Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu)	SNV Germline	Chr1:237634937	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiomyopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA010282	rs_121918597	5 SubmittersRCV000013820 RCV000182746 RCV001798004 RCV003298032
NM_001035.3(RYR2):c.7422G>C (p.Arg2474Ser)	SNV Germline	Chr1:237648523	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	No Assertion Criteria Provided	CA010703	rs_121918598	1 SubmittersRCV000013821
NM_001035.3(RYR2):c.12312C>G (p.Asn4104Lys)	SNV Germline	Chr1:237784024	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	No Assertion Criteria Provided	CA007463	rs_121918599	1 SubmittersRCV000013822
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys)	SNV Germline	Chr1:237791441	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiovascular phenotype Cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA007921	rs_121918600	7 SubmittersRCV000013823 RCV000478561 RCV000617445 RCV003149571
NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile)	SNV Germline	Chr1:237640938	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA010563	rs_121918601	2 SubmittersRCV003151726
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro)	SNV Germline	Chr1:237454396	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia Long QT syndrome Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA007785	rs_121918602	4 SubmittersRCV000151756 RCV000190229 RCV000780694 RCV003151727
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser)	SNV Germline	Chr1:237639068	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA010458	rs_121918603	3 SubmittersRCV000013826
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe)	SNV Germline	Chr1:237798037	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA008087	rs_121918604	4 SubmittersRCV000013827
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg)	SNV Germline	Chr1:237784314	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA007638	rs_121918605	3 SubmittersRCV000013828
NM_001943.5(DSG2):c.166G>A (p.Val56Met)	SNV Germline	Chr18:31519887	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 10 Dilated cardiomyopathy 1BB not specified Arrhythmogenic right ventricular cardiomyopathy Primary familial hypertrophic cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Cardiomyopathy Condition: not provided Long QT syndrome DSG2-related disorder	Criteria Provided Conflicting Classifications	CA021523	rs_121913013	28 SubmittersRCV000018311 RCV000018312 RCV000037270 RCV000148471 RCV000157179 RCV000157180 RCV000243248 RCV000769508 RCV000757183 RCV000852739 RCV003944829
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)	SNV Germline	Chr1:237500774	Conflicting classifications of pathogenicity	not specified Ventricular fibrillation, paroxysmal familial, type 1 Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA008736	rs_193922623	12 SubmittersRCV000036714 RCV000157446 RCV000242970 RCV000287643 RCV001093912 RCV000786207 RCV001181067
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)	SNV Germline	Chr1:237566603	Conflicting classifications of pathogenicity	not specified Condition: not provided Primary dilated cardiomyopathy Cardiovascular phenotype Cardiomyopathy Cardiac arrhythmia Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA009157	rs_193922624	10 SubmittersRCV000036727 RCV000171675 RCV000157452 RCV000621688 RCV001190169 RCV001841541 RCV002513261
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)	SNV Germline	Chr1:237590901	Conflicting classifications of pathogenicity	Cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA009446	rs_193922626	7 SubmittersRCV000030422 RCV000154818 RCV001097194 RCV001097193 RCV003996140 RCV004018690
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)	SNV Germline	Chr1:237614714	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiac arrhythmia Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009888	rs_193922628	15 SubmittersRCV000036768 RCV000272540 RCV000252666 RCV000769786 RCV001093868 RCV001841543 RCV001530065 RCV003996141
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile)	SNV Germline	Chr14:90401385	Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 4 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA343809	rs_267607276	5 SubmittersRCV000032976 RCV000157133
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)	SNV Germline	Chr14:90404386	Pathogenic/Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 4 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 4 Long QT syndrome 14 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype CALM1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA343812	rs_267607277	10 SubmittersRCV000032977 RCV000157134 RCV000526484 RCV000714909 RCV002433484 RCV004758616
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)	SNV Germline	Chr1:115768445	Pathogenic/Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 2 Long QT syndrome Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA301925	rs_397507556	9 SubmittersRCV000170900 RCV000033942 RCV003318336 RCV005305949 RCV005428996 RCV002513332
NM_001035.3(RYR2):c.10142+4T>C	SNV Germline	Chr1:237709102	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA006541	rs_397516496	7 SubmittersRCV000036646 RCV001192358 RCV002513391 RCV001636621 RCV003996232 RCV004018802
NM_001035.3(RYR2):c.10324-4A>G	SNV Germline	Chr1:237717194	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Cardiomyopathy Condition: not provided Arrhythmogenic right ventricular dysplasia 2 RYR2-related disorder	Criteria Provided Conflicting Classifications	CA006610	rs_72751287	20 SubmittersRCV000036649 RCV000202863 RCV000246904 RCV000768787 RCV001528231 RCV001097852 RCV004534774
