Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	SNV Germline	Chr14:23424059	Pathogenic/Likely pathogenic	Hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy Condition: not provided 6 conditions MYH7-related disorder Cardiovascular phenotype Cardiomyopathy Left ventricular noncompaction cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA013034	rs_121913628	16 SubmittersRCV000015148 RCV000197762 RCV000158573 RCV000762922 RCV004532357 RCV000252292 RCV000770489 RCV002054441
NM_000257.4(MYH7):c.732+1G>A	SNV Germline	Chr14:23431584	Pathogenic/Likely pathogenic	Left ventricular noncompaction 5 Hypertrophic cardiomyopathy Condition: not provided Left ventricular noncompaction cardiomyopathy Left ventricular noncompaction Cardiovascular phenotype Hypertrophic cardiomyopathy 1 Dilated cardiomyopathy 1S	Criteria Provided Multiple Submitters No Conflicts		rs_730880850	11 SubmittersRCV000015188 RCV000477002 RCV000158758 RCV001256089 RCV000214568 RCV003298034 RCV001542486 RCV004799177
NM_007078.3(LDB3):c.690-4A>G	SNV Germline	Chr10:86691892	Conflicting classifications of pathogenicity	Cardiomyopathy not specified Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Myofibrillar Myopathy, Dominant Myofibrillar myopathy 4 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA180818	rs_45529531	17 SubmittersRCV000030120 RCV000154455 RCV000288174 RCV000347861 RCV000393351 RCV000405139 RCV000619569 RCV001529636
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)	SNV Germline	Chr11:47341223	Conflicting classifications of pathogenicity	not specified Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Cardiovascular phenotype Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA011214	rs_397515929	11 SubmittersRCV000035438 RCV000299218 RCV000264440 RCV000356394 RCV000618801 RCV000771259 RCV001727519
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)	SNV Germline	Chr11:47350048	Conflicting classifications of pathogenicity	not specified Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA015191	rs_150291001	14 SubmittersRCV000035632 RCV000282724 RCV000338909 RCV000378313 RCV000621509 RCV000769362 RCV000858618
NM_000257.4(MYH7):c.1191G>A (p.Lys397=)	SNV Germline	Chr14:23429295	Conflicting classifications of pathogenicity	not specified MYH7-related skeletal myopathy Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy 1 Cardiovascular phenotype Condition: not provided Cardiomyopathy Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA010337	rs_139506719	10 SubmittersRCV000035705 RCV000297044 RCV000347165 RCV000312213 RCV000398355 RCV000584781 RCV000618918 RCV000725616 RCV000772167 RCV003320045
NM_000257.4(MYH7):c.1755C>A (p.Ile585=)	SNV Germline	Chr14:23427718	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 Dilated Cardiomyopathy, Dominant Condition: not provided Cardiovascular phenotype Cardiomyopathy Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA011195	rs_201860580	11 SubmittersRCV000035745 RCV000280479 RCV000341444 RCV000376055 RCV001094219 RCV000399496 RCV001532237 RCV000621588 RCV000777768 RCV003320047
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)	SNV Germline	Chr14:23417668	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Cardiovascular phenotype Hypertrophic cardiomyopathy 1 Cardiomyopathy Condition: not provided Myosin storage myopathy MYH7-related disorder	Criteria Provided Conflicting Classifications	CA014595	rs_200852418	15 SubmittersRCV000035889 RCV000199253 RCV000294195 RCV000352693 RCV000388586 RCV000619667 RCV001094205 RCV001190176 RCV001528229 RCV003320073 RCV004534746
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)	SNV Germline	Chr14:23417563	Conflicting classifications of pathogenicity	not specified Left ventricular noncompaction cardiomyopathy MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Cardiomyopathy Condition: not provided Hypertrophic cardiomyopathy 1 Cardiovascular phenotype Myosin storage myopathy MYH7-related disorder	Criteria Provided Conflicting Classifications	CA014782	rs_45560242	8 SubmittersRCV000035901 RCV000300774 RCV000260672 RCV000350069 RCV000355576 RCV000777759 RCV000868550 RCV001094104 RCV002326729 RCV003320076 RCV004534748
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)	SNV Germline	Chr14:23415153	Likely pathogenic	MYH7-related skeletal myopathy Condition: not provided Primary dilated cardiomyopathy Neuromuscular disease Left ventricular noncompaction cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy Myosin storage myopathy	Reviewed By Expert Panel	CA016087	rs_397516248	9 SubmittersRCV000132759 RCV000158700 RCV000211834 RCV000207999 RCV000487436 RCV000699484 RCV003320085
NM_000257.4(MYH7):c.5499C>T (p.Asn1833=)	SNV Germline	Chr14:23415055	Conflicting classifications of pathogenicity	not specified Left ventricular noncompaction cardiomyopathy MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy 1 Cardiomyopathy Condition: not provided Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA016148	rs_3729831	8 SubmittersRCV000035967 RCV000278217 RCV000335514 RCV000348305 RCV000404590 RCV000620704 RCV001094079 RCV001190870 RCV001719729 RCV003320086
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=)	SNV Germline	Chr14:23413831	Conflicting classifications of pathogenicity	not specified Dilated Cardiomyopathy, Dominant MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 Myosin storage myopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Cardiovascular phenotype Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA016408	rs_45523233	9 SubmittersRCV000035979 RCV000361493 RCV000304407 RCV001094150 RCV003320089 RCV000355690 RCV000402870 RCV002345284 RCV001190172 RCV003421946
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn)	SNV Germline	Chr19:55154151	Conflicting classifications of pathogenicity	Condition: not provided Hypertrophic cardiomyopathy Cardiomyopathy Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA021641	rs_397516348	9 SubmittersRCV000159221 RCV000628944 RCV001192353 RCV002054586 RCV004018790
NM_001368067.1(LDB3):c.456G>T (p.Ala152=)	SNV Germline	Chr10:86687180	Conflicting classifications of pathogenicity	not specified Myofibrillar Myopathy, Dominant Dilated Cardiomyopathy, Dominant Myofibrillar myopathy 4 Left ventricular noncompaction cardiomyopathy	Criteria Provided Conflicting Classifications	CA133078	rs_371708921	2 SubmittersRCV000036846 RCV000282359 RCV000334935 RCV000350220 RCV000374491
NM_001368067.1(LDB3):c.546T>C (p.Ser182=)	SNV Germline	Chr10:86687270	Conflicting classifications of pathogenicity	not specified Myofibrillar myopathy 4 Myofibrillar Myopathy, Dominant Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Dilated cardiomyopathy 1C Condition: not provided	Criteria Provided Conflicting Classifications	CA133084	rs_71473272	14 SubmittersRCV000036849 RCV000273098 RCV000307366 RCV000303793 RCV000365510 RCV000618735 RCV001293331 RCV001530015
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)	SNV Germline	Chr6:7580562	Conflicting classifications of pathogenicity	not specified Left ventricular noncompaction cardiomyopathy Familial isolated arrhythmogenic right ventricular dysplasia Arrhythmogenic right ventricular cardiomyopathy Condition: not provided Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Cardiovascular phenotype Cardiomyopathy Primary familial dilated cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 DSP-related disorder Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004444	rs_28763965	25 SubmittersRCV000038041 RCV000157197 RCV000148477 RCV000238741 RCV000172538 RCV000368914 RCV000397854 RCV000622004 RCV000771820 RCV000845543 RCV001095209 RCV001085365 RCV003904925 RCV003993759
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)	SNV Germline	Chr17:41755775	Conflicting classifications of pathogenicity	not specified Left ventricular noncompaction cardiomyopathy Naxos disease Arrhythmogenic right ventricular dysplasia 12 Cardiovascular phenotype Condition: not provided Naxos disease Arrhythmogenic right ventricular dysplasia 12	Criteria Provided Conflicting Classifications	CA137193	rs_151178348	11 SubmittersRCV000039078 RCV000157253 RCV000463617 RCV000621167 RCV000757414 RCV001123480 RCV001124559
NM_001267550.2(TTN):c.17183-7C>T	SNV Germline	Chr2:178731590	Conflicting classifications of pathogenicity	not specified Left ventricular noncompaction cardiomyopathy Early-onset myopathy with fatal cardiomyopathy Myopathy, myofibrillar, 9, with early respiratory failure Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA138786	rs_371785683	9 SubmittersRCV000039892 RCV000157571 RCV000285166 RCV000324946 RCV000381839 RCV000471462 RCV000272411 RCV000342528 RCV001170647 RCV001815173
NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter)	SNV Germline	Chr1:3412301	Pathogenic	Left ventricular noncompaction 8 Left ventricular noncompaction cardiomyopathy	Criteria Provided Single Submitter	CA144642	rs_397514742	2 SubmittersRCV000054518 RCV002054880
NM_000257.4(MYH7):c.847T>G (p.Tyr283Asp)	SNV Germline	Chr14:23430949	Likely pathogenic	Left ventricular noncompaction 5 Left ventricular noncompaction cardiomyopathy	Criteria Provided Single Submitter	CA016893	rs_397515482	2 SubmittersRCV000056316 RCV002054899
NM_004006.3(DMD):c.1337A>G (p.His446Arg)	SNV Germline	ChrX:32614448	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Duchenne muscular dystrophy Dilated cardiomyopathy 3B Condition: not provided Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy Dystrophin deficiency DMD-related disorder	Criteria Provided Conflicting Classifications	CA285523	rs_72468699	7 SubmittersRCV000157166 RCV000157165 RCV000243647 RCV000869409 RCV001168118 RCV001719836 RCV001835674 RCV004542772
