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 Cardiovascular phenotype Cardiomyopathy 6 conditions MYH7-related disorder Left ventricular noncompaction cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA013034	rs_121913628	16 SubmittersRCV000015148 RCV000197762 RCV000158573 RCV000252292 RCV000770489 RCV000762922 RCV004532357 RCV002054441
NM_000257.4(MYH7):c.732+1G>A	SNV Germline	Chr14:23431584	Pathogenic/Likely pathogenic	Left ventricular noncompaction 5 Condition: not provided Left ventricular noncompaction Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Dilated cardiomyopathy 1S	Criteria Provided Multiple Submitters No Conflicts	CA016715	rs_730880850	13 SubmittersRCV000015188 RCV000158758 RCV000214568 RCV000477002 RCV001542486 RCV001256089 RCV003298034 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 Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Cardiovascular phenotype Dilated Cardiomyopathy, Dominant Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA011214	rs_397515929	11 SubmittersRCV000035438 RCV000264440 RCV000356394 RCV000618801 RCV000299218 RCV000771259 RCV001727519
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)	SNV Germline	Chr11:47350048	Conflicting classifications of pathogenicity	not specified Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA015191	rs_150291001	15 SubmittersRCV000035632 RCV000378313 RCV000621509 RCV000282724 RCV000338909 RCV000858618 RCV000769362
NM_000257.4(MYH7):c.1191G>A (p.Lys397=)	SNV Germline	Chr14:23429295	Conflicting classifications of pathogenicity	not specified Left ventricular noncompaction cardiomyopathy MYH7-related skeletal myopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Condition: not provided Hypertrophic cardiomyopathy 1 Cardiovascular phenotype Cardiomyopathy Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA010337	rs_139506719	10 SubmittersRCV000035705 RCV000312213 RCV000297044 RCV000347165 RCV000398355 RCV000725616 RCV000584781 RCV000618918 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 Dilated Cardiomyopathy, Dominant Cardiovascular phenotype Cardiomyopathy Hypertrophic cardiomyopathy 1 Condition: not provided Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA011195	rs_201860580	12 SubmittersRCV000035745 RCV000280479 RCV000341444 RCV000376055 RCV000399496 RCV000621588 RCV000777768 RCV001094219 RCV001532237 RCV003320047
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)	SNV Germline	Chr14:23417668	Conflicting classifications of pathogenicity	not specified MYH7-related skeletal myopathy Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Cardiovascular phenotype Hypertrophic cardiomyopathy 1 Myosin storage myopathy Cardiomyopathy MYH7-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA014595	rs_200852418	15 SubmittersRCV000035889 RCV000294195 RCV000199253 RCV000352693 RCV000388586 RCV000619667 RCV001094205 RCV003320073 RCV001190176 RCV004534746 RCV001528229
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)	SNV Germline	Chr14:23417563	Conflicting classifications of pathogenicity	not specified MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Cardiomyopathy Condition: not provided Hypertrophic cardiomyopathy 1 Cardiovascular phenotype Myosin storage myopathy MYH7-related disorder	Criteria Provided Conflicting Classifications	CA014782	rs_45560242	9 SubmittersRCV000035901 RCV000260672 RCV000350069 RCV000355576 RCV000300774 RCV000777759 RCV000868550 RCV001094104 RCV002326729 RCV003320076 RCV004534748
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)	SNV Germline	Chr14:23415153	Likely pathogenic	Neuromuscular disease Primary dilated cardiomyopathy MYH7-related skeletal myopathy Condition: not provided Left ventricular noncompaction cardiomyopathy Primary dilated cardiomyopathy Myosin storage myopathy Hypertrophic cardiomyopathy	Reviewed By Expert Panel	CA016087	rs_397516248	9 SubmittersRCV000211834 RCV000132759 RCV000158700 RCV000207999 RCV000487436 RCV003320085 RCV000699484
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 Condition: not provided Cardiomyopathy Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA016148	rs_3729831	8 SubmittersRCV000035967 RCV000278217 RCV000335514 RCV000348305 RCV000404590 RCV000620704 RCV001094079 RCV001719729 RCV001190870 RCV003320086
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=)	SNV Germline	Chr14:23413831	Conflicting classifications of pathogenicity	not specified MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 Cardiomyopathy Myosin storage myopathy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA016408	rs_45523233	10 SubmittersRCV000035979 RCV000304407 RCV000361493 RCV000355690 RCV000402870 RCV001094150 RCV001190172 RCV003320089 RCV002345284 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 Hypertrophic cardiomyopathy 7	Criteria Provided Conflicting Classifications	CA021641	rs_397516348	11 SubmittersRCV000159221 RCV000628944 RCV001192353 RCV002054586 RCV004018790 RCV005625222
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	3 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, Dominant Left ventricular noncompaction cardiomyopathy Myofibrillar myopathy 4 Dilated Cardiomyopathy, Dominant Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1C	Criteria Provided Conflicting Classifications	CA133084	rs_71473272	14 SubmittersRCV000036849 RCV000307366 RCV000365510 RCV000273098 RCV000303793 RCV000618735 RCV001530015 RCV001293331
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 Arrhythmogenic right ventricular dysplasia 12 Cardiovascular phenotype Condition: not provided Naxos disease	Criteria Provided Conflicting Classifications	CA137193	rs_151178348	12 SubmittersRCV000039078 RCV000157253 RCV000463617 RCV001124559 RCV000621167 RCV000757414 RCV001123480
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 Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA138786	rs_371785683	10 SubmittersRCV000039892 RCV000157571 RCV000285166 RCV000324946 RCV000272411 RCV000342528 RCV000381839 RCV000471462 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 Cardiomyopathy Duchenne muscular dystrophy 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 Condition: not provided Hypertrophic cardiomyopathy Myosin storage myopathy Hypertrophic cardiomyopathy 1 Myopathy, myosin storage, autosomal recessive Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Primary dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA010981	rs_606231324	10 SubmittersRCV000148974 RCV000157356 RCV000578453 RCV000786168 RCV000466357 RCV003883132 RCV001281475