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=)	SNV Germline	Chr1:237723214	Conflicting classifications of pathogenicity	not specified Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA006725	rs_144256966	11 SubmittersRCV000036652 RCV000723746 RCV000391538 RCV000769800 RCV001093894 RCV003996236
NM_001035.3(RYR2):c.11092-6A>T	SNV Germline	Chr1:237742290	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA006880	rs_397516501	7 SubmittersRCV000036656 RCV000777803 RCV001709477 RCV002513394 RCV003996238
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser)	SNV Germline	Chr1:237759848	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA006987	rs_397516504	6 SubmittersRCV000036661 RCV001525529 RCV002496571 RCV003996240 RCV004566804 RCV002513397
NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg)	SNV Germline	Chr1:237441476	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007114	rs_397516506	4 SubmittersRCV000036665 RCV002482979 RCV002513400 RCV003996243
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr)	SNV Germline	Chr1:237783759	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Criteria Provided Conflicting Classifications	CA007324	rs_375021201	8 SubmittersRCV000036670 RCV000378772 RCV001182008 RCV001093785 RCV000766732 RCV003996246 RCV004018804 RCV002482980
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)	SNV Germline	Chr1:237783871	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007352	rs_41267517	17 SubmittersRCV000036671 RCV000247809 RCV000349414 RCV000724810 RCV000769809 RCV001093786 RCV003996247
NM_001035.3(RYR2):c.12544G>C (p.Glu4182Gln)	SNV Germline	Chr1:237784256	Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA007580	rs_397516508	4 SubmittersRCV000036672 RCV000182821 RCV004786309 RCV005403741
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)	SNV Germline	Chr1:237784417	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA007686	rs_373606009	15 SubmittersRCV000036673 RCV000724635 RCV000620335 RCV000777965 RCV002513401 RCV003996248 RCV004541104
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=)	SNV Germline	Chr1:237784849	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007810	rs_369917806	10 SubmittersRCV000036675 RCV000617184 RCV001101824 RCV001529567 RCV000777845 RCV001101823 RCV003996249
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr)	SNV Germline	Chr1:237791480	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA007947	rs_397516510	9 SubmittersRCV000036678 RCV000231726 RCV000208469 RCV000786402 RCV000769812
NM_001035.3(RYR2):c.14167G>A (p.Ala4723Thr)	SNV Germline	Chr1:237806152	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008183	rs_397516514	6 SubmittersRCV000036693 RCV001175858 RCV001797049 RCV002513407 RCV003162319 RCV003996256
NM_001035.3(RYR2):c.1476+4C>T	SNV Germline	Chr1:237454578	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA008377	rs_369442980	10 SubmittersRCV000036701 RCV000243869 RCV000771887 RCV001705662 RCV002513409
NM_001035.3(RYR2):c.1548T>C (p.Asp516=)	SNV Germline	Chr1:237456671	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008488	rs_146129084	13 SubmittersRCV000036706 RCV000618567 RCV001100322 RCV001100323 RCV000771845 RCV001528256 RCV003996261
NM_001035.3(RYR2):c.2719-4T>A	SNV Germline	Chr1:237511684	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008938	rs_397516523	6 SubmittersRCV000036720 RCV000769779 RCV004018806 RCV002513413 RCV003996267
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)	SNV Germline	Chr1:237511729	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008950	rs_186181155	18 SubmittersRCV000036721 RCV000368575 RCV000618697 RCV000724532 RCV000769780 RCV001093756 RCV003996268
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)	SNV Germline	Chr1:237550629	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Criteria Provided Conflicting Classifications	CA009104	rs_79457258	17 SubmittersRCV000036724 RCV000726778 RCV001178115 RCV001248788 RCV003996271 RCV004018807 RCV005394223
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)	SNV Germline	Chr1:237550630	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA009112	rs_397516524	7 SubmittersRCV000036725 RCV000251649 RCV000769782 RCV001097096 RCV001097097
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala)	SNV Germline	Chr1:237566582	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA009141	rs_202176504	6 SubmittersRCV000036726 RCV001191833 RCV002444472 RCV002513414
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)	SNV Germline	Chr1:237566672	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Death in infancy Condition: not provided Cardiomyopathy Cardiovascular phenotype RYR2-related disorder	Criteria Provided Conflicting Classifications	CA009188	rs_200236750	14 SubmittersRCV000036728 RCV000171761 RCV000234976 RCV000656971 RCV000771794 RCV000620350 RCV004541106
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)	SNV Germline	Chr1:237566732	Conflicting classifications of pathogenicity	not specified Condition: not provided Sudden cardiac death Hypertrophic cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Sudden unexplained death Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA009209	rs_200525962	17 SubmittersRCV000036729 RCV000171762 RCV000157454 RCV001293091 RCV001098853 RCV001098854 RCV000769783 RCV001254751 RCV002453307
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)	SNV Germline	Chr1:237589915	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA009332	rs_185715460	10 SubmittersRCV000036736 RCV000768761 RCV000724637 RCV001824587 RCV003996277 RCV004018809
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=)	SNV Germline	Chr1:237590900	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA009440	rs_199821105	9 SubmittersRCV000036739 RCV000405365 RCV001719733 RCV001189398 RCV001093761 RCV002321507 RCV003996279 RCV004739325
