Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)	SNV Germline	Chr14:23392968	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 not specified Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Hemiplegia Migraine Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA123768	rs_267606904	11 SubmittersRCV000015212 RCV000037469 RCV000171836 RCV000414926 RCV000845359 RCV002321482
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)	SNV Germline	Chr14:23393437	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1EE not specified Primary dilated cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy 14 Condition: not provided Cardiomyopathy Wolff-Parkinson-White pattern Primary dilated cardiomyopathy Ventricular tachycardia Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA134311	rs_143978652	22 SubmittersRCV000015214 RCV000037468 RCV000172563 RCV000244450 RCV000201499 RCV000723680 RCV000770446 RCV000656144 RCV000852696 RCV004765306
NM_002471.4(MYH6):c.1252G>A (p.Val418Met)	SNV Germline	Chr14:23400867	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA134230	rs_147606900	12 SubmittersRCV000037439 RCV000172033 RCV000254507 RCV000852697 RCV001088230
NM_002471.4(MYH6):c.1449C>T (p.Asn483=)	SNV Germline	Chr14:23400388	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy 14 Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA134242	rs_145447555	10 SubmittersRCV000037443 RCV000229778 RCV000769422 RCV001725948
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val)	SNV Germline	Chr14:23396312	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Dilated cardiomyopathy 1A Hypertrophic cardiomyopathy 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA134273	rs_75487328	6 SubmittersRCV000037454 RCV000618074 RCV001256734 RCV001365449 RCV005089357
NM_002471.4(MYH6):c.2579G>A (p.Arg860His)	SNV Germline	Chr14:23394174	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Cardiomyopathy Condition: not provided Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA134283	rs_115845031	14 SubmittersRCV000037458 RCV000242007 RCV000770454 RCV000845565 RCV001082478 RCV004765312
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys)	SNV Germline	Chr14:23394139	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy 14 Cardiomyopathy Primary dilated cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA134292	rs_201193346	7 SubmittersRCV000037461 RCV000462013 RCV001170242 RCV001293069 RCV001568077 RCV002433502
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)	SNV Germline	Chr14:23405680	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Hypertrophic cardiomyopathy 14 Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 1 Atrial septal defect 3 Sick sinus syndrome 3, susceptibility to Hypertrophic cardiomyopathy 14 Condition: not provided Cardiomyopathy Hypertrophic cardiomyopathy 1 Atrial septal defect 3	Criteria Provided Conflicting Classifications	CA134302	rs_140596256	14 SubmittersRCV000037465 RCV000252583 RCV000467043 RCV000765154 RCV000761867 RCV000770460 RCV001256736 RCV002470732
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly)	SNV Germline	Chr14:23392964	Conflicting classifications of pathogenicity	not specified Condition: not provided Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA134313	rs_145508517	7 SubmittersRCV000037470 RCV000172562 RCV001088527 RCV002321509
NM_002471.4(MYH6):c.3860-15T>G	SNV Germline	Chr14:23389526	Conflicting classifications of pathogenicity	not specified Condition: not provided Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA134353	rs_200883903	8 SubmittersRCV000037484 RCV001701649 RCV002054663
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln)	SNV Germline	Chr14:23387778	Conflicting classifications of pathogenicity	not specified Primary dilated cardiomyopathy Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 1 Atrial septal defect 3 Sick sinus syndrome 3, susceptibility to Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 14 Primary familial dilated cardiomyopathy Condition: not provided Cardiovascular phenotype MYH6-related disorder	Criteria Provided Conflicting Classifications	CA134408	rs_199936506	10 SubmittersRCV000037507 RCV000172022 RCV000515370 RCV000466575 RCV000623195 RCV001659959 RCV002336131 RCV004534789
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)	SNV Germline	Chr14:23384714	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy 14 Cardiovascular phenotype Primary familial hypertrophic cardiomyopathy Cardiomyopathy Condition: not provided Atrial septal defect 3 Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 Sick sinus syndrome 3, susceptibility to	Criteria Provided Conflicting Classifications	CA134466	rs_397516775	11 SubmittersRCV000037529 RCV000467764 RCV000619201 RCV000845414 RCV000770426 RCV001699024 RCV002482989
NM_002471.4(MYH6):c.5400C>T (p.Asp1800=)	SNV Germline	Chr14:23384607	Conflicting classifications of pathogenicity	not specified Condition: not provided Hypertrophic cardiomyopathy 14 MYH6-related disorder	Criteria Provided Conflicting Classifications	CA134472	rs_144329079	10 SubmittersRCV000037531 RCV000724395 RCV001087566 RCV004534791
NM_002471.4(MYH6):c.5662-6C>T	SNV Germline	Chr14:23382568	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA134481	rs_183733802	3 SubmittersRCV000037534 RCV001464365
NM_002471.4(MYH6):c.643-5C>T	SNV Germline	Chr14:23404393	Conflicting classifications of pathogenicity	not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Cardiovascular phenotype Cardiomyopathy Condition: not provided MYH6-related disorder	Criteria Provided Conflicting Classifications	CA134491	rs_199859986	15 SubmittersRCV000037538 RCV000157345 RCV000230504 RCV000251059 RCV000769432 RCV001528652 RCV004541110
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn)	SNV Germline	Chr14:23403422	Conflicting classifications of pathogenicity	not specified Primary dilated cardiomyopathy Primary familial dilated cardiomyopathy Hypertrophic cardiomyopathy 14 Condition: not provided Cardiovascular phenotype MYH6-related disorder	Criteria Provided Conflicting Classifications	CA134496	rs_201327273	9 SubmittersRCV000037541 RCV000171837 RCV000624229 RCV000989184 RCV001572348 RCV002426562 RCV004534793
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)	SNV Germline	Chr14:23398856	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy not specified Condition: not provided Hypertrophic cardiomyopathy 14 Cardiomyopathy Cardiovascular phenotype MYH6-related disorder	Criteria Provided Conflicting Classifications	CA176961	rs_142992009	19 SubmittersRCV000143919 RCV000151221 RCV000172566 RCV000989183 RCV001798462 RCV002408642 RCV004532623
NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu)	SNV Germline	Chr14:23387584	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy 14 Cardiovascular phenotype Primary familial hypertrophic cardiomyopathy Cardiomyopathy Condition: not provided Hypertrophic cardiomyopathy MYH6-related disorder	Criteria Provided Conflicting Classifications	CA181318	rs_34330111	9 SubmittersRCV000154756 RCV000228396 RCV000620512 RCV000623367 RCV000852692 RCV001719961 RCV004765315 RCV004544411
NM_002471.4(MYH6):c.3343-3C>A	SNV Germline	Chr14:23390449	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA184823	rs_565446762	6 SubmittersRCV000156432 RCV001529066 RCV002321651 RCV002515019
NM_002471.4(MYH6):c.2464G>A (p.Ala822Thr)	SNV Germline	Chr14:23394289	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA183535	rs_138419275	4 SubmittersRCV000155804 RCV000647085 RCV004019865
NM_002471.4(MYH6):c.2071G>A (p.Val691Ile)	SNV Germline	Chr14:23397060	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy 14 Cardiovascular phenotype Cardiomyopathy Condition: not provided MYH6-related disorder	Criteria Provided Conflicting Classifications	CA176958	rs_148915045	11 SubmittersRCV000151220 RCV000457574 RCV000619683 RCV000769419 RCV001701688 RCV004544355
NM_002471.4(MYH6):c.1582-7C>T	SNV Germline	Chr14:23399044	Conflicting classifications of pathogenicity	not specified Condition: not provided Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA176964	rs_374941865	3 SubmittersRCV000151222 RCV000232632 RCV002516036
NM_002471.4(MYH6):c.1132G>A (p.Gly378Ser)	SNV Germline	Chr14:23402473	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Hypertrophic cardiomyopathy 14 Cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA181340	rs_148962966	9 SubmittersRCV000154766 RCV000241733 RCV000464311 RCV001170246 RCV001293155 RCV001293167 RCV001697081
NM_002471.4(MYH6):c.245C>T (p.Pro82Leu)	SNV Germline	Chr14:23405727	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA176969	rs_529427223	3 SubmittersRCV000151225 RCV001041444 RCV002453489
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)	SNV Germline	Chr14:23386369	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA181315	rs_143048583	11 SubmittersRCV000154755 RCV000617571 RCV000724141 RCV001089380
NM_002471.4(MYH6):c.4360-7C>G	SNV Germline	Chr14:23387930	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy 14 Condition: not provided MYH6-related disorder	Criteria Provided Conflicting Classifications	CA181321	rs_58949384	6 SubmittersRCV000154757 RCV000647092 RCV001657880 RCV004734725