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=)	SNV Germline	Chr14:23419950	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Cardiomyopathy Hypertrophic cardiomyopathy 1 Cardiovascular phenotype Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA013881	rs_529700838	8 SubmittersRCV000126995 RCV000233427 RCV000353951 RCV000301315 RCV000265099 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 Cardiomyopathy Primary dilated cardiomyopathy Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy 4 Left ventricular noncompaction 10 MYBPC3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA014549	rs_368765949	12 SubmittersRCV000158241 RCV000201437 RCV000206843 RCV001179298 RCV001263457 RCV002453476 RCV002478419 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 Cardiomyopathy Cardiovascular phenotype See cases Arrhythmogenic right ventricular cardiomyopathy	Criteria Provided Conflicting Classifications	CA181189	rs_144261171	15 SubmittersRCV000154696 RCV000157163 RCV000229797 RCV000307432 RCV000393436 RCV000406154 RCV000725364 RCV001798502 RCV002362812 RCV001264391 RCV005359329
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu)	SNV Germline	Chr11:47349871	Conflicting classifications of pathogenicity	Condition: not provided Hypertrophic cardiomyopathy Cardiomyopathy Primary dilated cardiomyopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 4 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA015477	rs_727503216	11 SubmittersRCV000766311 RCV000801763 RCV000777987 RCV001263458 RCV004786404 RCV002345464
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)	SNV Germline	Chr11:47351457	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Cardiomyopathy Condition: not provided Hypertrophic cardiomyopathy 4 Left ventricular noncompaction 10 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA015780	rs_371140684	11 SubmittersRCV000151173 RCV000314127 RCV000350432 RCV000402678 RCV001170432 RCV003129791 RCV003224173 RCV002390324
NM_001368067.1(LDB3):c.456G>A (p.Ala152=)	SNV Germline	Chr10:86687180	Conflicting classifications of pathogenicity	not specified Dilated Cardiomyopathy, Dominant Myofibrillar myopathy 4 Myofibrillar Myopathy, Dominant Left ventricular noncompaction cardiomyopathy Dilated cardiomyopathy 1C LDB3-related disorder	Criteria Provided Conflicting Classifications	CA183520	rs_371708921	5 SubmittersRCV000155799 RCV000389071 RCV000270042 RCV000292985 RCV000332141 RCV001293330 RCV003945239
NM_002471.4(MYH6):c.831G>T (p.Gln277His)	SNV Germline	Chr14:23403415	Conflicting classifications of pathogenicity	not specified Condition: not provided Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Brugada syndrome Hypertrophic cardiomyopathy 1 Cardiomyopathy Hypertrophic cardiomyopathy 14 Cardiovascular phenotype Long QT syndrome Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA181127	rs_140660481	13 SubmittersRCV000154662 RCV000172034 RCV000999591 RCV001256735 RCV000769431 RCV001083211 RCV002408687 RCV003318356 RCV004765314
NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys)	SNV Germline	Chr14:23418304	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1S Condition: not provided Cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA014422	rs_45451303	10 SubmittersRCV000154773 RCV000677338 RCV000725742 RCV000769448 RCV002321639 RCV001315887 RCV005054162
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)	SNV Germline	Chr14:23422190	Conflicting classifications of pathogenicity	not specified Left ventricular noncompaction cardiomyopathy Dilated cardiomyopathy 1S MYH7-related skeletal myopathy Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy Cardiomyopathy Hypertrophic cardiomyopathy 1 Condition: not provided Cardiovascular phenotype Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA013466	rs_192722540	10 SubmittersRCV000151250 RCV000269104 RCV000277463 RCV000365939 RCV000326571 RCV000627137 RCV000777762 RCV001094089 RCV001704089 RCV002444618 RCV003320107
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 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004136	rs_730880084	6 SubmittersRCV000157199 RCV000215613 RCV000777708 RCV001308830 RCV003372622 RCV003998332
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_000257.4(MYH7):c.532G>A (p.Gly178Arg)	SNV Germline	Chr14:23431868	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Condition: not provided Hypertrophic cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA015959	rs_730880156	6 SubmittersRCV000157350 RCV000225729 RCV000464574 RCV000769466
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 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA011188	rs_730880551	6 SubmittersRCV000158117 RCV000853169 RCV002408712 RCV002516378 RCV005401343
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His)	SNV Germline	Chr11:47348487	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Left ventricular noncompaction cardiomyopathy Cardiomyopathy Hypertrophic cardiomyopathy MYBPC3-related disorder	Criteria Provided Conflicting Classifications	CA015732	rs_730880624	8 SubmittersRCV000158306 RCV000621974 RCV002053907 RCV001798531 RCV001208477 RCV004551359
NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val)	SNV Germline	Chr11:47350576	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Cardiomyopathy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA013936	rs_730880530	6 SubmittersRCV000335325 RCV000374801 RCV000280240 RCV001525480 RCV002321659 RCV002281062
NM_000257.4(MYH7):c.2526T>C (p.Ser842=)	SNV Germline	Chr14:23424922	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Dilated Cardiomyopathy, Dominant MYH7-related skeletal myopathy Cardiomyopathy Hypertrophic cardiomyopathy 1 Condition: not provided Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA012544	rs_554560162	10 SubmittersRCV000158491 RCV000382086 RCV000389957 RCV000241722 RCV000294051 RCV000287734 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 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis Keratosis palmoplantaris striata 2 Arrhythmogenic right ventricular dysplasia 8 Lethal acantholytic epidermolysis bullosa	Criteria Provided Conflicting Classifications	CA006920	rs_372393122	11 SubmittersRCV000181340 RCV000678705 RCV000766888 RCV001179588 RCV001227095 RCV002354472 RCV002485191 RCV005406903
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 Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA351759	rs_869025393	4 SubmittersRCV000208078 RCV002336577 RCV003997680 RCV001347430
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 Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Cardiomyopathy Myosin storage myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA048995	rs_765068619	7 SubmittersRCV000208437 RCV000281328 RCV000336260 RCV000372281 RCV000375775 RCV000296529 RCV001179548 RCV003320139 RCV002381715