NM_001035.3(RYR2):c.4160+7A>G	SNV Germline	Chr1:237590999	Conflicting classifications of pathogenicity	not specified Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA009481	rs_377465289	5 SubmittersRCV000036742 RCV000726257 RCV002513420
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=)	SNV Germline	Chr1:237610812	Conflicting classifications of pathogenicity	not specified Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009663	rs_201880756	9 SubmittersRCV000036755 RCV000589910 RCV000300038 RCV000620163 RCV000771249 RCV001093874 RCV003996285
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln)	SNV Germline	Chr1:237377365	Pathogenic/Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA009771	rs_397516539	6 SubmittersRCV000036762 RCV000182658 RCV000621755 RCV002513428
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)	SNV Germline	Chr1:237614747	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009911	rs_373282364	15 SubmittersRCV000036769 RCV000245051 RCV000309384 RCV001093879 RCV000777598 RCV001528654 RCV003996292
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)	SNV Germline	Chr1:237627977	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Condition: not provided Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA010110	rs_186906598	11 SubmittersRCV000036777 RCV000171764 RCV000620555 RCV000766718 RCV000769789 RCV001099125 RCV004803128
NM_001035.3(RYR2):c.684C>T (p.Leu228=)	SNV Germline	Chr1:237388094	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA010348	rs_72549417	11 SubmittersRCV000036782 RCV000265346 RCV000589666 RCV000768754 RCV001093846 RCV003996296 RCV002362626
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)	SNV Germline	Chr1:237649983	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Cardiomyopathy RYR2-related disorder Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA010752	rs_200105499	9 SubmittersRCV000036792 RCV000252890 RCV000766722 RCV001170261 RCV004534780 RCV002513440
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)	SNV Germline	Chr1:237657976	Conflicting classifications of pathogenicity	not specified Condition: not provided Wolff-Parkinson-White pattern Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA010859	rs_201500134	19 SubmittersRCV000036794 RCV000227013 RCV000656198 RCV000590879 RCV000621651 RCV000771869 RCV001095884 RCV001095885 RCV004803129 RCV004541108
NM_001035.3(RYR2):c.8209-3A>G	SNV Germline	Chr1:237659982	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy with left ventricular noncompaction Cardiovascular phenotype Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 RYR2-related disorder	Criteria Provided Conflicting Classifications	CA010885	rs_376788358	8 SubmittersRCV000036795 RCV000678751 RCV000621356 RCV001175859 RCV001719734 RCV002513441 RCV004534781
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr)	SNV Germline	Chr1:237660820	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA010940	rs_397516550	7 SubmittersRCV000036796 RCV001095886 RCV001095887 RCV001175860 RCV002496576 RCV003996303 RCV004017312
NM_001035.3(RYR2):c.9067+12C>T	SNV Germline	Chr1:237687516	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA011108	rs_112365440	11 SubmittersRCV000036802 RCV001101435 RCV001101436 RCV001529841
NM_001035.3(RYR2):c.9450-3T>C	SNV Germline	Chr1:237705210	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA011215	rs_188671846	9 SubmittersRCV000036805 RCV000621928 RCV001573377 RCV001182491 RCV002513443
NM_001035.3(RYR2):c.998C>T (p.Ser333Phe)	SNV Germline	Chr1:237423241	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA011384	rs_397516552	4 SubmittersRCV000036809 RCV001175861 RCV002513447 RCV003996307
NM_001232.4(CASQ2):c.1148A>G (p.Asp383Gly)	SNV Germline	Chr1:115701293	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA133693	rs_397516640	5 SubmittersRCV000037132 RCV004018828 RCV002513461 RCV003343611 RCV005600630
NM_001232.4(CASQ2):c.198G>A (p.Thr66=)	SNV Germline	Chr1:115768344	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2	Criteria Provided Conflicting Classifications	CA282346	rs_74114618	9 SubmittersRCV000037137 RCV000585900 RCV000768706 RCV002513466 RCV001093917
NM_001232.4(CASQ2):c.421-14G>A	SNV Germline	Chr1:115738349	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 1 CASQ2-related disorder	Criteria Provided Conflicting Classifications	CA210965	rs_139281637	8 SubmittersRCV000037140 RCV000625054 RCV002513469 RCV003952428
NM_001232.4(CASQ2):c.421-15C>G	SNV Germline	Chr1:115738350	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA133704	rs_199939582	8 SubmittersRCV000037141 RCV000625055 RCV002513470
NM_001232.4(CASQ2):c.421-15C>T	SNV Germline	Chr1:115738350	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA133705	rs_199939582	4 SubmittersRCV000037142 RCV001100490 RCV002513471
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val)	SNV Germline	Chr1:115738275	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 CASQ2-related disorder	Criteria Provided Conflicting Classifications	CA133706	rs_146333579	6 SubmittersRCV000037143 RCV000244068 RCV001719739 RCV003103723 RCV004757956
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)	SNV Germline	Chr1:156136257	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2 Cardiomyopathy Charcot-Marie-Tooth disease Cardiovascular phenotype Primary dilated cardiomyopathy not specified 11 conditions	Criteria Provided Conflicting Classifications	CA016870	rs_61094188	20 SubmittersRCV000057258 RCV000157295 RCV000172002 RCV000528639 RCV000769728 RCV001172616 RCV002345327 RCV003996453 RCV004767033 RCV005042118
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter)	SNV Germline	Chr6:123503899	Pathogenic/Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 5 Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 5 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Multiple Submitters No Conflicts	CA144820	rs_397515458	8 SubmittersRCV000056260 RCV003103726 RCV000484797 RCV002354248 RCV002496743 RCV004017360