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)	SNV Germline	Chr14:23428505	Pathogenic/Likely pathogenic	Familial cardiomyopathy Left ventricular noncompaction cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy Condition: not provided Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 1 Myopathy, myosin storage, autosomal recessive Myosin storage myopathy Dilated cardiomyopathy 1S MYH7-related skeletal myopathy	Criteria Provided Multiple Submitters No Conflicts	CA010981	rs_606231324	10 SubmittersRCV000148974 RCV000157356 RCV000578453 RCV000466357 RCV000786168 RCV001281475 RCV003883132
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=)	SNV Germline	Chr14:23419950	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant MYH7-related skeletal myopathy Left ventricular noncompaction cardiomyopathy Cardiomyopathy Hypertrophic cardiomyopathy 1 Cardiovascular phenotype Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA013881	rs_529700838	7 SubmittersRCV000126995 RCV000233427 RCV000265099 RCV000301315 RCV000353951 RCV000771155 RCV001094107 RCV002453454 RCV003320100
NM_000257.4(MYH7):c.860A>G (p.Tyr287Cys)	SNV Germline	Chr14:23430936	Likely pathogenic	Left ventricular noncompaction cardiomyopathy	No Assertion Criteria Provided	CA016907	rs_587782961	1 SubmittersRCV000143920
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)	SNV Germline	Chr11:47332244	Pathogenic/Likely pathogenic	Condition: not provided Hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy Cardiovascular phenotype Left ventricular noncompaction 10 Hypertrophic cardiomyopathy 4 Cardiomyopathy Primary dilated cardiomyopathy Left ventricular noncompaction cardiomyopathy MYBPC3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA014549	rs_368765949	11 SubmittersRCV000158241 RCV000201437 RCV000206843 RCV002453476 RCV002478419 RCV001179298 RCV001263457 RCV004551299
NM_001927.4(DES):c.635G>A (p.Arg212Gln)	SNV Germline	Chr2:219420151	Conflicting classifications of pathogenicity	not specified Left ventricular noncompaction cardiomyopathy Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I Neurogenic scapuloperoneal syndrome, Kaeser type Myofibrillar Myopathy, Dominant Condition: not provided See cases Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA181189	rs_144261171	13 SubmittersRCV000154696 RCV000157163 RCV000229797 RCV000307432 RCV000393436 RCV000406154 RCV000725364 RCV001264391 RCV001798502 RCV002362812
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu)	SNV Germline	Chr11:47349871	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy Cardiomyopathy Primary dilated cardiomyopathy Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Condition: not provided Hypertrophic cardiomyopathy 4	Criteria Provided Conflicting Classifications	CA015477	rs_727503216	11 SubmittersRCV000801763 RCV000777987 RCV001263458 RCV002345464 RCV000766311 RCV004786404
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)	SNV Germline	Chr11:47351457	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy Cardiomyopathy Cardiovascular phenotype Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Condition: not provided Left ventricular noncompaction 10 Hypertrophic cardiomyopathy 4	Criteria Provided Conflicting Classifications	CA015780	rs_371140684	10 SubmittersRCV000151173 RCV000314127 RCV001170432 RCV002390324 RCV000350432 RCV000402678 RCV003129791 RCV003224173
NM_001368067.1(LDB3):c.456G>A (p.Ala152=)	SNV Germline	Chr10:86687180	Conflicting classifications of pathogenicity	not specified Myofibrillar myopathy 4 Myofibrillar Myopathy, Dominant Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Dilated cardiomyopathy 1C LDB3-related disorder	Criteria Provided Conflicting Classifications	CA183520	rs_371708921	5 SubmittersRCV000155799 RCV000270042 RCV000292985 RCV000332141 RCV000389071 RCV001293330 RCV003945239
NM_002471.4(MYH6):c.831G>T (p.Gln277His)	SNV Germline	Chr14:23403415	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Brugada syndrome Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 Cardiovascular phenotype Long QT syndrome Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA181127	rs_140660481	13 SubmittersRCV000154662 RCV000172034 RCV000769431 RCV000999591 RCV001083211 RCV001256735 RCV002408687 RCV003318356 RCV004765314
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)	SNV Germline	Chr14:23422190	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Dilated cardiomyopathy 1S Primary familial hypertrophic cardiomyopathy not specified Hypertrophic cardiomyopathy Condition: not provided Myosin storage myopathy Cardiomyopathy Hypertrophic cardiomyopathy 1 MYH7-related skeletal myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA013466	rs_192722540	10 SubmittersRCV000269104 RCV000277463 RCV000627137 RCV000151250 RCV000326571 RCV001704089 RCV003320107 RCV000777762 RCV001094089 RCV000365939 RCV002444618
NM_001035.3(RYR2):c.14565T>G (p.Ile4855Met)	SNV Germline	Chr1:237819167	Likely pathogenic	Left ventricular noncompaction cardiomyopathy	Criteria Provided Single Submitter	CA008301	rs_730880199	1 SubmittersRCV000157468
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn)	SNV Germline	Chr6:7580847	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy not specified Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA004136	rs_730880084	6 SubmittersRCV000157199 RCV000215613 RCV000777708 RCV001308830 RCV003998332 RCV003372622
NM_004415.4(DSP):c.4915G>A (p.Val1639Met)	SNV Germline	Chr6:7581105	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA004201	rs_539587517	5 SubmittersRCV000157201 RCV000797000 RCV001184780 RCV002272145 RCV002336341
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile)	SNV Germline	Chr11:47341230	Conflicting classifications of pathogenicity	Condition: not provided Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA011188	rs_730880551	5 SubmittersRCV000158117 RCV000853169 RCV002408712 RCV002516378
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His)	SNV Germline	Chr11:47348487	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hypertrophic cardiomyopathy Cardiomyopathy Left ventricular noncompaction cardiomyopathy MYBPC3-related disorder	Criteria Provided Conflicting Classifications	CA015732	rs_730880624	8 SubmittersRCV000158306 RCV000621974 RCV001208477 RCV001798531 RCV002053907 RCV004551359
NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val)	SNV Germline	Chr11:47350576	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Cardiomyopathy Condition: not provided Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA013936	rs_730880530	6 SubmittersRCV000280240 RCV001525480 RCV002281062 RCV000335325 RCV000374801 RCV002321659
NM_000257.4(MYH7):c.2526T>C (p.Ser842=)	SNV Germline	Chr14:23424922	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype MYH7-related skeletal myopathy Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Cardiomyopathy Hypertrophic cardiomyopathy 1 Condition: not provided Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA012544	rs_554560162	9 SubmittersRCV000158491 RCV000241722 RCV000287734 RCV000382086 RCV000389957 RCV000294051 RCV000777730 RCV001094114 RCV001706061 RCV003320117
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro)	SNV Germline	Chr6:7581151	Conflicting classifications of pathogenicity	not specified Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy Left ventricular noncompaction cardiomyopathy Condition: not provided Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004217	rs_749730642	9 SubmittersRCV000219274 RCV000457559 RCV000771384 RCV000853137 RCV001537824 RCV002345629 RCV003996651
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)	SNV Germline	Chr6:7583659	Conflicting classifications of pathogenicity	not specified Left ventricular noncompaction cardiomyopathy Condition: not provided Cardiomyopathy Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Cardiovascular phenotype 6 conditions	Criteria Provided Conflicting Classifications	CA006920	rs_372393122	11 SubmittersRCV000181340 RCV000678705 RCV000766888 RCV001179588 RCV001227095 RCV002354472 RCV002485191
NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter)	SNV Germline	Chr2:178594134	Likely pathogenic	Left ventricular noncompaction cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J	Criteria Provided Multiple Submitters No Conflicts	CA351816	rs_869025544	2 SubmittersRCV000208156 RCV001046289
NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=)	SNV Germline	Chr6:112154945	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Dilated cardiomyopathy 1JJ	Criteria Provided Conflicting Classifications	CA069479	rs_140246538	4 SubmittersRCV000208210 RCV000620908 RCV001484119
NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys)	SNV Germline	Chr6:7580998	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA351759	rs_869025393	4 SubmittersRCV000208078 RCV001347430 RCV002336577 RCV003997680
NM_000257.4(MYH7):c.733-3C>T	SNV Germline	Chr14:23431484	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy MYH7-related skeletal myopathy Left ventricular noncompaction cardiomyopathy Scapuloperoneal myopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Cardiomyopathy Cardiovascular phenotype Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA048995	rs_765068619	7 SubmittersRCV000208437 RCV000281328 RCV000336260 RCV000372281 RCV000296529 RCV000375775 RCV001179548 RCV002381715 RCV003320139
