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 Condition: not provided Hypertrophic cardiomyopathy Cardiovascular phenotype 6 conditions Cardiomyopathy Left ventricular noncompaction cardiomyopathy MYH7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA013034	rs_121913628	16 SubmittersRCV000015148 RCV000158573 RCV000197762 RCV000252292 RCV000762922 RCV000770489 RCV002054441 RCV004532357
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 Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy 1 Cardiovascular phenotype Dilated cardiomyopathy 1S	Criteria Provided Multiple Submitters No Conflicts	CA016715	rs_730880850	13 SubmittersRCV000015188 RCV000158758 RCV000214568 RCV000477002 RCV001256089 RCV001542486 RCV003298034 RCV004799177
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 Dilated cardiomyopathy 1S	Reviewed By Expert Panel	CA016087	rs_397516248	10 SubmittersRCV000132759 RCV000158700 RCV000211834 RCV000207999 RCV000487436 RCV000699484 RCV003320085 RCV006704513
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_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)	SNV Germline	Chr10:110821356	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Dilated cardiomyopathy 1DD Cardiomyopathy Cardiovascular phenotype Left ventricular noncompaction cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA133338	rs_397516607	9 SubmittersRCV000036973 RCV000497300 RCV000647156 RCV000769275 RCV002433499 RCV002054621
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 Condition: not provided Arrhythmogenic right ventricular cardiomyopathy Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Cardiomyopathy Cardiovascular phenotype Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic right ventricular dysplasia 8 DSP-related disorder Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	Criteria Provided Conflicting Classifications	CA004444	rs_28763965	26 SubmittersRCV000038041 RCV000157197 RCV000148477 RCV000172538 RCV000238741 RCV000368914 RCV000397854 RCV000771820 RCV000622004 RCV001085365 RCV001095209 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 Arrhythmogenic right ventricular dysplasia 12 Naxos disease Cardiovascular phenotype Condition: not provided Naxos disease Arrhythmogenic right ventricular dysplasia 12	Criteria Provided Conflicting Classifications	CA137193	rs_151178348	13 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 Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Autosomal recessive limb-girdle muscular dystrophy type 2J Tibial muscular dystrophy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA138786	rs_371785683	12 SubmittersRCV000039892 RCV000157571 RCV000285166 RCV000272411 RCV000324946 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 Dystrophin deficiency Duchenne muscular dystrophy Cardiomyopathy DMD-related disorder	Criteria Provided Conflicting Classifications	CA285523	rs_72468699	7 SubmittersRCV000157166 RCV000157165 RCV000243647 RCV000869409 RCV001168118 RCV001719836 RCV001835674 RCV004542772
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)	SNV Germline	Chr1:201364327	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1DD Hypertrophic cardiomyopathy 2 Dilated cardiomyopathy 1D Cardiomyopathy, familial restrictive, 3 not specified Cardiomyopathy Dilated cardiomyopathy 1D Left ventricular noncompaction cardiomyopathy Primary dilated cardiomyopathy Myocarditis Hypertrophic cardiomyopathy 2	Criteria Provided Conflicting Classifications	CA004554	rs_483352832	9 SubmittersRCV000119344 RCV000646060 RCV000612990 RCV000777699 RCV001781461 RCV002055314 RCV002055315 RCV006635439
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 Left ventricular noncompaction cardiomyopathy Primary dilated cardiomyopathy Cardiovascular phenotype Left ventricular noncompaction 10 Hypertrophic cardiomyopathy 4 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 Condition: not provided See cases Cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy	Criteria Provided Conflicting Classifications	CA181189	rs_144261171	15 SubmittersRCV000154696 RCV000157163 RCV000229797 RCV000307432 RCV000393436 RCV000725364 RCV001264391 RCV001798502 RCV002362812 RCV005359329
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu)	SNV Germline	Chr11:47349871	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Primary dilated cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy 4	Criteria Provided Conflicting Classifications	CA015477	rs_727503216	11 SubmittersRCV000777987 RCV000766311 RCV000801763 RCV001263458 RCV002345464 RCV004786404
NM_002471.4(MYH6):c.831G>T (p.Gln277His)	SNV Germline	Chr14:23403415	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Brugada syndrome Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 Cardiovascular phenotype Long QT syndrome Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA181127	rs_140660481	14 SubmittersRCV000154662 RCV000172034 RCV000769431 RCV000999591 RCV001083211 RCV001256735 RCV002408687 RCV003318356 RCV004765314
NM_000257.4(MYH7):c.5690G>A (p.Arg1897His)	SNV Germline	Chr14:23413859	Conflicting classifications of pathogenicity	not specified Condition: not provided Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Cardiomyopathy Cardiovascular phenotype Myosin storage myopathy MYH7-related skeletal myopathy Myopathy, myosin storage, autosomal recessive Hypertrophic cardiomyopathy 1 Dilated cardiomyopathy 1S Left ventricular noncompaction	Criteria Provided Conflicting Classifications	CA016369	rs_727503240	13 SubmittersRCV000151233 RCV000158713 RCV000477566 RCV001254747 RCV001526079 RCV002345469 RCV005003493 RCV004786405
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 Hypertrophic cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA014422	rs_45451303	11 SubmittersRCV000154773 RCV000677338 RCV000725742 RCV000769448 RCV001315887 RCV002321639 RCV005054162