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys)	SNV Germline	Chr4:113360849	Conflicting classifications of pathogenicity	Congenital long QT syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiac arrhythmia, ankyrin-B-related Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA329720	rs_180843436	7 SubmittersRCV000058340 RCV000143869 RCV000375362 RCV002483106 RCV000818116 RCV004019025
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)	SNV Germline	Chr3:38633256	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype not specified Cardiac arrhythmia Arrhythmogenic right ventricular cardiomyopathy Brugada syndrome 1 Dilated cardiomyopathy 1E Sick sinus syndrome 1 Progressive familial heart block, type 1A Ventricular fibrillation, paroxysmal familial, type 1 Long QT syndrome 3	Criteria Provided Conflicting Classifications	CA019099	rs_199473044	11 SubmittersRCV000058764 RCV000157474 RCV000619162 RCV000212988 RCV001842382 RCV000623091 RCV000987246 RCV001146622 RCV001146621 RCV001146623 RCV001146624 RCV001146625
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=)	SNV Germline	Chr1:237550657	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009126	rs_398123540	7 SubmittersRCV000079379 RCV000723751 RCV001181117 RCV002515761 RCV003162508 RCV003997205
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)	SNV Germline	Chr1:237423225	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Wolff-Parkinson-White pattern Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA011326	rs_201669522	9 SubmittersRCV000079381 RCV000391386 RCV000656194 RCV001093747 RCV001189215 RCV002498396 RCV003380409 RCV003997206
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)	SNV Germline	Chr1:237590720	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 RYR2-related disorder Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009386	rs_373721253	16 SubmittersRCV000151759 RCV000617215 RCV000724268 RCV000768762 RCV002514691 RCV004544282 RCV003997457
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=)	SNV Germline	Chr1:237614699	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009882	rs_371934582	9 SubmittersRCV000151763 RCV000621601 RCV000402454 RCV001093867 RCV001190173 RCV003221817 RCV003997458
NM_001035.3(RYR2):c.10017C>T (p.His3339=)	SNV Germline	Chr1:237708973	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA006488	rs_376439588	13 SubmittersRCV000127846 RCV000263240 RCV000619991 RCV000858422 RCV001093729 RCV001186657 RCV003997463 RCV004544284
NM_001035.3(RYR2):c.10231-5C>T	SNV Germline	Chr1:237711740	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA006571	rs_186326951	12 SubmittersRCV000127848 RCV000373146 RCV000777784 RCV001093730 RCV001705921 RCV002371972
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)	SNV Germline	Chr1:237610770	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Primary familial hypertrophic cardiomyopathy not specified Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009643	rs_201675951	7 SubmittersRCV000143946 RCV000157455 RCV000182725 RCV000766716 RCV001186230 RCV002514771 RCV003998155
NM_001035.3(RYR2):c.6433G>C (p.Gly2145Arg)	SNV Germline	Chr1:237628073	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA010129	rs_587782974	6 SubmittersRCV000143947 RCV003314565 RCV003998156 RCV004019757 RCV002515937
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)	SNV Germline	Chr1:237548562	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA009033	rs_149514924	15 SubmittersRCV000148833 RCV000182707 RCV000589142 RCV000619628 RCV000771801 RCV001102502
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val)	SNV Germline	Chr1:237648594	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA010721	rs_374191985	7 SubmittersRCV000148832 RCV000769796 RCV002288659 RCV002390314
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp)	SNV Germline	Chr1:115701310	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA175352	rs_148824162	5 SubmittersRCV000150219 RCV000618959 RCV002514879
NM_001232.4(CASQ2):c.923C>A (p.Pro308Gln)	SNV Germline	Chr1:115705208	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA175358	rs_139228801	2 SubmittersRCV000150221 RCV002516016
NM_001232.4(CASQ2):c.270C>A (p.Gly90=)	SNV Germline	Chr1:115744877	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA181174	rs_72554056	6 SubmittersRCV000154690 RCV001093916 RCV002516107 RCV002426743
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)	SNV Germline	Chr1:237387353	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA010179	rs_200642525	13 SubmittersRCV000151754 RCV000171760 RCV000619874 RCV000415633 RCV001171188 RCV001098450
NM_001035.3(RYR2):c.1612+13A>G	SNV Germline	Chr1:237456748	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA008512	rs_368200572	5 SubmittersRCV000156613 RCV000339701 RCV000393529 RCV001701536
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)	SNV Germline	Chr1:237493065	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA008643	rs_202040519	9 SubmittersRCV000154813 RCV000656970 RCV000771900 RCV000619369 RCV002470780 RCV002478454 RCV003147363 RCV003147362
NM_001035.3(RYR2):c.2755G>A (p.Val919Met)	SNV Germline	Chr1:237511724	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA008944	rs_201079716	9 SubmittersRCV000154815 RCV000515405 RCV001186656 RCV002514976 RCV002433679 RCV001256781
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)	SNV Germline	Chr1:237548459	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA008979	rs_202015519	7 SubmittersRCV000154816 RCV000246594 RCV000766712 RCV001100557 RCV001100558 RCV001178122