NM_004006.3(DMD):c.8851C>T (p.Arg2951Cys)	SNV Germline	ChrX:31478192	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Condition: not provided Cardiovascular phenotype Duchenne muscular dystrophy	Criteria Provided Conflicting Classifications	CA070630	rs_760516307	4 SubmittersRCV000208509 RCV000315245 RCV002444834 RCV002517392
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)	SNV Germline	Chr2:178587708	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype 6 conditions Dilated cardiomyopathy 1G	Criteria Provided Multiple Submitters No Conflicts	CA130338	rs_764243269	10 SubmittersRCV000209814 RCV000786239 RCV001239700 RCV001798696 RCV002057055 RCV002453754 RCV002503827 RCV004764919
NM_007078.3(LDB3):c.689+3861C>T	SNV Germline	Chr10:86685664	Conflicting classifications of pathogenicity	not specified Dilated Cardiomyopathy, Dominant Myofibrillar myopathy 4 Left ventricular noncompaction cardiomyopathy Myofibrillar Myopathy, Dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA5584773	rs_754704023	6 SubmittersRCV000219436 RCV000267983 RCV000298515 RCV000301609 RCV000360274 RCV001529058
NC_000011.10:g.47333340G>A	SNV Germline	Chr11:47333340	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA10631009	rs_373012629	6 SubmittersRCV000292654 RCV000349979 RCV000403432 RCV001187916 RCV002225581
NC_000011.10:g.47346380G>A	SNV Germline	Chr11:47346380	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA10631017	rs_201078659	6 SubmittersRCV000305886 RCV000360595 RCV000396667 RCV001176816 RCV001711908
NM_007078.3(LDB3):c.690-4617G>A	SNV Germline	Chr10:86687279	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Myofibrillar myopathy 4 Myofibrillar Myopathy, Dominant Dilated Cardiomyopathy, Dominant not specified	Criteria Provided Conflicting Classifications	CA5584842	rs_754174632	3 SubmittersRCV000287151 RCV000322767 RCV000342117 RCV000379731 RCV000600251
NM_007078.3(LDB3):c.723C>T (p.Ser241=)	SNV Germline	Chr10:86691929	Conflicting classifications of pathogenicity	Myofibrillar myopathy 4 Dilated cardiomyopathy 1C Left ventricular noncompaction cardiomyopathy Myofibrillar Myopathy, Dominant Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5584882	rs_200580597	4 SubmittersRCV000312674 RCV000313701 RCV000367463 RCV000393350 RCV001683214 RCV002374514
NM_000257.4(MYH7):c.*105T>C	SNV Germline	Chr14:23412749	Conflicting classifications of pathogenicity	Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy MYH7-related skeletal myopathy Scapuloperoneal myopathy Hypertrophic cardiomyopathy Condition: not provided Myosin storage myopathy Hypertrophic cardiomyopathy 1	Criteria Provided Conflicting Classifications	CA10634744	rs_200550717	2 SubmittersRCV000360393 RCV000303437 RCV000366623 RCV000316393 RCV000394482 RCV001690036 RCV003320149 RCV001112122
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)	SNV Germline	Chr14:23416049	Conflicting classifications of pathogenicity	MYH7-related skeletal myopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Cardiomyopathy Hypertrophic cardiomyopathy 1 Condition: not provided Myosin storage myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA044195	rs_150241539	10 SubmittersRCV000295116 RCV000289294 RCV000346623 RCV000386925 RCV000769442 RCV001094082 RCV001530148 RCV003320154 RCV004021581
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=)	SNV Germline	Chr14:23417262	Conflicting classifications of pathogenicity	MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy not specified Hypertrophic cardiomyopathy 1 Condition: not provided Cardiomyopathy Cardiovascular phenotype Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA042203	rs_578166720	7 SubmittersRCV000262797 RCV000318017 RCV000324167 RCV000372701 RCV000441186 RCV001094204 RCV001172071 RCV001189184 RCV002328825 RCV003320157
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)	SNV Germline	Chr14:23418221	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Scapuloperoneal myopathy Hypertrophic cardiomyopathy Cardiovascular phenotype Cardiomyopathy Condition: not provided Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA10634753	rs_886050418	6 SubmittersRCV000266219 RCV000271995 RCV000302577 RCV000360417 RCV000366572 RCV000622162 RCV001184782 RCV001660631 RCV003320159
NM_000257.4(MYH7):c.3148C>A (p.Arg1050=)	SNV Germline	Chr14:23422277	Conflicting classifications of pathogenicity	MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy 1 Left ventricular noncompaction cardiomyopathy Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA035886	rs_730880767	1 SubmittersRCV000306255 RCV000302884 RCV000392947 RCV000363509 RCV003320162
NM_000257.4(MYH7):c.2692C>T (p.Leu898=)	SNV Germline	Chr14:23424137	Conflicting classifications of pathogenicity	MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy not specified Cardiomyopathy Hypertrophic cardiomyopathy Myosin storage myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA034075	rs_727504407	6 SubmittersRCV000261564 RCV000315717 RCV000321468 RCV000374938 RCV000602384 RCV001524259 RCV001485546 RCV003320169 RCV003165841
NM_007078.3(LDB3):c.-23-32C>A	SNV Germline	Chr10:86668637	Conflicting classifications of pathogenicity	Myofibrillar myopathy 4 Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Myofibrillar Myopathy, Dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA10636681	rs_34972863	3 SubmittersRCV000260607 RCV000322842 RCV000353070 RCV000379799 RCV002262952
NM_007078.3(LDB3):c.897-6834C>T	SNV Germline	Chr10:86699697	Conflicting classifications of pathogenicity	Myofibrillar Myopathy, Dominant Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Condition: not provided Myofibrillar myopathy 4	Criteria Provided Conflicting Classifications	CA10636699	rs_185972751	2 SubmittersRCV000357141 RCV000297716 RCV000303374 RCV003422226 RCV000396876
NM_007078.3(LDB3):c.897-6707G>A	SNV Germline	Chr10:86699824	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1C Left ventricular noncompaction cardiomyopathy Myofibrillar Myopathy, Dominant Myofibrillar myopathy 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10636701	rs_537660741	2 SubmittersRCV000269632 RCV000275628 RCV000329332 RCV000383848 RCV003422227
NM_000256.3(MYBPC3):c.1553T>C (p.Met518Thr)	SNV Germline	Chr11:47342649	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10638733	rs_886048378	3 SubmittersRCV000294153 RCV000347820 RCV000386120 RCV004649123
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=)	SNV Germline	Chr11:47346241	Conflicting classifications of pathogenicity	Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Cardiomyopathy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA042179	rs_375007425	6 SubmittersRCV000263851 RCV000318985 RCV000373599 RCV001525475 RCV003298366 RCV003993925
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=)	SNV Germline	Chr14:23415160	Conflicting classifications of pathogenicity	Dilated Cardiomyopathy, Dominant MYH7-related skeletal myopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 Cardiomyopathy Myosin storage myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA046635	rs_777053791	5 SubmittersRCV000324458 RCV000266902 RCV000279954 RCV000372082 RCV001094139 RCV000777685 RCV003320151 RCV002348050
NM_000257.4(MYH7):c.2922+6G>C	SNV Germline	Chr14:23423901	Conflicting classifications of pathogenicity	MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Scapuloperoneal myopathy Hypertrophic cardiomyopathy Cardiomyopathy Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA034769	rs_781192476	4 SubmittersRCV000269967 RCV000271056 RCV000306306 RCV000330994 RCV000365611 RCV001187910 RCV003320167
NM_000257.4(MYH7):c.2028T>C (p.Asn676=)	SNV Germline	Chr14:23426793	Conflicting classifications of pathogenicity	Dilated Cardiomyopathy, Dominant MYH7-related skeletal myopathy Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Cardiomyopathy Hypertrophic cardiomyopathy 1 Cardiovascular phenotype Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA030827	rs_145564868	5 SubmittersRCV000350729 RCV000295852 RCV000330769 RCV000385345 RCV001180600 RCV001094120 RCV002418165 RCV003320170
NM_000257.4(MYH7):c.1179C>T (p.Ala393=)	SNV Germline	Chr14:23429307	Conflicting classifications of pathogenicity	MYH7-related skeletal myopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Cardiomyopathy Myosin storage myopathy Hypertrophic cardiomyopathy 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA027786	rs_143293426	7 SubmittersRCV000261870 RCV000354294 RCV000324562 RCV000302404 RCV001188872 RCV003320173 RCV001094225 RCV001705468 RCV002338897
NM_000257.4(MYH7):c.1000-13G>T	SNV Germline	Chr14:23429926	Conflicting classifications of pathogenicity	MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 Left ventricular noncompaction cardiomyopathy Dilated cardiomyopathy 1S Myosin storage myopathy Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA027362	rs_772831757	2 SubmittersRCV000314183 RCV000345388 RCV000400365 RCV000383584 RCV003320176 RCV001859876
NM_000257.4(MYH7):c.-62C>T	SNV Germline	Chr14:23434247	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy 1 Myosin storage myopathy Condition: not provided Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA10639982	rs_45566639	3 SubmittersRCV000294289 RCV000290818 RCV000385187 RCV000345860 RCV003320182 RCV001597070 RCV001516184