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys)	SNV Germline	Chr14:23390281	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Atrial septal defect 3 Sick sinus syndrome 3, susceptibility to Cardiovascular phenotype Hypertrophic cardiomyopathy 14 Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA176949	rs_727503236	7 SubmittersRCV000151217 RCV000477774 RCV000617980 RCV000860938 RCV001171186 RCV001561277
NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn)	SNV Germline	Chr14:23392943	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Cardiovascular phenotype Atrial septal defect 3 Sick sinus syndrome 3, susceptibility to Hypertrophic cardiomyopathy 1 Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA183532	rs_375169402	5 SubmittersRCV000155803 RCV000497746 RCV001309719 RCV002444641 RCV002498758
NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys)	SNV Germline	Chr14:23398917	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy 14 Primary familial hypertrophic cardiomyopathy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA181333	rs_149650190	6 SubmittersRCV000154763 RCV000460717 RCV000845511 RCV002399544 RCV005089748
NM_002471.4(MYH6):c.831G>T (p.Gln277His)	SNV Germline	Chr14:23403415	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Brugada syndrome Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 Cardiovascular phenotype Long QT syndrome Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA181127	rs_140660481	13 SubmittersRCV000154662 RCV000172034 RCV000769431 RCV000999591 RCV001083211 RCV001256735 RCV002408687 RCV003318356 RCV004765314
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)	SNV Germline	Chr14:23388898	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy not specified Condition: not provided Hypertrophic cardiomyopathy 14 Cardiomyopathy Cardiovascular phenotype MYH6-related disorder	Criteria Provided Conflicting Classifications	CA346486	rs_145611185	17 SubmittersRCV000157339 RCV000216382 RCV000233729 RCV000989182 RCV001171183 RCV002326893 RCV004734747
NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val)	SNV Germline	Chr14:23389478	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Condition: not provided Cardiovascular phenotype Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 Atrial septal defect 3 Sick sinus syndrome 3, susceptibility to Long QT syndrome	Criteria Provided Conflicting Classifications	CA346483	rs_368588052	6 SubmittersRCV000157338 RCV000463802 RCV001545949 RCV002362841 RCV002492608 RCV003318358
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln)	SNV Germline	Chr14:23388321	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiovascular phenotype Hypertrophic cardiomyopathy 14 Cardiomyopathy MYH6-related disorder	Criteria Provided Conflicting Classifications	CA237345	rs_150815925	15 SubmittersRCV000172024 RCV000223030 RCV000618730 RCV000647058 RCV001171182 RCV004539580
NM_002471.4(MYH6):c.4026C>A (p.Cys1342Ter)	SNV Germline	Chr14:23389008	Conflicting classifications of pathogenicity	Condition: not provided Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA237348	rs_141062252	4 SubmittersRCV000172025 RCV001409841 RCV002354431
NM_002471.4(MYH6):c.3988G>A (p.Ala1330Thr)	SNV Germline	Chr14:23389046	Conflicting classifications of pathogenicity	Condition: not provided Congestive heart failure Hypertrophic cardiomyopathy 14 Cardiovascular phenotype MYH6-related disorder	Criteria Provided Conflicting Classifications	CA237351	rs_757840030	5 SubmittersRCV000172026 RCV000852450 RCV001088140 RCV002372075 RCV004539581
NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser)	SNV Germline	Chr14:23390443	Conflicting classifications of pathogenicity	Condition: not provided Hypertrophic cardiomyopathy 14 Cardiovascular phenotype Atrial septal defect 3 Hypertrophic cardiomyopathy 1 Sick sinus syndrome 3, susceptibility to Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy Melanoma	Criteria Provided Conflicting Classifications	CA237360	rs_372446459	7 SubmittersRCV000172029 RCV000545287 RCV002321684 RCV002500448 RCV005621897 RCV005889675
NM_002471.4(MYH6):c.2591C>T (p.Thr864Met)	SNV Germline	Chr14:23394162	Conflicting classifications of pathogenicity	Condition: not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Cardiovascular phenotype Long QT syndrome	Criteria Provided Conflicting Classifications	CA238407	rs_200153625	7 SubmittersRCV000172564 RCV000208173 RCV000821750 RCV002433759 RCV003318361
NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp)	SNV Germline	Chr14:23394178	Conflicting classifications of pathogenicity	Condition: not provided Heart disease Cardiomyopathy Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 Atrial septal defect 3 Hypertrophic cardiomyopathy 14 Sick sinus syndrome 3, susceptibility to Dilated cardiomyopathy 1EE Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA237363	rs_369274077	11 SubmittersRCV000172030 RCV000208528 RCV001170243 RCV001364234 RCV002492720 RCV002453597 RCV005417988
NM_002471.4(MYH6):c.115G>A (p.Val39Met)	SNV Germline	Chr14:23407109	Conflicting classifications of pathogenicity	Condition: not provided Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 Atrial septal defect 3 Sick sinus syndrome 3, susceptibility to Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA237379	rs_142850511	5 SubmittersRCV000172038 RCV000765155 RCV001089357 RCV002354432
NM_002471.4(MYH6):c.2217T>C (p.Asp739=)	SNV Germline	Chr14:23396769	Conflicting classifications of pathogenicity	Condition: not provided Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA241186	rs_374177807	4 SubmittersRCV000175430 RCV002054068 RCV002415752
NM_002471.4(MYH6):c.4176-6G>T	SNV Germline	Chr14:23388344	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy 14 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA7114849	rs_760780588	3 SubmittersRCV000218702 RCV001430957 RCV003150111
NM_002471.4(MYH6):c.3787G>A (p.Val1263Met)	SNV Germline	Chr14:23389665	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy 14 Cardiovascular phenotype MYH6-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA7115072	rs_375819633	5 SubmittersRCV000222113 RCV000704700 RCV002347826 RCV004529368 RCV004812309
NM_002471.4(MYH6):c.3428G>A (p.Arg1143Gln)	SNV Germline	Chr14:23390361	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Hypertrophic cardiomyopathy 14 Cardiomyopathy MYH6-related disorder	Criteria Provided Conflicting Classifications	CA7115184	rs_543585784	7 SubmittersRCV000214617 RCV000620062 RCV001355795 RCV001853464 RCV001798705 RCV004734864
NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp)	SNV Germline	Chr14:23400772	Conflicting classifications of pathogenicity	not specified Condition: not provided Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7115834	rs_142059069	5 SubmittersRCV000221158 RCV001565787 RCV001853462 RCV002381744
NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr)	SNV Germline	Chr14:23400783	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 Sick sinus syndrome 3, susceptibility to Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Atrial septal defect 3	Criteria Provided Conflicting Classifications	CA7115836	rs_556536964	4 SubmittersRCV000217535 RCV000248354 RCV001320565 RCV002494569
NM_002471.4(MYH6):c.1154C>T (p.Ser385Leu)	SNV Germline	Chr14:23400965	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA7115865	rs_778319108	4 SubmittersRCV000213817 RCV000620614 RCV000868102
NM_002471.4(MYH6):c.5809G>A (p.Asp1937Asn)	SNV Germline	Chr14:23382051	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA10583163	rs_878854503	3 SubmittersRCV000232563 RCV000243674 RCV000522978
NM_002471.4(MYH6):c.4651-3C>A	SNV Germline	Chr14:23386626	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA7114675	rs_572175190	7 SubmittersRCV000232303 RCV000599110 RCV002338721 RCV006263784
NM_002471.4(MYH6):c.4594C>T (p.Arg1532Cys)	SNV Germline	Chr14:23387585	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Primary dilated cardiomyopathy Hemiplegia Migraine Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7114709	rs_201827489	6 SubmittersRCV000226741 RCV000415142 RCV001701711 RCV002338720
NM_002471.4(MYH6):c.3347G>A (p.Arg1116His)	SNV Germline	Chr14:23390442	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA7115206	rs_369247906	4 SubmittersRCV000251514 RCV000443494 RCV000623582 RCV001084669
NM_002471.4(MYH6):c.1327C>T (p.Arg443Cys)	SNV Germline	Chr14:23400792	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA7115838	rs_182373896	3 SubmittersRCV000226928 RCV002378987 RCV003328572
NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala)	SNV Germline	Chr14:23400875	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Sick sinus syndrome 3, susceptibility to Hypertrophic cardiomyopathy 1 Atrial septal defect 3 Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Sick sinus syndrome 3, susceptibility to	Criteria Provided Conflicting Classifications	CA7115852	rs_759520932	5 SubmittersRCV000229391 RCV000765153 RCV002392693 RCV003488486 RCV003335276
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg)	SNV Germline	Chr14:23384488	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hypertrophic cardiomyopathy 14 Condition: not provided Dilated cardiomyopathy 1EE Left ventricular noncompaction 1 not specified Hypertrophic cardiomyopathy 1 Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Atrial septal defect 3 Sick sinus syndrome 3, susceptibility to Atrial septal defect 3 Malignant lymphoma, large B-cell, diffuse	Criteria Provided Conflicting Classifications	CA7114413	rs_373629059	13 SubmittersRCV000254495 RCV000477541 RCV000521903 RCV001262777 RCV001256805 RCV002469091 RCV002479985 RCV005603614 RCV005895416