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)	SNV Germline	Chr1:237595526	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Long QT syndrome Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA009541	rs_200450676	12 SubmittersRCV000154819 RCV000515200 RCV000678836 RCV000725016 RCV000768765 RCV002326882 RCV002514978
NM_001035.3(RYR2):c.6689-12T>C	SNV Germline	Chr1:237634877	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA010256	rs_370972311	7 SubmittersRCV000151764 RCV000306276 RCV000405632 RCV000771789 RCV003221825
NM_001035.3(RYR2):c.6983C>T (p.Pro2328Leu)	SNV Germline	Chr1:237639069	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA010470	rs_727503401	6 SubmittersRCV000151765 RCV001177588 RCV002514927 RCV003998222 RCV005394511
NM_001035.3(RYR2):c.7076G>A (p.Arg2359Gln)	SNV Germline	Chr1:237639162	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA010522	rs_727504976	5 SubmittersRCV000156389 RCV001804869 RCV002515017 RCV003998312 RCV004658976
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)	SNV Germline	Chr1:237706987	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA011262	rs_372601642	8 SubmittersRCV000154822 RCV000266128 RCV000777709 RCV000618927 RCV001093778 RCV003998277
NM_001035.3(RYR2):c.10495-14A>G	SNV Germline	Chr1:237718448	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA006644	rs_727505057	4 SubmittersRCV000156487 RCV000346271 RCV000384549 RCV001185015
NM_001035.3(RYR2):c.12859T>C (p.Tyr4287His)	SNV Germline	Chr1:237784571	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007731	rs_190009333	5 SubmittersRCV000151774 RCV000777991 RCV002381474 RCV003153435 RCV003998228
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)	SNV Germline	Chr1:237785999	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Left ventricular noncompaction Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Condition: not provided Hypertrophic cardiomyopathy Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007871	rs_571985775	15 SubmittersRCV000151775 RCV000577997 RCV000577938 RCV000578054 RCV000620731 RCV000766733 RCV000852418 RCV000777878 RCV003998229
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=)	SNV Germline	Chr1:237819086	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA008287	rs_370996795	9 SubmittersRCV000154826 RCV000726399 RCV000618720 RCV001170492 RCV002516113
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)	SNV Germline	Chr1:115705203	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA175355	rs_141314684	8 SubmittersRCV000150220 RCV000617384 RCV000766689 RCV001096938 RCV001170441 RCV002516015
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)	SNV Germline	Chr1:115732940	Conflicting classifications of pathogenicity	not specified Polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 2 Cardiovascular phenotype Condition: not provided Cardiomyopathy Sudden unexplained death Catecholaminergic polymorphic ventricular tachycardia 1 CASQ2-related disorder	Criteria Provided Conflicting Classifications	CA175364	rs_146664754	19 SubmittersRCV000150224 RCV000171562 RCV000415704 RCV000617394 RCV000723880 RCV000852589 RCV000999608 RCV002516017 RCV003945182
NM_001232.4(CASQ2):c.533-6C>T	SNV Germline	Chr1:115732980	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA175367	rs_545407254	4 SubmittersRCV000150225 RCV001100487 RCV002514881 RCV003326359
NM_001035.3(RYR2):c.365G>A (p.Arg122His)	SNV Germline	Chr1:237369589	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009317	rs_727503396	7 SubmittersRCV000151753 RCV000157442 RCV000620852 RCV001804860 RCV003998216
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)	SNV Germline	Chr1:237491919	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA008596	rs_727504718	9 SubmittersRCV000156007 RCV000477834 RCV000766708 RCV001177069 RCV002515008 RCV002408693
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys)	SNV Germline	Chr1:237506807	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy RYR2-related disorder Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA008925	rs_201131315	9 SubmittersRCV000156225 RCV000171674 RCV000620905 RCV000777596 RCV004739483 RCV002515012
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)	SNV Germline	Chr1:237548578	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009048	rs_113422365	9 SubmittersRCV000154814 RCV000252643 RCV000777999 RCV001102503 RCV001102504 RCV003998274
NM_001035.3(RYR2):c.3238G>A (p.Gly1080Ser)	SNV Germline	Chr1:237566590	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype Condition: not provided Cardiomyopathy	Criteria Provided Conflicting Classifications	CA009148	rs_727504969	6 SubmittersRCV000156381 RCV002515016 RCV003998311 RCV004984693 RCV005600751 RCV005402857
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln)	SNV Germline	Chr1:237591819	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA009503	rs_727504850	8 SubmittersRCV000156199 RCV001179108 RCV002516154 RCV003998302 RCV001572495 RCV003227678 RCV005404281
NM_001035.3(RYR2):c.7513-8T>G	SNV Germline	Chr1:237649869	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA010725	rs_727503402	4 SubmittersRCV000151767 RCV001177589 RCV003998224 RCV002516052
NM_001035.3(RYR2):c.10231-4T>C	SNV Germline	Chr1:237711741	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA006564	rs_117180147	16 SubmittersRCV000154633 RCV000253861 RCV000333639 RCV000587853 RCV000768786 RCV001093782
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)	SNV Germline	Chr1:237732051	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 RYR2-related disorder Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA006813	rs_370332882	17 SubmittersRCV000151772 RCV000229147 RCV000621644 RCV000769804 RCV001096209 RCV001096208 RCV004544362 RCV003998227
