G>T	SNV Germline	Chr1:154162343	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Conflicting Classifications	CA10607842	rs_550606876	1 SubmittersRCV000263606 RCV000316425
NM_152263.4(TPM3):c.495+7G>C	SNV Germline	Chr1:154173077	Conflicting classifications of pathogenicity	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA1125707	rs_749792884	2 SubmittersRCV000342262 RCV000390605 RCV002059333
NM_152263.4(TPM3):c.327T>G (p.Thr109=)	SNV Germline	Chr1:154176165	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA1125742	rs_764255899	2 SubmittersRCV000301387 RCV000394360 RCV000875762
NM_152263.4(TPM3):c.804C>T (p.Tyr268=)	SNV Germline	Chr1:154169355	Conflicting classifications of pathogenicity	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA1125508	rs_762511246	2 SubmittersRCV000285057 RCV000377153 RCV002059332
NM_152263.4(TPM3):c.378-13C>T	SNV Germline	Chr1:154173214	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA1125717	rs_367548433	2 SubmittersRCV000297760 RCV000336326 RCV002059334
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn)	SNV Germline	Chr1:201043321	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA083665	rs_146696748	4 SubmittersRCV000362920 RCV000815102 RCV003454873 RCV003454872 RCV003458395
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile)	SNV Germline	Chr1:201089269	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA084030	rs_138205421	4 SubmittersRCV000296457 RCV000811152 RCV003454913 RCV003458419 RCV003454912
NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=)	SNV Germline	Chr1:201061970	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079486	rs_371818752	4 SubmittersRCV000259670 RCV001053276 RCV003454886 RCV003458404 RCV003454885
NM_001100.4(ACTA1):c.108C>T (p.Ile36=)	SNV Germline	Chr1:229433008	Conflicting classifications of pathogenicity	Actin accumulation myopathy Familial restrictive cardiomyopathy Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA1442937	rs_143948837	2 SubmittersRCV000289010 RCV000325221 RCV000378765
NM_001100.4(ACTA1):c.454+3G>T	SNV Germline	Chr1:229432553	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Familial restrictive cardiomyopathy Actin accumulation myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA1442878	rs_200976037	3 SubmittersRCV000292022 RCV000345366 RCV000407640 RCV003137910
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val)	SNV Germline	Chr7:143332457	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Conflicting Classifications	CA4537279	rs_202119213	5 SubmittersRCV000297363 RCV000481219 RCV001078695
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr)	SNV Germline	Chr7:143346197	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy not specified Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Condition: not provided	Criteria Provided Conflicting Classifications	CA4537594	rs_149316679	5 SubmittersRCV000279484 RCV000518175 RCV000638263 RCV001712348
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr)	SNV Germline	Chr7:143350604	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Conflicting Classifications	CA4537729	rs_201861334	6 SubmittersRCV000368010 RCV000711230 RCV000700433
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=)	SNV Germline	Chr7:143350609	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Conflicting Classifications	CA4537730	rs_775384507	3 SubmittersRCV000402752 RCV000991821 RCV002519502
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)	SNV Germline	Chr7:143320675	Conflicting classifications of pathogenicity	Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Tip-toe gait	Criteria Provided Conflicting Classifications		rs_201509501	7 SubmittersRCV000998933 RCV000792000 RCV001161535 RCV003994119 RCV003319210
NM_000083.3(CLCN1):c.756G>A (p.Val252=)	SNV Germline	Chr7:143323368	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Conflicting Classifications	CA10625396	rs_886062034	2 SubmittersRCV000391740 RCV002524524
NM_000083.3(CLCN1):c.1251+11G>T	SNV Germline	Chr7:143332514	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Conflicting Classifications	CA4537288	rs_780748786	2 SubmittersRCV000356921 RCV003766064
NM_003289.4(TPM2):c.564-9C>T	SNV Germline	Chr9:35684816	Conflicting classifications of pathogenicity	Congenital myopathy 23 not specified Condition: not provided Arthrogryposis, distal, type 1A	Criteria Provided Conflicting Classifications	CA5047244	rs_763429317	4 SubmittersRCV000278603 RCV000607973 RCV001288083 RCV000875847
NM_000083.3(CLCN1):c.156C>T (p.Pro52=)	SNV Germline	Chr7:143316368	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Conflicting Classifications	CA10628372	rs_886062032	2 SubmittersRCV000266956 RCV003766063
NM_000083.3(CLCN1):c.314G>A (p.Arg105His)	SNV Germline	Chr7:143320676	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4536913	rs_756353660	5 SubmittersRCV000263405 RCV000536073 RCV001571296 RCV004022040
NM_000083.3(CLCN1):c.*29C>A	SNV Germline	Chr7:143351994	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA4537831	rs_202172391	2 SubmittersRCV000366724 RCV003144241
NM_003289.4(TPM2):c.-10C>A	SNV Germline	Chr9:35689827	Conflicting classifications of pathogenicity	Arthrogryposis, distal, type 1A Congenital myopathy 23 not specified TPM2-related disorder	Criteria Provided Conflicting Classifications	CA5047475	rs_372751531	3 SubmittersRCV000336042 RCV000394289 RCV000503446 RCV004544715
NM_003289.4(TPM2):c.*25A>C	SNV Germline	Chr9:35683134	Conflicting classifications of pathogenicity	Arthrogryposis, distal, type 1A Congenital myopathy 23	Criteria Provided Conflicting Classifications	CA5047140	rs_781513152	1 SubmittersRCV000304035 RCV000399833
NM_000540.3(RYR1):c.13998+3G>A	SNV Germline	Chr19:38572273	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA060696	rs_765404523	4 SubmittersRCV000279016 RCV000282567 RCV000336443 RCV000374610 RCV001323430 RCV002487452
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)	SNV Unknown	Chr17:63964587	Conflicting classifications of pathogenicity	Muscle weakness Myotonia Batten-Turner congenital myopathy Limb pain Muscle weakness EMG: myotonic discharges Pain Distal sensory impairment Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA16043537	rs_121908552	1 SubmittersRCV000414792 RCV000415234 RCV000626662 RCV001197414
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)	SNV Germline	Chr19:38473726	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion not specified	Criteria Provided Conflicting Classifications	CA065572	rs_370966353	11 SubmittersRCV000415245 RCV000487533 RCV000690328 RCV001128279 RCV001128278 RCV001128280 RCV001198358 RCV003993948
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)	SNV Germline	Chr19:38499718	Conflicting classifications of pathogenicity	Proximal amyotrophy Delayed gross motor development Short stature Congenital contracture Congenital myopathy with fiber type disproportion RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA16043555	rs_1057518940	3 SubmittersRCV000414976 RCV001198534 RCV001233334 RCV003133254
NM_152263.4(TPM3):c.831C>T (p.His277=)	SNV Germline	Chr1:154169328	Conflicting classifications of pathogenicity	Condition: not provided Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA1125504	rs_781032589	2 SubmittersRCV000415940 RCV001418356
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=)	SNV Germline	Chr1:201047211	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA083451	rs_765581827	4 SubmittersRCV000422829 RCV001397065 RCV003456073 RCV003458436 RCV003456074 RCV003456072
NM_001378030.1(CCDC78):c.267+3G>A	SNV Germline	Chr16:725791	Conflicting classifications of pathogenicity	not specified Congenital myopathy with internal nuclei and atypical cores	Criteria Provided Conflicting Classifications	CA7789689	rs_749827376	2 SubmittersRCV000433929 RCV001352422
NM_000540.3(RYR1):c.7835+1G>A	SNV Germline	Chr19:38502728	Likely pathogenic	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Multiple Submitters No Conflicts	CA16607795	rs_1057524858	3 SubmittersRCV000442837 RCV001865407 RCV002488988
NM_000540.3(RYR1):c.11590+1G>T	SNV Germline	Chr19:38536071	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Centronuclear myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA16608213	rs_113928116	5 SubmittersRCV000438320 RCV000803108 RCV002502495 RCV004017611 RCV003996031
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile)	SNV Germline	Chr14:23424817	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16609633	rs_1060505018	5 SubmittersRCV000477668 RCV001197233 RCV002466513 RCV004023097
NM_001843.4(CNTN1):c.278T>C (p.Met93Thr)	SNV Germline	Chr12:40922306	Conflicting classifications of pathogenicity	Condition: not provided Compton-North congenital myopathy	Criteria Provided Conflicting Classifications	CA6516571	rs_142755965	2 SubmittersRCV000481172 RCV001044442
NM_001843.4(CNTN1):c.2644G>A (p.Gly882Arg)	SNV Germline	Chr12:41025270	Conflicting classifications of pathogenicity	Condition: not provided Compton-North congenital myopathy	Criteria Provided Conflicting Classifications	CA6517196	rs_138121813	2 SubmittersRCV000487172 RCV001205215
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)	SNV Germline	Chr12:57244222	Pathogenic/Likely pathogenic	Condition: not provided Bailey-Bloch congenital myopathy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA6646959	rs_371720347	5 SubmittersRCV000487670 RCV000677630 RCV001267514
NM_001378030.1(CCDC78):c.1241C>A (p.Ala414Asp)	SNV Germline	Chr16:722982	Conflicting classifications of pathogenicity	Condition: not provided Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789106	rs_369081589	3 SubmittersRCV000487557 RCV001851289 RCV002525992
NM_000540.3(RYR1):c.4160+1G>A	SNV Germline	Chr19:38473772	Likely pathogenic	Hypotonia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA405643333	rs_113460156	3 SubmittersRCV000490681 RCV002489200 RCV003757181
NM_001843.4(CNTN1):c.1749C>T (p.Cys583=)	SNV Germline	Chr12:40959179	Conflicting classifications of pathogenicity	not specified Compton-North congenital myopathy	Criteria Provided Conflicting Classifications	CA6516926	rs_768838928	2 SubmittersRCV000503918 RCV000871125
NM_001378030.1(CCDC78):c.730G>A (p.Val244Ile)	SNV Germline	Chr16:724716	Conflicting classifications of pathogenicity	not specified Congenital myopathy with internal nuclei and atypical cores	Criteria Provided Conflicting Classifications	CA7789446	rs_752077571	2 SubmittersRCV000504010 RCV000540447
NM_152263.4(TPM3):c.43G>C (p.Asp15His)	SNV Germline	Chr1:154191976	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Condition: not provided Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA342587512	rs_1553251644	3 SubmittersRCV000503601 RCV000727596 RCV000806717
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)	SNV Germline	Chr19:38473488	Conflicting classifications of pathogenicity	Multiminicore myopathy Malignant hyperthermia, susceptibility to, 1 Centronuclear myopathy Congenital myopathy with fiber type disproportion RYR1-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA065302	rs_146407179	6 SubmittersRCV000509349 RCV001223356 RCV001703183 RCV004003564
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser)	SNV Germline	Chr7:143346201	Conflicting classifications of pathogenicity	Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy	Criteria Provided Conflicting Classifications	CA4537596	rs_144612641	5 SubmittersRCV000516763 RCV000552273 RCV001165266
NM_001378030.1(CCDC78):c.973G>C (p.Ala325Pro)	SNV Germline	Chr16:724186	Conflicting classifications of pathogenicity	not specified Congenital myopathy with internal nuclei and atypical cores	Criteria Provided Conflicting Classifications	CA7789312	rs_780197880	2 SubmittersRCV000516842 RCV000650516
NM_152263.4(TPM3):c.455C>T (p.Ala152Val)	SNV Germline	Chr1:154173124	Pathogenic/Likely pathogenic	Condition: not provided Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA342584351	rs_1553249076	2 SubmittersRCV000522047 RCV001857960
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)	SNV Germline	Chr7:143351862	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Condition: not provided Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form	Criteria Provided Conflicting Classifications	CA4537805	rs_150796358	7 SubmittersRCV001161762 RCV000711231 RCV000798907 RCV003883154
NM_000540.3(RYR1):c.9472+1G>A	SNV Germline	Chr19:38512484	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA073621	rs_776697656	6 SubmittersRCV000522844 RCV001266974 RCV001858000 RCV002506276 RCV004003622
NM_000540.3(RYR1):c.14129+1G>A	SNV Germline	Chr19:38573308	Likely pathogenic	Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA060836	rs_142929172	4 SubmittersRCV000519097 RCV001851492 RCV002497013
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys)	SNV Germline	Chr1:154170417	Pathogenic	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Single Submitter	CA342582852	rs_1553248515	1 SubmittersRCV000524673
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)	SNV Germline	Chr1:229431508	Conflicting classifications of pathogenicity	Actin accumulation myopathy Familial restrictive cardiomyopathy Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA1442703	rs_142311664	2 SubmittersRCV000546819 RCV001096304 RCV001096305
NM_003289.4(TPM2):c.374+9G>C	SNV Germline	Chr9:35685638	Conflicting classifications of pathogenicity	Arthrogryposis, distal, type 1A Congenital myopathy 23 TPM2-related disorder	Criteria Provided Conflicting Classifications	CA5047388	rs_200730708	3 SubmittersRCV000556694 RCV001168543 RCV004541649
NM_001843.4(CNTN1):c.1683+1G>A	SNV Germline	Chr12:40944171	Likely pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter	CA384425188	rs_1555185778	1 SubmittersRCV000539454
NM_001843.4(CNTN1):c.2795C>A (p.Ser932Ter)	SNV Germline	Chr12:41027941	Pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter	CA384587984	rs_1555201269	1 SubmittersRCV000526899
NM_001378030.1(CCDC78):c.1275G>A (p.Gln425=)	SNV Germline	Chr16:722948	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores CCDC78-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789100	rs_760280521	3 SubmittersRCV000546211 RCV003945300 RCV004024230
NM_001378030.1(CCDC78):c.368G>A (p.Arg123Gln)	SNV Germline	Chr16:725480	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789636	rs_201924732	2 SubmittersRCV000544640 RCV004024231
NM_001378030.1(CCDC78):c.365C>T (p.Pro122Leu)	SNV Germline	Chr16:725483	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Condition: not provided	Criteria Provided Conflicting Classifications	CA7789638	rs_745392382	2 SubmittersRCV000534408 RCV001755887
NM_001378030.1(CCDC78):c.468T>G (p.Asn156Lys)	SNV Germline	Chr16:725261	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Condition: not provided	Criteria Provided Conflicting Classifications	CA7789585	rs_370998388	2 SubmittersRCV000537626 RCV003156257
NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln)	SNV Germline	Chr17:63947061	Pathogenic	Hyperkalemic periodic paralysis Congenital myopathy 22A, classic	Criteria Provided Single Submitter	CA8709288	rs_780703403	2 SubmittersRCV000557400 RCV003227493
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)	SNV Germline	Chr19:38483429	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided King Denborough syndrome Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA066462	rs_776194441	5 SubmittersRCV000541033 RCV001546453 RCV002476208 RCV004024433
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)	SNV Germline	Chr19:38585967	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405692312	rs_1432807966	6 SubmittersRCV000541517 RCV000595499 RCV002250657 RCV002497202 RCV003999490
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)	SNV Germline	Chr19:38566950	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA059891	rs_149455643	5 SubmittersRCV000551114 RCV000764199 RCV000623122 RCV001797108
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)	SNV Germline	Chr19:38573248	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA060795	rs_113058779	5 SubmittersRCV001078943 RCV000827374 RCV002497201 RCV003999489
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)	SNV Germline	Chr19:38485942	Conflicting classifications of pathogenicity	RYR1-related disorder King Denborough syndrome Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA066855	rs_202225176	3 SubmittersRCV000526099 RCV002483516 RCV003133373
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr)	SNV Germline	Chr19:38496276	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA308104063	rs_745432757	2 SubmittersRCV000558724 RCV002506378
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)	SNV Germline	Chr19:38444167	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA066047	rs_151325948	8 SubmittersRCV000623845 RCV000721535 RCV000818782 RCV003514380 RCV002497264
NM_152263.4(TPM3):c.643-3C>T	SNV Germline	Chr1:154170714	Conflicting classifications of pathogenicity	not specified Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Condition: not provided	Criteria Provided Conflicting Classifications	CA1125562	rs_529845435	3 SubmittersRCV000606959 RCV001860277 RCV003139912
NM_000069.3(CACNA1S):c.4377C>T (p.Gly1459=)	SNV Germline	Chr1:201048646	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA083316	rs_138189035	4 SubmittersRCV000605825 RCV000983807 RCV003451442 RCV003456108 RCV003456107 RCV003458478
NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=)	SNV Germline	Chr1:201083265	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA422691707	rs_1241905770	4 SubmittersRCV000614872 RCV002529688 RCV003451420 RCV003451421 RCV003458473 RCV003451422
NM_000540.3(RYR1):c.8446A>G (p.Met2816Val)	SNV Germline	Chr19:38505851	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA072049	rs_775492883	3 SubmittersRCV000626286 RCV003133414 RCV002529788
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)	SNV Germline	Chr19:38452838	Conflicting classifications of pathogenicity	Myalgia Exercise-induced myalgia Elevated circulating creatine kinase concentration Congenital myopathy with fiber type disproportion RYR1-related disorder Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA059313	rs_757157750	6 SubmittersRCV000626706 RCV001198660 RCV001297707 RCV001532375 RCV001729664 RCV004002758
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)	SNV Germline	Chr19:38517520	Pathogenic/Likely pathogenic	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA074223	rs_752199191	8 SubmittersRCV000627253 RCV001809708 RCV001855333 RCV002499018
NM_152263.4(TPM3):c.298C>G (p.Leu100Val)	SNV Germline	Chr1:154176194	Likely pathogenic	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter	CA342585012	rs_121964853	1 SubmittersRCV000637290
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)	SNV Germline	Chr1:201044407	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 CACNA1S-related disorder Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA083555	rs_183195890	5 SubmittersRCV000651269 RCV003451581 RCV003451582 RCV002493045 RCV003953183 RCV004025825 RCV003451580 RCV003458497
NM_001843.4(CNTN1):c.2923G>T (p.Glu975Ter)	SNV Germline	Chr12:41029162	Pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter	CA384588280	rs_1555201480	1 SubmittersRCV000645985
NM_001378030.1(CCDC78):c.536G>A (p.Arg179Gln)	SNV Germline	Chr16:725102	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7789543	rs_560987339	2 SubmittersRCV000650511 RCV002531962
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser)	SNV Germline	Chr19:38499954	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA069413	rs_193922808	6 SubmittersRCV000655593 RCV001125555 RCV001125554 RCV002275123 RCV002507140
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)	SNV Germline	Chr19:38517532	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided not specified Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA074235	rs_201276068	5 SubmittersRCV000655563 RCV000721760 RCV002307581 RCV002499131
NM_000540.3(RYR1):c.7836-1G>A	SNV Germline	Chr19:38502879	Likely pathogenic	Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1568507354	3 SubmittersRCV000678325 RCV002493120 RCV003591771
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)	SNV Germline	Chr19:38442391	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_1456276440	5 SubmittersRCV000680086 RCV001784304 RCV001861877 RCV002507180 RCV004004220
NM_000257.4(MYH7):c.5560-2A>C	SNV Germline	Chr14:23414104	Likely pathogenic	MYH7-related skeletal myopathy Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter		rs_1566521710	1 SubmittersRCV000681617 RCV001199131
NM_000069.3(CACNA1S):c.1827+6C>T	SNV Germline	Chr1:201076914	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 CACNA1S-related disorder	Criteria Provided Conflicting Classifications		rs_202244301	5 SubmittersRCV000689838 RCV002485628 RCV003446350 RCV003446351 RCV003446349 RCV003446348 RCV003907948
NM_001256545.2(MEGF10):c.319C>T (p.Pro107Ser)	SNV Germline	Chr5:127340630	Conflicting classifications of pathogenicity	MEGF10-related myopathy Congenital myopathy 10b, mild variant	Criteria Provided Conflicting Classifications		rs_200163743	2 SubmittersRCV000699779 RCV003989586
NM_145064.3(STAC3):c.739C>T (p.Gln247Ter)	SNV Germline	Chr12:57244604	Pathogenic	Bailey-Bloch congenital myopathy	Criteria Provided Single Submitter		rs_1202215410	1 SubmittersRCV000700459
NM_001378030.1(CCDC78):c.23G>A (p.Gly8Asp)	SNV Germline	Chr16:726345	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Condition: not provided	Criteria Provided Conflicting Classifications		rs_181469519	3 SubmittersRCV000698790 RCV001288562
NM_001378030.1(CCDC78):c.1281C>T (p.Tyr427=)	SNV Germline	Chr16:722942	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Condition: not provided	Criteria Provided Conflicting Classifications		rs_142180051	2 SubmittersRCV000694693 RCV004569324
NM_000540.3(RYR1):c.14869-5C>G	SNV Germline	Chr19:38586086	Conflicting classifications of pathogenicity	RYR1-related disorder King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications		rs_1199304403	2 SubmittersRCV000695461 RCV002499246
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)	SNV Germline	Chr19:38460545	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_146754847	6 SubmittersRCV000693319 RCV000721454 RCV002477569 RCV003999596
NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)	SNV Germline	Chr19:38477860	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Condition: not provided Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_747718728	6 SubmittersRCV000693287 RCV002477568 RCV003130003 RCV002531464 RCV003999595
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp)	SNV Germline	Chr1:25811710	Conflicting classifications of pathogenicity	Condition: not provided Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy See cases	Criteria Provided Conflicting Classifications		rs_745886248	7 SubmittersRCV000713178 RCV000791287 RCV001861985 RCV003985417
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)	SNV Germline	Chr7:143320774	Conflicting classifications of pathogenicity	Condition: not provided Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy CLCN1-related disorder	Criteria Provided Conflicting Classifications		rs_762344462	5 SubmittersRCV000711232 RCV001405014 RCV001163064 RCV004544955
NM_000540.3(RYR1):c.2287G>A (p.Val763Met)	SNV Germline	Chr19:38459265	Conflicting classifications of pathogenicity	Condition: not provided King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion RYR1-related disorder	Criteria Provided Conflicting Classifications		rs_369947687	4 SubmittersRCV000721445 RCV002493286 RCV002533063
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)	SNV Germline	Chr19:38485969	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications		rs_1568484835	4 SubmittersRCV000721586 RCV001036189 RCV002493289
NM_000540.3(RYR1):c.9001-15C>A	SNV Germline	Chr19:38510645	Conflicting classifications of pathogenicity	Condition: not provided King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_372702492	4 SubmittersRCV000721725 RCV002485829 RCV003768164 RCV003999866
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)	SNV Germline	Chr19:38517565	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Criteria Provided Conflicting Classifications		rs_544339193	4 SubmittersRCV000721762 RCV001312367 RCV002485830
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)	SNV Germline	Chr19:38565514	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_748844266	6 SubmittersRCV000721305 RCV001362581 RCV002507264 RCV004026924
NM_000540.3(RYR1):c.14173-2A>G	SNV Germline	Chr19:38577916	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_1189024951	6 SubmittersRCV000721355 RCV000814221 RCV002499325 RCV003999821
NM_003289.4(TPM2):c.269G>A (p.Arg90His)	SNV Germline	Chr9:35685752	Likely pathogenic	Congenital myopathy 23	Criteria Provided Single Submitter		rs_1563929454	1 SubmittersRCV000754748
NM_079420.3(MYL1):c.479-2A>G	SNV Germline	Chr2:210293802	Pathogenic	Congenital myopathy with reduced type 2 muscle fibers	No Assertion Criteria Provided		rs_1559659233	1 SubmittersRCV000770785
NM_079420.3(MYL1):c.488T>G (p.Met163Arg)	SNV Germline	Chr2:210293791	Likely pathogenic	Congenital myopathy with reduced type 2 muscle fibers	Criteria Provided Single Submitter		rs_1259220084	2 SubmittersRCV000770786
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)	SNV Germline	Chr1:201070363	Pathogenic/Likely pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_770073633	4 SubmittersRCV000782246 RCV001869163 RCV003458516 RCV003456143 RCV003456144 RCV002493430 RCV003453616
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)	SNV Germline	Chr1:154176221	Pathogenic	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Single Submitter		rs_1571418855	1 SubmittersRCV000808390
NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp)	SNV Germline	Chr7:143323374	Pathogenic/Likely pathogenic	Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Batten-Turner congenital myopathy	Criteria Provided Multiple Submitters No Conflicts		rs_772027125	2 SubmittersRCV000822037 RCV001836901
NM_000083.3(CLCN1):c.962T>A (p.Val321Glu)	SNV Germline	Chr7:143330880	Pathogenic/Likely pathogenic	Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy	Criteria Provided Multiple Submitters No Conflicts		rs_780150093	2 SubmittersRCV000800361 RCV001836890
NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile)	SNV Germline	Chr7:143342467	Conflicting classifications of pathogenicity	Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Batten-Turner congenital myopathy	Criteria Provided Conflicting Classifications		rs_749762818	2 SubmittersRCV000794383 RCV001163173
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)	SNV Germline	Chr19:38466204	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_1440262870	4 SubmittersRCV000811818 RCV002495127 RCV003141824 RCV004001735
NM_145064.3(STAC3):c.997-1G>T	SNV Germline	Chr12:57243911	Pathogenic	Bailey-Bloch congenital myopathy	No Assertion Criteria Provided		rs_779483367	2 SubmittersRCV000851531
NM_000257.4(MYH7):c.5655+5G>C	SNV Germline	Chr14:23414002	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Congenital myopathy Hypertrophic cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts		rs_1595070689	2 SubmittersRCV000855671 RCV002538879
NM_000540.3(RYR1):c.46-4G>A	SNV Germline	Chr19:38440741	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications		rs_201094741	4 SubmittersRCV004002997 RCV002487901 RCV000867181
NM_001100.4(ACTA1):c.786G>C (p.Thr262=)	SNV Germline	Chr1:229432016	Conflicting classifications of pathogenicity	Actin accumulation myopathy Familial restrictive cardiomyopathy Congenital myopathy with fiber type disproportion Condition: not provided	Criteria Provided Conflicting Classifications		rs_141030526	3 SubmittersRCV000877200 RCV001099825 RCV001099824 RCV001545990
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=)	SNV Germline	Chr1:201065853	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications		rs_759934490	5 SubmittersRCV000887743 RCV002501438 RCV003454930 RCV003454931 RCV003413713 RCV003454932 RCV003458569
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)	SNV Germline	Chr1:229431823	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Familial restrictive cardiomyopathy Actin accumulation myopathy	Criteria Provided Conflicting Classifications		rs_770931836	2 SubmittersRCV001098049 RCV001098050 RCV001098051
NM_000083.3(CLCN1):c.705C>T (p.Phe235=)	SNV Germline	Chr7:143323317	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Condition: not provided	Criteria Provided Conflicting Classifications		rs_760323048	3 SubmittersRCV001165162 RCV001433251 RCV003320775
NM_152263.4(TPM3):c.43G>A (p.Asp15Asn)	SNV Unknown	Chr1:154191976	Likely pathogenic	Congenital myopathy 4B, autosomal recessive	Criteria Provided Single Submitter		rs_1553251644	1 SubmittersRCV000986418
NM_152263.4(TPM3):c.7G>C (p.Glu3Gln)	SNV Unknown	Chr1:154192012	Likely pathogenic	Congenital myopathy 4B, autosomal recessive	Criteria Provided Single Submitter		rs_1571456678	1 SubmittersRCV000986419
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys)	SNV Germline	Chr1:201077907	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications		rs_751671175	4 SubmittersRCV001101909 RCV001248214 RCV003455023 RCV003455024 RCV003458582
NM_001378030.1(CCDC78):c.268-3C>T	SNV Germline	Chr16:725583	Conflicting classifications of pathogenicity	Condition: not provided Congenital myopathy with internal nuclei and atypical cores CCDC78-related disorder	Criteria Provided Conflicting Classifications		rs_371386354	3 SubmittersRCV000995449 RCV001052282 RCV003943302
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter)	SNV Germline	Chr1:229432120	Pathogenic	Congenital myopathy with fiber type disproportion Actin accumulation myopathy	Criteria Provided Multiple Submitters No Conflicts		rs_1558081664	2 SubmittersRCV000995477 RCV001869389
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)	SNV Germline	Chr19:38458169	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_776252106	6 SubmittersRCV001004922 RCV002305557 RCV001862742 RCV002479200 RCV004004475
NM_001036.6(RYR3):c.2000A>G (p.Asp667Gly)	SNV Germline	Chr15:33603200	Conflicting classifications of pathogenicity	Flexion contracture Congenital myopathy 20	No Assertion Criteria Provided		rs_1314283337	2 SubmittersRCV001007853 RCV003160165
NM_000069.3(CACNA1S):c.4419G>A (p.Thr1473=)	SNV Germline	Chr1:201048604	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications		rs_540448406	4 SubmittersRCV001040475 RCV001593206 RCV003455165 RCV003455166 RCV003456179 RCV003458597
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp)	SNV Germline	Chr1:201089374	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications		rs_186538122	3 SubmittersRCV001071065 RCV002489712 RCV003455301 RCV003455303 RCV003455302 RCV003458616
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)	SNV Germline	Chr1:25805219	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts		rs_778603129	4 SubmittersRCV001039378 RCV001732020
NM_001843.4(CNTN1):c.1484G>A (p.Ser495Asn)	SNV Germline	Chr12:40943701	Conflicting classifications of pathogenicity	Compton-North congenital myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201639044	2 SubmittersRCV001042684 RCV003353121
NM_001036.6(RYR3):c.11G>C (p.Gly4Ala)	SNV Germline	Chr15:33311056	Conflicting classifications of pathogenicity	Epileptic encephalopathy not specified Congenital myopathy 20	Criteria Provided Conflicting Classifications		rs_375998723	3 SubmittersRCV001063110 RCV004030481 RCV003492216
NM_001378030.1(CCDC78):c.620G>A (p.Arg207Gln)	SNV Germline	Chr16:724930	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_368147684	2 SubmittersRCV001038657 RCV003363055
NM_001378030.1(CCDC78):c.425A>G (p.His142Arg)	SNV Germline	Chr16:725423	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_147899031	2 SubmittersRCV001041507 RCV004031254
NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys)	SNV Germline	Chr17:63945465	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Congenital myopathy 22A, classic	Criteria Provided Conflicting Classifications		rs_1181083611	3 SubmittersRCV001065707 RCV002512136 RCV003227512
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)	SNV Germline	Chr19:38458108	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_1305971341	5 SubmittersRCV001058792 RCV001784614 RCV002505620 RCV004000105
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)	SNV Germline	Chr19:38505340	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_767805554	5 SubmittersRCV001051646 RCV002505599 RCV003490034 RCV003514460
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)	SNV Germline	Chr19:38580091	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Condition: not provided	Criteria Provided Conflicting Classifications		rs_193922875	3 SubmittersRCV001040954 RCV002481884 RCV003130110
NM_000540.3(RYR1):c.10824+8G>A	SNV Germline	Chr19:38527792	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications		rs_374325589	2 SubmittersRCV001034975 RCV002489536
NM_152263.4(TPM3):c.*5640C>T	SNV Germline	Chr1:154162297	Conflicting classifications of pathogenicity	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications		rs_564296987	1 SubmittersRCV001097896 RCV001097897
NM_152263.4(TPM3):c.*1077A>C	SNV Germline	Chr1:154166860	Conflicting classifications of pathogenicity	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications		rs_557217738	1 SubmittersRCV001096834 RCV001098594
NM_152263.4(TPM3):c.*157C>T	SNV Germline	Chr1:154167780	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Conflicting Classifications		rs_144482403	1 SubmittersRCV001100497 RCV001100498
NM_152263.4(TPM3):c.249G>A (p.Glu83=)	SNV Germline	Chr1:154176243	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications		rs_149765446	2 SubmittersRCV001098780 RCV001098779 RCV002067751
NM_000069.3(CACNA1S):c.2539A>G (p.Ile847Val)	SNV Germline	Chr1:201069148	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_764821044	4 SubmittersRCV001098033 RCV001504451 RCV003458626 RCV003455453 RCV003455454
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn)	SNV Germline	Chr1:201077110	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications		rs_373525085	4 SubmittersRCV001099902 RCV001856354 RCV003449554 RCV003490072 RCV003449553 RCV003458628
NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg)	SNV Germline	Chr1:201091678	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_771569004	4 SubmittersRCV001096584 RCV002555984 RCV003456197 RCV003458625 RCV003456198
NM_001100.4(ACTA1):c.*248G>A	SNV Germline	Chr1:229431251	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Familial restrictive cardiomyopathy	Criteria Provided Conflicting Classifications		rs_551585351	1 SubmittersRCV001101717 RCV001101718 RCV001101716