NM_002471.4(MYH6):c.3612G>C (p.Glu1204Asp)	SNV Germline	Chr14:23390177	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hypertrophic cardiomyopathy 14 not specified Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 1 Hypertrophic cardiomyopathy 14 Atrial septal defect 3 Sick sinus syndrome 3, susceptibility to Condition: not provided	Criteria Provided Conflicting Classifications	CA7115123	rs_751153777	5 SubmittersRCV000243115 RCV000647045 RCV002265714 RCV002500954 RCV005230217
NM_002471.4(MYH6):c.4651-4C>A	SNV Germline	Chr14:23386627	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Hypertrophic cardiomyopathy 14 not specified	Criteria Provided Conflicting Classifications	CA7114676	rs_766134513	4 SubmittersRCV000250143 RCV000870376 RCV001409438 RCV005434753
NM_002471.4(MYH6):c.3980C>T (p.Ala1327Val)	SNV Germline	Chr14:23389054	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hypertrophic cardiomyopathy 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA7114959	rs_148558068	4 SubmittersRCV000247624 RCV000865488 RCV001660390
NM_002471.4(MYH6):c.3177C>T (p.Gly1059=)	SNV Germline	Chr14:23392986	Conflicting classifications of pathogenicity	Cardiovascular phenotype not specified Cardiomyopathy Hypertrophic cardiomyopathy 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA7115284	rs_529676901	9 SubmittersRCV000245238 RCV000604311 RCV000770445 RCV000866398 RCV001529011
NM_002471.4(MYH6):c.643-3T>C	SNV Germline	Chr14:23404391	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hypertrophic cardiomyopathy 14 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7116068	rs_113552091	4 SubmittersRCV000251303 RCV001295234 RCV001577574 RCV003330617
NM_002471.4(MYH6):c.3327A>G (p.Lys1109=)	SNV Germline	Chr14:23392577	Conflicting classifications of pathogenicity	Condition: not provided Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA7115226	rs_755818414	2 SubmittersRCV000272055 RCV005090378
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)	SNV Germline	Chr14:23383234	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Hypertrophic cardiomyopathy 14 Cardiomyopathy MYH6-related disorder	Criteria Provided Conflicting Classifications	CA7114326	rs_200662317	14 SubmittersRCV000423727 RCV000727014 RCV000617875 RCV001079496 RCV001798780 RCV004544553
NM_002471.4(MYH6):c.3164G>A (p.Arg1055Gln)	SNV Germline	Chr14:23392999	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA7115287	rs_540893860	3 SubmittersRCV000647086 RCV001844125 RCV005001029
NM_002471.4(MYH6):c.3604G>A (p.Val1202Met)	SNV Germline	Chr14:23390185	Conflicting classifications of pathogenicity	Condition: not provided Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Sick sinus syndrome 3, susceptibility to Hypertrophic cardiomyopathy 1 Atrial septal defect 3 Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7115127	rs_368451573	6 SubmittersRCV000506811 RCV000765149 RCV001089300 RCV002450864
NM_002471.4(MYH6):c.5077G>A (p.Val1693Met)	SNV Germline	Chr14:23386014	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Atrial septal defect 3 Sick sinus syndrome 3, susceptibility to Hypertrophic cardiomyopathy 1 Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 14 Cardiovascular phenotype Atrial septal defect 3	Criteria Provided Conflicting Classifications	CA7114552	rs_373457153	7 SubmittersRCV000413418 RCV000770427 RCV000765148 RCV001034163 RCV002348133 RCV003989108
NM_002471.4(MYH6):c.4525+6C>T	SNV Germline	Chr14:23387752	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA16606797	rs_1057523902	2 SubmittersRCV000422603 RCV001036698
NM_002471.4(MYH6):c.210T>C (p.Thr70=)	SNV Germline	Chr14:23405762	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hypertrophic cardiomyopathy 14 not specified MYH6-related disorder	Criteria Provided Conflicting Classifications	CA7116225	rs_147397431	8 SubmittersRCV000597576 RCV000619851 RCV001080428 RCV001700383 RCV004540005
NM_002471.4(MYH6):c.3230A>T (p.Gln1077Leu)	SNV Germline	Chr14:23392933	Conflicting classifications of pathogenicity	Condition: not provided Hypertrophic cardiomyopathy 14 Atrial septal defect 3 Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA7115275	rs_377716628	6 SubmittersRCV000658226 RCV001088575 RCV001334050 RCV002323703 RCV005407117
NM_002471.4(MYH6):c.898+6C>T	SNV Germline	Chr14:23403342	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA7115992	rs_370158816	3 SubmittersRCV000477148 RCV000605225 RCV001810951
NM_002471.4(MYH6):c.3979-10C>T	SNV Germline	Chr14:23389065	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 not specified Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA7114977	rs_28730768	4 SubmittersRCV000470606 RCV000508414 RCV001712431 RCV001798845
NM_002471.4(MYH6):c.4991G>A (p.Arg1664His)	SNV Germline	Chr14:23386100	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Cardiomyopathy Cardiovascular phenotype Atrial septal defect 3 Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 Sick sinus syndrome 3, susceptibility to Condition: not provided	Criteria Provided Conflicting Classifications	CA7114576	rs_778287981	6 SubmittersRCV000469128 RCV001798832 RCV002339145 RCV002489033 RCV003133267
NM_002471.4(MYH6):c.1108C>T (p.Arg370Trp)	SNV Germline	Chr14:23402497	Conflicting classifications of pathogenicity	Condition: not provided not specified Primary familial dilated cardiomyopathy Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA7115903	rs_753444140	4 SubmittersRCV000485434 RCV000615081 RCV000845387 RCV001300484
NM_002471.4(MYH6):c.2575G>A (p.Gly859Arg)	SNV Germline	Chr14:23394178	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Cardiomyopathy Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA7115432	rs_369274077	5 SubmittersRCV000647060 RCV001798862 RCV002455959 RCV004719087
NM_002471.4(MYH6):c.3105+9T>C	SNV Germline	Chr14:23393333	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA658658242	rs_1555333942	2 SubmittersRCV000552239 RCV000788242
NM_002471.4(MYH6):c.4265G>A (p.Arg1422Gln)	SNV Germline	Chr14:23388249	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7114836	rs_574433291	4 SubmittersRCV000530234 RCV002269287 RCV004024141
NM_002471.4(MYH6):c.4027G>A (p.Asp1343Asn)	SNV Germline	Chr14:23389007	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7114949	rs_761711033	2 SubmittersRCV000554208 RCV002358552
NM_002471.4(MYH6):c.4299C>T (p.Asp1433=)	SNV Germline	Chr14:23388215	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7114828	rs_765006624	5 SubmittersRCV000556217 RCV000770436 RCV001435845 RCV004024142
NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg)	SNV Germline	Chr14:23383244	Conflicting classifications of pathogenicity	Condition: not provided Hypertrophic cardiomyopathy 14 Primary dilated cardiomyopathy Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA7114330	rs_750886219	5 SubmittersRCV000586382 RCV000796615 RCV000852690 RCV002350414 RCV003150290
NM_002471.4(MYH6):c.3447C>G (p.Ser1149Arg)	SNV Germline	Chr14:23390342	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Hypertrophic cardiomyopathy 14 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA7115180	rs_564367705	5 SubmittersRCV000605334 RCV001170239 RCV002062143 RCV002456319 RCV006265103
NM_002471.4(MYH6):c.898+6C>A	SNV Germline	Chr14:23403342	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA7115993	rs_370158816	2 SubmittersRCV000606164 RCV001854150
NM_002471.4(MYH6):c.2929-3C>T	SNV Germline	Chr14:23393521	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 Atrial septal defect 3 Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Sick sinus syndrome 3, susceptibility to Condition: not provided	Criteria Provided Conflicting Classifications	CA7115342	rs_376752266	4 SubmittersRCV000618339 RCV001346566 RCV002491333 RCV003736862
NM_002471.4(MYH6):c.635C>T (p.Ala212Val)	SNV Germline	Chr14:23404718	Conflicting classifications of pathogenicity	Cardiovascular phenotype not specified Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA7116098	rs_780456381	3 SubmittersRCV000621731 RCV000624414 RCV000701024
NM_002471.4(MYH6):c.4666G>A (p.Glu1556Lys)	SNV Germline	Chr14:23386608	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Atrial septal defect 3 Cardiovascular phenotype not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA7114671	rs_148582147	5 SubmittersRCV000647064 RCV001029736 RCV002334166 RCV005240383 RCV005231226
NM_002471.4(MYH6):c.1410+1G>A	SNV Germline	Chr14:23400708	Pathogenic	Heart, malformation of Hypertrophic cardiomyopathy 14 MYH6-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA389023274	rs_1566513862	4 SubmittersRCV001836862 RCV003629132 RCV005250089 RCV006252718
NM_002471.4(MYH6):c.5661G>A (p.Ala1887=)	SNV Germline	Chr14:23383225	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA7114322	rs_759126258	6 SubmittersRCV000701793 RCV001585650 RCV004639335 RCV005436023
NM_002471.4(MYH6):c.3618C>T (p.Gly1206=)	SNV Germline	Chr14:23390171	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Cardiovascular phenotype Atrial septal defect 3 Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Sick sinus syndrome 3, susceptibility to Hypertrophic cardiomyopathy 1	Criteria Provided Conflicting Classifications	CA7115119	rs_765103086	3 SubmittersRCV000685074 RCV002458195 RCV002477521