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala)	SNV Germline	Chr11:47350016	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 not specified Cardiomyopathy Hypertrophic cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA015270	rs_727505267	8 SubmittersRCV000157303 RCV000156792 RCV001170215 RCV000811160 RCV003320578 RCV002336338
NM_001035.3(RYR2):c.3808-9G>A	SNV Germline	Chr1:237590631	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA009359	rs_557880129	2 SubmittersRCV000153875 RCV002516096
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)	SNV Germline	Chr1:237830577	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia not specified Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 RYR2-related disorder	Criteria Provided Conflicting Classifications	CA008343	rs_201371633	10 SubmittersRCV000153880 RCV000279576 RCV000378694 RCV000780696 RCV000619036 RCV000771788 RCV002516099 RCV004544403
NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr)	SNV Germline	Chr1:237454416	Conflicting classifications of pathogenicity	Long QT syndrome Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA007818	rs_371878264	5 SubmittersRCV000157443 RCV002381509 RCV002516363 RCV002478470 RCV005051754
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu)	SNV Germline	Chr1:237492973	Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008618	rs_730880187	3 SubmittersRCV000157444 RCV000413365
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)	SNV Germline	Chr1:237500896	Conflicting classifications of pathogenicity	Long QT syndrome Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA008789	rs_200121281	8 SubmittersRCV000157447 RCV000590785 RCV001191829 RCV003103738 RCV003998338 RCV002453531
NM_001035.3(RYR2):c.5420G>A (p.Arg1807Gln)	SNV Germline	Chr1:237614548	Conflicting classifications of pathogenicity	Long QT syndrome Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009854	rs_730880192	4 SubmittersRCV000157457 RCV001176787 RCV002515052 RCV003998340
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)	SNV Germline	Chr1:237657959	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA010841	rs_200420897	15 SubmittersRCV000157460 RCV000212982 RCV000171765 RCV000618062 RCV000769797 RCV001095882 RCV001095883 RCV003998341
NM_001035.3(RYR2):c.8209-4T>C	SNV Germline	Chr1:237659981	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Cardiovascular phenotype Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA010897	rs_371966353	6 SubmittersRCV000157461 RCV000252027 RCV000769798 RCV000929242 RCV002515053
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg)	SNV Germline	Chr1:237700452	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA011170	rs_730880194	3 SubmittersRCV000157462 RCV004804674
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val)	SNV Germline	Chr1:237784037	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007471	rs_730880196	3 SubmittersRCV000157465 RCV000242944
NM_001035.3(RYR2):c.14726C>T (p.Thr4909Ile)	SNV Germline	Chr1:237830600	Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	No Assertion Criteria Provided	CA008359	rs_730880201	1 SubmittersRCV000157470
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)	SNV Germline	Chr1:115705208	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2	Criteria Provided Multiple Submitters No Conflicts	CA301936	rs_139228801	5 SubmittersRCV000170910 RCV000618569 RCV002516550 RCV003343669
NM_001232.4(CASQ2):c.878G>C (p.Arg293Pro)	SNV Germline	Chr1:115705253	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2	Criteria Provided Conflicting Classifications	CA301907	rs_377691566	3 SubmittersRCV000170893 RCV002515230 RCV003343667
NM_001232.4(CASQ2):c.809T>C (p.Ile270Thr)	SNV Germline	Chr1:115717869	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA301904	rs_762381137	2 SubmittersRCV000170892 RCV003103739
NM_001232.4(CASQ2):c.606+1G>C	SNV Germline	Chr1:115732900	Pathogenic/Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2	Criteria Provided Multiple Submitters No Conflicts	CA301900	rs_786205791	3 SubmittersRCV000170889 RCV002517644 RCV003338440
NM_001035.3(RYR2):c.659G>A (p.Gly220Glu)	SNV Germline	Chr1:237387363	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA010239	rs_786205454	2 SubmittersRCV000171171 RCV002516554
NM_001035.3(RYR2):c.9407G>A (p.Ser3136Asn)	SNV Germline	Chr1:237702017	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA011190	rs_748194372	5 SubmittersRCV000171172 RCV001180081 RCV002516555 RCV004804782 RCV005480326
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu)	SNV Germline	Chr1:237709002	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular cardiomyopathy not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA006517	rs_786205455	7 SubmittersRCV000171173 RCV000208443 RCV000611661 RCV002399612 RCV002470784
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn)	SNV Germline	Chr1:115701255	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 2 Progressive familial heart block Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 1 not specified	Criteria Provided Conflicting Classifications	CA236665	rs_368007942	12 SubmittersRCV000171631 RCV001102335 RCV002285273 RCV002326939 RCV002515246 RCV002485093 RCV003488420
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His)	SNV Germline	Chr1:237595506	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA009533	rs_373024059	9 SubmittersRCV000171763 RCV000212979 RCV000773225 RCV001098955 RCV001100766 RCV002326941
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)	SNV Germline	Chr1:237623771	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiomyopathy Conduction disorder of the heart Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA010073	rs_200318013	11 SubmittersRCV000171678 RCV000212981 RCV001170254 RCV001256774 RCV002354428 RCV002515249