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=)	SNV Germline	Chr1:229431505	Conflicting classifications of pathogenicity	Familial restrictive cardiomyopathy Congenital myopathy with fiber type disproportion Actin accumulation myopathy	Criteria Provided Conflicting Classifications		rs_1659932688	2 SubmittersRCV001101722 RCV001101723 RCV001096303
NM_001100.4(ACTA1):c.453C>G (p.Thr151=)	SNV Germline	Chr1:229432557	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Actin accumulation myopathy Familial restrictive cardiomyopathy	Criteria Provided Conflicting Classifications		rs_76030344	2 SubmittersRCV001096399 RCV001096397 RCV001096398
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=)	SNV Germline	Chr1:229432575	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Familial restrictive cardiomyopathy Actin accumulation myopathy	Criteria Provided Conflicting Classifications		rs_371410845	2 SubmittersRCV001098139 RCV001098140 RCV001098141
NM_000083.3(CLCN1):c.1443C>T (p.Cys481=)	SNV Germline	Chr7:143339294	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Conflicting Classifications		rs_781587827	2 SubmittersRCV001161644 RCV003769774
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His)	SNV Germline	Chr7:143342407	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form not specified	Criteria Provided Conflicting Classifications		rs_763850295	3 SubmittersRCV001163171 RCV001358944 RCV003323800
NM_000083.3(CLCN1):c.2017G>C (p.Ala673Pro)	SNV Germline	Chr7:143345607	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Conflicting Classifications		rs_200385034	2 SubmittersRCV001163174 RCV003769787
NM_000083.3(CLCN1):c.697-9C>A	SNV Germline	Chr7:143323300	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Conflicting Classifications		rs_201207110	2 SubmittersRCV001165161 RCV003769798
NM_000083.3(CLCN1):c.1251+14G>A	SNV Germline	Chr7:143332517	Conflicting classifications of pathogenicity	Batten-Turner congenital myopathy Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form	Criteria Provided Conflicting Classifications		rs_1027351084	2 SubmittersRCV001158442 RCV003769757
NM_003289.4(TPM2):c.558C>T (p.Ala186=)	SNV Germline	Chr9:35685274	Conflicting classifications of pathogenicity	Congenital myopathy 23 Arthrogryposis, distal, type 1A	Criteria Provided Conflicting Classifications		rs_746177794	2 SubmittersRCV001168541 RCV001168542
NM_001100.4(ACTA1):c.593G>A (p.Arg198His)	SNV Germline	Chr1:229432293	Pathogenic	Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Single Submitter			1 SubmittersRCV003228209
NM_000257.4(MYH7):c.2192C>G (p.Pro731Arg)	SNV Unknown	Chr14:23425789	Likely pathogenic	Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter		rs_1247313340	1 SubmittersRCV001198111
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser)	SNV Germline	Chr14:23426834	Likely pathogenic	Congenital myopathy with fiber type disproportion Hypertrophic cardiomyopathy Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_397516127	4 SubmittersRCV001196247 RCV001349517 RCV002418658 RCV003106156
NM_001378030.1(CCDC78):c.1178G>A (p.Arg393Gln)	SNV Germline	Chr16:723117	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_376513788	2 SubmittersRCV001224264 RCV004032500
NM_000540.3(RYR1):c.7029C>T (p.Gly2343=)	SNV Germline	Chr19:38499636	Conflicting classifications of pathogenicity	RYR1-related disorder King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications		rs_138617219	2 SubmittersRCV001217935 RCV002504268
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)	SNV Germline	Chr19:38502902	Pathogenic	Condition: not provided RYR1-related disorder King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Criteria Provided Multiple Submitters No Conflicts		rs_1365856881	4 SubmittersRCV001780144 RCV001219907 RCV002491686 RCV003156321
NM_001378030.1(CCDC78):c.196G>A (p.Val66Ile)	SNV Germline	Chr16:725865	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_145112523	3 SubmittersRCV001208077 RCV001354253 RCV002561668
NM_001843.4(CNTN1):c.1099A>G (p.Asn367Asp)	SNV Germline	Chr12:40936894	Conflicting classifications of pathogenicity	Compton-North congenital myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201534221	2 SubmittersRCV001228987 RCV002563155
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)	SNV Germline	Chr1:201069596	Conflicting classifications of pathogenicity	skeletal contractures Muscular atrophy Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_1157720606	6 SubmittersRCV001254711 RCV003145495 RCV003152617 RCV003456486 RCV003449815 RCV003449816
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)	SNV Germline	Chr9:35683232	Pathogenic/Likely pathogenic	Arthrogryposis, distal, type 1A Congenital myopathy 23 Condition: not provided TPM2-related myopathy	Criteria Provided Multiple Submitters No Conflicts		rs_1824676022	5 SubmittersRCV001254895 RCV001573796 RCV003389253
NM_001378030.1(CCDC78):c.1134-19C>T	SNV Germline	Chr16:723180	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores	Criteria Provided Conflicting Classifications		rs_1320283995	2 SubmittersRCV001335566
NM_000540.3(RYR1):c.1593C>T (p.Gly531=)	SNV Germline	Chr19:38455467	Conflicting classifications of pathogenicity	Central core myopathy RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_927675372	4 SubmittersRCV001334520 RCV001865812 RCV002476551 RCV004005143
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)	SNV Germline	Chr19:38458238	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications		rs_565825739	6 SubmittersRCV001334521 RCV001702096 RCV002499657 RCV004005144 RCV003591856
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu)	SNV Germline	Chr1:201066897	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_553593355	3 SubmittersRCV001343372 RCV002476584 RCV003449965 RCV003449966 RCV003458673 RCV003449967
NM_000540.3(RYR1):c.2682G>T (p.Pro894=)	SNV Germline	Chr19:38463527	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_919322708	3 SubmittersRCV001370546 RCV002488164 RCV003235565
NM_000540.3(RYR1):c.10347C>T (p.His3449=)	SNV Germline	Chr19:38523115	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_373702420	3 SubmittersRCV001370548 RCV002504621 RCV004006823
NM_000334.4(SCN4A):c.608T>A (p.Met203Lys)	SNV Germline	Chr17:63971725	Pathogenic	Hyperkalemic periodic paralysis Congenital myopathy 22B, severe fetal	Criteria Provided Single Submitter		rs_933258893	2 SubmittersRCV001387955 RCV003227973
NM_000069.3(CACNA1S):c.4242-10C>G	SNV Germline	Chr1:201049109	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_574154912	4 SubmittersRCV001411221 RCV002493969 RCV003446746 RCV003446748 RCV003446745 RCV003446747
NM_000432.4(MYL2):c.499T>C (p.Ter167Gln)	SNV Germline	Chr12:110911079	Likely pathogenic	Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter		rs_2071647433	1 SubmittersRCV001507318
NM_000083.3(CLCN1):c.1393G>T (p.Val465Phe)	SNV Germline	Chr7:143332865	Likely pathogenic	Batten-Turner congenital myopathy	Criteria Provided Single Submitter		rs_139158852	1 SubmittersRCV001837017
NM_213674.1(TPM2):c.773-2A>C	SNV Unknown	Chr9:35682165	Likely pathogenic	Congenital myopathy 23	Criteria Provided Single Submitter		rs_2131843731	1 SubmittersRCV001730076
NM_145064.3(STAC3):c.432+1G>A	SNV Germline	Chr12:57248705	Likely pathogenic	Bailey-Bloch congenital myopathy	Criteria Provided Single Submitter		rs_780801708	1 SubmittersRCV001824231
NM_000540.3(RYR1):c.14130-2A>G	SNV Germline	Chr19:38575917	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_1457662393	4 SubmittersRCV001941795 RCV002497871 RCV003325593 RCV004010985
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser)	SNV Germline	Chr1:201040302	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications		rs_200434921	3 SubmittersRCV002038246 RCV002486665 RCV003453957 RCV003456271 RCV003456272 RCV003458818
NM_001378030.1(CCDC78):c.692G>T (p.Arg231Leu)	SNV Germline	Chr16:724754	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Condition: not provided	Criteria Provided Conflicting Classifications		rs_147504073	2 SubmittersRCV001893529 RCV003326593
NM_001100.4(ACTA1):c.124C>T (p.His42Tyr)	SNV Germline	Chr1:229432992	Pathogenic	Actin accumulation myopathy Congenital myopathy 2c, severe infantile, autosomal dominant	Criteria Provided Single Submitter		rs_2102736554	2 SubmittersRCV002000054 RCV003228037
NM_152263.4(TPM3):c.44A>T (p.Asp15Val)	SNV Germline	Chr1:154191975	Likely pathogenic	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Single Submitter		rs_2148295444	1 SubmittersRCV002014040
NM_000069.3(CACNA1S):c.3053+19C>G	SNV Germline	Chr1:201061925	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications		rs_372276351	3 SubmittersRCV001909627 RCV002503570 RCV003446948 RCV003446949 RCV003446950 RCV003446947
NM_001378030.1(CCDC78):c.893G>C (p.Ser298Thr)	SNV Germline	Chr16:724382	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_770130604	2 SubmittersRCV001896225 RCV004041456
NM_152263.4(TPM3):c.271C>G (p.Arg91Gly)	SNV Germline	Chr1:154176221	Likely pathogenic	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Single Submitter		rs_1571418855	1 SubmittersRCV002007718
NM_152263.4(TPM3):c.118-12G>A	SNV Germline	Chr1:154191323	Pathogenic/Likely pathogenic	Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002285529
NM_001378030.1(CCDC78):c.28A>G (p.Arg10Gly)	SNV Germline	Chr16:726340	Conflicting classifications of pathogenicity	Congenital myopathy with internal nuclei and atypical cores Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_769964986	2 SubmittersRCV002108665 RCV004046471
NM_014241.4(HACD1):c.458G>A (p.Trp153Ter)	SNV Germline	Chr10:17603585	Pathogenic	Congenital myopathy 11	No Assertion Criteria Provided			1 SubmittersRCV002271331
NM_014241.4(HACD1):c.785-1G>T	SNV Germline	Chr10:17590447	Pathogenic	Congenital myopathy 11	No Assertion Criteria Provided			1 SubmittersRCV002271332
NM_003279.3(TNNC2):c.100G>T (p.Asp34Tyr)	SNV Germline	Chr20:45824594	Pathogenic	Congenital myopathy 15	No Assertion Criteria Provided			1 SubmittersRCV002472359
NM_003279.3(TNNC2):c.237G>C (p.Met79Ile)	SNV Germline	Chr20:45824369	Pathogenic	Congenital myopathy 15	No Assertion Criteria Provided			1 SubmittersRCV002472360
NM_152263.4(TPM3):c.272G>A (p.Arg91His)	SNV Germline	Chr1:154176220	Likely pathogenic	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV003058660
NM_152263.4(TPM3):c.642+2T>C	SNV Germline	Chr1:154171411	Conflicting classifications of pathogenicity	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002581536 RCV003138517
NM_145064.3(STAC3):c.670+2T>A	SNV Germline	Chr12:57245143	Likely pathogenic	Bailey-Bloch congenital myopathy	Criteria Provided Single Submitter			1 SubmittersRCV002944314
NM_001843.4(CNTN1):c.268C>T (p.Arg90Ter)	SNV Germline	Chr12:40922296	Pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003051748
NM_000069.3(CACNA1S):c.2224C>T (p.Pro742Ser)	SNV Germline	Chr1:201072758	Pathogenic	Condition: not provided Congenital myopathy 18	Criteria Provided Single Submitter			2 SubmittersRCV003120264 RCV003222483
NM_152263.4(TPM3):c.535C>T (p.Arg179Cys)	SNV Germline	Chr1:154172939	Likely pathogenic	Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter			1 SubmittersRCV003142465
NM_001100.4(ACTA1):c.863A>G (p.Asp288Gly)	SNV Germline	Chr1:229431848	Pathogenic	Congenital myopathy 2c, severe infantile, autosomal dominant	No Assertion Criteria Provided			1 SubmittersRCV003152501
NM_001100.4(ACTA1):c.121C>T (p.Arg41Ter)	SNV Germline	Chr1:229432995	Pathogenic	Congenital myopathy 2b, severe infantile, autosomal recessive	No Assertion Criteria Provided			1 SubmittersRCV003152503
NM_001100.4(ACTA1):c.809-1G>T	SNV Germline	Chr1:229431903	Pathogenic	Congenital myopathy 2b, severe infantile, autosomal recessive	No Assertion Criteria Provided			1 SubmittersRCV003152505
NM_000069.3(CACNA1S):c.4453C>T (p.Gln1485Ter)	SNV Germline	Chr1:201047615	Pathogenic	Congenital myopathy 18	No Assertion Criteria Provided			1 SubmittersRCV003152509
NM_000069.3(CACNA1S):c.2225C>A (p.Pro742Gln)	SNV Germline	Chr1:201072757	Pathogenic	Congenital myopathy 18	No Assertion Criteria Provided			1 SubmittersRCV003152512
NM_001256545.2(MEGF10):c.2981-2A>G	SNV Germline	Chr5:127454564	Pathogenic	Congenital myopathy 10b, mild variant	No Assertion Criteria Provided			1 SubmittersRCV003152534
NM_001256545.2(MEGF10):c.2429G>A (p.Cys810Tyr)	SNV Germline	Chr5:127443064	Pathogenic	Congenital myopathy 10b, mild variant	No Assertion Criteria Provided			1 SubmittersRCV003152537
NM_001256545.2(MEGF10):c.352T>C (p.Cys118Arg)	SNV Germline	Chr5:127369942	Pathogenic	Congenital myopathy 10b, mild variant	No Assertion Criteria Provided			1 SubmittersRCV003152538
NM_001256545.2(MEGF10):c.1426+1G>T	SNV Germline	Chr5:127419241	Pathogenic	Congenital myopathy 10b, mild variant	No Assertion Criteria Provided			1 SubmittersRCV003152539
NM_001256545.2(MEGF10):c.2096G>C (p.Cys699Ser)	SNV Germline	Chr5:127435481	Likely pathogenic	Congenital myopathy 10b, mild variant MEGF10-related myopathy	Criteria Provided Single Submitter			2 SubmittersRCV003152540 RCV003336823
NM_152263.4(TPM3):c.445C>A (p.Leu149Ile)	SNV Germline	Chr1:154173134	Pathogenic	Congenital myopathy 4A, autosomal dominant	No Assertion Criteria Provided			1 SubmittersRCV003152550
NM_007034.5(DNAJB4):c.856A>T (p.Lys286Ter)	SNV Germline	Chr1:78016089	Pathogenic	Congenital myopathy 21 with early respiratory failure	No Assertion Criteria Provided			1 SubmittersRCV003223360
NM_007034.5(DNAJB4):c.785T>C (p.Leu262Ser)	SNV Germline	Chr1:78016018	Pathogenic	Congenital myopathy 21 with early respiratory failure	No Assertion Criteria Provided			1 SubmittersRCV003223361
NM_007034.5(DNAJB4):c.74G>A (p.Arg25Gln)	SNV Germline	Chr1:78005184	Pathogenic	Congenital myopathy 21 with early respiratory failure	No Assertion Criteria Provided			1 SubmittersRCV003223362
NM_007034.5(DNAJB4):c.181A>G (p.Arg61Gly)	SNV Germline	Chr1:78005291	Pathogenic	Congenital myopathy 21 with early respiratory failure	No Assertion Criteria Provided			1 SubmittersRCV003223363
NM_000334.4(SCN4A):c.3626G>T (p.Cys1209Phe)	SNV Germline	Chr17:63945454	Pathogenic	Congenital myopathy 22A, classic	No Assertion Criteria Provided			1 SubmittersRCV003227546
NM_000334.4(SCN4A):c.1144C>A (p.Pro382Thr)	SNV Germline	Chr17:63966200	Pathogenic	Congenital myopathy 22B, severe fetal	No Assertion Criteria Provided			1 SubmittersRCV003227547
NM_000334.4(SCN4A):c.4779C>A (p.Tyr1593Ter)	SNV Germline	Chr17:63941503	Pathogenic	Congenital myopathy 22B, severe fetal	No Assertion Criteria Provided			1 SubmittersRCV003227549
NM_000334.4(SCN4A):c.1123T>C (p.Cys375Arg)	SNV Germline	Chr17:63966221	Pathogenic	Congenital myopathy 22A, classic	No Assertion Criteria Provided			1 SubmittersRCV003227550
NM_000334.4(SCN4A):c.4340T>C (p.Phe1447Ser)	SNV Germline	Chr17:63941942	Likely pathogenic	Congenital myopathy 22B, severe fetal	Criteria Provided Single Submitter			1 SubmittersRCV003315479
NM_000334.4(SCN4A):c.3798G>C (p.Glu1266Asp)	SNV Germline	Chr17:63944787	Likely pathogenic	Congenital myopathy 22B, severe fetal	Criteria Provided Single Submitter			1 SubmittersRCV003315480
NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr)	SNV Unknown	Chr1:229431831	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications			1 SubmittersRCV003333906 RCV003333907
NM_001100.4(ACTA1):c.766C>G (p.Arg256Gly)	SNV Germline	Chr1:229432036	Likely pathogenic	Congenital myopathy Primary dilated cardiomyopathy	Criteria Provided Single Submitter			1 SubmittersRCV003333909 RCV003333908
NM_001100.4(ACTA1):c.925C>T (p.Pro309Ser)	SNV Germline	Chr1:229431786	Likely pathogenic	Congenital myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003333919
NM_001100.4(ACTA1):c.143G>C (p.Gly48Ala)	SNV Germline	Chr1:229432867	Likely pathogenic	Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter			1 SubmittersRCV003333931
NM_001100.4(ACTA1):c.772C>G (p.Arg258Gly)	SNV Unknown	Chr1:229432030	Likely pathogenic	Nemaline myopathy Congenital myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003333942 RCV003333943
NM_006828.4(ASCC3):c.2554C>T (p.Arg852Ter)	SNV Germline	Chr6:100661955	Likely pathogenic	Congenital myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003447798
NM_001843.4(CNTN1):c.94+2T>C	SNV Germline	Chr12:40910107	Likely pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003623600
NM_001843.4(CNTN1):c.704-1G>A	SNV Germline	Chr12:40933460	Likely pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003623750
NM_001843.4(CNTN1):c.1711C>T (p.Arg571Ter)	SNV Germline	Chr12:40959141	Pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003622204
NM_152263.4(TPM3):c.452A>C (p.Glu151Ala)	SNV Germline	Chr1:154173127	Pathogenic	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV003780948
NM_152263.4(TPM3):c.243+1G>A	SNV Germline	Chr1:154191185	Likely pathogenic	Congenital myopathy 4B, autosomal recessive Congenital myopathy with fiber type disproportion	Criteria Provided Single Submitter			1 SubmittersRCV003792009
NM_152263.4(TPM3):c.137C>T (p.Ala46Val)	SNV Germline	Chr1:154191292	Likely pathogenic	Congenital myopathy with fiber type disproportion Congenital myopathy 4B, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV003802400
NM_001843.4(CNTN1):c.739C>T (p.Gln247Ter)	SNV Germline	Chr12:40933496	Pathogenic	Compton-North congenital myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003859142