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_007078.3(LDB3):c.466G>A (p.Ala156Thr)	SNV Germline	Chr10:86681580	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy not specified Myofibrillar myopathy 4 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA308609	rs_200596619	13 SubmittersRCV000157287 RCV000183527 RCV000530438 RCV001530010 RCV002336344
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 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA015959	rs_730880156	7 SubmittersRCV000157350 RCV000225729 RCV000464574 RCV000769466 RCV006342134
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 Hypertrophic cardiomyopathy Cardiomyopathy Left ventricular noncompaction cardiomyopathy MYBPC3-related disorder Hypertrophic cardiomyopathy 4	Criteria Provided Conflicting Classifications	CA015732	rs_730880624	9 SubmittersRCV000158306 RCV000621974 RCV001208477 RCV001798531 RCV002053907 RCV004551359 RCV006257279
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 Lethal acantholytic epidermolysis bullosa Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Keratosis palmoplantaris striata 2 Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	Criteria Provided Conflicting Classifications	CA006920	rs_372393122	11 SubmittersRCV000181340 RCV000678705 RCV000766888 RCV001179588 RCV001227095 RCV002354472 RCV002485191 RCV005406903
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln)	SNV Germline	Chr1:236718930	Conflicting classifications of pathogenicity	Condition: not provided Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype Dilated cardiomyopathy 1AA Primary familial hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy Dilated cardiomyopathy 1AA Myopathy, congenital, with structured cores and z-line abnormalities Myopathy, distal, 6, adult-onset, autosomal dominant Dilated cardiomyopathy 1AA	Criteria Provided Conflicting Classifications	CA335005	rs_777124854	7 SubmittersRCV000183246 RCV000208364 RCV000250031 RCV000686874 RCV000853161 RCV002500547 RCV006713277
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 Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA069479	rs_140246538	5 SubmittersRCV000208210 RCV000620908 RCV001484119 RCV005893799
NM_032578.4(MYPN):c.757G>C (p.Gly253Arg)	SNV Germline	Chr10:68122195	Conflicting classifications of pathogenicity	Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Dilated cardiomyopathy 1KK Condition: not provided Dilated cardiomyopathy 1KK MYPN-related myopathy	Criteria Provided Conflicting Classifications	CA070868	rs_201983087	9 SubmittersRCV000208333 RCV000618176 RCV000691793 RCV001589099 RCV002485363
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	5 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 Left ventricular noncompaction cardiomyopathy Cardiomyopathy Cardiovascular phenotype 6 conditions Dilated cardiomyopathy 1G	Criteria Provided Multiple Submitters No Conflicts	CA130338	rs_764243269	12 SubmittersRCV000209814 RCV000786239 RCV001239700 RCV002057055 RCV001798696 RCV002453754 RCV002503827 RCV004764919
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 TTN-related disorder Dilated cardiomyopathy 1G Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA349462378	rs_1554008881	6 SubmittersRCV002062110 RCV002341535 RCV004735656 RCV005416116 RCV005431797 RCV005223040
NM_001386795.1(DTNA):c.68-7G>A	SNV Germline	Chr18:34765954	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Left ventricular noncompaction cardiomyopathy Ventricular tachycardia 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	Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Left ventricular noncompaction cardiomyopathy Cardiovascular phenotype Dilated cardiomyopathy 1G 6 conditions Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349489453	rs_1559598775	6 SubmittersRCV000697657 RCV000850349 RCV002325400 RCV004760728 RCV005223127 RCV004792399
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 Cardiovascular phenotype Cardiomyopathy Myosin storage myopathy Dilated cardiomyopathy 1S Hypertrophic cardiomyopathy 1 MYH7-related skeletal myopathy Myopathy, myosin storage, autosomal recessive not specified	Criteria Provided Conflicting Classifications	CA046725	rs_760187215	6 SubmittersRCV000757956 RCV001207953 RCV002343609 RCV003150341 RCV003333107 RCV003333103 RCV003333105 RCV003333104 RCV003333106 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_001103.4(ACTN2):c.574C>T (p.Arg192Ter)	SNV Germline	Chr1:236727715	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy Dilated cardiomyopathy 1AA Left ventricular noncompaction cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA345375471	rs_1253211384	3 SubmittersRCV000817965 RCV000853129 RCV002462182
NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter)	SNV Germline	Chr2:178528367	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Left ventricular noncompaction cardiomyopathy Condition: not provided 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA349401413	rs_1477669354	4 SubmittersRCV000794012 RCV002061140 RCV002255166 RCV004796315
NM_001267550.2(TTN):c.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 HCN4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA393093935	rs_121908411	4 SubmittersRCV001246540 RCV001254756 RCV002393656 RCV005866892
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 Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA393093865	rs_1454748709	4 SubmittersRCV002204524 RCV003505193 RCV002391369 RCV004700690
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
Condition: not provided
Hypertrophic cardiomyopathy
Cardiovascular phenotype
6 conditions
Cardiomyopathy
Left ventricular noncompaction cardiomyopathy
MYH7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA013034