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 Cardiovascular phenotype 6 conditions Left ventricular noncompaction cardiomyopathy Dilated cardiomyopathy 1G	Criteria Provided Multiple Submitters No Conflicts	CA130338	rs_764243269	11 SubmittersRCV000209814 RCV000786239 RCV001239700 RCV001798696 RCV002453754 RCV002503827 RCV002057055 RCV004764919
NM_007078.3(LDB3):c.689+3861C>T	SNV Germline	Chr10:86685664	Conflicting classifications of pathogenicity	not specified Myofibrillar myopathy 4 Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Myofibrillar Myopathy, Dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA5584773	rs_754704023	6 SubmittersRCV000219436 RCV000298515 RCV000301609 RCV000267983 RCV000360274 RCV001529058
NM_007078.3(LDB3):c.30C>G (p.Pro10=)	SNV Germline	Chr10:86668721	Conflicting classifications of pathogenicity	Myofibrillar Myopathy, Dominant Dilated cardiomyopathy 1C Left ventricular noncompaction cardiomyopathy Myofibrillar myopathy 4	Criteria Provided Conflicting Classifications	CA10629316	rs_766817285	2 SubmittersRCV000283535 RCV000291637 RCV000322185 RCV000383711
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 Dilated Cardiomyopathy, Dominant not specified Myofibrillar Myopathy, Dominant	Criteria Provided Conflicting Classifications	CA5584842	rs_754174632	3 SubmittersRCV000287151 RCV000322767 RCV000379731 RCV000600251 RCV000342117
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	Left ventricular noncompaction cardiomyopathy Scapuloperoneal myopathy MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 Condition: not provided Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA10634744	rs_200550717	2 SubmittersRCV000303437 RCV000316393 RCV000366623 RCV000360393 RCV000394482 RCV001112122 RCV001690036 RCV003320149
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)	SNV Germline	Chr14:23416049	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy MYH7-related skeletal myopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Cardiomyopathy Hypertrophic cardiomyopathy 1 Condition: not provided Cardiovascular phenotype Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA044195	rs_150241539	10 SubmittersRCV000289294 RCV000295116 RCV000346623 RCV000386925 RCV000769442 RCV001094082 RCV001530148 RCV004021581 RCV003320154
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 Myosin storage myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA042203	rs_578166720	9 SubmittersRCV000262797 RCV000318017 RCV000324167 RCV000372701 RCV000441186 RCV001094204 RCV001172071 RCV001189184 RCV003320157 RCV002328825
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 not specified	Criteria Provided Conflicting Classifications	CA10634753	rs_886050418	7 SubmittersRCV000266219 RCV000271995 RCV000302577 RCV000360417 RCV000366572 RCV000622162 RCV001184782 RCV001660631 RCV003320159 RCV005404493
NM_000257.4(MYH7):c.3148C>A (p.Arg1050=)	SNV Germline	Chr14:23422277	Conflicting classifications of pathogenicity	Dilated Cardiomyopathy, Dominant MYH7-related skeletal myopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 Myosin storage myopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA035886	rs_730880767	2 SubmittersRCV000302884 RCV000306255 RCV000363509 RCV000392947 RCV003320162 RCV005402906
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 Hypertrophic cardiomyopathy Cardiomyopathy Cardiovascular phenotype Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA034075	rs_727504407	6 SubmittersRCV000261564 RCV000315717 RCV000321468 RCV000374938 RCV000602384 RCV001485546 RCV001524259 RCV003165841 RCV003320169
NM_007078.3(LDB3):c.-23-32C>A	SNV Germline	Chr10:86668637	Conflicting classifications of pathogenicity	Myofibrillar myopathy 4 Left ventricular noncompaction cardiomyopathy Myofibrillar Myopathy, Dominant Dilated Cardiomyopathy, Dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA10636681	rs_34972863	3 SubmittersRCV000260607 RCV000322842 RCV000379799 RCV000353070 RCV002262952
NM_007078.3(LDB3):c.897-6834C>T	SNV Germline	Chr10:86699697	Conflicting classifications of pathogenicity	Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Myofibrillar myopathy 4 Myofibrillar Myopathy, Dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA10636699	rs_185972751	2 SubmittersRCV000303374 RCV000297716 RCV000396876 RCV000357141 RCV003422226
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.1458-9C>T	SNV Germline	Chr11:47342753	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Cardiomyopathy	Criteria Provided Conflicting Classifications	CA10639339	rs_886048379	2 SubmittersRCV000301384 RCV000358397 RCV000394792 RCV005402904
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 not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA042179	rs_375007425	6 SubmittersRCV000263851 RCV000318985 RCV000373599 RCV001525475 RCV003993925 RCV003298366
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=)	SNV Germline	Chr14:23415160	Conflicting classifications of pathogenicity	MYH7-related skeletal myopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 Cardiomyopathy Myosin storage myopathy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA046635	rs_777053791	6 SubmittersRCV000266902 RCV000279954 RCV000324458 RCV000372082 RCV001094139 RCV000777685 RCV003320151 RCV002348050 RCV005238885
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	MYH7-related skeletal myopathy Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 Cardiomyopathy Cardiovascular phenotype Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA030827	rs_145564868	5 SubmittersRCV000295852 RCV000330769 RCV000350729 RCV000385345 RCV001094120 RCV001180600 RCV002418165 RCV003320170
NM_000257.4(MYH7):c.1179C>T (p.Ala393=)	SNV Germline	Chr14:23429307	Conflicting classifications of pathogenicity	MYH7-related skeletal myopathy Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 Cardiomyopathy Condition: not provided Myosin storage myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA027786	rs_143293426	7 SubmittersRCV000261870 RCV000302404 RCV000324562 RCV000354294 RCV001094225 RCV001188872 RCV001705468 RCV003320173 RCV002338897
NM_000257.4(MYH7):c.1000-13G>T	SNV Germline	Chr14:23429926	Conflicting classifications of pathogenicity	MYH7-related skeletal myopathy Hypertrophic cardiomyopathy 1 Dilated cardiomyopathy 1S Left ventricular noncompaction cardiomyopathy Myosin storage myopathy Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA027362	rs_772831757	2 SubmittersRCV000314183 RCV000345388 RCV000383584 RCV000400365 RCV003320176 RCV001859876