SNV
Germline

Chr1:25800231

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy
Condition: not provided
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion

Criteria Provided
Multiple Submitters
No Conflicts

CA253168

rs_121908184

5 SubmittersRCV000004748 RCV000482307 RCV002288464 RCV002504747

NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)

SNV
Germline

Chr1:25809753

Pathogenic/Likely pathogenic

Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
Condition: not provided
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
SEPN1-related disorder
SELENON-related myopathy
Eichsfeld type congenital muscular dystrophy
Congenital myopathy 4A, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA223589

rs_121908188

21 SubmittersRCV000004754 RCV000004753 RCV000082020 RCV000681664 RCV000778235 RCV003993737 RCV003224794

NM_152263.4(TPM3):c.26T>G (p.Met9Arg)

SNV
Germline

Chr1:154191993

Pathogenic

Congenital myopathy 4B, autosomal recessive
Condition: not provided
Congenital myopathy 4A, autosomal dominant

No Assertion Criteria Provided

CA232675

rs_80358247

3 SubmittersRCV000013259 RCV000128695 RCV003151723

NM_152263.4(TPM3):c.857A>C (p.Ter286Ser)

SNV
Germline

Chr1:154167938

Likely pathogenic

Congenital myopathy 4B, autosomal recessive
Condition: not provided
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA232703

rs_199474720

4 SubmittersRCV000013260 RCV000128708 RCV000707046

NM_152263.4(TPM3):c.94C>T (p.Gln32Ter)

SNV
Germline

Chr1:154191925

Pathogenic

Congenital myopathy 4B, autosomal recessive
Condition: not provided
Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
Congenital myopathy 4A, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA232705

rs_80358248

5 SubmittersRCV000013262 RCV000128709 RCV003764563 RCV004562204

NM_152263.4(TPM3):c.503G>A (p.Arg168His)

SNV
Germline

Chr1:154172971

Pathogenic

Congenital myopathy 4A, autosomal dominant
Congenital myopathy 4B, autosomal recessive
Condition: not provided
Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA144541

rs_121964852

10 SubmittersRCV000054415 RCV000013263 RCV000128701 RCV000537032 RCV001420249

NM_152263.4(TPM3):c.298C>A (p.Leu100Met)

SNV
Germline

Chr1:154176194

Pathogenic

Congenital myopathy with fiber type disproportion
Condition: not provided
Congenital myopathy 4A, autosomal dominant

No Assertion Criteria Provided

CA232679

rs_121964853

3 SubmittersRCV000013267 RCV000128697 RCV003151724

NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)

SNV
Germline

Chr1:154172972

Pathogenic/Likely pathogenic

Congenital myopathy with fiber type disproportion
Condition: not provided
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
Congenital myopathy 4A, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA232686

rs_121964854

6 SubmittersRCV000013268 RCV000128699 RCV000226212 RCV001382225 RCV003151725

NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)

SNV
Germline

Chr1:154172972

Pathogenic

Congenital myopathy with fiber type disproportion
Congenital myopathy 4A, autosomal dominant
Condition: not provided
Inborn genetic diseases
Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA144544

rs_121964854

10 SubmittersRCV000013269 RCV000054416 RCV000128700 RCV000624745 RCV000637291

NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)

SNV
Germline

Chr9:35685672

Pathogenic

Congenital myopathy 23
Condition: not provided
Arthrogryposis, distal, type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA232643

rs_104894129

6 SubmittersRCV000013278 RCV000128681 RCV000531827

NM_003289.4(TPM2):c.121G>A (p.Glu41Lys)

SNV
Germline

Chr9:35689265

Pathogenic

Congenital myopathy 23
Condition: not provided
Arthrogryposis, distal, type 1A

Criteria Provided
Single Submitter

CA232622

rs_137853306

3 SubmittersRCV000013280 RCV000128672 RCV001206319

NM_003289.4(TPM2):c.606C>G (p.Asn202Lys)

SNV
Germline

Chr9:35684765

Pathogenic

Condition: not provided
Congenital myopathy 23

No Assertion Criteria Provided

CA122421

rs_137853307

2 SubmittersRCV000128687 RCV003231101

NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)

SNV
Germline

Chr19:38457545

Pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
RYR1-related disorder
Inborn genetic diseases
Malignant hyperthermia of anesthesia
enflurane response - Toxicity
succinylcholine response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
desflurane response - Toxicity
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy

Reviewed By Expert Panel

CA024311

rs_118192172

27 SubmittersRCV000013830 RCV000119586 RCV000538121 RCV000624176 RCV000608635 RCV001787389 RCV001787394 RCV001787390 RCV001787391 RCV001787392 RCV001787393 RCV001787388 RCV002496349

NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)

SNV
Germline

Chr19:38500654

Likely pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
Malignant hyperthermia of anesthesia
RYR1-related disorder
sevoflurane response - Toxicity
desflurane response - Toxicity
enflurane response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
succinylcholine response - Toxicity
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy

Reviewed By Expert Panel

CA024784

rs_28933397

11 SubmittersRCV000013838 RCV000119711 RCV000614410 RCV000796565 RCV001787731 RCV001787726 RCV001787727 RCV001787728 RCV001787729 RCV001787730 RCV001787732 RCV002490361

NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)

SNV
Germline

Chr19:38443612

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024392

rs_118192173

15 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV002496350 RCV003447473 RCV003996093

NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)

SNV
Germline

Chr19:38499961

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Lower limb amyotrophy
EMG abnormality
Clubfoot
RYR1-related disorder
Condition: not provided
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease

Criteria Provided
Conflicting Classifications

CA024732

rs_118192174

10 SubmittersRCV000013861 RCV000415169 RCV001851835 RCV000119694 RCV001197410 RCV002504782 RCV003996094 RCV004017243

NM_000208.4(INSR):c.3034G>A (p.Val1012Met)

SNV
Germline

Chr19:7125507

Conflicting classifications of pathogenicity

Type 2 diabetes mellitus
not specified
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Monogenic diabetes
Condition: not provided
Leprechaunism syndrome
Rabson-Mendenhall syndrome
Bailey-Bloch congenital myopathy

Criteria Provided
Conflicting Classifications

CA124262

rs_1799816

12 SubmittersRCV000015822 RCV000175131 RCV000344820 RCV000445519 RCV000515071 RCV001132183 RCV001132184 RCV001258250

NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)

SNV
Germline

Chr7:143321841

Pathogenic

Congenital myotonia, autosomal dominant form
Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
CLCN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA258012

rs_80356700

12 SubmittersRCV000019084 RCV000020113 RCV000291823 RCV000627758 RCV003317041 RCV004532391

NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu)

SNV
Germline

Chr7:143339290

Pathogenic

Congenital myotonia, autosomal dominant form
Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Single Submitter

CA258018

rs_80356694

3 SubmittersRCV000019089 RCV000020101 RCV001237767

NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)

SNV
Germline

Chr7:143342001

Pathogenic/Likely pathogenic

Myotonia levior
Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA127249

rs_80356696

7 SubmittersRCV000019090 RCV000020103 RCV000498537 RCV000685420 RCV001253100

NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)

SNV
Germline

Chr7:143330788

Pathogenic

Congenital myotonia, autosomal dominant form
Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Myotonia
Condition: not provided
Congenital myotonia, autosomal recessive form
CLCN1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA258020

rs_80356690

6 SubmittersRCV000019091 RCV000020117 RCV000690053 RCV000626584 RCV000711241 RCV001196224 RCV004528125

NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)

SNV
Germline

Chr7:143330868

Pathogenic/Likely pathogenic

Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Batten-Turner congenital myopathy
Condition: not provided
6 conditions
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA258024

rs_80356702

11 SubmittersRCV000019094 RCV000019095 RCV000020121 RCV000516960 RCV000626585 RCV000763169

NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)

SNV
Germline

Chr7:143351678

Pathogenic/Likely pathogenic

Congenital myotonia, autosomal dominant form
Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
EMG: myopathic abnormalities
Myopathy
Tip-toe gait
Cerebral palsy
Abnormality of the musculature

Criteria Provided
Multiple Submitters
No Conflicts

CA258028

rs_55960271

26 SubmittersRCV000019099 RCV000020107 RCV000019098 RCV000292791 RCV000627759 RCV000626582 RCV001564017 RCV001794458 RCV001813999

NM_000083.3(CLCN1):c.382A>G (p.Met128Val)

SNV
Germline

Chr7:143320744

Likely pathogenic

Congenital myotonia, autosomal dominant form
Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Single Submitter

CA258030

rs_80356699

3 SubmittersRCV000019100 RCV000020109 RCV001049292

NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)

SNV
Germline

Chr1:201053538

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA004054

rs_28930068

14 SubmittersRCV000019190 RCV000414086 RCV000627793 RCV003450645 RCV003992159

NM_001100.4(ACTA1):c.287T>C (p.Leu96Pro)

SNV
Germline

Chr1:229432723

Pathogenic/Likely pathogenic

Actin accumulation myopathy
Congenital myopathy 2b, severe infantile, autosomal recessive
ACTA1-related myopathies

Criteria Provided
Multiple Submitters
No Conflicts

CA258130

rs_121909519

3 SubmittersRCV000019941 RCV003151730 RCV001731311

NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg)

SNV
Germline

Chr1:229433067

Pathogenic/Likely pathogenic

Condition: not provided
Congenital myopathy 2c, severe infantile, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA128029

rs_121909521

3 SubmittersRCV002510771 RCV003151731

NM_001100.4(ACTA1):c.493G>T (p.Val165Leu)

SNV
Germline

Chr1:229432393

Pathogenic

Actin accumulation myopathy
Congenital myopathy 2c, severe infantile, autosomal dominant

No Assertion Criteria Provided

CA258134

rs_121909522

1 SubmittersRCV000019944 RCV003227607

NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)

SNV
Germline

Chr1:229432020

Pathogenic/Likely pathogenic

Actin accumulation myopathy
ACTA1-related myopathies
Condition: not provided
Congenital myopathy 2b, severe infantile, autosomal recessive
Congenital myopathy with fiber type disproportion
Actin accumulation myopathy
Progressive scapulohumeroperoneal distal myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA258136

rs_121909523

5 SubmittersRCV000019945 RCV001270724 RCV001804741 RCV003151732 RCV002504811

NM_001100.4(ACTA1):c.1075A>C (p.Ile359Leu)

SNV
Germline

Chr1:229431558

Pathogenic

Congenital myopathy 2c, severe infantile, autosomal dominant

No Assertion Criteria Provided

CA258138

rs_121909524

1 SubmittersRCV003151733

NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)

SNV
Germline

Chr1:229431830

Pathogenic

Congenital myopathy with fiber type disproportion
Actin accumulation myopathy
Congenital myopathy 2c, severe infantile, autosomal dominant

No Assertion Criteria Provided

CA341495

rs_121909529

3 SubmittersRCV000019951 RCV001028007 RCV003151734

NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro)

SNV
Germline

Chr1:229432134

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Congenital myopathy 2c, severe infantile, autosomal dominant
Actin accumulation myopathy

Criteria Provided
Conflicting Classifications

CA341497

rs_121909530

4 SubmittersRCV000019952 RCV003151735 RCV001851954

NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser)

SNV
Germline

Chr1:229431633

Likely pathogenic

Congenital myopathy with fiber type disproportion
Actin accumulation myopathy
Congenital myopathy 2c, severe infantile, autosomal dominant

Criteria Provided
Single Submitter

CA341499

rs_121909531

3 SubmittersRCV000019953 RCV002513127 RCV003151736

NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)

SNV
Germline

Chr7:143341938

Pathogenic

Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Congenital myotonia, autosomal recessive form
Batten-Turner congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA341539

rs_80356704

8 SubmittersRCV000638249 RCV000711222 RCV002267607 RCV000020102

NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)

SNV
Germline

Chr7:143330838

Pathogenic

Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided
Congenital myotonia, autosomal dominant form
CLCN1-related disorder
Congenital myotonia, autosomal recessive form

Criteria Provided
Multiple Submitters
No Conflicts

CA341557

rs_80356701

9 SubmittersRCV000020118 RCV000477848 RCV000483128 RCV002243656 RCV004541011 RCV004562217

NM_000083.3(CLCN1):c.929C>T (p.Thr310Met)

SNV
Germline

Chr7:143330847

Pathogenic

Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Batten-Turner congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA341559

rs_80356691

4 SubmittersRCV000516849 RCV002514123 RCV001823101 RCV000020119

NM_001256545.2(MEGF10):c.2320T>C (p.Cys774Arg)

SNV
Germline

Chr5:127440825

Pathogenic/Likely pathogenic

Congenital myopathy 10b, mild variant
MEGF10-related myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA129572

rs_387907072

4 SubmittersRCV000023956 RCV000023955 RCV003156219

NM_001256545.2(MEGF10):c.976T>C (p.Cys326Arg)

SNV
Germline

Chr5:127410447

Pathogenic

Congenital myopathy 10b, mild variant
MEGF10-related myopathy

Criteria Provided
Single Submitter

CA129574

rs_387907073

2 SubmittersRCV000023957 RCV001385515

NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)

SNV
Germline

Chr19:38519399

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Condition: not provided
Central core myopathy
not specified
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA023822

rs_367543058

11 SubmittersRCV000034925 RCV000147397 RCV000233916 RCV000401146 RCV000529599 RCV003996181

NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)

SNV
Unknown

Chr19:38451846

Pathogenic

Congenital myopathy with fiber type disproportion
Condition: not provided
Central core myopathy

No Assertion Criteria Provided

CA023960

rs_118192117

2 SubmittersRCV000034926 RCV000119451 RCV000056214

NM_000540.3(RYR1):c.5333C>A (p.Ser1778Ter)

SNV
Germline

Chr19:38485988

Pathogenic

Congenital myopathy with fiber type disproportion
RYR1-related disorder

Criteria Provided
Single Submitter

CA024506

rs_367543055

2 SubmittersRCV000034928 RCV003591635

NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys)

SNV
Germline

Chr19:38517651

Likely pathogenic

Congenital myopathy with fiber type disproportion
RYR1-related disorder

Criteria Provided
Single Submitter

CA025011

rs_367543057

2 SubmittersRCV000034932 RCV001363318

NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp)

SNV
Germline

Chr1:229432867

Pathogenic

Congenital myopathy with fiber type disproportion
Actin accumulation myopathy

Criteria Provided
Single Submitter

CA344554

rs_367543049

2 SubmittersRCV000034933 RCV000807360

NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)

SNV
Germline

Chr1:229433100

Pathogenic/Likely pathogenic

Congenital myopathy with fiber type disproportion
Progressive scapulohumeroperoneal distal myopathy
Actin accumulation myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA344557

rs_367543048

3 SubmittersRCV000034934 RCV001198948 RCV000693406

NM_001100.4(ACTA1):c.984G>C (p.Lys328Asn)

SNV
Germline

Chr1:229431727

Pathogenic

Congenital myopathy 2c, severe infantile, autosomal dominant

No Assertion Criteria Provided

CA263209

rs_398122936

1 SubmittersRCV003151741

NM_000540.3(RYR1):c.10348-6C>G

SNV
Germline

Chr19:38523211

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Inborn genetic diseases
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA023836

rs_193922837

14 SubmittersRCV000119410 RCV000535801 RCV000624604 RCV001249074 RCV001775081 RCV003997313 RCV002477304

NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)

SNV
Germline

Chr19:38500898

Likely pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder
Inborn genetic diseases
Congenital myopathy with fiber type disproportion
Abnormality of the musculature
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024819

rs_118192178

12 SubmittersRCV000056228 RCV000119718 RCV000552166 RCV000624571 RCV001198416 RCV001814037 RCV001731347 RCV002281900

NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)

SNV
Germline

Chr19:38584973

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
RYR1-related disorder
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024220

rs_118192150

8 SubmittersRCV000056236 RCV000119545 RCV001046476 RCV002496742 RCV003996489

NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)

SNV
Germline

Chr12:57244322

Pathogenic/Likely pathogenic

Bailey-Bloch congenital myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA145329

rs_140291094

16 SubmittersRCV000074400 RCV001093315

NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)