NM_002471.4(MYH6):c.2353C>T (p.Arg785Cys)	SNV Germline	Chr14:23396360	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7115495	rs_543524943	3 SubmittersRCV001089006 RCV000786370 RCV002442514
NM_002471.4(MYH6):c.3867G>T (p.Leu1289Phe)	SNV Germline	Chr14:23389504	Conflicting classifications of pathogenicity	Cardiomyopathy Hypertrophic cardiomyopathy 14 not specified Cardiovascular phenotype MYH6-related disorder	Criteria Provided Conflicting Classifications	CA7115030	rs_138127105	6 SubmittersRCV000769411 RCV000811499 RCV001193051 RCV002360876 RCV004735795
NM_002471.4(MYH6):c.2538G>A (p.Glu846=)	SNV Germline	Chr14:23394215	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA485765233	rs_730880150	3 SubmittersRCV000770455 RCV002458380 RCV005092212
NM_002471.4(MYH6):c.503-8T>C	SNV Germline	Chr14:23405135	Conflicting classifications of pathogenicity	Cardiomyopathy Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA913190873	rs_1566516373	2 SubmittersRCV000770457 RCV001490669
NM_002471.4(MYH6):c.2738A>G (p.Asn913Ser)	SNV Germline	Chr14:23393856	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7115378	rs_138213182	2 SubmittersRCV000807107 RCV002440726
NM_002471.4(MYH6):c.2189T>C (p.Val730Ala)	SNV Germline	Chr14:23396797	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Cardiovascular phenotype Sick sinus syndrome 3, susceptibility to Atrial septal defect 3 Hypertrophic cardiomyopathy 1 Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA7115550	rs_763963623	3 SubmittersRCV000813515 RCV002422808 RCV002487777
NM_002471.4(MYH6):c.345T>C (p.Tyr115=)	SNV Germline	Chr14:23405627	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7116202	rs_770221652	3 SubmittersRCV000845484 RCV001858461 RCV004986653
NM_002471.4(MYH6):c.3979-2A>C	SNV Germline	Chr14:23389057	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy Hypertrophic cardiomyopathy 14 Cardiovascular phenotype Atrial septal defect 3	Criteria Provided Conflicting Classifications	CA7114960	rs_1158854454	4 SubmittersRCV000852694 RCV001299078 RCV002372387 RCV003994134
NM_002471.4(MYH6):c.1486G>A (p.Val496Met)	SNV Germline	Chr14:23400351	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Cardiomyopathy Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Atrial septal defect 3 Sick sinus syndrome 3, susceptibility to	Criteria Provided Conflicting Classifications	CA7115796	rs_761085263	6 SubmittersRCV000983925 RCV001799018 RCV002391043 RCV003424518 RCV005012405
NM_002471.4(MYH6):c.3583C>A (p.Arg1195Ser)	SNV Germline	Chr14:23390206	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7115136	rs_769756450	3 SubmittersRCV001066460 RCV001539628 RCV002339331
NM_002471.4(MYH6):c.3447C>T (p.Ser1149=)	SNV Germline	Chr14:23390342	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Hypertrophic cardiomyopathy 1 Sick sinus syndrome 3, susceptibility to Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Atrial septal defect 3 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7115179	rs_564367705	3 SubmittersRCV001067003 RCV002497468 RCV004649448
NM_002471.4(MYH6):c.3178G>A (p.Asp1060Asn)	SNV Germline	Chr14:23392985	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7115283	rs_775560235	3 SubmittersRCV001039248 RCV001170240 RCV002320244
NM_002471.4(MYH6):c.1885G>A (p.Asp629Asn)	SNV Germline	Chr14:23398734	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hypertrophic cardiomyopathy 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA7115687	rs_180904654	4 SubmittersRCV002407930 RCV003100917 RCV003321943
NM_002471.4(MYH6):c.354G>A (p.Ser118=)	SNV Germline	Chr14:23405371	Conflicting classifications of pathogenicity	Cardiomyopathy Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7116184	rs_373427673	3 SubmittersRCV001170477 RCV002558709 RCV003163372
NM_002471.4(MYH6):c.1892-10C>T	SNV Germline	Chr14:23397623	Conflicting classifications of pathogenicity	Cardiomyopathy Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA612933979	rs_1322705042	2 SubmittersRCV001170244 RCV001392748
NM_002471.4(MYH6):c.2807C>T (p.Ala936Val)	SNV Germline	Chr14:23393787	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Condition: not provided not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7115372	rs_199838024	6 SubmittersRCV001196001 RCV001726448 RCV001701304 RCV002436769
NM_002471.4(MYH6):c.2685G>A (p.Ala895=)	SNV Germline	Chr14:23394068	Conflicting classifications of pathogenicity	not specified Condition: not provided Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7115413	rs_752345245	4 SubmittersRCV001256741 RCV001550994 RCV001462525 RCV002430058
NM_002471.4(MYH6):c.5797-1G>A	SNV Germline	Chr14:23382064	Conflicting classifications of pathogenicity	Condition: not provided Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA388981000	rs_1484679078	2 SubmittersRCV001281620 RCV003629183
NM_002471.4(MYH6):c.1411-12T>C	SNV Germline	Chr14:23400438	Conflicting classifications of pathogenicity	Atrial septal defect 3 Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA7115806	rs_749244720	2 SubmittersRCV001334046 RCV002070176
NM_002471.4(MYH6):c.3981G>A (p.Ala1327=)	SNV Germline	Chr14:23389053	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 not specified	Criteria Provided Conflicting Classifications	CA257782532	rs_904695058	2 SubmittersRCV001395339 RCV006457076
NM_002471.4(MYH6):c.3099G>A (p.Val1033=)	SNV Germline	Chr14:23393348	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA257786669	rs_949717573	2 SubmittersRCV001453987 RCV004038531
NM_002471.4(MYH6):c.852C>T (p.Tyr284=)	SNV Germline	Chr14:23403394	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA485611086	rs_1168415754	2 SubmittersRCV001498867 RCV005443370
NM_002471.4(MYH6):c.2717G>A (p.Arg906His)	SNV Germline	Chr14:23393877	Conflicting classifications of pathogenicity	Condition: not provided Hypertrophic cardiomyopathy 14 Cardiovascular phenotype Hypertrophic cardiomyopathy 1 Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Atrial septal defect 3 Sick sinus syndrome 3, susceptibility to not specified	Criteria Provided Conflicting Classifications	CA7115381	rs_527636904	7 SubmittersRCV001700883 RCV001866269 RCV002425024 RCV002488471 RCV003323917
NM_002471.4(MYH6):c.5020G>A (p.Ala1674Thr)	SNV Germline	Chr14:23386071	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7114568	rs_534560839	2 SubmittersRCV001919312 RCV004044142
NM_002471.4(MYH6):c.2064C>A (p.Asn688Lys)	SNV Germline	Chr14:23397067	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA7115599	rs_769708956	3 SubmittersRCV001888265 RCV004041091 RCV006453780
NM_002471.4(MYH6):c.4985C>T (p.Ala1662Val)	SNV Germline	Chr14:23386106	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA7114579	rs_773445582	3 SubmittersRCV001866717 RCV002343894 RCV003426220
NM_002471.4(MYH6):c.1894G>A (p.Asp632Asn)	SNV Germline	Chr14:23397611	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA257791258	rs_367607444	3 SubmittersRCV002300803 RCV005375092 RCV006470460
NM_002471.4(MYH6):c.5792C>T (p.Ala1931Val)	SNV Germline	Chr14:23382432	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA388981104	rs_1233371859	2 SubmittersRCV002359779 RCV006470873
NM_002471.4(MYH6):c.2686-5C>T	SNV Germline	Chr14:23393913	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA7115389	rs_765312755	2 SubmittersRCV002453155 RCV006471306
NM_002471.4(MYH6):c.5286G>A (p.Thr1762=)	SNV Germline	Chr14:23384919	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA7114496	rs_770933834	2 SubmittersRCV002465031 RCV003629236
NM_002471.4(MYH6):c.5164-5T>G	SNV Germline	Chr14:23385046	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy 14 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA2123409579	rs_1890979278	2 SubmittersRCV002592198 RCV004985220
NM_002471.4(MYH6):c.324C>A (p.Arg108=)	SNV Germline	Chr14:23405648	Conflicting classifications of pathogenicity	Condition: not provided Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA485765765	rs_1891763616	2 SubmittersRCV003131639 RCV003514604
NM_002471.4(MYH6):c.4794G>A (p.Ser1598=)	SNV Germline	Chr14:23386480	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA257779046	rs_981486511	2 SubmittersRCV003177689 RCV003514615
NM_002471.4(MYH6):c.2430-5G>A	SNV Germline	Chr14:23394328	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA613317566	rs_1176670439	2 SubmittersRCV003177704 RCV003629251
NM_002471.4(MYH6):c.2230A>G (p.Thr744Ala)	SNV Germline	Chr14:23396756	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hypertrophic cardiomyopathy 14	Criteria Provided Conflicting Classifications	CA389016993	rs_1366859659	2 SubmittersRCV003278392 RCV005102807
NM_002471.4(MYH6):c.4034T>C (p.Leu1345Pro)	SNV Germline	Chr14:23389000	Pathogenic	Hypertrophic cardiomyopathy 14	Criteria Provided Single Submitter	CA389002147	rs_2502153575	1 SubmittersRCV003630391
NM_002471.4(MYH6):c.5164-2A>G	SNV Germline	Chr14:23385043	Likely pathogenic	Dilated cardiomyopathy 1EE Hypertrophic cardiomyopathy 14 Atrial septal defect 3	Criteria Provided Single Submitter			1 SubmittersRCV004771598
NM_002471.4(MYH6):c.4651-1G>A	SNV Germline	Chr14:23386624	Likely pathogenic	Hypertrophic cardiomyopathy 14	Criteria Provided Single Submitter			1 SubmittersRCV005882636

NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)

SNV
Germline

Chr14:23392968

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
not specified
Hypertrophic cardiomyopathy
Primary dilated cardiomyopathy
Hemiplegia
Migraine
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA123768

rs_267606904

11 SubmittersRCV000015212 RCV000037469 RCV000171836 RCV000414926 RCV000845359 RCV002321482

NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)

SNV
Germline

Chr14:23393437

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1EE
not specified
Primary dilated cardiomyopathy
Cardiovascular phenotype
Hypertrophic cardiomyopathy 14
Condition: not provided
Cardiomyopathy
Wolff-Parkinson-White pattern
Primary dilated cardiomyopathy
Ventricular tachycardia
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA134311

rs_143978652

22 SubmittersRCV000015214 RCV000037468 RCV000172563 RCV000244450 RCV000201499 RCV000723680 RCV000770446 RCV000656144 RCV000852696 RCV004765306

NM_002471.4(MYH6):c.1252G>A (p.Val418Met)

SNV
Germline

Chr14:23400867

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA134230

rs_147606900

12 SubmittersRCV000037439 RCV000172033 RCV000254507 RCV000852697 RCV001088230

NM_002471.4(MYH6):c.1449C>T (p.Asn483=)

SNV
Germline

Chr14:23400388

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy 14
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA134242

rs_145447555

10 SubmittersRCV000037443 RCV000229778 RCV000769422 RCV001725948

NM_002471.4(MYH6):c.2401A>G (p.Ile801Val)

SNV
Germline

Chr14:23396312

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Dilated cardiomyopathy 1A
Hypertrophic cardiomyopathy 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA134273

rs_75487328

6 SubmittersRCV000037454 RCV000618074 RCV001256734 RCV001365449 RCV005089357

NM_002471.4(MYH6):c.2579G>A (p.Arg860His)

SNV
Germline

Chr14:23394174

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy 14
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA134283

rs_115845031

14 SubmittersRCV000037458 RCV000242007 RCV000770454 RCV000845565 RCV001082478 RCV004765312

NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys)

SNV
Germline

Chr14:23394139

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy 14
Cardiomyopathy
Primary dilated cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA134292

rs_201193346

7 SubmittersRCV000037461 RCV000462013 RCV001170242 RCV001293069 RCV001568077 RCV002433502

NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)

SNV
Germline

Chr14:23405680

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Hypertrophic cardiomyopathy 14
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 1
Atrial septal defect 3
Sick sinus syndrome 3, susceptibility to
Hypertrophic cardiomyopathy 14
Condition: not provided
Cardiomyopathy
Hypertrophic cardiomyopathy 1
Atrial septal defect 3

Criteria Provided
Conflicting Classifications

CA134302

rs_140596256

14 SubmittersRCV000037465 RCV000252583 RCV000467043 RCV000765154 RCV000761867 RCV000770460 RCV001256736 RCV002470732

NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly)

SNV
Germline

Chr14:23392964

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA134313

rs_145508517

7 SubmittersRCV000037470 RCV000172562 RCV001088527 RCV002321509

NM_002471.4(MYH6):c.3860-15T>G

SNV
Germline

Chr14:23389526

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA134353

rs_200883903

8 SubmittersRCV000037484 RCV001701649 RCV002054663

NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln)

SNV
Germline

Chr14:23387778

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 1
Atrial septal defect 3
Sick sinus syndrome 3, susceptibility to
Hypertrophic cardiomyopathy 14
Hypertrophic cardiomyopathy 14
Primary familial dilated cardiomyopathy
Condition: not provided
Cardiovascular phenotype
MYH6-related disorder

Criteria Provided
Conflicting Classifications

CA134408

rs_199936506

10 SubmittersRCV000037507 RCV000172022 RCV000515370 RCV000466575 RCV000623195 RCV001659959 RCV002336131 RCV004534789

NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)

SNV
Germline

Chr14:23384714

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
Primary familial hypertrophic cardiomyopathy
Cardiomyopathy
Condition: not provided
Atrial septal defect 3
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Hypertrophic cardiomyopathy 1
Sick sinus syndrome 3, susceptibility to

Criteria Provided
Conflicting Classifications

CA134466

rs_397516775

11 SubmittersRCV000037529 RCV000467764 RCV000619201 RCV000845414 RCV000770426 RCV001699024 RCV002482989

NM_002471.4(MYH6):c.5400C>T (p.Asp1800=)

SNV
Germline

Chr14:23384607

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hypertrophic cardiomyopathy 14
MYH6-related disorder

Criteria Provided
Conflicting Classifications

CA134472

rs_144329079

10 SubmittersRCV000037531 RCV000724395 RCV001087566 RCV004534791

NM_002471.4(MYH6):c.5662-6C>T

SNV
Germline

Chr14:23382568

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA134481

rs_183733802

3 SubmittersRCV000037534 RCV001464365

NM_002471.4(MYH6):c.643-5C>T

SNV
Germline

Chr14:23404393

Conflicting classifications of pathogenicity

not specified
Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
MYH6-related disorder

Criteria Provided
Conflicting Classifications

CA134491

rs_199859986

15 SubmittersRCV000037538 RCV000157345 RCV000230504 RCV000251059 RCV000769432 RCV001528652 RCV004541110

NM_002471.4(MYH6):c.824T>A (p.Ile275Asn)

SNV
Germline

Chr14:23403422

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Primary familial dilated cardiomyopathy
Hypertrophic cardiomyopathy 14
Condition: not provided
Cardiovascular phenotype
MYH6-related disorder

Criteria Provided
Conflicting Classifications

CA134496

rs_201327273

9 SubmittersRCV000037541 RCV000171837 RCV000624229 RCV000989184 RCV001572348 RCV002426562 RCV004534793

NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)

SNV
Germline

Chr14:23398856

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
not specified
Condition: not provided
Hypertrophic cardiomyopathy 14
Cardiomyopathy
Cardiovascular phenotype
MYH6-related disorder

Criteria Provided
Conflicting Classifications

CA176961

rs_142992009

19 SubmittersRCV000143919 RCV000151221 RCV000172566 RCV000989183 RCV001798462 RCV002408642 RCV004532623

NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu)

SNV
Germline

Chr14:23387584

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
Primary familial hypertrophic cardiomyopathy
Cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy
MYH6-related disorder

Criteria Provided
Conflicting Classifications

CA181318

rs_34330111

9 SubmittersRCV000154756 RCV000228396 RCV000620512 RCV000623367 RCV000852692 RCV001719961 RCV004765315 RCV004544411

NM_002471.4(MYH6):c.3343-3C>A

SNV
Germline

Chr14:23390449

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA184823

rs_565446762

6 SubmittersRCV000156432 RCV001529066 RCV002321651 RCV002515019

NM_002471.4(MYH6):c.2464G>A (p.Ala822Thr)

SNV
Germline

Chr14:23394289

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183535

rs_138419275

4 SubmittersRCV000155804 RCV000647085 RCV004019865

NM_002471.4(MYH6):c.2071G>A (p.Val691Ile)

SNV
Germline

Chr14:23397060

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
MYH6-related disorder

Criteria Provided
Conflicting Classifications

CA176958

rs_148915045

11 SubmittersRCV000151220 RCV000457574 RCV000619683 RCV000769419 RCV001701688 RCV004544355

NM_002471.4(MYH6):c.1582-7C>T

SNV
Germline

Chr14:23399044

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA176964

rs_374941865

3 SubmittersRCV000151222 RCV000232632 RCV002516036

NM_002471.4(MYH6):c.1132G>A (p.Gly378Ser)

SNV
Germline

Chr14:23402473

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Hypertrophic cardiomyopathy 14
Cardiomyopathy
Hypertrophic cardiomyopathy
Primary dilated cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181340

rs_148962966

9 SubmittersRCV000154766 RCV000241733 RCV000464311 RCV001170246 RCV001293155 RCV001293167 RCV001697081

NM_002471.4(MYH6):c.245C>T (p.Pro82Leu)

SNV
Germline

Chr14:23405727

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA176969

rs_529427223

3 SubmittersRCV000151225 RCV001041444 RCV002453489

NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)

SNV
Germline

Chr14:23386369

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA181315

rs_143048583

11 SubmittersRCV000154755 RCV000617571 RCV000724141 RCV001089380

NM_002471.4(MYH6):c.4360-7C>G

SNV
Germline

Chr14:23387930

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy 14
Condition: not provided
MYH6-related disorder

Criteria Provided
Conflicting Classifications

CA181321

rs_58949384

6 SubmittersRCV000154757 RCV000647092 RCV001657880 RCV004734725

NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys)