NM_000257.4(MYH7):c.-62C>T	SNV Germline	Chr14:23434247	Conflicting classifications of pathogenicity	MYH7-related skeletal myopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 Dilated Cardiomyopathy, Dominant Condition: not provided Hypertrophic cardiomyopathy Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA10639982	rs_45566639	3 SubmittersRCV000290818 RCV000294289 RCV000345860 RCV000385187 RCV001597070 RCV001516184 RCV003320182
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 Condition: not provided Hypertrophic cardiomyopathy 1 Cardiomyopathy Myosin storage myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA043411	rs_570079347	8 SubmittersRCV000285796 RCV000334901 RCV000340776 RCV000391904 RCV000428502 RCV000861726 RCV001094083 RCV001170989 RCV003320156 RCV002338896
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp)	SNV Germline	Chr14:23423611	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy 1 MYH7-related skeletal myopathy Condition: not provided Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1S Cardiovascular phenotype Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA035299	rs_779973529	8 SubmittersRCV000290926 RCV000320862 RCV000378340 RCV000379421 RCV000489125 RCV000777729 RCV001364427 RCV001729526 RCV002436162 RCV003320163
NM_000257.4(MYH7):c.2955G>A (p.Leu985=)	SNV Germline	Chr14:23423691	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 1 Dilated cardiomyopathy 1S Left ventricular noncompaction cardiomyopathy MYH7-related skeletal myopathy Hypertrophic cardiomyopathy Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA10643996	rs_886050420	2 SubmittersRCV000327602 RCV000326485 RCV000357658 RCV000384448 RCV001416434 RCV003320165
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 Cardiomyopathy Condition: not provided Myosin storage myopathy Cardiovascular phenotype Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA039802	rs_768393069	7 SubmittersRCV000281839 RCV000330935 RCV000363030 RCV000385552 RCV001525477 RCV001540354 RCV003320160 RCV005404494 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 Myosin storage myopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10645054	rs_886050419	5 SubmittersRCV000314985 RCV000363689 RCV000391955 RCV000404127 RCV001188876 RCV002056397 RCV003320161 RCV003298373
NM_000257.4(MYH7):c.1671G>T (p.Leu557=)	SNV Germline	Chr14:23427802	Conflicting classifications of pathogenicity	Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy 1 Left ventricular noncompaction cardiomyopathy MYH7-related skeletal myopathy Hypertrophic cardiomyopathy Cardiomyopathy Myosin storage myopathy	Criteria Provided Conflicting Classifications	CA029085	rs_149386750	3 SubmittersRCV000264432 RCV000315094 RCV000318577 RCV000353594 RCV001434461 RCV005402907 RCV003320172
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 Myosin storage myopathy Hypertrophic cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10645061	rs_886050422	5 SubmittersRCV000270431 RCV000293198 RCV000362774 RCV000384805 RCV001188428 RCV003320174 RCV002056398 RCV005372282
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 Left ventricular noncompaction cardiomyopathy Myosin storage myopathy Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA10645070	rs_886050423	2 SubmittersRCV000335426 RCV000338844 RCV000388737 RCV000401618 RCV003320175 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 Condition: not provided Endocardial fibroelastosis	Criteria Provided Conflicting Classifications	CA10653864	rs_1057515818	3 SubmittersRCV000307696 RCV000350806 RCV000395947 RCV000841319 RCV000402701
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	Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Condition: not provided TTN-related disorder	Criteria Provided Conflicting Classifications	CA349462378	rs_1554008881	6 SubmittersRCV002062110 RCV002341535 RCV005223040 RCV005416116 RCV005431797 RCV004735656
NM_001386795.1(DTNA):c.68-7G>A	SNV Germline	Chr18:34765954	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Ventricular tachycardia Left ventricular noncompaction cardiomyopathy Left ventricular noncompaction 1 DTNA-related disorder not specified	Criteria Provided Conflicting Classifications	CA8935274	rs_372126412	4 SubmittersRCV000626807 RCV001469645 RCV003928040 RCV003317301
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)	SNV Germline	Chr2:178592056	Likely pathogenic	Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Dilated cardiomyopathy 1G Condition: not provided 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA349489453	rs_1559598775	6 SubmittersRCV000697657 RCV000850349 RCV002325400 RCV004760728 RCV004792399 RCV005223127
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg)	SNV Germline	Chr14:23431859	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Primary dilated cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 1 Cardiovascular phenotype MYH7-related skeletal myopathy Myopathy, myosin storage, autosomal recessive Cardiomyopathy Myosin storage myopathy Dilated cardiomyopathy 1S not specified	Criteria Provided Conflicting Classifications	CA046725	rs_760187215	6 SubmittersRCV000757956 RCV001207953 RCV003333105 RCV002343609 RCV003333104 RCV003333106 RCV003150341 RCV003333107 RCV003333103 RCV005240534
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	CA380318103	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	CA349401413	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	CA349660525	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	CA389050954	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	CA392720632	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	CA415182048	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	CA044562	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	CA393093935	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	CA393093905	rs_2151217037	1 SubmittersRCV002208729
NM_005477.3(HCN4):c.1454C>T (p.Ala485Val)	SNV Germline	Chr15:73329709	Pathogenic/Likely pathogenic	Left ventricular noncompaction cardiomyopathy Brugada syndrome 8 Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA393093865	rs_1454748709	4 SubmittersRCV002204524 RCV003505193 RCV004700690 RCV002391369
NM_000257.4(MYH7):c.1048T>A (p.Tyr350Asn)	SNV Germline	Chr14:23429865	Likely pathogenic	Left ventricular noncompaction cardiomyopathy	Criteria Provided Single Submitter	CA389051470	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	CA337998376	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	CA351512142	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	CA393091159	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
Cardiovascular phenotype
Cardiomyopathy
6 conditions
MYH7-related disorder
Left ventricular noncompaction cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA013034