NM_001386795.1(DTNA):c.54G>A (p.Leu18=)	SNV Germline	Chr18:34756030	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Left ventricular noncompaction 1	Criteria Provided Conflicting Classifications	CA8935252	rs_754265551	2 SubmittersRCV000296448 RCV001462545
NM_000257.4(MYH7):c.4659C>T (p.His1553=)	SNV Germline	Chr14:23416298	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy not specified Cardiomyopathy Condition: not provided Cardiovascular phenotype Hypertrophic cardiomyopathy 1 Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA043411	rs_570079347	8 SubmittersRCV000285796 RCV000334901 RCV000340776 RCV000391904 RCV000428502 RCV001170989 RCV000861726 RCV002338896 RCV001094083 RCV003320156
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp)	SNV Germline	Chr14:23423611	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 Condition: not provided Cardiomyopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy Cardiovascular phenotype Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA035299	rs_779973529	8 SubmittersRCV000290926 RCV000320862 RCV000379421 RCV000378340 RCV000489125 RCV000777729 RCV001729526 RCV001364427 RCV002436162 RCV003320163
NM_000257.4(MYH7):c.2955G>A (p.Leu985=)	SNV Germline	Chr14:23423691	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy 1 Left ventricular noncompaction cardiomyopathy MYH7-related skeletal myopathy Myosin storage myopathy Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA10643996	rs_886050420	2 SubmittersRCV000326485 RCV000327602 RCV000357658 RCV000384448 RCV003320165 RCV001416434
NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val)	SNV Germline	Chr14:23418405	Conflicting classifications of pathogenicity	Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 MYH7-related skeletal myopathy Condition: not provided Cardiomyopathy Myosin storage myopathy Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA039802	rs_768393069	6 SubmittersRCV000281839 RCV000330935 RCV000363030 RCV000385552 RCV001540354 RCV001525477 RCV003320160 RCV002522300
NM_000257.4(MYH7):c.3934C>T (p.Leu1312=)	SNV Germline	Chr14:23419215	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 Cardiomyopathy Hypertrophic cardiomyopathy Cardiovascular phenotype Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA10645054	rs_886050419	5 SubmittersRCV000314985 RCV000363689 RCV000391955 RCV000404127 RCV001188876 RCV002056397 RCV003298373 RCV003320161
NM_000257.4(MYH7):c.1671G>T (p.Leu557=)	SNV Germline	Chr14:23427802	Conflicting classifications of pathogenicity	Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy 1 MYH7-related skeletal myopathy Left ventricular noncompaction cardiomyopathy Myosin storage myopathy Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA029085	rs_149386750	2 SubmittersRCV000264432 RCV000315094 RCV000353594 RCV000318577 RCV003320172 RCV001434461
NM_000257.4(MYH7):c.1139-4C>T	SNV Germline	Chr14:23429351	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 Dilated cardiomyopathy 1S Cardiomyopathy Hypertrophic cardiomyopathy Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA10645061	rs_886050422	4 SubmittersRCV000270431 RCV000293198 RCV000362774 RCV000384805 RCV001188428 RCV002056398 RCV003320174
NM_000257.4(MYH7):c.1138+7G>A	SNV Germline	Chr14:23429768	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 Myosin storage myopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA10645070	rs_886050423	2 SubmittersRCV000335426 RCV000338844 RCV000388737 RCV003320175 RCV000401618 RCV002520895
NM_005159.5(ACTC1):c.-36C>G	SNV Germline	Chr15:34795519	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Familial restrictive cardiomyopathy Hypertrophic cardiomyopathy Atrial septal defect Dilated Cardiomyopathy, Dominant not specified	Criteria Provided Conflicting Classifications	CA10645779	rs_886051091	2 SubmittersRCV000288762 RCV000325108 RCV000328680 RCV000383223 RCV000379885 RCV000608420
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=)	SNV Germline	ChrX:154419586	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Primary dilated cardiomyopathy 3-Methylglutaconic aciduria type 2 Endocardial fibroelastosis Condition: not provided	Criteria Provided Conflicting Classifications	CA10653864	rs_1057515818	3 SubmittersRCV000307696 RCV000350806 RCV000395947 RCV000402701 RCV000841319
NM_000257.4(MYH7):c.2510A>T (p.Lys837Met)	SNV Germline	Chr14:23424938	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy Left ventricular hypertrophy Left ventricular noncompaction cardiomyopathy	Criteria Provided Conflicting Classifications	CA16614488	rs_1060501439	2 SubmittersRCV000467403 RCV000758564
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter)	SNV Germline	Chr2:178777249	Conflicting classifications of pathogenicity	not specified Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype TTN-related disorder	Criteria Provided Conflicting Classifications	CA349462378	rs_1554008881	4 SubmittersRCV000599182 RCV002062110 RCV002341535 RCV004735656
NM_001386795.1(DTNA):c.68-7G>A	SNV Germline	Chr18:34765954	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Ventricular tachycardia Primary dilated cardiomyopathy Left ventricular noncompaction 1 not specified DTNA-related disorder	Criteria Provided Conflicting Classifications	CA8935274	rs_372126412	4 SubmittersRCV000626807 RCV001469645 RCV003317301 RCV003928040
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)	SNV Germline	Chr2:178592056	Likely pathogenic	Cardiovascular phenotype Dilated cardiomyopathy 1G Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Left ventricular noncompaction cardiomyopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1559598775	5 SubmittersRCV002325400 RCV004760728 RCV000697657 RCV000850349 RCV004792399
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg)	SNV Germline	Chr14:23431859	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Cardiovascular phenotype Cardiomyopathy Myosin storage myopathy Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Myopathy, myosin storage, autosomal recessive Hypertrophic cardiomyopathy 1	Criteria Provided Conflicting Classifications		rs_760187215	5 SubmittersRCV000757956 RCV001207953 RCV002343609 RCV003150341 RCV003333107 RCV003333103 RCV003333104 RCV003333106 RCV003333105
NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg)	SNV Germline	Chr11:47337421	Likely pathogenic	Left ventricular noncompaction 10 Left ventricular noncompaction cardiomyopathy	Criteria Provided Single Submitter		rs_1595843553	1 SubmittersRCV000787296 RCV002061133
NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter)	SNV Germline	Chr2:178528367	Likely pathogenic	Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Condition: not provided Left ventricular noncompaction cardiomyopathy 6 conditions	Criteria Provided Multiple Submitters No Conflicts		rs_1477669354	4 SubmittersRCV000794012 RCV002255166 RCV002061140 RCV004796315
NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter)	SNV Germline	Chr2:178575253	Likely pathogenic	Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Left ventricular noncompaction cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts		rs_1575799625	2 SubmittersRCV000806370 RCV002067395
NM_000257.4(MYH7):c.1283C>A (p.Ala428Asp)	SNV Germline	Chr14:23429079	Pathogenic/Likely pathogenic	Left ventricular noncompaction cardiomyopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_727503266	2 SubmittersRCV000853170 RCV001093024
NM_001018005.2(TPM1):c.257C>T (p.Ala86Val)	SNV Germline	Chr15:63057001	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications		rs_757577112	2 SubmittersRCV000853182 RCV001040759
NM_000116.5(TAFAZZIN):c.355G>A (p.Val119Met)	SNV Germline	ChrX:154413552	Likely pathogenic	Left ventricular noncompaction cardiomyopathy	Criteria Provided Single Submitter		rs_1603377936	1 SubmittersRCV000853163
NM_001943.5(DSG2):c.2001+3C>G	SNV Germline	Chr18:31541317	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 10	Criteria Provided Conflicting Classifications		rs_746471051	4 SubmittersRCV000853140 RCV001184512 RCV002415971 RCV002536194
NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser)	SNV Germline	Chr15:73329725	Pathogenic/Likely pathogenic	Brugada syndrome 8 Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_121908411	3 SubmittersRCV001246540 RCV001254756 RCV002393656
NM_005477.3(HCN4):c.1445G>A (p.Gly482Glu)	SNV Germline	Chr15:73329718	Likely pathogenic	Left ventricular noncompaction cardiomyopathy	Criteria Provided Single Submitter		rs_2151217037	1 SubmittersRCV002208729
NM_005477.3(HCN4):c.1454C>T (p.Ala485Val)	SNV Germline	Chr15:73329709	Pathogenic/Likely pathogenic	Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Brugada syndrome 8 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1454748709	4 SubmittersRCV002204524 RCV002391369 RCV003505193 RCV004700690
NM_000257.4(MYH7):c.1048T>A (p.Tyr350Asn)	SNV Germline	Chr14:23429865	Likely pathogenic	Left ventricular noncompaction cardiomyopathy	Criteria Provided Single Submitter		rs_730880863	1 SubmittersRCV002208730
NM_022114.4(PRDM16):c.1627C>T (p.Gln543Ter)	SNV Germline	Chr1:3411824	Pathogenic	Left ventricular noncompaction cardiomyopathy	Criteria Provided Single Submitter		rs_2100662912	1 SubmittersRCV002204525
NM_002880.4(RAF1):c.806C>T (p.Thr269Ile)	SNV Germline	Chr3:12604164	Likely pathogenic	Left ventricular noncompaction cardiomyopathy	Criteria Provided Single Submitter		rs_2058951328	1 SubmittersRCV002208731
NM_005477.3(HCN4):c.1740G>C (p.Glu580Asp)	SNV Unknown	Chr15:73325193	Pathogenic	Left ventricular noncompaction cardiomyopathy	No Assertion Criteria Provided		rs_1384829419	1 SubmittersRCV002269250

NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)

SNV
Germline

Chr14:23424059

Pathogenic/Likely pathogenic

Hypertrophic cardiomyopathy 1
Hypertrophic cardiomyopathy
Condition: not provided
6 conditions
MYH7-related disorder
Cardiovascular phenotype
Cardiomyopathy
Left ventricular noncompaction cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA013034

rs_121913628

16 SubmittersRCV000015148 RCV000197762 RCV000158573 RCV000762922 RCV004532357 RCV000252292 RCV000770489 RCV002054441

NM_000257.4(MYH7):c.732+1G>A

SNV
Germline

Chr14:23431584

Pathogenic/Likely pathogenic

Left ventricular noncompaction 5
Hypertrophic cardiomyopathy
Condition: not provided
Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction
Cardiovascular phenotype
Hypertrophic cardiomyopathy 1
Dilated cardiomyopathy 1S

Criteria Provided
Multiple Submitters
No Conflicts

rs_730880850

11 SubmittersRCV000015188 RCV000477002 RCV000158758 RCV001256089 RCV000214568 RCV003298034 RCV001542486 RCV004799177

NM_007078.3(LDB3):c.690-4A>G

SNV
Germline

Chr10:86691892

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Dilated Cardiomyopathy, Dominant
Left ventricular noncompaction cardiomyopathy
Myofibrillar Myopathy, Dominant
Myofibrillar myopathy 4
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA180818

rs_45529531

17 SubmittersRCV000030120 RCV000154455 RCV000288174 RCV000347861 RCV000393351 RCV000405139 RCV000619569 RCV001529636

NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)

SNV
Germline

Chr11:47341223

Conflicting classifications of pathogenicity

not specified
Dilated Cardiomyopathy, Dominant
Left ventricular noncompaction cardiomyopathy
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA011214

rs_397515929

11 SubmittersRCV000035438 RCV000299218 RCV000264440 RCV000356394 RCV000618801 RCV000771259 RCV001727519

NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)

SNV
Germline

Chr11:47350048

Conflicting classifications of pathogenicity

not specified
Dilated Cardiomyopathy, Dominant
Hypertrophic cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015191

rs_150291001

14 SubmittersRCV000035632 RCV000282724 RCV000338909 RCV000378313 RCV000621509 RCV000769362 RCV000858618

NM_000257.4(MYH7):c.1191G>A (p.Lys397=)

SNV
Germline

Chr14:23429295

Conflicting classifications of pathogenicity

not specified
MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Dilated Cardiomyopathy, Dominant
Hypertrophic cardiomyopathy 1
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA010337

rs_139506719

10 SubmittersRCV000035705 RCV000297044 RCV000347165 RCV000312213 RCV000398355 RCV000584781 RCV000618918 RCV000725616 RCV000772167 RCV003320045

NM_000257.4(MYH7):c.1755C>A (p.Ile585=)

SNV
Germline

Chr14:23427718

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy
Left ventricular noncompaction cardiomyopathy
MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy 1
Dilated Cardiomyopathy, Dominant
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA011195

rs_201860580

11 SubmittersRCV000035745 RCV000280479 RCV000341444 RCV000376055 RCV001094219 RCV000399496 RCV001532237 RCV000621588 RCV000777768 RCV003320047

NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)

SNV
Germline

Chr14:23417668

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy
MYH7-related skeletal myopathy
Left ventricular noncompaction cardiomyopathy
Dilated Cardiomyopathy, Dominant
Cardiovascular phenotype
Hypertrophic cardiomyopathy 1
Cardiomyopathy
Condition: not provided
Myosin storage myopathy
MYH7-related disorder

Criteria Provided
Conflicting Classifications

CA014595

rs_200852418

15 SubmittersRCV000035889 RCV000199253 RCV000294195 RCV000352693 RCV000388586 RCV000619667 RCV001094205 RCV001190176 RCV001528229 RCV003320073 RCV004534746

NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)

SNV
Germline

Chr14:23417563

Conflicting classifications of pathogenicity

not specified
Left ventricular noncompaction cardiomyopathy
MYH7-related skeletal myopathy
Dilated Cardiomyopathy, Dominant
Hypertrophic cardiomyopathy
Cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy 1
Cardiovascular phenotype
Myosin storage myopathy
MYH7-related disorder

Criteria Provided
Conflicting Classifications

CA014782

rs_45560242

8 SubmittersRCV000035901 RCV000300774 RCV000260672 RCV000350069 RCV000355576 RCV000777759 RCV000868550 RCV001094104 RCV002326729 RCV003320076 RCV004534748

NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)

SNV
Germline

Chr14:23415153

Likely pathogenic

MYH7-related skeletal myopathy
Condition: not provided
Primary dilated cardiomyopathy
Neuromuscular disease
Left ventricular noncompaction cardiomyopathy
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
Myosin storage myopathy

Reviewed By Expert Panel

CA016087

rs_397516248

9 SubmittersRCV000132759 RCV000158700 RCV000211834 RCV000207999 RCV000487436 RCV000699484 RCV003320085

NM_000257.4(MYH7):c.5499C>T (p.Asn1833=)

SNV
Germline

Chr14:23415055

Conflicting classifications of pathogenicity

not specified
Left ventricular noncompaction cardiomyopathy
MYH7-related skeletal myopathy
Dilated Cardiomyopathy, Dominant
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Hypertrophic cardiomyopathy 1
Cardiomyopathy
Condition: not provided
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA016148

rs_3729831

8 SubmittersRCV000035967 RCV000278217 RCV000335514 RCV000348305 RCV000404590 RCV000620704 RCV001094079 RCV001190870 RCV001719729 RCV003320086

NM_000257.4(MYH7):c.5718A>C (p.Ala1906=)

SNV
Germline

Chr14:23413831

Conflicting classifications of pathogenicity

not specified
Dilated Cardiomyopathy, Dominant
MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy 1
Myosin storage myopathy
Left ventricular noncompaction cardiomyopathy
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA016408

rs_45523233

9 SubmittersRCV000035979 RCV000361493 RCV000304407 RCV001094150 RCV003320089 RCV000355690 RCV000402870 RCV002345284 RCV001190172 RCV003421946

NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn)

SNV
Germline

Chr19:55154151

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy
Cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA021641

rs_397516348

9 SubmittersRCV000159221 RCV000628944 RCV001192353 RCV002054586 RCV004018790

NM_001368067.1(LDB3):c.456G>T (p.Ala152=)

SNV
Germline

Chr10:86687180

Conflicting classifications of pathogenicity

not specified
Myofibrillar Myopathy, Dominant
Dilated Cardiomyopathy, Dominant
Myofibrillar myopathy 4
Left ventricular noncompaction cardiomyopathy

Criteria Provided
Conflicting Classifications

CA133078

rs_371708921

2 SubmittersRCV000036846 RCV000282359 RCV000334935 RCV000350220 RCV000374491

NM_001368067.1(LDB3):c.546T>C (p.Ser182=)

SNV
Germline

Chr10:86687270

Conflicting classifications of pathogenicity

not specified
Myofibrillar myopathy 4
Myofibrillar Myopathy, Dominant
Dilated Cardiomyopathy, Dominant
Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA133084

rs_71473272

14 SubmittersRCV000036849 RCV000273098 RCV000307366 RCV000303793 RCV000365510 RCV000618735 RCV001293331 RCV001530015

NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)

SNV
Germline

Chr6:7580562

Conflicting classifications of pathogenicity

not specified
Left ventricular noncompaction cardiomyopathy
Familial isolated arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular cardiomyopathy
Condition: not provided
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Cardiovascular phenotype
Cardiomyopathy
Primary familial dilated cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
DSP-related disorder
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004444

rs_28763965

25 SubmittersRCV000038041 RCV000157197 RCV000148477 RCV000238741 RCV000172538 RCV000368914 RCV000397854 RCV000622004 RCV000771820 RCV000845543 RCV001095209 RCV001085365 RCV003904925 RCV003993759

NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)

SNV
Germline

Chr17:41755775

Conflicting classifications of pathogenicity

not specified
Left ventricular noncompaction cardiomyopathy
Naxos disease
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12

Criteria Provided
Conflicting Classifications

CA137193

rs_151178348

11 SubmittersRCV000039078 RCV000157253 RCV000463617 RCV000621167 RCV000757414 RCV001123480 RCV001124559

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

SNV
Germline

Chr2:178731590

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA138786

rs_371785683

9 SubmittersRCV000039892 RCV000157571 RCV000285166 RCV000324946 RCV000381839 RCV000471462 RCV000272411 RCV000342528 RCV001170647 RCV001815173

NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter)

SNV
Germline

Chr1:3412301

Pathogenic

Left ventricular noncompaction 8
Left ventricular noncompaction cardiomyopathy

Criteria Provided
Single Submitter

CA144642

rs_397514742

2 SubmittersRCV000054518 RCV002054880

NM_000257.4(MYH7):c.847T>G (p.Tyr283Asp)