SNV
Germline

Chr14:23390281

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Atrial septal defect 3
Sick sinus syndrome 3, susceptibility to
Cardiovascular phenotype
Hypertrophic cardiomyopathy 14
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA176949

rs_727503236

7 SubmittersRCV000151217 RCV000477774 RCV000617980 RCV000860938 RCV001171186 RCV001561277

NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn)

SNV
Germline

Chr14:23392943

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
Atrial septal defect 3
Sick sinus syndrome 3, susceptibility to
Hypertrophic cardiomyopathy 1
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA183532

rs_375169402

5 SubmittersRCV000155803 RCV000497746 RCV001309719 RCV002444641 RCV002498758

NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys)

SNV
Germline

Chr14:23398917

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy 14
Primary familial hypertrophic cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA181333

rs_149650190

6 SubmittersRCV000154763 RCV000460717 RCV000845511 RCV002399544 RCV005089748

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

SNV
Germline

Chr14:23403415

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA181127

rs_140660481

13 SubmittersRCV000154662 RCV000172034 RCV000769431 RCV000999591 RCV001083211 RCV001256735 RCV002408687 RCV003318356 RCV004765314

NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)

SNV
Germline

Chr14:23388898

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
not specified
Condition: not provided
Hypertrophic cardiomyopathy 14
Cardiomyopathy
Cardiovascular phenotype
MYH6-related disorder

Criteria Provided
Conflicting Classifications

CA346486

rs_145611185

17 SubmittersRCV000157339 RCV000216382 RCV000233729 RCV000989182 RCV001171183 RCV002326893 RCV004734747

NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val)

SNV
Germline

Chr14:23389478

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 14
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Hypertrophic cardiomyopathy 1
Atrial septal defect 3
Sick sinus syndrome 3, susceptibility to
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA346483

rs_368588052

6 SubmittersRCV000157338 RCV000463802 RCV001545949 RCV002362841 RCV002492608 RCV003318358

NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln)

SNV
Germline

Chr14:23388321

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Hypertrophic cardiomyopathy 14
Cardiomyopathy
MYH6-related disorder

Criteria Provided
Conflicting Classifications

CA237345

rs_150815925

15 SubmittersRCV000172024 RCV000223030 RCV000618730 RCV000647058 RCV001171182 RCV004539580

NM_002471.4(MYH6):c.4026C>A (p.Cys1342Ter)

SNV
Germline

Chr14:23389008

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237348

rs_141062252

4 SubmittersRCV000172025 RCV001409841 RCV002354431

NM_002471.4(MYH6):c.3988G>A (p.Ala1330Thr)

SNV
Germline

Chr14:23389046

Conflicting classifications of pathogenicity

Condition: not provided
Congestive heart failure
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
MYH6-related disorder

Criteria Provided
Conflicting Classifications

CA237351

rs_757840030

5 SubmittersRCV000172026 RCV000852450 RCV001088140 RCV002372075 RCV004539581

NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser)

SNV
Germline

Chr14:23390443

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
Atrial septal defect 3
Hypertrophic cardiomyopathy 1
Sick sinus syndrome 3, susceptibility to
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Hypertrophic cardiomyopathy
Melanoma

Criteria Provided
Conflicting Classifications

CA237360

rs_372446459

7 SubmittersRCV000172029 RCV000545287 RCV002321684 RCV002500448 RCV005621897 RCV005889675

NM_002471.4(MYH6):c.2591C>T (p.Thr864Met)

SNV
Germline

Chr14:23394162

Conflicting classifications of pathogenicity

Condition: not provided
Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA238407

rs_200153625

7 SubmittersRCV000172564 RCV000208173 RCV000821750 RCV002433759 RCV003318361

NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp)

SNV
Germline

Chr14:23394178

Conflicting classifications of pathogenicity

Condition: not provided
Heart disease
Cardiomyopathy
Hypertrophic cardiomyopathy 14
Hypertrophic cardiomyopathy 1
Atrial septal defect 3
Hypertrophic cardiomyopathy 14
Sick sinus syndrome 3, susceptibility to
Dilated cardiomyopathy 1EE
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA237363

rs_369274077

11 SubmittersRCV000172030 RCV000208528 RCV001170243 RCV001364234 RCV002492720 RCV002453597 RCV005417988

NM_002471.4(MYH6):c.115G>A (p.Val39Met)

SNV
Germline

Chr14:23407109

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Hypertrophic cardiomyopathy 1
Atrial septal defect 3
Sick sinus syndrome 3, susceptibility to
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA237379

rs_142850511

5 SubmittersRCV000172038 RCV000765155 RCV001089357 RCV002354432

NM_002471.4(MYH6):c.2217T>C (p.Asp739=)

SNV
Germline

Chr14:23396769

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA241186

rs_374177807

4 SubmittersRCV000175430 RCV002054068 RCV002415752

NM_002471.4(MYH6):c.4176-6G>T

SNV
Germline

Chr14:23388344

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy 14
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA7114849

rs_760780588

3 SubmittersRCV000218702 RCV001430957 RCV003150111

NM_002471.4(MYH6):c.3787G>A (p.Val1263Met)

SNV
Germline

Chr14:23389665

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
MYH6-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7115072

rs_375819633

5 SubmittersRCV000222113 RCV000704700 RCV002347826 RCV004529368 RCV004812309

NM_002471.4(MYH6):c.3428G>A (p.Arg1143Gln)

SNV
Germline

Chr14:23390361

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Hypertrophic cardiomyopathy 14
Cardiomyopathy
MYH6-related disorder

Criteria Provided
Conflicting Classifications

CA7115184

rs_543585784

7 SubmittersRCV000214617 RCV000620062 RCV001355795 RCV001853464 RCV001798705 RCV004734864

NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp)

SNV
Germline

Chr14:23400772

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7115834

rs_142059069

5 SubmittersRCV000221158 RCV001565787 RCV001853462 RCV002381744

NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr)

SNV
Germline

Chr14:23400783

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Hypertrophic cardiomyopathy 14
Hypertrophic cardiomyopathy 1
Sick sinus syndrome 3, susceptibility to
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Atrial septal defect 3

Criteria Provided
Conflicting Classifications

CA7115836

rs_556536964

4 SubmittersRCV000217535 RCV000248354 RCV001320565 RCV002494569

NM_002471.4(MYH6):c.1154C>T (p.Ser385Leu)

SNV
Germline

Chr14:23400965

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA7115865

rs_778319108

4 SubmittersRCV000213817 RCV000620614 RCV000868102

NM_002471.4(MYH6):c.5809G>A (p.Asp1937Asn)

SNV
Germline

Chr14:23382051

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583163

rs_878854503

3 SubmittersRCV000232563 RCV000243674 RCV000522978

NM_002471.4(MYH6):c.4651-3C>A

SNV
Germline

Chr14:23386626

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA7114675

rs_572175190

7 SubmittersRCV000232303 RCV000599110 RCV002338721 RCV006263784

NM_002471.4(MYH6):c.4594C>T (p.Arg1532Cys)

SNV
Germline

Chr14:23387585

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Primary dilated cardiomyopathy
Hemiplegia
Migraine
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7114709

rs_201827489

6 SubmittersRCV000226741 RCV000415142 RCV001701711 RCV002338720

NM_002471.4(MYH6):c.3347G>A (p.Arg1116His)

SNV
Germline

Chr14:23390442

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA7115206

rs_369247906

4 SubmittersRCV000251514 RCV000443494 RCV000623582 RCV001084669

NM_002471.4(MYH6):c.1327C>T (p.Arg443Cys)

SNV
Germline

Chr14:23400792

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7115838

rs_182373896

3 SubmittersRCV000226928 RCV002378987 RCV003328572

NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala)

SNV
Germline

Chr14:23400875

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Sick sinus syndrome 3, susceptibility to
Hypertrophic cardiomyopathy 1
Atrial septal defect 3
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Sick sinus syndrome 3, susceptibility to

Criteria Provided
Conflicting Classifications

CA7115852

rs_759520932

5 SubmittersRCV000229391 RCV000765153 RCV002392693 RCV003488486 RCV003335276

NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg)

SNV
Germline

Chr14:23384488

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hypertrophic cardiomyopathy 14
Condition: not provided
Dilated cardiomyopathy 1EE
Left ventricular noncompaction 1
not specified
Hypertrophic cardiomyopathy 1
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Atrial septal defect 3
Sick sinus syndrome 3, susceptibility to
Atrial septal defect 3
Malignant lymphoma, large B-cell, diffuse

Criteria Provided
Conflicting Classifications

CA7114413

rs_373629059

13 SubmittersRCV000254495 RCV000477541 RCV000521903 RCV001262777 RCV001256805 RCV002469091 RCV002479985 RCV005603614 RCV005895416

NM_002471.4(MYH6):c.3612G>C (p.Glu1204Asp)