rs_121913628

16 SubmittersRCV000015148 RCV000197762 RCV000158573 RCV000252292 RCV000770489 RCV000762922 RCV004532357 RCV002054441

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

SNV
Germline

Chr14:23431584

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA016715

rs_730880850

13 SubmittersRCV000015188 RCV000158758 RCV000214568 RCV000477002 RCV001542486 RCV001256089 RCV003298034 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
Left ventricular noncompaction cardiomyopathy
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Dilated Cardiomyopathy, Dominant
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA011214

rs_397515929

11 SubmittersRCV000035438 RCV000264440 RCV000356394 RCV000618801 RCV000299218 RCV000771259 RCV001727519

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

SNV
Germline

Chr11:47350048

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015191

rs_150291001

15 SubmittersRCV000035632 RCV000378313 RCV000621509 RCV000282724 RCV000338909 RCV000858618 RCV000769362

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

SNV
Germline

Chr14:23429295

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010337

rs_139506719

10 SubmittersRCV000035705 RCV000312213 RCV000297044 RCV000347165 RCV000398355 RCV000725616 RCV000584781 RCV000618918 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
Dilated Cardiomyopathy, Dominant
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy 1
Condition: not provided
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA011195

rs_201860580

12 SubmittersRCV000035745 RCV000280479 RCV000341444 RCV000376055 RCV000399496 RCV000621588 RCV000777768 RCV001094219 RCV001532237 RCV003320047