rs_121913628

16 SubmittersRCV000015148 RCV000158573 RCV000197762 RCV000252292 RCV000762922 RCV000770489 RCV002054441 RCV004532357

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
Left ventricular noncompaction cardiomyopathy
Hypertrophic cardiomyopathy 1
Cardiovascular phenotype
Dilated cardiomyopathy 1S

Criteria Provided
Multiple Submitters
No Conflicts

CA016715

rs_730880850

13 SubmittersRCV000015188 RCV000158758 RCV000214568 RCV000477002 RCV001256089 RCV001542486 RCV003298034 RCV004799177

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
Dilated cardiomyopathy 1S

Reviewed By Expert Panel

CA016087

rs_397516248

10 SubmittersRCV000132759 RCV000158700 RCV000211834 RCV000207999 RCV000487436 RCV000699484 RCV003320085 RCV006704513

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_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)

SNV
Germline

Chr10:110821356

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1DD
Cardiomyopathy
Cardiovascular phenotype
Left ventricular noncompaction cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA133338

rs_397516607

9 SubmittersRCV000036973 RCV000497300 RCV000647156 RCV000769275 RCV002433499 RCV002054621

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
Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular dysplasia 8
DSP-related disorder
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA004444

rs_28763965

26 SubmittersRCV000038041 RCV000157197 RCV000148477 RCV000172538 RCV000238741 RCV000368914 RCV000397854 RCV000771820 RCV000622004 RCV001085365 RCV001095209 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
Arrhythmogenic right ventricular dysplasia 12
Naxos disease
Cardiovascular phenotype
Condition: not provided
Naxos disease
Arrhythmogenic right ventricular dysplasia 12

Criteria Provided
Conflicting Classifications

CA137193

rs_151178348

13 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
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Autosomal recessive limb-girdle muscular dystrophy type 2J
Tibial muscular dystrophy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138786

rs_371785683

12 SubmittersRCV000039892 RCV000157571 RCV000285166 RCV000272411 RCV000324946 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
Dystrophin deficiency
Duchenne muscular dystrophy
Cardiomyopathy
DMD-related disorder

Criteria Provided
Conflicting Classifications

CA285523

rs_72468699

7 SubmittersRCV000157166 RCV000157165 RCV000243647 RCV000869409 RCV001168118 RCV001719836 RCV001835674 RCV004542772

NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)

SNV
Germline

Chr1:201364327

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1DD
Hypertrophic cardiomyopathy 2
Dilated cardiomyopathy 1D
Cardiomyopathy, familial restrictive, 3
not specified
Cardiomyopathy
Dilated cardiomyopathy 1D
Left ventricular noncompaction cardiomyopathy
Primary dilated cardiomyopathy
Myocarditis
Hypertrophic cardiomyopathy 2

Criteria Provided
Conflicting Classifications

CA004554

rs_483352832

9 SubmittersRCV000119344 RCV000646060 RCV000612990 RCV000777699 RCV001781461 RCV002055314 RCV002055315 RCV006635439

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
Left ventricular noncompaction cardiomyopathy
Primary dilated cardiomyopathy
Cardiovascular phenotype
Left ventricular noncompaction 10
Hypertrophic cardiomyopathy 4
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
Condition: not provided
See cases
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular cardiomyopathy

Criteria Provided
Conflicting Classifications

CA181189

rs_144261171

15 SubmittersRCV000154696 RCV000157163 RCV000229797 RCV000307432 RCV000393436 RCV000725364 RCV001264391 RCV001798502 RCV002362812 RCV005359329

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

SNV
Germline

Chr11:47349871

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015477

rs_727503216

11 SubmittersRCV000777987 RCV000766311 RCV000801763 RCV001263458 RCV002345464 RCV004786404

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

SNV
Germline

Chr14:23403415

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA181127

rs_140660481

14 SubmittersRCV000154662 RCV000172034 RCV000769431 RCV000999591 RCV001083211 RCV001256735 RCV002408687 RCV003318356 RCV004765314