SNV
Germline

Chr19:38494436

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
King Denborough syndrome
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024569

rs_398123473

5 SubmittersRCV000079157 RCV002490686 RCV002515759 RCV003997199

NM_020451.3(SELENON):c.103G>C (p.Gly35Arg)

SNV
Germline

Chr1:25800333

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy
Condition: not provided
SEPN1-related disorder
Congenital myopathy with fiber type disproportion
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA223578

rs_398124359

10 SubmittersRCV000558595 RCV000723675 RCV001097299 RCV001329140 RCV003162515 RCV003398680

NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)

SNV
Germline

Chr1:25815599

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy
Condition: not provided
SEPN1-related disorder
Congenital myopathy with fiber type disproportion
not specified

Criteria Provided
Conflicting Classifications

CA223586

rs_200128474

10 SubmittersRCV000542565 RCV000723596 RCV001097379 RCV001329142 RCV003398681

NM_001100.4(ACTA1):c.132C>T (p.Gly44=)

SNV
Germline

Chr1:229432878

Conflicting classifications of pathogenicity

not specified
Actin accumulation myopathy
Congenital myopathy with fiber type disproportion
Familial restrictive cardiomyopathy

Criteria Provided
Conflicting Classifications

CA151565

rs_146956806

4 SubmittersRCV000116219 RCV000639671 RCV001098142 RCV001098143

NM_001378030.1(CCDC78):c.966C>A (p.Asn322Lys)

SNV
Germline

Chr16:724193

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myopathy with internal nuclei and atypical cores

Criteria Provided
Conflicting Classifications

CA230972

rs_148595483

3 SubmittersRCV000116606 RCV001082148

NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)

SNV
Germline

Chr19:38543551

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Central core myopathy
not specified
See cases
RYR1-related myopathy

Criteria Provided
Conflicting Classifications

CA023938

rs_147136339

21 SubmittersRCV000119441 RCV000148797 RCV000655533 RCV000764196 RCV001331321 RCV003398723 RCV002251988 RCV003993810

NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)

SNV
Germline

Chr19:38577955

Pathogenic

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome

Reviewed By Expert Panel

CA024118

rs_193922868

10 SubmittersRCV000119503 RCV003231155 RCV001380753 RCV002498548

NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)

SNV
Germline

Chr19:38586140

Likely pathogenic

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Malignant hyperthermia of anesthesia
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome

Reviewed By Expert Panel

CA024276

rs_146876145

21 SubmittersRCV000119571 RCV000148804 RCV000554319 RCV000605381 RCV001249254 RCV001729396 RCV002505053

NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)

SNV
Germline

Chr19:38457546

Pathogenic; drug response

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
halothane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome

Reviewed By Expert Panel

CA024313

rs_193922772

7 SubmittersRCV000119587 RCV001068141 RCV001705880 RCV002222024 RCV002222025 RCV002222026 RCV002222020 RCV002222022 RCV002222021 RCV002222023 RCV002477305

NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)

SNV
Germline

Chr19:38485838

Likely pathogenic

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Malignant hyperthermia of anesthesia
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome

Reviewed By Expert Panel

CA024494

rs_193922781

14 SubmittersRCV000119633 RCV000148807 RCV001057054 RCV001449805 RCV001265978 RCV002505055

NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)

SNV
Germline

Chr19:38496901

Likely pathogenic

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
not specified
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Malignant hyperthermia of anesthesia

Reviewed By Expert Panel

CA024651

rs_193922797

12 SubmittersRCV000119670 RCV000185536 RCV000502398 RCV000691232 RCV002492409 RCV003323407

NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)

SNV
Germline

Chr19:38499670

Pathogenic; drug response

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder
halothane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
desflurane response - Toxicity
enflurane response - Toxicity
succinylcholine response - Toxicity
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia of anesthesia

Reviewed By Expert Panel

CA024693

rs_193922803

11 SubmittersRCV000119682 RCV000763425 RCV000578408 RCV000803469 RCV001787995 RCV001787996 RCV001787997 RCV001787998 RCV001787993 RCV001787994 RCV001787999 RCV002281944 RCV004017408

NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)

SNV
Germline

Chr19:38499975

Likely pathogenic; drug response

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
halothane response - Toxicity
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Inborn genetic diseases
enflurane response - Toxicity
isoflurane response - Toxicity
Malignant hyperthermia, susceptibility to

Reviewed By Expert Panel

CA024738

rs_193922809

13 SubmittersRCV000119695 RCV001127650 RCV001127649 RCV001236218 RCV001788011 RCV001788012 RCV001788013 RCV001788007 RCV001788009 RCV001127651 RCV002492410 RCV004019662 RCV001788008 RCV001788010 RCV004556734

NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)

SNV
Germline

Chr19:38499984

Likely pathogenic

Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024744

rs_193922810

6 SubmittersRCV000119697 RCV001216014 RCV001197604 RCV001802868

NM_014241.4(HACD1):c.744C>A (p.Tyr248Ter)

SNV
Germline

Chr10:17594245

Pathogenic

Congenital myopathy 11

No Assertion Criteria Provided

CA249437

rs_606231257

1 SubmittersRCV002269927

NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)

SNV
Germline

Chr19:38496466

Conflicting classifications of pathogenicity

Condition: not provided
Multi-minicore disease and atypical periodic paralysis
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease
Central core myopathy
RYR1-related disorder
Hydrops fetalis
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA024643

rs_200563280

23 SubmittersRCV000147436 RCV000148787 RCV000171129 RCV000178453 RCV000263175 RCV000525302 RCV001257398 RCV001530191 RCV002505131

NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)

SNV
Germline

Chr19:38459253

Conflicting classifications of pathogenicity

Myopathy, RYR1-associated
not specified
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Condition: not provided
Inborn genetic diseases
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA024341

rs_147320363

17 SubmittersRCV000148816 RCV000153861 RCV000210004 RCV000533102 RCV000723802 RCV002514856 RCV002492546

NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)

SNV
Germline

Chr19:38466176

Conflicting classifications of pathogenicity

Congenital myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA024378

rs_150993059

8 SubmittersRCV000148809 RCV000209988 RCV000655531 RCV001565509 RCV002265625

NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)

SNV
Germline

Chr19:38477821

Conflicting classifications of pathogenicity

Congenital myopathy
Condition: not provided
RYR1-related disorder
not specified
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Congenital myopathy with fiber type disproportion
Neuromuscular disease
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024441

rs_200546266

15 SubmittersRCV000148819 RCV000520385 RCV000534955 RCV000501380 RCV000855482 RCV001198313 RCV004017422 RCV003998172

NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)

SNV
Germline

Chr19:38543420

Pathogenic/Likely pathogenic

Congenital myopathy
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Inborn genetic diseases
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Multiple Submitters
No Conflicts

CA023934

rs_377178986

9 SubmittersRCV000148788 RCV000721251 RCV000704053 RCV000990206 RCV001266922 RCV001795258 RCV002478416

NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)

SNV
Germline

Chr14:23424876

Pathogenic/Likely pathogenic

Condition: not provided
Myopathy
Hypertrophic cardiomyopathy 1
Hypertrophic cardiomyopathy
Congenital myopathy with fiber type disproportion
Dilated cardiomyopathy 1S
Hypertrophic cardiomyopathy 1
Cardiomyopathy
Dilated cardiomyopathy 1S
Myopathy, myosin storage, autosomal recessive
Cardiovascular phenotype
6 conditions
Myosin storage myopathy
MYH7-related skeletal myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA012656

rs_2754158

17 SubmittersRCV000225738 RCV000415053 RCV000201448 RCV000457606 RCV001198295 RCV003448270 RCV001524491 RCV003333029 RCV003333031 RCV002453490 RCV002505152 RCV003333032 RCV003333030

NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)

SNV
Germline

Chr14:23426810

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Congenital myopathy with fiber type disproportion
Hypertrophic cardiomyopathy 1

Criteria Provided
Conflicting Classifications

CA011560

rs_727503263

9 SubmittersRCV000461116 RCV000770495 RCV000620591 RCV000766426 RCV001197245 RCV001258093

NM_152263.4(TPM3):c.547C>T (p.Arg183Ter)

SNV
Germline

Chr1:154172927

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
TPM3-related myopathy

Criteria Provided
Conflicting Classifications

CA235008

rs_727504181

3 SubmittersRCV000154017 RCV002516101 RCV002514966

NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)

SNV
Germline

Chr14:23430634

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy 1
Hypertrophic cardiomyopathy
Cardiomyopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA016961

rs_730880923

7 SubmittersRCV000158882 RCV000584771 RCV000536809 RCV001187174 RCV001270160

NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)

SNV
Germline

Chr19:38505910

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA024923

rs_144777676

7 SubmittersRCV000179139 RCV000526318 RCV000680153 RCV000765450 RCV001122357 RCV001122358

NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)

SNV
Germline

Chr19:38543564

Conflicting classifications of pathogenicity

Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA023939

rs_794727946

4 SubmittersRCV000180427 RCV002500520 RCV001852247 RCV003996587

NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)

SNV
Germline

Chr19:38561329

Pathogenic/Likely pathogenic

Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA023986

rs_772494345

4 SubmittersRCV000721273 RCV002492793 RCV003591696

NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)

SNV
Germline

Chr19:38565378

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA024031

rs_794727985

4 SubmittersRCV000180735 RCV000543194 RCV002503701

NM_000540.3(RYR1):c.14304-6C>A

SNV
Germline

Chr19:38578138

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA024125

rs_794728693

3 SubmittersRCV000182600 RCV000702407 RCV002485210

NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)

SNV
Germline

Chr7:143332755

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA347374

rs_774843953

7 SubmittersRCV000193137 RCV000518351 RCV000701519 RCV003313944

NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)

SNV
Germline

Chr7:143341995

Pathogenic

Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347407

rs_762754992

5 SubmittersRCV000194136 RCV000793565 RCV001823126 RCV003326370

NM_001100.4(ACTA1):c.867C>T (p.Ile289=)

SNV
Germline

Chr1:229431844

Conflicting classifications of pathogenicity

not specified
Familial restrictive cardiomyopathy
Actin accumulation myopathy
Congenital myopathy with fiber type disproportion
ACTA1-related disorder

Criteria Provided
Conflicting Classifications

CA208117

rs_140074813

4 SubmittersRCV000194143 RCV001099821 RCV001099822 RCV001099823 RCV003947591

NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)

SNV
Germline

Chr1:25805153

Conflicting classifications of pathogenicity

not specified
Eichsfeld type congenital muscular dystrophy
Condition: not provided
SEPN1-related disorder
Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA207149

rs_201692549

8 SubmittersRCV000193575 RCV000543024 RCV000725931 RCV001097302 RCV002492881

NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)

SNV
Germline

Chr19:38580504

Conflicting classifications of pathogenicity

not specified
RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA061474

rs_536148030

4 SubmittersRCV000192736 RCV000706064 RCV002485290 RCV003996907

NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)

SNV
Germline

Chr19:38502946

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
not specified
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
RYR1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA071016

rs_148041292

8 SubmittersRCV000209968 RCV000678749 RCV000765449 RCV000800203 RCV001356636

NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)

SNV
Germline

Chr19:38536758

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
RYR1-related disorder
Myalgia
Exercise-induced myalgia
Elevated circulating creatine kinase concentration
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy

Criteria Provided
Conflicting Classifications

CA057247

rs_138593495

5 SubmittersRCV000210015 RCV000521020 RCV000547789 RCV000626705 RCV000764195

NM_001100.4(ACTA1):c.460G>C (p.Val154Leu)

SNV
Germline

Chr1:229432426

Likely pathogenic

Congenital muscular dystrophy with rigid spine
Congenital myopathy 2b, severe infantile, autosomal recessive

Criteria Provided
Single Submitter

CA10575964

rs_768144106

2 SubmittersRCV000230128 RCV003221864

NM_003289.4(TPM2):c.181T>C (p.Ser61Pro)

SNV
Germline

Chr9:35689205

Conflicting classifications of pathogenicity

Congenital myopathy 23
Arthrogryposis, distal, type 1A

Criteria Provided
Conflicting Classifications

CA10575977

rs_878854363

2 SubmittersRCV000234310 RCV001853365

NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)

SNV
Germline

Chr19:38458154

Pathogenic

RYR1-related disorder
Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16616833

rs_878854365

4 SubmittersRCV000550931 RCV001782728 RCV002500828

NM_000540.3(RYR1):c.10347+1G>A

SNV
Germline

Chr19:38523116

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA053108

rs_111436401

9 SubmittersRCV000210710 RCV000521927 RCV000695241 RCV000763426 RCV000995628 RCV002259320

NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)

SNV
Germline

Chr17:63941922

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Hyperkalemic periodic paralysis
Congenital myopathy 22A, classic
Congenital myasthenic syndrome 16

Criteria Provided
Conflicting Classifications

CA10584065

rs_879253789

4 SubmittersRCV000235032 RCV001056500 RCV003227471 RCV002512068

NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)

SNV
Germline

Chr7:143330817

Conflicting classifications of pathogenicity

not specified
Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Conflicting Classifications

CA4537173

rs_118066140

12 SubmittersRCV000239241 RCV000404319 RCV000513813 RCV000660618 RCV001086594

NM_000083.3(CLCN1):c.2284+5C>T

SNV
Germline

Chr7:143346256

Conflicting classifications of pathogenicity

not specified
Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4537608

rs_74824159

10 SubmittersRCV000238941 RCV000407412 RCV000545584 RCV001199130 RCV001705317

NM_000083.3(CLCN1):c.774+1G>A

SNV
Germline

Chr7:143323387

Pathogenic

Condition: not provided
Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Multiple Submitters
No Conflicts

CA4537075

rs_776073429

6 SubmittersRCV000254934 RCV000305146 RCV000543122

NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter)

SNV
Germline

Chr1:229432575

Pathogenic/Likely pathogenic

Condition: not provided
Progressive scapulohumeroperoneal distal myopathy
Actin accumulation myopathy
Congenital myopathy with fiber type disproportion
Actin accumulation myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1442883

rs_371410845

3 SubmittersRCV000261100 RCV001814140 RCV002519066

NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)

SNV
Germline

Chr1:25809150

Pathogenic/Likely pathogenic

Condition: not provided
Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA696660

rs_199564797

9 SubmittersRCV000358099 RCV000800896 RCV000791286 RCV003985311

NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)

SNV
Germline

Chr7:143339304

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA4537377

rs_146457619

11 SubmittersRCV000342021 RCV000638257 RCV000778823 RCV001252999 RCV001589311

NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)

SNV
Germline

Chr1:25815660

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy
SELENON-related disorder

Criteria Provided
Conflicting Classifications

CA696975

rs_183272965

7 SubmittersRCV000340120 RCV000723478 RCV000765103 RCV001083468 RCV003920033

NM_000083.3(CLCN1):c.1392C>T (p.Phe464=)

SNV
Germline

Chr7:143332864

Conflicting classifications of pathogenicity

Condition: not provided
Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA4537336

rs_201919331

6 SubmittersRCV000513242 RCV001161643 RCV001084293

NM_152263.4(TPM3):c.*1152C>T

SNV
Germline

Chr1:154166785

Conflicting classifications of pathogenicity

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA10607729

rs_535068015

1 SubmittersRCV000265463 RCV000364785

NM_152263.4(TPM3):c.*5594G>T

SNV
Germline

Chr1:154162343

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive

Criteria Provided
Conflicting Classifications

CA10607842

rs_550606876

1 SubmittersRCV000263606 RCV000316425

NM_152263.4(TPM3):c.495+7G>C

SNV
Germline

Chr1:154173077

Conflicting classifications of pathogenicity

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA1125707

rs_749792884

2 SubmittersRCV000342262 RCV000390605 RCV002059333

NM_152263.4(TPM3):c.327T>G (p.Thr109=)

SNV
Germline

Chr1:154176165

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA1125742

rs_764255899

2 SubmittersRCV000301387 RCV000394360 RCV000875762

NM_152263.4(TPM3):c.804C>T (p.Tyr268=)

SNV
Germline

Chr1:154169355

Conflicting classifications of pathogenicity

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA1125508

rs_762511246

2 SubmittersRCV000285057 RCV000377153 RCV002059332

NM_152263.4(TPM3):c.378-13C>T

SNV
Germline

Chr1:154173214

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA1125717

rs_367548433

2 SubmittersRCV000297760 RCV000336326 RCV002059334

NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn)

SNV
Germline

Chr1:201043321

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA083665

rs_146696748

4 SubmittersRCV000362920 RCV000815102 RCV003454873 RCV003454872 RCV003458395

NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile)

SNV
Germline

Chr1:201089269

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA084030

rs_138205421

4 SubmittersRCV000296457 RCV000811152 RCV003454913 RCV003458419 RCV003454912

NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=)

SNV
Germline

Chr1:201061970

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079486

rs_371818752

4 SubmittersRCV000259670 RCV001053276 RCV003454886 RCV003458404 RCV003454885

NM_001100.4(ACTA1):c.108C>T (p.Ile36=)