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

SNV
Germline

Chr14:23417668

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014595

rs_200852418

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

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

SNV
Germline

Chr14:23417563

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014782

rs_45560242

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

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

SNV
Germline

Chr14:23415153

Likely pathogenic

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

Reviewed By Expert Panel

CA016087

rs_397516248

9 SubmittersRCV000211834 RCV000132759 RCV000158700 RCV000207999 RCV000487436 RCV003320085 RCV000699484

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
Condition: not provided
Cardiomyopathy
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA016148

rs_3729831

8 SubmittersRCV000035967 RCV000278217 RCV000335514 RCV000348305 RCV000404590 RCV000620704 RCV001094079 RCV001719729 RCV001190870 RCV003320086

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

SNV
Germline

Chr14:23413831

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016408

rs_45523233

10 SubmittersRCV000035979 RCV000304407 RCV000361493 RCV000355690 RCV000402870 RCV001094150 RCV001190172 RCV003320089 RCV002345284 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
Hypertrophic cardiomyopathy 7

Criteria Provided
Conflicting Classifications

CA021641

rs_397516348

11 SubmittersRCV000159221 RCV000628944 RCV001192353 RCV002054586 RCV004018790 RCV005625222

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

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

Criteria Provided
Conflicting Classifications

CA133084

rs_71473272

14 SubmittersRCV000036849 RCV000307366 RCV000365510 RCV000273098 RCV000303793 RCV000618735 RCV001530015 RCV001293331

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
Arrhythmogenic right ventricular dysplasia 12
Cardiovascular phenotype
Condition: not provided
Naxos disease

Criteria Provided
Conflicting Classifications

CA137193

rs_151178348

12 SubmittersRCV000039078 RCV000157253 RCV000463617 RCV001124559 RCV000621167 RCV000757414 RCV001123480

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

Criteria Provided
Conflicting Classifications

CA138786

rs_371785683

10 SubmittersRCV000039892 RCV000157571 RCV000285166 RCV000324946 RCV000272411 RCV000342528 RCV000381839 RCV000471462 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
Cardiomyopathy
Duchenne muscular dystrophy
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
Condition: not provided
Hypertrophic cardiomyopathy
Myosin storage myopathy
Hypertrophic cardiomyopathy 1
Myopathy, myosin storage, autosomal recessive
Dilated cardiomyopathy 1S
MYH7-related skeletal myopathy
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA010981

rs_606231324

10 SubmittersRCV000148974 RCV000157356 RCV000578453 RCV000786168 RCV000466357 RCV003883132 RCV001281475

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

SNV
Germline

Chr14:23419950

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013881

rs_529700838

8 SubmittersRCV000126995 RCV000233427 RCV000353951 RCV000301315 RCV000265099 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
Cardiomyopathy
Primary dilated cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype
Hypertrophic cardiomyopathy 4
Left ventricular noncompaction 10
MYBPC3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA014549

rs_368765949

12 SubmittersRCV000158241 RCV000201437 RCV000206843 RCV001179298 RCV001263457 RCV002453476 RCV002478419 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
Cardiomyopathy
Cardiovascular phenotype
See cases
Arrhythmogenic right ventricular cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181189

rs_144261171

15 SubmittersRCV000154696 RCV000157163 RCV000229797 RCV000307432 RCV000393436 RCV000406154 RCV000725364 RCV001798502 RCV002362812 RCV001264391 RCV005359329

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

SNV
Germline

Chr11:47349871

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015477

rs_727503216

11 SubmittersRCV000766311 RCV000801763 RCV000777987 RCV001263458 RCV004786404 RCV002345464

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

SNV
Germline

Chr11:47351457

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015780

rs_371140684

11 SubmittersRCV000151173 RCV000314127 RCV000350432 RCV000402678 RCV001170432 RCV003129791 RCV003224173 RCV002390324

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

SNV
Germline

Chr10:86687180

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA183520

rs_371708921

5 SubmittersRCV000155799 RCV000389071 RCV000270042 RCV000292985 RCV000332141 RCV001293330 RCV003945239

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

SNV
Germline

Chr14:23403415

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA181127

rs_140660481

13 SubmittersRCV000154662 RCV000172034 RCV000999591 RCV001256735 RCV000769431 RCV001083211 RCV002408687 RCV003318356 RCV004765314

NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys)

SNV
Germline

Chr14:23418304

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1S
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA014422

rs_45451303

10 SubmittersRCV000154773 RCV000677338 RCV000725742 RCV000769448 RCV002321639 RCV001315887 RCV005054162

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

SNV
Germline

Chr14:23422190

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013466

rs_192722540

10 SubmittersRCV000151250 RCV000269104 RCV000277463 RCV000365939 RCV000326571 RCV000627137 RCV000777762 RCV001094089 RCV001704089 RCV002444618 RCV003320107