NM_001035.3(RYR2):c.7807G>A (p.Ala2603Thr)	SNV Germline	Chr1:237651484	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA010771	rs_59331340	5 SubmittersRCV000171680 RCV001179789 RCV002515250 RCV005268558
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys)	SNV Germline	Chr1:237726282	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 RYR2-related disorder	Criteria Provided Conflicting Classifications	CA006749	rs_559154874	7 SubmittersRCV000171685 RCV000771978 RCV002408743 RCV002516562 RCV004739552
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)	SNV Germline	Chr1:237784631	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 RYR2-related disorder	Criteria Provided Conflicting Classifications	CA007750	rs_200092869	11 SubmittersRCV000171768 RCV000212983 RCV000618657 RCV000776390 RCV001101822 RCV001101821 RCV004539578
NM_001035.3(RYR2):c.13267A>C (p.Lys4423Gln)	SNV Germline	Chr1:237785975	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA007852	rs_376908332	6 SubmittersRCV000171687 RCV001179790 RCV002381551 RCV003995651 RCV002516563
NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser)	SNV Germline	Chr1:237792141	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA007989	rs_199624074	8 SubmittersRCV000171688 RCV000212984 RCV001185803 RCV002381552 RCV003995652 RCV002516564
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met)	SNV Germline	Chr1:237792253	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008025	rs_200803276	8 SubmittersRCV000171689 RCV001179791 RCV002381553 RCV002478547 RCV002515251 RCV003995653
NM_001035.3(RYR2):c.2449C>G (p.Pro817Ala)	SNV Germline	Chr1:237503341	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008854	rs_780266883	5 SubmittersRCV000176274 RCV000778017 RCV002516704 RCV003995683
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)	SNV Germline	Chr1:237566708	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 not specified	Criteria Provided Conflicting Classifications	CA009195	rs_201312753	9 SubmittersRCV000724470 RCV000771974 RCV002321702 RCV002298503 RCV002517704 RCV003993857
NM_001035.3(RYR2):c.5712G>A (p.Leu1904=)	SNV Germline	Chr1:237614840	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA009982	rs_377763336	5 SubmittersRCV000177899 RCV001526096 RCV001256934 RCV002516758 RCV005480329
NM_001035.3(RYR2):c.10059C>A (p.Leu3353=)	SNV Germline	Chr1:237709015	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA006532	rs_370015676	4 SubmittersRCV000179682 RCV001185488 RCV002516798 RCV003996584
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)	SNV Germline	Chr1:237042540	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008658	rs_779910353	6 SubmittersRCV000182770 RCV001184236 RCV001192694 RCV002415776 RCV002515331 RCV003996768
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu)	SNV Germline	Chr1:237042558	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA009352	rs_794728761	4 SubmittersRCV000242738 RCV000551463 RCV002516887 RCV004791307
NM_001035.3(RYR2):c.184C>T (p.Leu62Phe)	SNV Germline	Chr1:237330893	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008629	rs_794728813	6 SubmittersRCV000182857 RCV001177415 RCV003165394 RCV002517806 RCV003996790
NM_001035.3(RYR2):c.239A>G (p.Glu80Gly)	SNV Germline	Chr1:237330948	Pathogenic	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA008831	rs_794728706	2 SubmittersRCV000477870 RCV002516866
NM_001035.3(RYR2):c.309+5G>T	SNV Germline	Chr1:237364377	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA009078	rs_794728695	3 SubmittersRCV000182606 RCV002321720 RCV002517780
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)	SNV Germline	Chr1:237377386	Pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype RYR2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA009819	rs_794728708	8 SubmittersRCV000182659 RCV000208033 RCV001332696 RCV002345634 RCV005222807
NM_001035.3(RYR2):c.689G>A (p.Gly230Asp)	SNV Germline	Chr1:237388099	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA010368	rs_794728710	2 SubmittersRCV000182662 RCV002517787
NM_001035.3(RYR2):c.796G>A (p.Ala266Thr)	SNV Germline	Chr1:237417071	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA010816	rs_373326624	5 SubmittersRCV000182859 RCV001179067 RCV002516904 RCV003996791 RCV004020197
NM_001035.3(RYR2):c.818C>T (p.Ser273Phe)	SNV Germline	Chr1:237417093	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA010869	rs_794728715	2 SubmittersRCV000182668 RCV002515319
NM_001035.3(RYR2):c.848+1G>A	SNV Germline	Chr1:237417124	Conflicting classifications of pathogenicity	not specified Condition: not provided Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA011045	rs_772984053	6 SubmittersRCV000182860 RCV000766706 RCV000999616 RCV003532035 RCV002517807
NM_001035.3(RYR2):c.1144G>A (p.Val382Met)	SNV Germline	Chr1:237441457	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype not specified Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007019	rs_370057029	10 SubmittersRCV000182675 RCV000202980 RCV000777719 RCV002453657 RCV003993869 RCV003996741
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)	SNV Germline	Chr1:237445470	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007513	rs_764698152	9 SubmittersRCV000182678 RCV000251690 RCV001186513 RCV002516868 RCV004804792
NM_001035.3(RYR2):c.1250G>T (p.Arg417Leu)	SNV Germline	Chr1:237445480	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007552	rs_751428303	3 SubmittersRCV000182679 RCV005089914 RCV002408797
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)	SNV Germline	Chr1:237445488	Pathogenic	Condition: not provided Ventricular fibrillation Catecholaminergic polymorphic ventricular tachycardia Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA007622	rs_190140598	12 SubmittersRCV000182680 RCV000202619 RCV000219729 RCV000515377 RCV001194068 RCV002426877 RCV002470799