SNV
Germline

Chr14:23390177

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hypertrophic cardiomyopathy 14
not specified
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 1
Hypertrophic cardiomyopathy 14
Atrial septal defect 3
Sick sinus syndrome 3, susceptibility to
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7115123

rs_751153777

5 SubmittersRCV000243115 RCV000647045 RCV002265714 RCV002500954 RCV005230217

NM_002471.4(MYH6):c.4651-4C>A

SNV
Germline

Chr14:23386627

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Hypertrophic cardiomyopathy 14
not specified

Criteria Provided
Conflicting Classifications

CA7114676

rs_766134513

4 SubmittersRCV000250143 RCV000870376 RCV001409438 RCV005434753

NM_002471.4(MYH6):c.3980C>T (p.Ala1327Val)

SNV
Germline

Chr14:23389054

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hypertrophic cardiomyopathy 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7114959

rs_148558068

4 SubmittersRCV000247624 RCV000865488 RCV001660390

NM_002471.4(MYH6):c.3177C>T (p.Gly1059=)

SNV
Germline

Chr14:23392986

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Cardiomyopathy
Hypertrophic cardiomyopathy 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7115284

rs_529676901

9 SubmittersRCV000245238 RCV000604311 RCV000770445 RCV000866398 RCV001529011

NM_002471.4(MYH6):c.643-3T>C

SNV
Germline

Chr14:23404391

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hypertrophic cardiomyopathy 14
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7116068

rs_113552091

4 SubmittersRCV000251303 RCV001295234 RCV001577574 RCV003330617

NM_002471.4(MYH6):c.3327A>G (p.Lys1109=)

SNV
Germline

Chr14:23392577

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA7115226

rs_755818414

2 SubmittersRCV000272055 RCV005090378

NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)

SNV
Germline

Chr14:23383234

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Hypertrophic cardiomyopathy 14
Cardiomyopathy
MYH6-related disorder

Criteria Provided
Conflicting Classifications

CA7114326

rs_200662317

14 SubmittersRCV000423727 RCV000727014 RCV000617875 RCV001079496 RCV001798780 RCV004544553

NM_002471.4(MYH6):c.3164G>A (p.Arg1055Gln)

SNV
Germline

Chr14:23392999

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7115287

rs_540893860

3 SubmittersRCV000647086 RCV001844125 RCV005001029

NM_002471.4(MYH6):c.3604G>A (p.Val1202Met)

SNV
Germline

Chr14:23390185

Conflicting classifications of pathogenicity

Condition: not provided
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Sick sinus syndrome 3, susceptibility to
Hypertrophic cardiomyopathy 1
Atrial septal defect 3
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7115127

rs_368451573

6 SubmittersRCV000506811 RCV000765149 RCV001089300 RCV002450864

NM_002471.4(MYH6):c.5077G>A (p.Val1693Met)

SNV
Germline

Chr14:23386014

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Atrial septal defect 3
Sick sinus syndrome 3, susceptibility to
Hypertrophic cardiomyopathy 1
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
Atrial septal defect 3

Criteria Provided
Conflicting Classifications

CA7114552

rs_373457153

7 SubmittersRCV000413418 RCV000770427 RCV000765148 RCV001034163 RCV002348133 RCV003989108

NM_002471.4(MYH6):c.4525+6C>T

SNV
Germline

Chr14:23387752

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA16606797

rs_1057523902

2 SubmittersRCV000422603 RCV001036698

NM_002471.4(MYH6):c.210T>C (p.Thr70=)

SNV
Germline

Chr14:23405762

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hypertrophic cardiomyopathy 14
not specified
MYH6-related disorder

Criteria Provided
Conflicting Classifications

CA7116225

rs_147397431

8 SubmittersRCV000597576 RCV000619851 RCV001080428 RCV001700383 RCV004540005

NM_002471.4(MYH6):c.3230A>T (p.Gln1077Leu)

SNV
Germline

Chr14:23392933

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy 14
Atrial septal defect 3
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA7115275

rs_377716628

6 SubmittersRCV000658226 RCV001088575 RCV001334050 RCV002323703 RCV005407117

NM_002471.4(MYH6):c.898+6C>T

SNV
Germline

Chr14:23403342

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7115992

rs_370158816

3 SubmittersRCV000477148 RCV000605225 RCV001810951

NM_002471.4(MYH6):c.3979-10C>T

SNV
Germline

Chr14:23389065

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
not specified
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA7114977

rs_28730768

4 SubmittersRCV000470606 RCV000508414 RCV001712431 RCV001798845

NM_002471.4(MYH6):c.4991G>A (p.Arg1664His)

SNV
Germline

Chr14:23386100

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Cardiomyopathy
Cardiovascular phenotype
Atrial septal defect 3
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Hypertrophic cardiomyopathy 1
Sick sinus syndrome 3, susceptibility to
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7114576

rs_778287981

6 SubmittersRCV000469128 RCV001798832 RCV002339145 RCV002489033 RCV003133267

NM_002471.4(MYH6):c.1108C>T (p.Arg370Trp)

SNV
Germline

Chr14:23402497

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Primary familial dilated cardiomyopathy
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA7115903

rs_753444140

4 SubmittersRCV000485434 RCV000615081 RCV000845387 RCV001300484

NM_002471.4(MYH6):c.2575G>A (p.Gly859Arg)

SNV
Germline

Chr14:23394178

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7115432

rs_369274077

5 SubmittersRCV000647060 RCV001798862 RCV002455959 RCV004719087

NM_002471.4(MYH6):c.3105+9T>C

SNV
Germline

Chr14:23393333

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658658242

rs_1555333942

2 SubmittersRCV000552239 RCV000788242

NM_002471.4(MYH6):c.4265G>A (p.Arg1422Gln)

SNV
Germline

Chr14:23388249

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7114836

rs_574433291

4 SubmittersRCV000530234 RCV002269287 RCV004024141

NM_002471.4(MYH6):c.4027G>A (p.Asp1343Asn)

SNV
Germline

Chr14:23389007

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7114949

rs_761711033

2 SubmittersRCV000554208 RCV002358552

NM_002471.4(MYH6):c.4299C>T (p.Asp1433=)

SNV
Germline

Chr14:23388215

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7114828

rs_765006624

5 SubmittersRCV000556217 RCV000770436 RCV001435845 RCV004024142

NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg)

SNV
Germline

Chr14:23383244

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy 14
Primary dilated cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA7114330

rs_750886219

5 SubmittersRCV000586382 RCV000796615 RCV000852690 RCV002350414 RCV003150290

NM_002471.4(MYH6):c.3447C>G (p.Ser1149Arg)

SNV
Germline

Chr14:23390342

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7115180

rs_564367705

5 SubmittersRCV000605334 RCV001170239 RCV002062143 RCV002456319 RCV006265103

NM_002471.4(MYH6):c.898+6C>A

SNV
Germline

Chr14:23403342

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA7115993

rs_370158816

2 SubmittersRCV000606164 RCV001854150

NM_002471.4(MYH6):c.2929-3C>T

SNV
Germline

Chr14:23393521

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hypertrophic cardiomyopathy 14
Hypertrophic cardiomyopathy 1
Atrial septal defect 3
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Sick sinus syndrome 3, susceptibility to
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7115342

rs_376752266

4 SubmittersRCV000618339 RCV001346566 RCV002491333 RCV003736862

NM_002471.4(MYH6):c.635C>T (p.Ala212Val)

SNV
Germline

Chr14:23404718

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA7116098

rs_780456381

3 SubmittersRCV000621731 RCV000624414 RCV000701024

NM_002471.4(MYH6):c.4666G>A (p.Glu1556Lys)

SNV
Germline

Chr14:23386608

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Atrial septal defect 3
Cardiovascular phenotype
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7114671

rs_148582147

5 SubmittersRCV000647064 RCV001029736 RCV002334166 RCV005240383 RCV005231226

NM_002471.4(MYH6):c.1410+1G>A

SNV
Germline

Chr14:23400708

Pathogenic

Heart, malformation of
Hypertrophic cardiomyopathy 14
MYH6-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA389023274

rs_1566513862

4 SubmittersRCV001836862 RCV003629132 RCV005250089 RCV006252718

NM_002471.4(MYH6):c.5661G>A (p.Ala1887=)

SNV
Germline

Chr14:23383225

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA7114322

rs_759126258

6 SubmittersRCV000701793 RCV001585650 RCV004639335 RCV005436023

NM_002471.4(MYH6):c.3618C>T (p.Gly1206=)

SNV
Germline

Chr14:23390171

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
Atrial septal defect 3
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Sick sinus syndrome 3, susceptibility to
Hypertrophic cardiomyopathy 1

Criteria Provided
Conflicting Classifications

CA7115119

rs_765103086

3 SubmittersRCV000685074 RCV002458195 RCV002477521

NM_002471.4(MYH6):c.2353C>T (p.Arg785Cys)

SNV
Germline

Chr14:23396360

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7115495

rs_543524943

3 SubmittersRCV001089006 RCV000786370 RCV002442514

NM_002471.4(MYH6):c.3867G>T (p.Leu1289Phe)

SNV
Germline

Chr14:23389504

Conflicting classifications of pathogenicity

Cardiomyopathy
Hypertrophic cardiomyopathy 14
not specified
Cardiovascular phenotype
MYH6-related disorder