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
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004136

rs_730880084

6 SubmittersRCV000157199 RCV000215613 RCV000777708 RCV001308830 RCV003372622 RCV003998332

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_000257.4(MYH7):c.532G>A (p.Gly178Arg)

SNV
Germline

Chr14:23431868

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA015959

rs_730880156

6 SubmittersRCV000157350 RCV000225729 RCV000464574 RCV000769466

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
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA011188

rs_730880551

6 SubmittersRCV000158117 RCV000853169 RCV002408712 RCV002516378 RCV005401343

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

SNV
Germline

Chr11:47348487

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015732

rs_730880624

8 SubmittersRCV000158306 RCV000621974 RCV002053907 RCV001798531 RCV001208477 RCV004551359

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

SNV
Germline

Chr11:47350576

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA013936

rs_730880530

6 SubmittersRCV000335325 RCV000374801 RCV000280240 RCV001525480 RCV002321659 RCV002281062

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

SNV
Germline

Chr14:23424922

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012544

rs_554560162

10 SubmittersRCV000158491 RCV000382086 RCV000389957 RCV000241722 RCV000294051 RCV000287734 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
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Keratosis palmoplantaris striata 2
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa

Criteria Provided
Conflicting Classifications

CA006920

rs_372393122

11 SubmittersRCV000181340 RCV000678705 RCV000766888 RCV001179588 RCV001227095 RCV002354472 RCV002485191 RCV005406903

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

Criteria Provided
Conflicting Classifications

CA351759

rs_869025393

4 SubmittersRCV000208078 RCV002336577 RCV003997680 RCV001347430

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
Hypertrophic cardiomyopathy
Dilated Cardiomyopathy, Dominant
Cardiomyopathy
Myosin storage myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA048995

rs_765068619

7 SubmittersRCV000208437 RCV000281328 RCV000336260 RCV000372281 RCV000375775 RCV000296529 RCV001179548 RCV003320139 RCV002381715

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
Cardiovascular phenotype
6 conditions
Left ventricular noncompaction cardiomyopathy
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA130338

rs_764243269

11 SubmittersRCV000209814 RCV000786239 RCV001239700 RCV001798696 RCV002453754 RCV002503827 RCV002057055 RCV004764919

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

SNV
Germline

Chr10:86685664

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5584773

rs_754704023

6 SubmittersRCV000219436 RCV000298515 RCV000301609 RCV000267983 RCV000360274 RCV001529058

NM_007078.3(LDB3):c.30C>G (p.Pro10=)

SNV
Germline

Chr10:86668721

Conflicting classifications of pathogenicity

Myofibrillar Myopathy, Dominant
Dilated cardiomyopathy 1C
Left ventricular noncompaction cardiomyopathy
Myofibrillar myopathy 4

Criteria Provided
Conflicting Classifications

CA10629316

rs_766817285

2 SubmittersRCV000283535 RCV000291637 RCV000322185 RCV000383711

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
Dilated Cardiomyopathy, Dominant
not specified
Myofibrillar Myopathy, Dominant

Criteria Provided
Conflicting Classifications

CA5584842

rs_754174632

3 SubmittersRCV000287151 RCV000322767 RCV000379731 RCV000600251 RCV000342117

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

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

Criteria Provided
Conflicting Classifications

CA10634744

rs_200550717

2 SubmittersRCV000303437 RCV000316393 RCV000366623 RCV000360393 RCV000394482 RCV001112122 RCV001690036 RCV003320149

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

SNV
Germline

Chr14:23416049

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA044195

rs_150241539

10 SubmittersRCV000289294 RCV000295116 RCV000346623 RCV000386925 RCV000769442 RCV001094082 RCV001530148 RCV004021581 RCV003320154

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
Myosin storage myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA042203

rs_578166720

9 SubmittersRCV000262797 RCV000318017 RCV000324167 RCV000372701 RCV000441186 RCV001094204 RCV001172071 RCV001189184 RCV003320157 RCV002328825

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
not specified

Criteria Provided
Conflicting Classifications

CA10634753

rs_886050418

7 SubmittersRCV000266219 RCV000271995 RCV000302577 RCV000360417 RCV000366572 RCV000622162 RCV001184782 RCV001660631 RCV003320159 RCV005404493

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

SNV
Germline

Chr14:23422277

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA035886

rs_730880767

2 SubmittersRCV000302884 RCV000306255 RCV000363509 RCV000392947 RCV003320162 RCV005402906

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
Hypertrophic cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
Myosin storage myopathy

Criteria Provided
Conflicting Classifications

CA034075

rs_727504407

6 SubmittersRCV000261564 RCV000315717 RCV000321468 RCV000374938 RCV000602384 RCV001485546 RCV001524259 RCV003165841 RCV003320169