NM_000257.4(MYH7):c.5690G>A (p.Arg1897His)

SNV
Germline

Chr14:23413859

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016369

rs_727503240

13 SubmittersRCV000151233 RCV000158713 RCV000477566 RCV001254747 RCV001526079 RCV002345469 RCV005003493 RCV004786405

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
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA014422

rs_45451303

11 SubmittersRCV000154773 RCV000677338 RCV000725742 RCV000769448 RCV001315887 RCV002321639 RCV005054162

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_007078.3(LDB3):c.466G>A (p.Ala156Thr)

SNV
Germline

Chr10:86681580

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
not specified
Myofibrillar myopathy 4
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA308609

rs_200596619

13 SubmittersRCV000157287 RCV000183527 RCV000530438 RCV001530010 RCV002336344

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
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA015959

rs_730880156

7 SubmittersRCV000157350 RCV000225729 RCV000464574 RCV000769466 RCV006342134

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
Hypertrophic cardiomyopathy
Cardiomyopathy
Left ventricular noncompaction cardiomyopathy
MYBPC3-related disorder
Hypertrophic cardiomyopathy 4

Criteria Provided
Conflicting Classifications

CA015732

rs_730880624

9 SubmittersRCV000158306 RCV000621974 RCV001208477 RCV001798531 RCV002053907 RCV004551359 RCV006257279

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
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Keratosis palmoplantaris striata 2
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

Criteria Provided
Conflicting Classifications

CA006920

rs_372393122

11 SubmittersRCV000181340 RCV000678705 RCV000766888 RCV001179588 RCV001227095 RCV002354472 RCV002485191 RCV005406903

NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln)

SNV
Germline

Chr1:236718930

Conflicting classifications of pathogenicity

Condition: not provided
Primary familial hypertrophic cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1AA
Primary familial hypertrophic cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Dilated cardiomyopathy 1AA
Myopathy, congenital, with structured cores and z-line abnormalities
Myopathy, distal, 6, adult-onset, autosomal dominant
Dilated cardiomyopathy 1AA

Criteria Provided
Conflicting Classifications

CA335005

rs_777124854

7 SubmittersRCV000183246 RCV000208364 RCV000250031 RCV000686874 RCV000853161 RCV002500547 RCV006713277

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
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA069479

rs_140246538

5 SubmittersRCV000208210 RCV000620908 RCV001484119 RCV005893799

NM_032578.4(MYPN):c.757G>C (p.Gly253Arg)

SNV
Germline

Chr10:68122195

Conflicting classifications of pathogenicity

Left ventricular noncompaction cardiomyopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1KK
Condition: not provided
Dilated cardiomyopathy 1KK
MYPN-related myopathy

Criteria Provided
Conflicting Classifications

CA070868

rs_201983087

9 SubmittersRCV000208333 RCV000618176 RCV000691793 RCV001589099 RCV002485363

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

5 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
Left ventricular noncompaction cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
6 conditions
Dilated cardiomyopathy 1G

Criteria Provided
Multiple Submitters
No Conflicts

CA130338

rs_764243269

12 SubmittersRCV000209814 RCV000786239 RCV001239700 RCV002057055 RCV001798696 RCV002453754 RCV002503827 RCV004764919

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

Criteria Provided
Conflicting Classifications

CA349462378

rs_1554008881

6 SubmittersRCV002062110 RCV002341535 RCV004735656 RCV005416116 RCV005431797 RCV005223040

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

SNV
Germline

Chr18:34765954

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Ventricular tachycardia
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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA349489453

rs_1559598775

6 SubmittersRCV000697657 RCV000850349 RCV002325400 RCV004760728 RCV005223127 RCV004792399

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

Criteria Provided
Conflicting Classifications

CA046725

rs_760187215

6 SubmittersRCV000757956 RCV001207953 RCV002343609 RCV003150341 RCV003333107 RCV003333103 RCV003333105 RCV003333104 RCV003333106 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_001103.4(ACTN2):c.574C>T (p.Arg192Ter)

SNV
Germline

Chr1:236727715

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
Dilated cardiomyopathy 1AA
Left ventricular noncompaction cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA345375471

rs_1253211384

3 SubmittersRCV000817965 RCV000853129 RCV002462182

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

SNV
Germline

Chr2:178528367

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA349401413

rs_1477669354

4 SubmittersRCV000794012 RCV002061140 RCV002255166 RCV004796315

NM_001267550.2(TTN):c.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
HCN4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA393093935

rs_121908411

4 SubmittersRCV001246540 RCV001254756 RCV002393656 RCV005866892

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
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA393093865

rs_1454748709

4 SubmittersRCV002204524 RCV003505193 RCV002391369 RCV004700690

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