Criteria Provided
Conflicting Classifications

CA7115030

rs_138127105

6 SubmittersRCV000769411 RCV000811499 RCV001193051 RCV002360876 RCV004735795

NM_002471.4(MYH6):c.2538G>A (p.Glu846=)

SNV
Germline

Chr14:23394215

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA485765233

rs_730880150

3 SubmittersRCV000770455 RCV002458380 RCV005092212

NM_002471.4(MYH6):c.503-8T>C

SNV
Germline

Chr14:23405135

Conflicting classifications of pathogenicity

Cardiomyopathy
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA913190873

rs_1566516373

2 SubmittersRCV000770457 RCV001490669

NM_002471.4(MYH6):c.2738A>G (p.Asn913Ser)

SNV
Germline

Chr14:23393856

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7115378

rs_138213182

2 SubmittersRCV000807107 RCV002440726

NM_002471.4(MYH6):c.2189T>C (p.Val730Ala)

SNV
Germline

Chr14:23396797

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
Sick sinus syndrome 3, susceptibility to
Atrial septal defect 3
Hypertrophic cardiomyopathy 1
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA7115550

rs_763963623

3 SubmittersRCV000813515 RCV002422808 RCV002487777

NM_002471.4(MYH6):c.345T>C (p.Tyr115=)

SNV
Germline

Chr14:23405627

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7116202

rs_770221652

3 SubmittersRCV000845484 RCV001858461 RCV004986653

NM_002471.4(MYH6):c.3979-2A>C

SNV
Germline

Chr14:23389057

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular cardiomyopathy
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
Atrial septal defect 3

Criteria Provided
Conflicting Classifications

CA7114960

rs_1158854454

4 SubmittersRCV000852694 RCV001299078 RCV002372387 RCV003994134

NM_002471.4(MYH6):c.1486G>A (p.Val496Met)

SNV
Germline

Chr14:23400351

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Atrial septal defect 3
Sick sinus syndrome 3, susceptibility to

Criteria Provided
Conflicting Classifications

CA7115796

rs_761085263

6 SubmittersRCV000983925 RCV001799018 RCV002391043 RCV003424518 RCV005012405

NM_002471.4(MYH6):c.3583C>A (p.Arg1195Ser)

SNV
Germline

Chr14:23390206

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7115136

rs_769756450

3 SubmittersRCV001066460 RCV001539628 RCV002339331

NM_002471.4(MYH6):c.3447C>T (p.Ser1149=)

SNV
Germline

Chr14:23390342

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Hypertrophic cardiomyopathy 1
Sick sinus syndrome 3, susceptibility to
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Atrial septal defect 3
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7115179

rs_564367705

3 SubmittersRCV001067003 RCV002497468 RCV004649448

NM_002471.4(MYH6):c.3178G>A (p.Asp1060Asn)

SNV
Germline

Chr14:23392985

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7115283

rs_775560235

3 SubmittersRCV001039248 RCV001170240 RCV002320244

NM_002471.4(MYH6):c.1885G>A (p.Asp629Asn)

SNV
Germline

Chr14:23398734

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hypertrophic cardiomyopathy 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7115687

rs_180904654

4 SubmittersRCV002407930 RCV003100917 RCV003321943

NM_002471.4(MYH6):c.354G>A (p.Ser118=)

SNV
Germline

Chr14:23405371

Conflicting classifications of pathogenicity

Cardiomyopathy
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7116184

rs_373427673

3 SubmittersRCV001170477 RCV002558709 RCV003163372

NM_002471.4(MYH6):c.1892-10C>T

SNV
Germline

Chr14:23397623

Conflicting classifications of pathogenicity

Cardiomyopathy
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA612933979

rs_1322705042

2 SubmittersRCV001170244 RCV001392748

NM_002471.4(MYH6):c.2807C>T (p.Ala936Val)

SNV
Germline

Chr14:23393787

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7115372

rs_199838024

6 SubmittersRCV001196001 RCV001726448 RCV001701304 RCV002436769

NM_002471.4(MYH6):c.2685G>A (p.Ala895=)

SNV
Germline

Chr14:23394068

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7115413

rs_752345245

4 SubmittersRCV001256741 RCV001550994 RCV001462525 RCV002430058

NM_002471.4(MYH6):c.5797-1G>A

SNV
Germline

Chr14:23382064

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA388981000

rs_1484679078

2 SubmittersRCV001281620 RCV003629183

NM_002471.4(MYH6):c.1411-12T>C

SNV
Germline

Chr14:23400438

Conflicting classifications of pathogenicity

Atrial septal defect 3
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA7115806

rs_749244720

2 SubmittersRCV001334046 RCV002070176

NM_002471.4(MYH6):c.3981G>A (p.Ala1327=)

SNV
Germline

Chr14:23389053

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
not specified

Criteria Provided
Conflicting Classifications

CA257782532

rs_904695058

2 SubmittersRCV001395339 RCV006457076

NM_002471.4(MYH6):c.3099G>A (p.Val1033=)

SNV
Germline

Chr14:23393348

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA257786669

rs_949717573

2 SubmittersRCV001453987 RCV004038531

NM_002471.4(MYH6):c.852C>T (p.Tyr284=)

SNV
Germline

Chr14:23403394

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA485611086

rs_1168415754

2 SubmittersRCV001498867 RCV005443370

NM_002471.4(MYH6):c.2717G>A (p.Arg906His)

SNV
Germline

Chr14:23393877

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
Hypertrophic cardiomyopathy 1
Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Atrial septal defect 3
Sick sinus syndrome 3, susceptibility to
not specified

Criteria Provided
Conflicting Classifications

CA7115381

rs_527636904

7 SubmittersRCV001700883 RCV001866269 RCV002425024 RCV002488471 RCV003323917

NM_002471.4(MYH6):c.5020G>A (p.Ala1674Thr)

SNV
Germline

Chr14:23386071

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7114568

rs_534560839

2 SubmittersRCV001919312 RCV004044142

NM_002471.4(MYH6):c.2064C>A (p.Asn688Lys)

SNV
Germline

Chr14:23397067

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA7115599

rs_769708956

3 SubmittersRCV001888265 RCV004041091 RCV006453780

NM_002471.4(MYH6):c.4985C>T (p.Ala1662Val)

SNV
Germline

Chr14:23386106

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7114579

rs_773445582

3 SubmittersRCV001866717 RCV002343894 RCV003426220

NM_002471.4(MYH6):c.1894G>A (p.Asp632Asn)

SNV
Germline

Chr14:23397611

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA257791258

rs_367607444

3 SubmittersRCV002300803 RCV005375092 RCV006470460

NM_002471.4(MYH6):c.5792C>T (p.Ala1931Val)

SNV
Germline

Chr14:23382432

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA388981104

rs_1233371859

2 SubmittersRCV002359779 RCV006470873

NM_002471.4(MYH6):c.2686-5C>T

SNV
Germline

Chr14:23393913

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA7115389

rs_765312755

2 SubmittersRCV002453155 RCV006471306

NM_002471.4(MYH6):c.5286G>A (p.Thr1762=)

SNV
Germline

Chr14:23384919

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA7114496

rs_770933834

2 SubmittersRCV002465031 RCV003629236

NM_002471.4(MYH6):c.5164-5T>G

SNV
Germline

Chr14:23385046

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy 14
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2123409579

rs_1890979278

2 SubmittersRCV002592198 RCV004985220

NM_002471.4(MYH6):c.324C>A (p.Arg108=)

SNV
Germline

Chr14:23405648

Conflicting classifications of pathogenicity

Condition: not provided
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA485765765

rs_1891763616

2 SubmittersRCV003131639 RCV003514604

NM_002471.4(MYH6):c.4794G>A (p.Ser1598=)

SNV
Germline

Chr14:23386480

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA257779046

rs_981486511

2 SubmittersRCV003177689 RCV003514615

NM_002471.4(MYH6):c.2430-5G>A

SNV
Germline

Chr14:23394328

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA613317566

rs_1176670439

2 SubmittersRCV003177704 RCV003629251

NM_002471.4(MYH6):c.2230A>G (p.Thr744Ala)

SNV
Germline

Chr14:23396756

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hypertrophic cardiomyopathy 14

Criteria Provided
Conflicting Classifications

CA389016993

rs_1366859659

2 SubmittersRCV003278392 RCV005102807

NM_002471.4(MYH6):c.4034T>C (p.Leu1345Pro)

SNV
Germline

Chr14:23389000

Pathogenic

Hypertrophic cardiomyopathy 14

Criteria Provided
Single Submitter

CA389002147

rs_2502153575

1 SubmittersRCV003630391

NM_002471.4(MYH6):c.5164-2A>G

SNV
Germline

Chr14:23385043

Likely pathogenic

Dilated cardiomyopathy 1EE
Hypertrophic cardiomyopathy 14
Atrial septal defect 3

Criteria Provided
Single Submitter

1 SubmittersRCV004771598

NM_002471.4(MYH6):c.4651-1G>A

SNV
Germline

Chr14:23386624

Likely pathogenic

Hypertrophic cardiomyopathy 14

Criteria Provided
Single Submitter

1 SubmittersRCV005882636