SNV
Germline

Chr1:229433008

Conflicting classifications of pathogenicity

Actin accumulation myopathy
Familial restrictive cardiomyopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA1442937

rs_143948837

2 SubmittersRCV000289010 RCV000325221 RCV000378765

NM_001100.4(ACTA1):c.454+3G>T

SNV
Germline

Chr1:229432553

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Familial restrictive cardiomyopathy
Actin accumulation myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1442878

rs_200976037

3 SubmittersRCV000292022 RCV000345366 RCV000407640 RCV003137910

NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val)

SNV
Germline

Chr7:143332457

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Conflicting Classifications

CA4537279

rs_202119213

5 SubmittersRCV000297363 RCV000481219 RCV001078695

NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr)

SNV
Germline

Chr7:143346197

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
not specified
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4537594

rs_149316679

5 SubmittersRCV000279484 RCV000518175 RCV000638263 RCV001712348

NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr)

SNV
Germline

Chr7:143350604

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Conflicting Classifications

CA4537729

rs_201861334

6 SubmittersRCV000368010 RCV000711230 RCV000700433

NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=)

SNV
Germline

Chr7:143350609

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Conflicting Classifications

CA4537730

rs_775384507

3 SubmittersRCV000402752 RCV000991821 RCV002519502

NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)

SNV
Germline

Chr7:143320675

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Tip-toe gait

Criteria Provided
Conflicting Classifications

rs_201509501

7 SubmittersRCV000998933 RCV000792000 RCV001161535 RCV003994119 RCV003319210

NM_000083.3(CLCN1):c.756G>A (p.Val252=)

SNV
Germline

Chr7:143323368

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Conflicting Classifications

CA10625396

rs_886062034

2 SubmittersRCV000391740 RCV002524524

NM_000083.3(CLCN1):c.1251+11G>T

SNV
Germline

Chr7:143332514

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Conflicting Classifications

CA4537288

rs_780748786

2 SubmittersRCV000356921 RCV003766064

NM_003289.4(TPM2):c.564-9C>T

SNV
Germline

Chr9:35684816

Conflicting classifications of pathogenicity

Congenital myopathy 23
not specified
Condition: not provided
Arthrogryposis, distal, type 1A

Criteria Provided
Conflicting Classifications

CA5047244

rs_763429317

4 SubmittersRCV000278603 RCV000607973 RCV001288083 RCV000875847

NM_000083.3(CLCN1):c.156C>T (p.Pro52=)

SNV
Germline

Chr7:143316368

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Conflicting Classifications

CA10628372

rs_886062032

2 SubmittersRCV000266956 RCV003766063

NM_000083.3(CLCN1):c.314G>A (p.Arg105His)

SNV
Germline

Chr7:143320676

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4536913

rs_756353660

5 SubmittersRCV000263405 RCV000536073 RCV001571296 RCV004022040

NM_000083.3(CLCN1):c.*29C>A

SNV
Germline

Chr7:143351994

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4537831

rs_202172391

2 SubmittersRCV000366724 RCV003144241

NM_003289.4(TPM2):c.-10C>A

SNV
Germline

Chr9:35689827

Conflicting classifications of pathogenicity

Arthrogryposis, distal, type 1A
Congenital myopathy 23
not specified
TPM2-related disorder

Criteria Provided
Conflicting Classifications

CA5047475

rs_372751531

3 SubmittersRCV000336042 RCV000394289 RCV000503446 RCV004544715

NM_003289.4(TPM2):c.*25A>C

SNV
Germline

Chr9:35683134

Conflicting classifications of pathogenicity

Arthrogryposis, distal, type 1A
Congenital myopathy 23

Criteria Provided
Conflicting Classifications

CA5047140

rs_781513152

1 SubmittersRCV000304035 RCV000399833

NM_000540.3(RYR1):c.13998+3G>A

SNV
Germline

Chr19:38572273

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA060696

rs_765404523

4 SubmittersRCV000279016 RCV000282567 RCV000336443 RCV000374610 RCV001323430 RCV002487452

NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)

SNV
Unknown

Chr17:63964587

Conflicting classifications of pathogenicity

Muscle weakness
Myotonia
Batten-Turner congenital myopathy
Limb pain
Muscle weakness
EMG: myotonic discharges
Pain
Distal sensory impairment
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA16043537

rs_121908552

1 SubmittersRCV000414792 RCV000415234 RCV000626662 RCV001197414

NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)

SNV
Germline

Chr19:38473726

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
not specified

Criteria Provided
Conflicting Classifications

CA065572

rs_370966353

11 SubmittersRCV000415245 RCV000487533 RCV000690328 RCV001128279 RCV001128278 RCV001128280 RCV001198358 RCV003993948

NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)

SNV
Germline

Chr19:38499718

Conflicting classifications of pathogenicity

Proximal amyotrophy
Delayed gross motor development
Short stature
Congenital contracture
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16043555

rs_1057518940

3 SubmittersRCV000414976 RCV001198534 RCV001233334 RCV003133254

NM_152263.4(TPM3):c.831C>T (p.His277=)

SNV
Germline

Chr1:154169328

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA1125504

rs_781032589

2 SubmittersRCV000415940 RCV001418356

NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=)

SNV
Germline

Chr1:201047211

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA083451

rs_765581827

4 SubmittersRCV000422829 RCV001397065 RCV003456073 RCV003458436 RCV003456074 RCV003456072

NM_001378030.1(CCDC78):c.267+3G>A

SNV
Germline

Chr16:725791

Conflicting classifications of pathogenicity

not specified
Congenital myopathy with internal nuclei and atypical cores

Criteria Provided
Conflicting Classifications

CA7789689

rs_749827376

2 SubmittersRCV000433929 RCV001352422

NM_000540.3(RYR1):c.7835+1G>A

SNV
Germline

Chr19:38502728

Likely pathogenic

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16607795

rs_1057524858

3 SubmittersRCV000442837 RCV001865407 RCV002488988

NM_000540.3(RYR1):c.11590+1G>T

SNV
Germline

Chr19:38536071

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Centronuclear myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16608213

rs_113928116

5 SubmittersRCV000438320 RCV000803108 RCV002502495 RCV004017611 RCV003996031

NM_000257.4(MYH7):c.2631G>T (p.Met877Ile)

SNV
Germline

Chr14:23424817

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
Congenital myopathy with fiber type disproportion
Hypertrophic cardiomyopathy 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16609633

rs_1060505018

5 SubmittersRCV000477668 RCV001197233 RCV002466513 RCV004023097

NM_001843.4(CNTN1):c.278T>C (p.Met93Thr)

SNV
Germline

Chr12:40922306

Conflicting classifications of pathogenicity

Condition: not provided
Compton-North congenital myopathy

Criteria Provided
Conflicting Classifications

CA6516571

rs_142755965

2 SubmittersRCV000481172 RCV001044442

NM_001843.4(CNTN1):c.2644G>A (p.Gly882Arg)

SNV
Germline

Chr12:41025270

Conflicting classifications of pathogenicity

Condition: not provided
Compton-North congenital myopathy

Criteria Provided
Conflicting Classifications

CA6517196

rs_138121813

2 SubmittersRCV000487172 RCV001205215

NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)

SNV
Germline

Chr12:57244222

Pathogenic/Likely pathogenic

Condition: not provided
Bailey-Bloch congenital myopathy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA6646959

rs_371720347

5 SubmittersRCV000487670 RCV000677630 RCV001267514

NM_001378030.1(CCDC78):c.1241C>A (p.Ala414Asp)

SNV
Germline

Chr16:722982

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789106

rs_369081589

3 SubmittersRCV000487557 RCV001851289 RCV002525992

NM_000540.3(RYR1):c.4160+1G>A

SNV
Germline

Chr19:38473772

Likely pathogenic

Hypotonia
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA405643333

rs_113460156

3 SubmittersRCV000490681 RCV002489200 RCV003757181

NM_001843.4(CNTN1):c.1749C>T (p.Cys583=)

SNV
Germline

Chr12:40959179

Conflicting classifications of pathogenicity

not specified
Compton-North congenital myopathy

Criteria Provided
Conflicting Classifications

CA6516926

rs_768838928

2 SubmittersRCV000503918 RCV000871125

NM_001378030.1(CCDC78):c.730G>A (p.Val244Ile)

SNV
Germline

Chr16:724716

Conflicting classifications of pathogenicity

not specified
Congenital myopathy with internal nuclei and atypical cores

Criteria Provided
Conflicting Classifications

CA7789446

rs_752077571

2 SubmittersRCV000504010 RCV000540447

NM_152263.4(TPM3):c.43G>C (p.Asp15His)

SNV
Germline

Chr1:154191976

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Condition: not provided
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA342587512

rs_1553251644

3 SubmittersRCV000503601 RCV000727596 RCV000806717

NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)

SNV
Germline

Chr19:38473488

Conflicting classifications of pathogenicity

Multiminicore myopathy
Malignant hyperthermia, susceptibility to, 1
Centronuclear myopathy
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA065302

rs_146407179

6 SubmittersRCV000509349 RCV001223356 RCV001703183 RCV004003564

NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser)

SNV
Germline

Chr7:143346201

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Batten-Turner congenital myopathy

Criteria Provided
Conflicting Classifications

CA4537596

rs_144612641

5 SubmittersRCV000516763 RCV000552273 RCV001165266

NM_001378030.1(CCDC78):c.973G>C (p.Ala325Pro)

SNV
Germline

Chr16:724186

Conflicting classifications of pathogenicity

not specified
Congenital myopathy with internal nuclei and atypical cores

Criteria Provided
Conflicting Classifications

CA7789312

rs_780197880

2 SubmittersRCV000516842 RCV000650516

NM_152263.4(TPM3):c.455C>T (p.Ala152Val)

SNV
Germline

Chr1:154173124

Pathogenic/Likely pathogenic

Condition: not provided
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Multiple Submitters
No Conflicts

CA342584351

rs_1553249076

2 SubmittersRCV000522047 RCV001857960

NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)

SNV
Germline

Chr7:143351862

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Condition: not provided
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form

Criteria Provided
Conflicting Classifications

CA4537805

rs_150796358

7 SubmittersRCV001161762 RCV000711231 RCV000798907 RCV003883154

NM_000540.3(RYR1):c.9472+1G>A

SNV
Germline

Chr19:38512484

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA073621

rs_776697656

6 SubmittersRCV000522844 RCV001266974 RCV001858000 RCV002506276 RCV004003622

NM_000540.3(RYR1):c.14129+1G>A

SNV
Germline

Chr19:38573308

Likely pathogenic

Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA060836

rs_142929172

4 SubmittersRCV000519097 RCV001851492 RCV002497013

NM_152263.4(TPM3):c.758C>A (p.Thr253Lys)

SNV
Germline

Chr1:154170417

Pathogenic

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive

Criteria Provided
Single Submitter

CA342582852

rs_1553248515

1 SubmittersRCV000524673

NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)

SNV
Germline

Chr1:229431508

Conflicting classifications of pathogenicity

Actin accumulation myopathy
Familial restrictive cardiomyopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA1442703

rs_142311664

2 SubmittersRCV000546819 RCV001096304 RCV001096305

NM_003289.4(TPM2):c.374+9G>C

SNV
Germline

Chr9:35685638

Conflicting classifications of pathogenicity

Arthrogryposis, distal, type 1A
Congenital myopathy 23
TPM2-related disorder

Criteria Provided
Conflicting Classifications

CA5047388

rs_200730708

3 SubmittersRCV000556694 RCV001168543 RCV004541649

NM_001843.4(CNTN1):c.1683+1G>A

SNV
Germline

Chr12:40944171

Likely pathogenic

Compton-North congenital myopathy

Criteria Provided
Single Submitter

CA384425188

rs_1555185778

1 SubmittersRCV000539454

NM_001843.4(CNTN1):c.2795C>A (p.Ser932Ter)

SNV
Germline

Chr12:41027941

Pathogenic

Compton-North congenital myopathy

Criteria Provided
Single Submitter

CA384587984

rs_1555201269

1 SubmittersRCV000526899

NM_001378030.1(CCDC78):c.1275G>A (p.Gln425=)

SNV
Germline

Chr16:722948

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
CCDC78-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789100

rs_760280521

3 SubmittersRCV000546211 RCV003945300 RCV004024230

NM_001378030.1(CCDC78):c.368G>A (p.Arg123Gln)

SNV
Germline

Chr16:725480

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789636

rs_201924732

2 SubmittersRCV000544640 RCV004024231

NM_001378030.1(CCDC78):c.365C>T (p.Pro122Leu)

SNV
Germline

Chr16:725483

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7789638

rs_745392382

2 SubmittersRCV000534408 RCV001755887

NM_001378030.1(CCDC78):c.468T>G (p.Asn156Lys)

SNV
Germline

Chr16:725261

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7789585

rs_370998388

2 SubmittersRCV000537626 RCV003156257

NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln)

SNV
Germline

Chr17:63947061

Pathogenic

Hyperkalemic periodic paralysis
Congenital myopathy 22A, classic

Criteria Provided
Single Submitter

CA8709288

rs_780703403

2 SubmittersRCV000557400 RCV003227493

NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)

SNV
Germline

Chr19:38483429

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
King Denborough syndrome
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA066462

rs_776194441

5 SubmittersRCV000541033 RCV001546453 RCV002476208 RCV004024433

NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)

SNV
Germline

Chr19:38585967

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA405692312

rs_1432807966

6 SubmittersRCV000541517 RCV000595499 RCV002250657 RCV002497202 RCV003999490

NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)

SNV
Germline

Chr19:38566950

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA059891

rs_149455643

5 SubmittersRCV000551114 RCV000764199 RCV000623122 RCV001797108

NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)

SNV
Germline

Chr19:38573248

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA060795

rs_113058779

5 SubmittersRCV001078943 RCV000827374 RCV002497201 RCV003999489

NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)

SNV
Germline

Chr19:38485942

Conflicting classifications of pathogenicity

RYR1-related disorder
King Denborough syndrome
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA066855

rs_202225176

3 SubmittersRCV000526099 RCV002483516 RCV003133373

NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr)

SNV
Germline

Chr19:38496276

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA308104063

rs_745432757

2 SubmittersRCV000558724 RCV002506378

NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)

SNV
Germline

Chr19:38444167

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA066047

rs_151325948

8 SubmittersRCV000623845 RCV000721535 RCV000818782 RCV003514380 RCV002497264

NM_152263.4(TPM3):c.643-3C>T

SNV
Germline

Chr1:154170714

Conflicting classifications of pathogenicity

not specified
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1125562

rs_529845435

3 SubmittersRCV000606959 RCV001860277 RCV003139912

NM_000069.3(CACNA1S):c.4377C>T (p.Gly1459=)

SNV
Germline

Chr1:201048646

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA083316

rs_138189035

4 SubmittersRCV000605825 RCV000983807 RCV003451442 RCV003456108 RCV003456107 RCV003458478

NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=)

SNV
Germline

Chr1:201083265

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA422691707

rs_1241905770

4 SubmittersRCV000614872 RCV002529688 RCV003451420 RCV003451421 RCV003458473 RCV003451422

NM_000540.3(RYR1):c.8446A>G (p.Met2816Val)

SNV
Germline

Chr19:38505851

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA072049

rs_775492883

3 SubmittersRCV000626286 RCV003133414 RCV002529788

NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)

SNV
Germline

Chr19:38452838

Conflicting classifications of pathogenicity

Myalgia
Exercise-induced myalgia
Elevated circulating creatine kinase concentration
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Condition: not provided
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA059313

rs_757157750

6 SubmittersRCV000626706 RCV001198660 RCV001297707 RCV001532375 RCV001729664 RCV004002758

NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)

SNV
Germline

Chr19:38517520

Pathogenic/Likely pathogenic

Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA074223

rs_752199191

8 SubmittersRCV000627253 RCV001809708 RCV001855333 RCV002499018

NM_152263.4(TPM3):c.298C>G (p.Leu100Val)

SNV
Germline

Chr1:154176194

Likely pathogenic

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

CA342585012

rs_121964853

1 SubmittersRCV000637290

NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)

SNV
Germline

Chr1:201044407

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
CACNA1S-related disorder
Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA083555

rs_183195890

5 SubmittersRCV000651269 RCV003451581 RCV003451582 RCV002493045 RCV003953183 RCV004025825 RCV003451580 RCV003458497

NM_001843.4(CNTN1):c.2923G>T (p.Glu975Ter)

SNV
Germline

Chr12:41029162

Pathogenic

Compton-North congenital myopathy

Criteria Provided
Single Submitter

CA384588280

rs_1555201480

1 SubmittersRCV000645985

NM_001378030.1(CCDC78):c.536G>A (p.Arg179Gln)

SNV
Germline

Chr16:725102

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7789543

rs_560987339

2 SubmittersRCV000650511 RCV002531962

NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser)

SNV
Germline

Chr19:38499954

Conflicting classifications of pathogenicity

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA069413

rs_193922808

6 SubmittersRCV000655593 RCV001125555 RCV001125554 RCV002275123 RCV002507140

NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)