SNV
Germline

Chr14:23430949

Likely pathogenic

Left ventricular noncompaction 5
Left ventricular noncompaction cardiomyopathy

Criteria Provided
Single Submitter

CA016893

rs_397515482

2 SubmittersRCV000056316 RCV002054899

NM_004006.3(DMD):c.1337A>G (p.His446Arg)

SNV
Germline

ChrX:32614448

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Condition: not provided
Becker muscular dystrophy
Duchenne muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA285523

rs_72468699

7 SubmittersRCV000157166 RCV000157165 RCV000243647 RCV000869409 RCV001168118 RCV001719836 RCV001835674 RCV004542772

NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)

SNV
Germline

Chr14:23428505

Pathogenic/Likely pathogenic

Familial cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Dilated cardiomyopathy 1S
Hypertrophic cardiomyopathy
Condition: not provided
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy 1
Myopathy, myosin storage, autosomal recessive
Myosin storage myopathy
Dilated cardiomyopathy 1S
MYH7-related skeletal myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA010981

rs_606231324

10 SubmittersRCV000148974 RCV000157356 RCV000578453 RCV000466357 RCV000786168 RCV001281475 RCV003883132

NM_000257.4(MYH7):c.3621C>T (p.Ile1207=)

SNV
Germline

Chr14:23419950

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy
Dilated Cardiomyopathy, Dominant
MYH7-related skeletal myopathy
Left ventricular noncompaction cardiomyopathy
Cardiomyopathy
Hypertrophic cardiomyopathy 1
Cardiovascular phenotype
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA013881

rs_529700838

7 SubmittersRCV000126995 RCV000233427 RCV000265099 RCV000301315 RCV000353951 RCV000771155 RCV001094107 RCV002453454 RCV003320100

NM_000257.4(MYH7):c.860A>G (p.Tyr287Cys)

SNV
Germline

Chr14:23430936

Likely pathogenic

Left ventricular noncompaction cardiomyopathy

No Assertion Criteria Provided

CA016907

rs_587782961

1 SubmittersRCV000143920

NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)

SNV
Germline

Chr11:47332244

Pathogenic/Likely pathogenic

Condition: not provided
Hypertrophic cardiomyopathy 4
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Left ventricular noncompaction 10
Hypertrophic cardiomyopathy 4
Cardiomyopathy
Primary dilated cardiomyopathy
Left ventricular noncompaction cardiomyopathy
MYBPC3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA014549

rs_368765949

11 SubmittersRCV000158241 RCV000201437 RCV000206843 RCV002453476 RCV002478419 RCV001179298 RCV001263457 RCV004551299

NM_001927.4(DES):c.635G>A (p.Arg212Gln)

SNV
Germline

Chr2:219420151

Conflicting classifications of pathogenicity

not specified
Left ventricular noncompaction cardiomyopathy
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome, Kaeser type
Myofibrillar Myopathy, Dominant
Condition: not provided
See cases
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181189

rs_144261171

13 SubmittersRCV000154696 RCV000157163 RCV000229797 RCV000307432 RCV000393436 RCV000406154 RCV000725364 RCV001264391 RCV001798502 RCV002362812

NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu)

SNV
Germline

Chr11:47349871

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
Cardiomyopathy
Primary dilated cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Hypertrophic cardiomyopathy 4

Criteria Provided
Conflicting Classifications

CA015477

rs_727503216

11 SubmittersRCV000801763 RCV000777987 RCV001263458 RCV002345464 RCV000766311 RCV004786404

NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)

SNV
Germline

Chr11:47351457

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
Left ventricular noncompaction cardiomyopathy
Dilated Cardiomyopathy, Dominant
Condition: not provided
Left ventricular noncompaction 10
Hypertrophic cardiomyopathy 4

Criteria Provided
Conflicting Classifications

CA015780

rs_371140684

10 SubmittersRCV000151173 RCV000314127 RCV001170432 RCV002390324 RCV000350432 RCV000402678 RCV003129791 RCV003224173

NM_001368067.1(LDB3):c.456G>A (p.Ala152=)

SNV
Germline

Chr10:86687180

Conflicting classifications of pathogenicity

not specified
Myofibrillar myopathy 4
Myofibrillar Myopathy, Dominant
Left ventricular noncompaction cardiomyopathy
Dilated Cardiomyopathy, Dominant
Dilated cardiomyopathy 1C
LDB3-related disorder

Criteria Provided
Conflicting Classifications

CA183520

rs_371708921

5 SubmittersRCV000155799 RCV000270042 RCV000292985 RCV000332141 RCV000389071 RCV001293330 RCV003945239

NM_002471.4(MYH6):c.831G>T (p.Gln277His)

SNV
Germline

Chr14:23403415

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Brugada syndrome
Hypertrophic cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Hypertrophic cardiomyopathy 14
Hypertrophic cardiomyopathy 1
Cardiovascular phenotype
Long QT syndrome
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181127

rs_140660481

13 SubmittersRCV000154662 RCV000172034 RCV000769431 RCV000999591 RCV001083211 RCV001256735 RCV002408687 RCV003318356 RCV004765314

NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)

SNV
Germline

Chr14:23422190

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Dilated cardiomyopathy 1S
Primary familial hypertrophic cardiomyopathy
not specified
Hypertrophic cardiomyopathy
Condition: not provided
Myosin storage myopathy
Cardiomyopathy
Hypertrophic cardiomyopathy 1
MYH7-related skeletal myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA013466

rs_192722540

10 SubmittersRCV000269104 RCV000277463 RCV000627137 RCV000151250 RCV000326571 RCV001704089 RCV003320107 RCV000777762 RCV001094089 RCV000365939 RCV002444618

NM_001035.3(RYR2):c.14565T>G (p.Ile4855Met)

SNV
Germline

Chr1:237819167

Likely pathogenic

Left ventricular noncompaction cardiomyopathy

Criteria Provided
Single Submitter

CA008301

rs_730880199

1 SubmittersRCV000157468

NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn)

SNV
Germline

Chr6:7580847

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
not specified
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA004136

rs_730880084

6 SubmittersRCV000157199 RCV000215613 RCV000777708 RCV001308830 RCV003998332 RCV003372622

NM_004415.4(DSP):c.4915G>A (p.Val1639Met)

SNV
Germline

Chr6:7581105

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA004201

rs_539587517

5 SubmittersRCV000157201 RCV000797000 RCV001184780 RCV002272145 RCV002336341

NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile)

SNV
Germline

Chr11:47341230

Conflicting classifications of pathogenicity

Condition: not provided
Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA011188

rs_730880551

5 SubmittersRCV000158117 RCV000853169 RCV002408712 RCV002516378

NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His)

SNV
Germline

Chr11:47348487

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Cardiomyopathy
Left ventricular noncompaction cardiomyopathy
MYBPC3-related disorder

Criteria Provided
Conflicting Classifications

CA015732

rs_730880624

8 SubmittersRCV000158306 RCV000621974 RCV001208477 RCV001798531 RCV002053907 RCV004551359

NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val)

SNV
Germline

Chr11:47350576

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy
Dilated Cardiomyopathy, Dominant
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA013936

rs_730880530

6 SubmittersRCV000280240 RCV001525480 RCV002281062 RCV000335325 RCV000374801 RCV002321659

NM_000257.4(MYH7):c.2526T>C (p.Ser842=)

SNV
Germline

Chr14:23424922

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Dilated Cardiomyopathy, Dominant
Cardiomyopathy
Hypertrophic cardiomyopathy 1
Condition: not provided
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA012544

rs_554560162

9 SubmittersRCV000158491 RCV000241722 RCV000287734 RCV000382086 RCV000389957 RCV000294051 RCV000777730 RCV001094114 RCV001706061 RCV003320117

NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro)

SNV
Germline

Chr6:7581151

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004217

rs_749730642

9 SubmittersRCV000219274 RCV000457559 RCV000771384 RCV000853137 RCV001537824 RCV002345629 RCV003996651

NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)

SNV
Germline

Chr6:7583659

Conflicting classifications of pathogenicity

not specified
Left ventricular noncompaction cardiomyopathy
Condition: not provided
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
6 conditions

Criteria Provided
Conflicting Classifications

CA006920

rs_372393122

11 SubmittersRCV000181340 RCV000678705 RCV000766888 RCV001179588 RCV001227095 RCV002354472 RCV002485191

NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter)

SNV
Germline

Chr2:178594134

Likely pathogenic

Left ventricular noncompaction cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J

Criteria Provided
Multiple Submitters
No Conflicts

CA351816

rs_869025544

2 SubmittersRCV000208156 RCV001046289

NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=)

SNV
Germline

Chr6:112154945

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1JJ

Criteria Provided
Conflicting Classifications

CA069479

rs_140246538

4 SubmittersRCV000208210 RCV000620908 RCV001484119

NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys)