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

SNV
Germline

Chr10:86668637

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10636681

rs_34972863

3 SubmittersRCV000260607 RCV000322842 RCV000379799 RCV000353070 RCV002262952

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

SNV
Germline

Chr10:86699697

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10636699

rs_185972751

2 SubmittersRCV000303374 RCV000297716 RCV000396876 RCV000357141 RCV003422226

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.1458-9C>T

SNV
Germline

Chr11:47342753

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Dilated Cardiomyopathy, Dominant
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10639339

rs_886048379

2 SubmittersRCV000301384 RCV000358397 RCV000394792 RCV005402904

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
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA042179

rs_375007425

6 SubmittersRCV000263851 RCV000318985 RCV000373599 RCV001525475 RCV003993925 RCV003298366

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

SNV
Germline

Chr14:23415160

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA046635

rs_777053791

6 SubmittersRCV000266902 RCV000279954 RCV000324458 RCV000372082 RCV001094139 RCV000777685 RCV003320151 RCV002348050 RCV005238885

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

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

Criteria Provided
Conflicting Classifications

CA030827

rs_145564868

5 SubmittersRCV000295852 RCV000330769 RCV000350729 RCV000385345 RCV001094120 RCV001180600 RCV002418165 RCV003320170

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

SNV
Germline

Chr14:23429307

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA027786

rs_143293426

7 SubmittersRCV000261870 RCV000302404 RCV000324562 RCV000354294 RCV001094225 RCV001188872 RCV001705468 RCV003320173 RCV002338897

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

SNV
Germline

Chr14:23429926

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA027362

rs_772831757

2 SubmittersRCV000314183 RCV000345388 RCV000383584 RCV000400365 RCV003320176 RCV001859876

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

SNV
Germline

Chr14:23434247

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10639982

rs_45566639

3 SubmittersRCV000290818 RCV000294289 RCV000345860 RCV000385187 RCV001597070 RCV001516184 RCV003320182

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
Condition: not provided
Hypertrophic cardiomyopathy 1
Cardiomyopathy
Myosin storage myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA043411

rs_570079347

8 SubmittersRCV000285796 RCV000334901 RCV000340776 RCV000391904 RCV000428502 RCV000861726 RCV001094083 RCV001170989 RCV003320156 RCV002338896

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

SNV
Germline

Chr14:23423611

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA035299

rs_779973529

8 SubmittersRCV000290926 RCV000320862 RCV000378340 RCV000379421 RCV000489125 RCV000777729 RCV001364427 RCV001729526 RCV002436162 RCV003320163

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

SNV
Germline

Chr14:23423691

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10643996

rs_886050420

2 SubmittersRCV000327602 RCV000326485 RCV000357658 RCV000384448 RCV001416434 RCV003320165

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
Cardiomyopathy
Condition: not provided
Myosin storage myopathy
Cardiovascular phenotype
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA039802

rs_768393069

7 SubmittersRCV000281839 RCV000330935 RCV000363030 RCV000385552 RCV001525477 RCV001540354 RCV003320160 RCV005404494 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
Myosin storage myopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10645054

rs_886050419

5 SubmittersRCV000314985 RCV000363689 RCV000391955 RCV000404127 RCV001188876 RCV002056397 RCV003320161 RCV003298373

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

SNV
Germline

Chr14:23427802

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA029085

rs_149386750

3 SubmittersRCV000264432 RCV000315094 RCV000318577 RCV000353594 RCV001434461 RCV005402907 RCV003320172

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
Myosin storage myopathy
Hypertrophic cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10645061

rs_886050422

5 SubmittersRCV000270431 RCV000293198 RCV000362774 RCV000384805 RCV001188428 RCV003320174 RCV002056398 RCV005372282

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
Left ventricular noncompaction cardiomyopathy
Myosin storage myopathy
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10645070

rs_886050423

2 SubmittersRCV000335426 RCV000338844 RCV000388737 RCV000401618 RCV003320175 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
Condition: not provided
Endocardial fibroelastosis

Criteria Provided
Conflicting Classifications

CA10653864

rs_1057515818

3 SubmittersRCV000307696 RCV000350806 RCV000395947 RCV000841319 RCV000402701

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

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

Criteria Provided
Conflicting Classifications

CA349462378

rs_1554008881

6 SubmittersRCV002062110 RCV002341535 RCV005223040 RCV005416116 RCV005431797 RCV004735656

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

SNV
Germline

Chr18:34765954

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8935274

rs_372126412

4 SubmittersRCV000626807 RCV001469645 RCV003928040 RCV003317301

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

SNV
Germline

Chr2:178592056

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA349489453

rs_1559598775

6 SubmittersRCV000697657 RCV000850349 RCV002325400 RCV004760728 RCV004792399 RCV005223127

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

SNV
Germline

Chr14:23431859

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 1
Cardiovascular phenotype
MYH7-related skeletal myopathy
Myopathy, myosin storage, autosomal recessive
Cardiomyopathy
Myosin storage myopathy
Dilated cardiomyopathy 1S
not specified

Criteria Provided
Conflicting Classifications

CA046725

rs_760187215

6 SubmittersRCV000757956 RCV001207953 RCV003333105 RCV002343609 RCV003333104 RCV003333106 RCV003150341 RCV003333107 RCV003333103 RCV005240534

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

CA380318103

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

CA349401413

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

CA349660525

rs_1575799625