SNV
Germline

Chr19:38517532

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
not specified
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA074235

rs_201276068

5 SubmittersRCV000655563 RCV000721760 RCV002307581 RCV002499131

NM_000540.3(RYR1):c.7836-1G>A

SNV
Germline

Chr19:38502879

Likely pathogenic

Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568507354

3 SubmittersRCV000678325 RCV002493120 RCV003591771

NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)

SNV
Germline

Chr19:38442391

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_1456276440

5 SubmittersRCV000680086 RCV001784304 RCV001861877 RCV002507180 RCV004004220

NM_000257.4(MYH7):c.5560-2A>C

SNV
Germline

Chr14:23414104

Likely pathogenic

MYH7-related skeletal myopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

rs_1566521710

1 SubmittersRCV000681617 RCV001199131

NM_000069.3(CACNA1S):c.1827+6C>T

SNV
Germline

Chr1:201076914

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
CACNA1S-related disorder

Criteria Provided
Conflicting Classifications

rs_202244301

5 SubmittersRCV000689838 RCV002485628 RCV003446350 RCV003446351 RCV003446349 RCV003446348 RCV003907948

NM_001256545.2(MEGF10):c.319C>T (p.Pro107Ser)

SNV
Germline

Chr5:127340630

Conflicting classifications of pathogenicity

MEGF10-related myopathy
Congenital myopathy 10b, mild variant

Criteria Provided
Conflicting Classifications

rs_200163743

2 SubmittersRCV000699779 RCV003989586

NM_145064.3(STAC3):c.739C>T (p.Gln247Ter)

SNV
Germline

Chr12:57244604

Pathogenic

Bailey-Bloch congenital myopathy

Criteria Provided
Single Submitter

rs_1202215410

1 SubmittersRCV000700459

NM_001378030.1(CCDC78):c.23G>A (p.Gly8Asp)

SNV
Germline

Chr16:726345

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_181469519

3 SubmittersRCV000698790 RCV001288562

NM_001378030.1(CCDC78):c.1281C>T (p.Tyr427=)

SNV
Germline

Chr16:722942

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_142180051

2 SubmittersRCV000694693 RCV004569324

NM_000540.3(RYR1):c.14869-5C>G

SNV
Germline

Chr19:38586086

Conflicting classifications of pathogenicity

RYR1-related disorder
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

rs_1199304403

2 SubmittersRCV000695461 RCV002499246

NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)

SNV
Germline

Chr19:38460545

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_146754847

6 SubmittersRCV000693319 RCV000721454 RCV002477569 RCV003999596

NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)

SNV
Germline

Chr19:38477860

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_747718728

6 SubmittersRCV000693287 RCV002477568 RCV003130003 RCV002531464 RCV003999595

NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp)

SNV
Germline

Chr1:25811710

Conflicting classifications of pathogenicity

Condition: not provided
Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
See cases

Criteria Provided
Conflicting Classifications

rs_745886248

7 SubmittersRCV000713178 RCV000791287 RCV001861985 RCV003985417

NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)

SNV
Germline

Chr7:143320774

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Batten-Turner congenital myopathy
CLCN1-related disorder

Criteria Provided
Conflicting Classifications

rs_762344462

5 SubmittersRCV000711232 RCV001405014 RCV001163064 RCV004544955

NM_000540.3(RYR1):c.2287G>A (p.Val763Met)

SNV
Germline

Chr19:38459265

Conflicting classifications of pathogenicity

Condition: not provided
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
RYR1-related disorder

Criteria Provided
Conflicting Classifications

rs_369947687

4 SubmittersRCV000721445 RCV002493286 RCV002533063

NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)

SNV
Germline

Chr19:38485969

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

rs_1568484835

4 SubmittersRCV000721586 RCV001036189 RCV002493289

NM_000540.3(RYR1):c.9001-15C>A

SNV
Germline

Chr19:38510645

Conflicting classifications of pathogenicity

Condition: not provided
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_372702492

4 SubmittersRCV000721725 RCV002485829 RCV003768164 RCV003999866

NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)

SNV
Germline

Chr19:38517565

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy

Criteria Provided
Conflicting Classifications

rs_544339193

4 SubmittersRCV000721762 RCV001312367 RCV002485830

NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)

SNV
Germline

Chr19:38565514

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_748844266

6 SubmittersRCV000721305 RCV001362581 RCV002507264 RCV004026924

NM_000540.3(RYR1):c.14173-2A>G

SNV
Germline

Chr19:38577916

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_1189024951

6 SubmittersRCV000721355 RCV000814221 RCV002499325 RCV003999821

NM_003289.4(TPM2):c.269G>A (p.Arg90His)

SNV
Germline

Chr9:35685752

Likely pathogenic

Congenital myopathy 23

Criteria Provided
Single Submitter

rs_1563929454

1 SubmittersRCV000754748

NM_079420.3(MYL1):c.479-2A>G

SNV
Germline

Chr2:210293802

Pathogenic

Congenital myopathy with reduced type 2 muscle fibers

No Assertion Criteria Provided

rs_1559659233

1 SubmittersRCV000770785

NM_079420.3(MYL1):c.488T>G (p.Met163Arg)

SNV
Germline

Chr2:210293791

Likely pathogenic

Congenital myopathy with reduced type 2 muscle fibers

Criteria Provided
Single Submitter

rs_1259220084

2 SubmittersRCV000770786

NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)

SNV
Germline

Chr1:201070363

Pathogenic/Likely pathogenic

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_770073633

4 SubmittersRCV000782246 RCV001869163 RCV003458516 RCV003456143 RCV003456144 RCV002493430 RCV003453616

NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)

SNV
Germline

Chr1:154176221

Pathogenic

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive

Criteria Provided
Single Submitter

rs_1571418855

1 SubmittersRCV000808390

NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp)

SNV
Germline

Chr7:143323374

Pathogenic/Likely pathogenic

Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Batten-Turner congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_772027125

2 SubmittersRCV000822037 RCV001836901

NM_000083.3(CLCN1):c.962T>A (p.Val321Glu)

SNV
Germline

Chr7:143330880

Pathogenic/Likely pathogenic

Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Batten-Turner congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_780150093

2 SubmittersRCV000800361 RCV001836890

NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile)

SNV
Germline

Chr7:143342467

Conflicting classifications of pathogenicity

Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Batten-Turner congenital myopathy

Criteria Provided
Conflicting Classifications

rs_749762818

2 SubmittersRCV000794383 RCV001163173

NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)

SNV
Germline

Chr19:38466204

Conflicting classifications of pathogenicity

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_1440262870

4 SubmittersRCV000811818 RCV002495127 RCV003141824 RCV004001735

NM_145064.3(STAC3):c.997-1G>T

SNV
Germline

Chr12:57243911

Pathogenic

Bailey-Bloch congenital myopathy

No Assertion Criteria Provided

rs_779483367

2 SubmittersRCV000851531

NM_000257.4(MYH7):c.5655+5G>C

SNV
Germline

Chr14:23414002

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Congenital myopathy
Hypertrophic cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1595070689

2 SubmittersRCV000855671 RCV002538879

NM_000540.3(RYR1):c.46-4G>A

SNV
Germline

Chr19:38440741

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

rs_201094741

4 SubmittersRCV004002997 RCV002487901 RCV000867181

NM_001100.4(ACTA1):c.786G>C (p.Thr262=)

SNV
Germline

Chr1:229432016

Conflicting classifications of pathogenicity

Actin accumulation myopathy
Familial restrictive cardiomyopathy
Congenital myopathy with fiber type disproportion
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141030526

3 SubmittersRCV000877200 RCV001099825 RCV001099824 RCV001545990

NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=)

SNV
Germline

Chr1:201065853

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

rs_759934490

5 SubmittersRCV000887743 RCV002501438 RCV003454930 RCV003454931 RCV003413713 RCV003454932 RCV003458569

NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)

SNV
Germline

Chr1:229431823

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Familial restrictive cardiomyopathy
Actin accumulation myopathy

Criteria Provided
Conflicting Classifications

rs_770931836

2 SubmittersRCV001098049 RCV001098050 RCV001098051

NM_000083.3(CLCN1):c.705C>T (p.Phe235=)

SNV
Germline

Chr7:143323317

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_760323048

3 SubmittersRCV001165162 RCV001433251 RCV003320775

NM_152263.4(TPM3):c.43G>A (p.Asp15Asn)

SNV
Unknown

Chr1:154191976

Likely pathogenic

Congenital myopathy 4B, autosomal recessive

Criteria Provided
Single Submitter

rs_1553251644

1 SubmittersRCV000986418

NM_152263.4(TPM3):c.7G>C (p.Glu3Gln)

SNV
Unknown

Chr1:154192012

Likely pathogenic

Congenital myopathy 4B, autosomal recessive

Criteria Provided
Single Submitter

rs_1571456678

1 SubmittersRCV000986419

NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys)

SNV
Germline

Chr1:201077907

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

rs_751671175

4 SubmittersRCV001101909 RCV001248214 RCV003455023 RCV003455024 RCV003458582

NM_001378030.1(CCDC78):c.268-3C>T

SNV
Germline

Chr16:725583

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myopathy with internal nuclei and atypical cores
CCDC78-related disorder

Criteria Provided
Conflicting Classifications

rs_371386354

3 SubmittersRCV000995449 RCV001052282 RCV003943302

NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter)

SNV
Germline

Chr1:229432120

Pathogenic

Congenital myopathy with fiber type disproportion
Actin accumulation myopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558081664

2 SubmittersRCV000995477 RCV001869389

NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)

SNV
Germline

Chr19:38458169

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_776252106

6 SubmittersRCV001004922 RCV002305557 RCV001862742 RCV002479200 RCV004004475

NM_001036.6(RYR3):c.2000A>G (p.Asp667Gly)

SNV
Germline

Chr15:33603200

Conflicting classifications of pathogenicity

Flexion contracture
Congenital myopathy 20

No Assertion Criteria Provided

rs_1314283337

2 SubmittersRCV001007853 RCV003160165

NM_000069.3(CACNA1S):c.4419G>A (p.Thr1473=)

SNV
Germline

Chr1:201048604

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

rs_540448406

4 SubmittersRCV001040475 RCV001593206 RCV003455165 RCV003455166 RCV003456179 RCV003458597

NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp)

SNV
Germline

Chr1:201089374

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

rs_186538122

3 SubmittersRCV001071065 RCV002489712 RCV003455301 RCV003455303 RCV003455302 RCV003458616

NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)

SNV
Germline

Chr1:25805219

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion

Criteria Provided
Multiple Submitters
No Conflicts

rs_778603129

4 SubmittersRCV001039378 RCV001732020

NM_001843.4(CNTN1):c.1484G>A (p.Ser495Asn)

SNV
Germline

Chr12:40943701

Conflicting classifications of pathogenicity

Compton-North congenital myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201639044

2 SubmittersRCV001042684 RCV003353121

NM_001036.6(RYR3):c.11G>C (p.Gly4Ala)

SNV
Germline

Chr15:33311056

Conflicting classifications of pathogenicity

Epileptic encephalopathy
not specified
Congenital myopathy 20

Criteria Provided
Conflicting Classifications

rs_375998723

3 SubmittersRCV001063110 RCV004030481 RCV003492216

NM_001378030.1(CCDC78):c.620G>A (p.Arg207Gln)

SNV
Germline

Chr16:724930

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_368147684

2 SubmittersRCV001038657 RCV003363055

NM_001378030.1(CCDC78):c.425A>G (p.His142Arg)

SNV
Germline

Chr16:725423

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_147899031

2 SubmittersRCV001041507 RCV004031254

NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys)

SNV
Germline

Chr17:63945465

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16
Congenital myopathy 22A, classic

Criteria Provided
Conflicting Classifications

rs_1181083611

3 SubmittersRCV001065707 RCV002512136 RCV003227512

NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)

SNV
Germline

Chr19:38458108

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_1305971341

5 SubmittersRCV001058792 RCV001784614 RCV002505620 RCV004000105

NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)

SNV
Germline

Chr19:38505340

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_767805554

5 SubmittersRCV001051646 RCV002505599 RCV003490034 RCV003514460

NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)

SNV
Germline

Chr19:38580091

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_193922875

3 SubmittersRCV001040954 RCV002481884 RCV003130110

NM_000540.3(RYR1):c.10824+8G>A

SNV
Germline

Chr19:38527792

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

rs_374325589

2 SubmittersRCV001034975 RCV002489536

NM_152263.4(TPM3):c.*5640C>T

SNV
Germline

Chr1:154162297

Conflicting classifications of pathogenicity

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

rs_564296987

1 SubmittersRCV001097896 RCV001097897

NM_152263.4(TPM3):c.*1077A>C

SNV
Germline

Chr1:154166860

Conflicting classifications of pathogenicity

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

rs_557217738

1 SubmittersRCV001096834 RCV001098594

NM_152263.4(TPM3):c.*157C>T

SNV
Germline

Chr1:154167780

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive

Criteria Provided
Conflicting Classifications

rs_144482403

1 SubmittersRCV001100497 RCV001100498

NM_152263.4(TPM3):c.249G>A (p.Glu83=)

SNV
Germline

Chr1:154176243

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

rs_149765446

2 SubmittersRCV001098780 RCV001098779 RCV002067751

NM_000069.3(CACNA1S):c.2539A>G (p.Ile847Val)

SNV
Germline

Chr1:201069148

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_764821044

4 SubmittersRCV001098033 RCV001504451 RCV003458626 RCV003455453 RCV003455454

NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn)

SNV
Germline

Chr1:201077110

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

rs_373525085

4 SubmittersRCV001099902 RCV001856354 RCV003449554 RCV003490072 RCV003449553 RCV003458628

NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg)

SNV
Germline

Chr1:201091678

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_771569004

4 SubmittersRCV001096584 RCV002555984 RCV003456197 RCV003458625 RCV003456198

NM_001100.4(ACTA1):c.*248G>A

SNV
Germline

Chr1:229431251

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Actin accumulation myopathy
Familial restrictive cardiomyopathy

Criteria Provided
Conflicting Classifications

rs_551585351

1 SubmittersRCV001101717 RCV001101718 RCV001101716

NM_001100.4(ACTA1):c.1128C>T (p.Cys376=)

SNV
Germline

Chr1:229431505

Conflicting classifications of pathogenicity

Familial restrictive cardiomyopathy
Congenital myopathy with fiber type disproportion
Actin accumulation myopathy

Criteria Provided
Conflicting Classifications

rs_1659932688

2 SubmittersRCV001101722 RCV001101723 RCV001096303

NM_001100.4(ACTA1):c.453C>G (p.Thr151=)

SNV
Germline

Chr1:229432557

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Actin accumulation myopathy
Familial restrictive cardiomyopathy

Criteria Provided
Conflicting Classifications

rs_76030344

2 SubmittersRCV001096399 RCV001096397 RCV001096398

NM_001100.4(ACTA1):c.435C>T (p.Tyr145=)

SNV
Germline

Chr1:229432575

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Familial restrictive cardiomyopathy
Actin accumulation myopathy

Criteria Provided
Conflicting Classifications

rs_371410845

2 SubmittersRCV001098139 RCV001098140 RCV001098141

NM_000083.3(CLCN1):c.1443C>T (p.Cys481=)

SNV
Germline

Chr7:143339294

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Conflicting Classifications

rs_781587827

2 SubmittersRCV001161644 RCV003769774

NM_000083.3(CLCN1):c.1832G>A (p.Arg611His)

SNV
Germline

Chr7:143342407

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
not specified

Criteria Provided
Conflicting Classifications

rs_763850295

3 SubmittersRCV001163171 RCV001358944 RCV003323800

NM_000083.3(CLCN1):c.2017G>C (p.Ala673Pro)

SNV
Germline

Chr7:143345607

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Conflicting Classifications

rs_200385034

2 SubmittersRCV001163174 RCV003769787

NM_000083.3(CLCN1):c.697-9C>A

SNV
Germline

Chr7:143323300

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Conflicting Classifications

rs_201207110

2 SubmittersRCV001165161 RCV003769798

NM_000083.3(CLCN1):c.1251+14G>A

SNV
Germline

Chr7:143332517

Conflicting classifications of pathogenicity

Batten-Turner congenital myopathy
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form

Criteria Provided
Conflicting Classifications

rs_1027351084

2 SubmittersRCV001158442 RCV003769757

NM_003289.4(TPM2):c.558C>T (p.Ala186=)

SNV
Germline

Chr9:35685274

Conflicting classifications of pathogenicity

Congenital myopathy 23
Arthrogryposis, distal, type 1A

Criteria Provided
Conflicting Classifications

rs_746177794

2 SubmittersRCV001168541 RCV001168542

NM_001100.4(ACTA1):c.593G>A (p.Arg198His)

SNV
Germline

Chr1:229432293

Pathogenic

Congenital myopathy 2c, severe infantile, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV003228209

NM_000257.4(MYH7):c.2192C>G (p.Pro731Arg)