SNV
Germline

Chr6:7580998

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA351759

rs_869025393

4 SubmittersRCV000208078 RCV001347430 RCV002336577 RCV003997680

NM_000257.4(MYH7):c.733-3C>T

SNV
Germline

Chr14:23431484

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
MYH7-related skeletal myopathy
Left ventricular noncompaction cardiomyopathy
Scapuloperoneal myopathy
Dilated Cardiomyopathy, Dominant
Hypertrophic cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA048995

rs_765068619

7 SubmittersRCV000208437 RCV000281328 RCV000336260 RCV000372281 RCV000296529 RCV000375775 RCV001179548 RCV002381715 RCV003320139

NM_004006.3(DMD):c.8851C>T (p.Arg2951Cys)

SNV
Germline

ChrX:31478192

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Duchenne muscular dystrophy

Criteria Provided
Conflicting Classifications

CA070630

rs_760516307

4 SubmittersRCV000208509 RCV000315245 RCV002444834 RCV002517392

NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)

SNV
Germline

Chr2:178587708

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA130338

rs_764243269

10 SubmittersRCV000209814 RCV000786239 RCV001239700 RCV001798696 RCV002057055 RCV002453754 RCV002503827 RCV004764919

NM_007078.3(LDB3):c.689+3861C>T

SNV
Germline

Chr10:86685664

Conflicting classifications of pathogenicity

not specified
Dilated Cardiomyopathy, Dominant
Myofibrillar myopathy 4
Left ventricular noncompaction cardiomyopathy
Myofibrillar Myopathy, Dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5584773

rs_754704023

6 SubmittersRCV000219436 RCV000267983 RCV000298515 RCV000301609 RCV000360274 RCV001529058

NC_000011.10:g.47333340G>A

SNV
Germline

Chr11:47333340

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Hypertrophic cardiomyopathy
Dilated Cardiomyopathy, Dominant
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10631009

rs_373012629

6 SubmittersRCV000292654 RCV000349979 RCV000403432 RCV001187916 RCV002225581

NC_000011.10:g.47346380G>A

SNV
Germline

Chr11:47346380

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Hypertrophic cardiomyopathy
Dilated Cardiomyopathy, Dominant
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10631017

rs_201078659

6 SubmittersRCV000305886 RCV000360595 RCV000396667 RCV001176816 RCV001711908

NM_007078.3(LDB3):c.690-4617G>A

SNV
Germline

Chr10:86687279

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Myofibrillar myopathy 4
Myofibrillar Myopathy, Dominant
Dilated Cardiomyopathy, Dominant
not specified

Criteria Provided
Conflicting Classifications

CA5584842

rs_754174632

3 SubmittersRCV000287151 RCV000322767 RCV000342117 RCV000379731 RCV000600251

NM_007078.3(LDB3):c.723C>T (p.Ser241=)

SNV
Germline

Chr10:86691929

Conflicting classifications of pathogenicity

Myofibrillar myopathy 4
Dilated cardiomyopathy 1C
Left ventricular noncompaction cardiomyopathy
Myofibrillar Myopathy, Dominant
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5584882

rs_200580597

4 SubmittersRCV000312674 RCV000313701 RCV000367463 RCV000393350 RCV001683214 RCV002374514

NM_000257.4(MYH7):c.*105T>C

SNV
Germline

Chr14:23412749

Conflicting classifications of pathogenicity

Dilated Cardiomyopathy, Dominant
Left ventricular noncompaction cardiomyopathy
MYH7-related skeletal myopathy
Scapuloperoneal myopathy
Hypertrophic cardiomyopathy
Condition: not provided
Myosin storage myopathy
Hypertrophic cardiomyopathy 1

Criteria Provided
Conflicting Classifications

CA10634744

rs_200550717

2 SubmittersRCV000360393 RCV000303437 RCV000366623 RCV000316393 RCV000394482 RCV001690036 RCV003320149 RCV001112122

NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)

SNV
Germline

Chr14:23416049

Conflicting classifications of pathogenicity

MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy
Dilated Cardiomyopathy, Dominant
Left ventricular noncompaction cardiomyopathy
Cardiomyopathy
Hypertrophic cardiomyopathy 1
Condition: not provided
Myosin storage myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA044195

rs_150241539

10 SubmittersRCV000295116 RCV000289294 RCV000346623 RCV000386925 RCV000769442 RCV001094082 RCV001530148 RCV003320154 RCV004021581

NM_000257.4(MYH7):c.4410G>A (p.Ser1470=)

SNV
Germline

Chr14:23417262

Conflicting classifications of pathogenicity

MYH7-related skeletal myopathy
Dilated Cardiomyopathy, Dominant
Hypertrophic cardiomyopathy
Left ventricular noncompaction cardiomyopathy
not specified
Hypertrophic cardiomyopathy 1
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA042203

rs_578166720

7 SubmittersRCV000262797 RCV000318017 RCV000324167 RCV000372701 RCV000441186 RCV001094204 RCV001172071 RCV001189184 RCV002328825 RCV003320157

NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)

SNV
Germline

Chr14:23418221

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
MYH7-related skeletal myopathy
Dilated Cardiomyopathy, Dominant
Scapuloperoneal myopathy
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA10634753

rs_886050418

6 SubmittersRCV000266219 RCV000271995 RCV000302577 RCV000360417 RCV000366572 RCV000622162 RCV001184782 RCV001660631 RCV003320159

NM_000257.4(MYH7):c.3148C>A (p.Arg1050=)

SNV
Germline

Chr14:23422277

Conflicting classifications of pathogenicity

MYH7-related skeletal myopathy
Dilated Cardiomyopathy, Dominant
Hypertrophic cardiomyopathy 1
Left ventricular noncompaction cardiomyopathy
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA035886

rs_730880767

1 SubmittersRCV000306255 RCV000302884 RCV000392947 RCV000363509 RCV003320162

NM_000257.4(MYH7):c.2692C>T (p.Leu898=)

SNV
Germline

Chr14:23424137

Conflicting classifications of pathogenicity

MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy 1
Dilated Cardiomyopathy, Dominant
Left ventricular noncompaction cardiomyopathy
not specified
Cardiomyopathy
Hypertrophic cardiomyopathy
Myosin storage myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA034075

rs_727504407

6 SubmittersRCV000261564 RCV000315717 RCV000321468 RCV000374938 RCV000602384 RCV001524259 RCV001485546 RCV003320169 RCV003165841

NM_007078.3(LDB3):c.-23-32C>A

SNV
Germline

Chr10:86668637

Conflicting classifications of pathogenicity

Myofibrillar myopathy 4
Left ventricular noncompaction cardiomyopathy
Dilated Cardiomyopathy, Dominant
Myofibrillar Myopathy, Dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10636681

rs_34972863

3 SubmittersRCV000260607 RCV000322842 RCV000353070 RCV000379799 RCV002262952

NM_007078.3(LDB3):c.897-6834C>T

SNV
Germline

Chr10:86699697

Conflicting classifications of pathogenicity

Myofibrillar Myopathy, Dominant
Left ventricular noncompaction cardiomyopathy
Dilated Cardiomyopathy, Dominant
Condition: not provided
Myofibrillar myopathy 4

Criteria Provided
Conflicting Classifications

CA10636699

rs_185972751

2 SubmittersRCV000357141 RCV000297716 RCV000303374 RCV003422226 RCV000396876

NM_007078.3(LDB3):c.897-6707G>A

SNV
Germline

Chr10:86699824

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1C
Left ventricular noncompaction cardiomyopathy
Myofibrillar Myopathy, Dominant
Myofibrillar myopathy 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10636701

rs_537660741

2 SubmittersRCV000269632 RCV000275628 RCV000329332 RCV000383848 RCV003422227

NM_000256.3(MYBPC3):c.1553T>C (p.Met518Thr)

SNV
Germline

Chr11:47342649

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Dilated Cardiomyopathy, Dominant
Hypertrophic cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10638733

rs_886048378

3 SubmittersRCV000294153 RCV000347820 RCV000386120 RCV004649123

NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=)

SNV
Germline

Chr11:47346241

Conflicting classifications of pathogenicity

Dilated Cardiomyopathy, Dominant
Hypertrophic cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA042179

rs_375007425

6 SubmittersRCV000263851 RCV000318985 RCV000373599 RCV001525475 RCV003298366 RCV003993925

NM_000257.4(MYH7):c.5394C>T (p.Asp1798=)

SNV
Germline

Chr14:23415160

Conflicting classifications of pathogenicity

Dilated Cardiomyopathy, Dominant
MYH7-related skeletal myopathy
Left ventricular noncompaction cardiomyopathy
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 1
Cardiomyopathy
Myosin storage myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA046635

rs_777053791

5 SubmittersRCV000324458 RCV000266902 RCV000279954 RCV000372082 RCV001094139 RCV000777685 RCV003320151 RCV002348050

NM_000257.4(MYH7):c.2922+6G>C

SNV
Germline

Chr14:23423901

Conflicting classifications of pathogenicity

MYH7-related skeletal myopathy
Dilated Cardiomyopathy, Dominant
Left ventricular noncompaction cardiomyopathy
Scapuloperoneal myopathy
Hypertrophic cardiomyopathy
Cardiomyopathy
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA034769

rs_781192476

4 SubmittersRCV000269967 RCV000271056 RCV000306306 RCV000330994 RCV000365611 RCV001187910 RCV003320167

NM_000257.4(MYH7):c.2028T>C (p.Asn676=)

SNV
Germline

Chr14:23426793

Conflicting classifications of pathogenicity

Dilated Cardiomyopathy, Dominant
MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Cardiomyopathy
Hypertrophic cardiomyopathy 1
Cardiovascular phenotype
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA030827

rs_145564868

5 SubmittersRCV000350729 RCV000295852 RCV000330769 RCV000385345 RCV001180600 RCV001094120 RCV002418165 RCV003320170

NM_000257.4(MYH7):c.1179C>T (p.Ala393=)

SNV
Germline

Chr14:23429307

Conflicting classifications of pathogenicity

MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy
Dilated Cardiomyopathy, Dominant
Left ventricular noncompaction cardiomyopathy
Cardiomyopathy
Myosin storage myopathy
Hypertrophic cardiomyopathy 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA027786

rs_143293426

7 SubmittersRCV000261870 RCV000354294 RCV000324562 RCV000302404 RCV001188872 RCV003320173 RCV001094225 RCV001705468 RCV002338897

NM_000257.4(MYH7):c.1000-13G>T

SNV
Germline

Chr14:23429926

Conflicting classifications of pathogenicity

MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy 1
Left ventricular noncompaction cardiomyopathy
Dilated cardiomyopathy 1S
Myosin storage myopathy
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA027362

rs_772831757

2 SubmittersRCV000314183 RCV000345388 RCV000400365 RCV000383584 RCV003320176 RCV001859876

NM_000257.4(MYH7):c.-62C>T

SNV
Germline

Chr14:23434247

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
MYH7-related skeletal myopathy
Dilated Cardiomyopathy, Dominant
Hypertrophic cardiomyopathy 1
Myosin storage myopathy
Condition: not provided
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10639982

rs_45566639

3 SubmittersRCV000294289 RCV000290818 RCV000385187 RCV000345860 RCV003320182 RCV001597070 RCV001516184

NM_001386795.1(DTNA):c.54G>A (p.Leu18=)

SNV
Germline

Chr18:34756030

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction 1

Criteria Provided
Conflicting Classifications

CA8935252

rs_754265551

2 SubmittersRCV000296448 RCV001462545

NM_000257.4(MYH7):c.4659C>T (p.His1553=)

SNV
Germline

Chr14:23416298

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
MYH7-related skeletal myopathy
Dilated Cardiomyopathy, Dominant
Left ventricular noncompaction cardiomyopathy
not specified
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Hypertrophic cardiomyopathy 1
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA043411

rs_570079347

8 SubmittersRCV000285796 RCV000334901 RCV000340776 RCV000391904 RCV000428502 RCV001170989 RCV000861726 RCV002338896 RCV001094083 RCV003320156

NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp)

SNV
Germline

Chr14:23423611

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Dilated Cardiomyopathy, Dominant
MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy 1
Condition: not provided
Cardiomyopathy
Dilated cardiomyopathy 1S
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA035299

rs_779973529

8 SubmittersRCV000290926 RCV000320862 RCV000379421 RCV000378340 RCV000489125 RCV000777729 RCV001729526 RCV001364427 RCV002436162 RCV003320163

NM_000257.4(MYH7):c.2955G>A (p.Leu985=)

SNV
Germline

Chr14:23423691

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1S
Hypertrophic cardiomyopathy 1
Left ventricular noncompaction cardiomyopathy
MYH7-related skeletal myopathy
Myosin storage myopathy
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10643996

rs_886050420

2 SubmittersRCV000326485 RCV000327602 RCV000357658 RCV000384448 RCV003320165 RCV001416434

NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val)

SNV
Germline

Chr14:23418405

Conflicting classifications of pathogenicity

Dilated Cardiomyopathy, Dominant
Left ventricular noncompaction cardiomyopathy
Hypertrophic cardiomyopathy 1
MYH7-related skeletal myopathy
Condition: not provided
Cardiomyopathy
Myosin storage myopathy
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA039802

rs_768393069

6 SubmittersRCV000281839 RCV000330935 RCV000363030 RCV000385552 RCV001540354 RCV001525477 RCV003320160 RCV002522300

NM_000257.4(MYH7):c.3934C>T (p.Leu1312=)

SNV
Germline

Chr14:23419215

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1S
MYH7-related skeletal myopathy
Left ventricular noncompaction cardiomyopathy
Hypertrophic cardiomyopathy 1
Cardiomyopathy
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA10645054

rs_886050419

5 SubmittersRCV000314985 RCV000363689 RCV000391955 RCV000404127 RCV001188876 RCV002056397 RCV003298373 RCV003320161

NM_000257.4(MYH7):c.1671G>T (p.Leu557=)

SNV
Germline

Chr14:23427802

Conflicting classifications of pathogenicity

Dilated Cardiomyopathy, Dominant
Hypertrophic cardiomyopathy 1
MYH7-related skeletal myopathy
Left ventricular noncompaction cardiomyopathy
Myosin storage myopathy
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA029085

rs_149386750

2 SubmittersRCV000264432 RCV000315094 RCV000353594 RCV000318577 RCV003320172 RCV001434461

NM_000257.4(MYH7):c.1139-4C>T

SNV
Germline

Chr14:23429351

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy 1
Dilated cardiomyopathy 1S
Cardiomyopathy
Hypertrophic cardiomyopathy
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA10645061

rs_886050422

4 SubmittersRCV000270431 RCV000293198 RCV000362774 RCV000384805 RCV001188428 RCV002056398 RCV003320174

NM_000257.4(MYH7):c.1138+7G>A

SNV
Germline

Chr14:23429768

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1S
MYH7-related skeletal myopathy
Hypertrophic cardiomyopathy 1
Myosin storage myopathy
Left ventricular noncompaction cardiomyopathy
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10645070

rs_886050423

2 SubmittersRCV000335426 RCV000338844 RCV000388737 RCV003320175 RCV000401618 RCV002520895

NM_005159.5(ACTC1):c.-36C>G

SNV
Germline

Chr15:34795519

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Familial restrictive cardiomyopathy
Hypertrophic cardiomyopathy
Atrial septal defect
Dilated Cardiomyopathy, Dominant
not specified

Criteria Provided
Conflicting Classifications

CA10645779

rs_886051091

2 SubmittersRCV000288762 RCV000325108 RCV000328680 RCV000383223 RCV000379885 RCV000608420

NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=)

SNV
Germline

ChrX:154419586

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Primary dilated cardiomyopathy
3-Methylglutaconic aciduria type 2
Endocardial fibroelastosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10653864

rs_1057515818

3 SubmittersRCV000307696 RCV000350806 RCV000395947 RCV000402701 RCV000841319

NM_000257.4(MYH7):c.2510A>T (p.Lys837Met)

SNV
Germline

Chr14:23424938

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
Left ventricular hypertrophy
Left ventricular noncompaction cardiomyopathy

Criteria Provided
Conflicting Classifications

CA16614488

rs_1060501439

2 SubmittersRCV000467403 RCV000758564

NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter)

SNV
Germline

Chr2:178777249

Conflicting classifications of pathogenicity

not specified
Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA349462378

rs_1554008881

4 SubmittersRCV000599182 RCV002062110 RCV002341535 RCV004735656

NM_001386795.1(DTNA):c.68-7G>A

SNV
Germline

Chr18:34765954

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Ventricular tachycardia
Primary dilated cardiomyopathy
Left ventricular noncompaction 1
not specified
DTNA-related disorder

Criteria Provided
Conflicting Classifications

CA8935274

rs_372126412

4 SubmittersRCV000626807 RCV001469645 RCV003317301 RCV003928040

NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)

SNV
Germline

Chr2:178592056

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559598775

5 SubmittersRCV002325400 RCV004760728 RCV000697657 RCV000850349 RCV004792399

NM_000257.4(MYH7):c.541G>A (p.Gly181Arg)

SNV
Germline

Chr14:23431859

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Myosin storage myopathy
Dilated cardiomyopathy 1S
MYH7-related skeletal myopathy
Myopathy, myosin storage, autosomal recessive
Hypertrophic cardiomyopathy 1

Criteria Provided
Conflicting Classifications

rs_760187215

5 SubmittersRCV000757956 RCV001207953 RCV002343609 RCV003150341 RCV003333107 RCV003333103 RCV003333104 RCV003333106 RCV003333105

NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg)

SNV
Germline

Chr11:47337421

Likely pathogenic

Left ventricular noncompaction 10
Left ventricular noncompaction cardiomyopathy

Criteria Provided
Single Submitter

rs_1595843553

1 SubmittersRCV000787296 RCV002061133

NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter)

SNV
Germline

Chr2:178528367

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1477669354

4 SubmittersRCV000794012 RCV002255166 RCV002061140 RCV004796315

NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter)

SNV
Germline

Chr2:178575253

Likely pathogenic

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Left ventricular noncompaction cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1575799625

2 SubmittersRCV000806370 RCV002067395

NM_000257.4(MYH7):c.1283C>A (p.Ala428Asp)