SNV
Unknown

Chr14:23425789

Likely pathogenic

Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

rs_1247313340

1 SubmittersRCV001198111

NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser)

SNV
Germline

Chr14:23426834

Likely pathogenic

Congenital myopathy with fiber type disproportion
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_397516127

4 SubmittersRCV001196247 RCV001349517 RCV002418658 RCV003106156

NM_001378030.1(CCDC78):c.1178G>A (p.Arg393Gln)

SNV
Germline

Chr16:723117

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_376513788

2 SubmittersRCV001224264 RCV004032500

NM_000540.3(RYR1):c.7029C>T (p.Gly2343=)

SNV
Germline

Chr19:38499636

Conflicting classifications of pathogenicity

RYR1-related disorder
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

rs_138617219

2 SubmittersRCV001217935 RCV002504268

NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)

SNV
Germline

Chr19:38502902

Pathogenic

Condition: not provided
RYR1-related disorder
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1365856881

4 SubmittersRCV001780144 RCV001219907 RCV002491686 RCV003156321

NM_001378030.1(CCDC78):c.196G>A (p.Val66Ile)

SNV
Germline

Chr16:725865

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_145112523

3 SubmittersRCV001208077 RCV001354253 RCV002561668

NM_001843.4(CNTN1):c.1099A>G (p.Asn367Asp)

SNV
Germline

Chr12:40936894

Conflicting classifications of pathogenicity

Compton-North congenital myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201534221

2 SubmittersRCV001228987 RCV002563155

NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)

SNV
Germline

Chr1:201069596

Conflicting classifications of pathogenicity

skeletal contractures
Muscular atrophy
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_1157720606

6 SubmittersRCV001254711 RCV003145495 RCV003152617 RCV003456486 RCV003449815 RCV003449816

NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)

SNV
Germline

Chr9:35683232

Pathogenic/Likely pathogenic

Arthrogryposis, distal, type 1A
Congenital myopathy 23
Condition: not provided
TPM2-related myopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1824676022

5 SubmittersRCV001254895 RCV001573796 RCV003389253

NM_001378030.1(CCDC78):c.1134-19C>T

SNV
Germline

Chr16:723180

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores

Criteria Provided
Conflicting Classifications

rs_1320283995

2 SubmittersRCV001335566

NM_000540.3(RYR1):c.1593C>T (p.Gly531=)

SNV
Germline

Chr19:38455467

Conflicting classifications of pathogenicity

Central core myopathy
RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_927675372

4 SubmittersRCV001334520 RCV001865812 RCV002476551 RCV004005143

NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)

SNV
Germline

Chr19:38458238

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

rs_565825739

6 SubmittersRCV001334521 RCV001702096 RCV002499657 RCV004005144 RCV003591856

NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu)

SNV
Germline

Chr1:201066897

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_553593355

3 SubmittersRCV001343372 RCV002476584 RCV003449965 RCV003449966 RCV003458673 RCV003449967

NM_000540.3(RYR1):c.2682G>T (p.Pro894=)

SNV
Germline

Chr19:38463527

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_919322708

3 SubmittersRCV001370546 RCV002488164 RCV003235565

NM_000540.3(RYR1):c.10347C>T (p.His3449=)

SNV
Germline

Chr19:38523115

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_373702420

3 SubmittersRCV001370548 RCV002504621 RCV004006823

NM_000334.4(SCN4A):c.608T>A (p.Met203Lys)

SNV
Germline

Chr17:63971725

Pathogenic

Hyperkalemic periodic paralysis
Congenital myopathy 22B, severe fetal

Criteria Provided
Single Submitter

rs_933258893

2 SubmittersRCV001387955 RCV003227973

NM_000069.3(CACNA1S):c.4242-10C>G

SNV
Germline

Chr1:201049109

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_574154912

4 SubmittersRCV001411221 RCV002493969 RCV003446746 RCV003446748 RCV003446745 RCV003446747

NM_000432.4(MYL2):c.499T>C (p.Ter167Gln)

SNV
Germline

Chr12:110911079

Likely pathogenic

Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

rs_2071647433

1 SubmittersRCV001507318

NM_000083.3(CLCN1):c.1393G>T (p.Val465Phe)

SNV
Germline

Chr7:143332865

Likely pathogenic

Batten-Turner congenital myopathy

Criteria Provided
Single Submitter

rs_139158852

1 SubmittersRCV001837017

NM_213674.1(TPM2):c.773-2A>C

SNV
Unknown

Chr9:35682165

Likely pathogenic

Congenital myopathy 23

Criteria Provided
Single Submitter

rs_2131843731

1 SubmittersRCV001730076

NM_145064.3(STAC3):c.432+1G>A

SNV
Germline

Chr12:57248705

Likely pathogenic

Bailey-Bloch congenital myopathy

Criteria Provided
Single Submitter

rs_780801708

1 SubmittersRCV001824231

NM_000540.3(RYR1):c.14130-2A>G

SNV
Germline

Chr19:38575917

Conflicting classifications of pathogenicity

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_1457662393

4 SubmittersRCV001941795 RCV002497871 RCV003325593 RCV004010985

NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser)

SNV
Germline

Chr1:201040302

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

rs_200434921

3 SubmittersRCV002038246 RCV002486665 RCV003453957 RCV003456271 RCV003456272 RCV003458818

NM_001378030.1(CCDC78):c.692G>T (p.Arg231Leu)

SNV
Germline

Chr16:724754

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_147504073

2 SubmittersRCV001893529 RCV003326593

NM_001100.4(ACTA1):c.124C>T (p.His42Tyr)

SNV
Germline

Chr1:229432992

Pathogenic

Actin accumulation myopathy
Congenital myopathy 2c, severe infantile, autosomal dominant

Criteria Provided
Single Submitter

rs_2102736554

2 SubmittersRCV002000054 RCV003228037

NM_152263.4(TPM3):c.44A>T (p.Asp15Val)

SNV
Germline

Chr1:154191975

Likely pathogenic

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive

Criteria Provided
Single Submitter

rs_2148295444

1 SubmittersRCV002014040

NM_000069.3(CACNA1S):c.3053+19C>G

SNV
Germline

Chr1:201061925

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

rs_372276351

3 SubmittersRCV001909627 RCV002503570 RCV003446948 RCV003446949 RCV003446950 RCV003446947

NM_001378030.1(CCDC78):c.893G>C (p.Ser298Thr)

SNV
Germline

Chr16:724382

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_770130604

2 SubmittersRCV001896225 RCV004041456

NM_152263.4(TPM3):c.271C>G (p.Arg91Gly)

SNV
Germline

Chr1:154176221

Likely pathogenic

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive

Criteria Provided
Single Submitter

rs_1571418855

1 SubmittersRCV002007718

NM_152263.4(TPM3):c.118-12G>A

SNV
Germline

Chr1:154191323

Pathogenic/Likely pathogenic

Congenital myopathy with fiber type disproportion

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002285529

NM_001378030.1(CCDC78):c.28A>G (p.Arg10Gly)

SNV
Germline

Chr16:726340

Conflicting classifications of pathogenicity

Congenital myopathy with internal nuclei and atypical cores
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_769964986

2 SubmittersRCV002108665 RCV004046471

NM_014241.4(HACD1):c.458G>A (p.Trp153Ter)

SNV
Germline

Chr10:17603585

Pathogenic

Congenital myopathy 11

No Assertion Criteria Provided

1 SubmittersRCV002271331

NM_014241.4(HACD1):c.785-1G>T

SNV
Germline

Chr10:17590447

Pathogenic

Congenital myopathy 11

No Assertion Criteria Provided

1 SubmittersRCV002271332

NM_003279.3(TNNC2):c.100G>T (p.Asp34Tyr)

SNV
Germline

Chr20:45824594

Pathogenic

Congenital myopathy 15

No Assertion Criteria Provided

1 SubmittersRCV002472359

NM_003279.3(TNNC2):c.237G>C (p.Met79Ile)

SNV
Germline

Chr20:45824369

Pathogenic

Congenital myopathy 15

No Assertion Criteria Provided

1 SubmittersRCV002472360

NM_152263.4(TPM3):c.272G>A (p.Arg91His)

SNV
Germline

Chr1:154176220

Likely pathogenic

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive

Criteria Provided
Single Submitter

1 SubmittersRCV003058660

NM_152263.4(TPM3):c.642+2T>C

SNV
Germline

Chr1:154171411

Conflicting classifications of pathogenicity

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002581536 RCV003138517

NM_145064.3(STAC3):c.670+2T>A

SNV
Germline

Chr12:57245143

Likely pathogenic

Bailey-Bloch congenital myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV002944314

NM_001843.4(CNTN1):c.268C>T (p.Arg90Ter)

SNV
Germline

Chr12:40922296

Pathogenic

Compton-North congenital myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003051748

NM_000069.3(CACNA1S):c.2224C>T (p.Pro742Ser)

SNV
Germline

Chr1:201072758

Pathogenic

Condition: not provided
Congenital myopathy 18

Criteria Provided
Single Submitter

2 SubmittersRCV003120264 RCV003222483

NM_152263.4(TPM3):c.535C>T (p.Arg179Cys)

SNV
Germline

Chr1:154172939

Likely pathogenic

Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

1 SubmittersRCV003142465

NM_001100.4(ACTA1):c.863A>G (p.Asp288Gly)

SNV
Germline

Chr1:229431848

Pathogenic

Congenital myopathy 2c, severe infantile, autosomal dominant

No Assertion Criteria Provided

1 SubmittersRCV003152501

NM_001100.4(ACTA1):c.121C>T (p.Arg41Ter)

SNV
Germline

Chr1:229432995

Pathogenic

Congenital myopathy 2b, severe infantile, autosomal recessive

No Assertion Criteria Provided

1 SubmittersRCV003152503

NM_001100.4(ACTA1):c.809-1G>T

SNV
Germline

Chr1:229431903

Pathogenic

Congenital myopathy 2b, severe infantile, autosomal recessive

No Assertion Criteria Provided

1 SubmittersRCV003152505

NM_000069.3(CACNA1S):c.4453C>T (p.Gln1485Ter)

SNV
Germline

Chr1:201047615

Pathogenic

Congenital myopathy 18

No Assertion Criteria Provided

1 SubmittersRCV003152509

NM_000069.3(CACNA1S):c.2225C>A (p.Pro742Gln)

SNV
Germline

Chr1:201072757

Pathogenic

Congenital myopathy 18

No Assertion Criteria Provided

1 SubmittersRCV003152512

NM_001256545.2(MEGF10):c.2981-2A>G

SNV
Germline

Chr5:127454564

Pathogenic

Congenital myopathy 10b, mild variant

No Assertion Criteria Provided

1 SubmittersRCV003152534

NM_001256545.2(MEGF10):c.2429G>A (p.Cys810Tyr)

SNV
Germline

Chr5:127443064

Pathogenic

Congenital myopathy 10b, mild variant

No Assertion Criteria Provided

1 SubmittersRCV003152537

NM_001256545.2(MEGF10):c.352T>C (p.Cys118Arg)

SNV
Germline

Chr5:127369942

Pathogenic

Congenital myopathy 10b, mild variant

No Assertion Criteria Provided

1 SubmittersRCV003152538

NM_001256545.2(MEGF10):c.1426+1G>T

SNV
Germline

Chr5:127419241

Pathogenic

Congenital myopathy 10b, mild variant

No Assertion Criteria Provided

1 SubmittersRCV003152539

NM_001256545.2(MEGF10):c.2096G>C (p.Cys699Ser)

SNV
Germline

Chr5:127435481

Likely pathogenic

Congenital myopathy 10b, mild variant
MEGF10-related myopathy

Criteria Provided
Single Submitter

2 SubmittersRCV003152540 RCV003336823

NM_152263.4(TPM3):c.445C>A (p.Leu149Ile)

SNV
Germline

Chr1:154173134

Pathogenic

Congenital myopathy 4A, autosomal dominant

No Assertion Criteria Provided

1 SubmittersRCV003152550

NM_007034.5(DNAJB4):c.856A>T (p.Lys286Ter)

SNV
Germline

Chr1:78016089

Pathogenic

Congenital myopathy 21 with early respiratory failure

No Assertion Criteria Provided

1 SubmittersRCV003223360

NM_007034.5(DNAJB4):c.785T>C (p.Leu262Ser)

SNV
Germline

Chr1:78016018

Pathogenic

Congenital myopathy 21 with early respiratory failure

No Assertion Criteria Provided

1 SubmittersRCV003223361

NM_007034.5(DNAJB4):c.74G>A (p.Arg25Gln)

SNV
Germline

Chr1:78005184

Pathogenic

Congenital myopathy 21 with early respiratory failure

No Assertion Criteria Provided

1 SubmittersRCV003223362

NM_007034.5(DNAJB4):c.181A>G (p.Arg61Gly)

SNV
Germline

Chr1:78005291

Pathogenic

Congenital myopathy 21 with early respiratory failure

No Assertion Criteria Provided

1 SubmittersRCV003223363

NM_000334.4(SCN4A):c.3626G>T (p.Cys1209Phe)

SNV
Germline

Chr17:63945454

Pathogenic

Congenital myopathy 22A, classic

No Assertion Criteria Provided

1 SubmittersRCV003227546

NM_000334.4(SCN4A):c.1144C>A (p.Pro382Thr)

SNV
Germline

Chr17:63966200

Pathogenic

Congenital myopathy 22B, severe fetal

No Assertion Criteria Provided

1 SubmittersRCV003227547

NM_000334.4(SCN4A):c.4779C>A (p.Tyr1593Ter)

SNV
Germline

Chr17:63941503

Pathogenic

Congenital myopathy 22B, severe fetal

No Assertion Criteria Provided

1 SubmittersRCV003227549

NM_000334.4(SCN4A):c.1123T>C (p.Cys375Arg)

SNV
Germline

Chr17:63966221

Pathogenic

Congenital myopathy 22A, classic

No Assertion Criteria Provided

1 SubmittersRCV003227550

NM_000334.4(SCN4A):c.4340T>C (p.Phe1447Ser)

SNV
Germline

Chr17:63941942

Likely pathogenic

Congenital myopathy 22B, severe fetal

Criteria Provided
Single Submitter

1 SubmittersRCV003315479

NM_000334.4(SCN4A):c.3798G>C (p.Glu1266Asp)

SNV
Germline

Chr17:63944787

Likely pathogenic

Congenital myopathy 22B, severe fetal

Criteria Provided
Single Submitter

1 SubmittersRCV003315480

NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr)

SNV
Unknown

Chr1:229431831

Conflicting classifications of pathogenicity

Congenital myopathy with fiber type disproportion
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

1 SubmittersRCV003333906 RCV003333907

NM_001100.4(ACTA1):c.766C>G (p.Arg256Gly)

SNV
Germline

Chr1:229432036

Likely pathogenic

Congenital myopathy
Primary dilated cardiomyopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003333909 RCV003333908

NM_001100.4(ACTA1):c.925C>T (p.Pro309Ser)

SNV
Germline

Chr1:229431786

Likely pathogenic

Congenital myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003333919

NM_001100.4(ACTA1):c.143G>C (p.Gly48Ala)

SNV
Germline

Chr1:229432867

Likely pathogenic

Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

1 SubmittersRCV003333931

NM_001100.4(ACTA1):c.772C>G (p.Arg258Gly)

SNV
Unknown

Chr1:229432030

Likely pathogenic

Nemaline myopathy
Congenital myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003333942 RCV003333943

NM_006828.4(ASCC3):c.2554C>T (p.Arg852Ter)

SNV
Germline

Chr6:100661955

Likely pathogenic

Congenital myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003447798

NM_001843.4(CNTN1):c.94+2T>C

SNV
Germline

Chr12:40910107

Likely pathogenic

Compton-North congenital myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003623600

NM_001843.4(CNTN1):c.704-1G>A

SNV
Germline

Chr12:40933460

Likely pathogenic

Compton-North congenital myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003623750

NM_001843.4(CNTN1):c.1711C>T (p.Arg571Ter)

SNV
Germline

Chr12:40959141

Pathogenic

Compton-North congenital myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003622204

NM_152263.4(TPM3):c.452A>C (p.Glu151Ala)

SNV
Germline

Chr1:154173127

Pathogenic

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive

Criteria Provided
Single Submitter

1 SubmittersRCV003780948

NM_152263.4(TPM3):c.243+1G>A

SNV
Germline

Chr1:154191185

Likely pathogenic

Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion

Criteria Provided
Single Submitter

1 SubmittersRCV003792009

NM_152263.4(TPM3):c.137C>T (p.Ala46Val)

SNV
Germline

Chr1:154191292

Likely pathogenic

Congenital myopathy with fiber type disproportion
Congenital myopathy 4B, autosomal recessive

Criteria Provided
Single Submitter

1 SubmittersRCV003802400

NM_001843.4(CNTN1):c.739C>T (p.Gln247Ter)

SNV
Germline

Chr12:40933496

Pathogenic

Compton-North congenital myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003859142