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln)	SNV Germline	Chr1:237445489	Pathogenic	Condition: not provided Long QT syndrome Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA007630	rs_794728721	8 SubmittersRCV000182681 RCV000190228 RCV000617576 RCV002288789
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val)	SNV Germline	Chr1:237454417	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007828	rs_758904216	7 SubmittersRCV000182619 RCV000509223 RCV001186512 RCV002381594 RCV003996725
NM_001035.3(RYR2):c.1342C>G (p.Pro448Ala)	SNV Germline	Chr1:237454440	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA007906	rs_369933531	2 SubmittersRCV000182682 RCV003765126
NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln)	SNV Germline	Chr1:237454552	Conflicting classifications of pathogenicity	not specified Ventricular tachycardia Cardiomyopathy Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008294	rs_752144775	9 SubmittersRCV000182863 RCV000208338 RCV000777944 RCV002223808 RCV002390467 RCV002515340 RCV003996792
NM_001035.3(RYR2):c.1561G>A (p.Glu521Lys)	SNV Germline	Chr1:237456684	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA008495	rs_759494098	4 SubmittersRCV000182684 RCV001189917 RCV002399658 RCV002516869
NM_001035.3(RYR2):c.1614G>A (p.Ala538=)	SNV Germline	Chr1:237469093	Conflicting classifications of pathogenicity	Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia not specified	Criteria Provided Conflicting Classifications	CA008528	rs_566885717	5 SubmittersRCV000621292 RCV001179341 RCV002515321 RCV003996743 RCV005437977
NM_001035.3(RYR2):c.1641C>A (p.Asn547Lys)	SNV Germline	Chr1:237469120	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA008535	rs_794728722	3 SubmittersRCV000182686 RCV002399659 RCV002516870
NM_001035.3(RYR2):c.1646C>T (p.Ala549Val)	SNV Germline	Chr1:237469125	Likely pathogenic	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA008543	rs_794728817	1 SubmittersRCV001801232
NM_001035.3(RYR2):c.1675A>G (p.Ile559Val)	SNV Germline	Chr1:237469154	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA008550	rs_773609522	4 SubmittersRCV000182687 RCV001804914 RCV002399660 RCV003765127
NM_001035.3(RYR2):c.2253T>G (p.Thr751=)	SNV Germline	Chr1:237500760	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008732	rs_762905211	7 SubmittersRCV000182621 RCV001100450 RCV001102404 RCV001184503 RCV002444732 RCV003996726
NM_001035.3(RYR2):c.2574G>A (p.Thr858=)	SNV Germline	Chr1:237503466	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008888	rs_367992907	13 SubmittersRCV000182624 RCV000404420 RCV000619882 RCV000769778 RCV001093754 RCV001172025 RCV003996727
NM_001035.3(RYR2):c.2629C>T (p.His877Tyr)	SNV Germline	Chr1:237506725	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008904	rs_372575878	5 SubmittersRCV000182701 RCV000619081 RCV001189147 RCV002516875 RCV003996749
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser)	SNV Germline	Chr1:237530432	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA008963	rs_373665895	8 SubmittersRCV000182703 RCV001189148 RCV001797667 RCV002516876 RCV002433804 RCV003227702 RCV003996750
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)	SNV Germline	Chr1:237550628	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009097	rs_533330664	11 SubmittersRCV000182708 RCV000456036 RCV001191860 RCV002254283 RCV002321722 RCV002516878 RCV003996752
NM_001035.3(RYR2):c.3517A>G (p.Met1173Val)	SNV Germline	Chr1:237569238	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA009247	rs_762372863	6 SubmittersRCV000182625 RCV001100668 RCV001100667 RCV001189913 RCV003996728 RCV005404352
NM_001035.3(RYR2):c.3950C>T (p.Thr1317Met)	SNV Germline	Chr1:237590782	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA009414	rs_752107643	4 SubmittersRCV000182717 RCV002354480 RCV002500539 RCV002515324
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val)	SNV Germline	Chr1:237590926	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Criteria Provided Conflicting Classifications	CA009452	rs_373261115	8 SubmittersRCV000182870 RCV000415707 RCV000777782 RCV001093762 RCV002321724 RCV003227703
NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala)	SNV Germline	Chr1:237590928	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009456	rs_369982130	5 SubmittersRCV000182629 RCV001189914 RCV002321721 RCV002517783 RCV003996730
NM_001035.3(RYR2):c.4503C>A (p.Asn1501Lys)	SNV Germline	Chr1:237595564	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA009547	rs_794728735	2 SubmittersRCV000182722 RCV003765128
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)	SNV Germline	Chr1:237602080	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA009626	rs_185237690	10 SubmittersRCV000490424 RCV000619293 RCV000776180 RCV001100767 RCV001704872 RCV003235105
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala)	SNV Germline	Chr1:237610771	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy not specified	Criteria Provided Conflicting Classifications	CA009653	rs_778783933	4 SubmittersRCV000986578 RCV001188477 RCV002222429
NM_001035.3(RYR2):c.4780G>A (p.Val1594Ile)	SNV Germline	Chr1:237610858	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA009693	rs_794728737	3 SubmittersRCV000182727 RCV000778053 RCV003105815
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys)	SNV Germline	Chr1:237614298	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA009802	rs_794728740	4 SubmittersRCV000182731 RCV002336457 RCV002515328 RCV003318367
NM_001035.3(RYR2):c.5373C>A (p.Thr1791=)	SNV Germline	Chr1:237614501	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009837	rs_765283048	6 SubmittersRCV000182632 RCV000406951 RCV000777693 RCV001093820 RCV002345633 RCV003996731
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)	SNV Germline	Chr1:237614716	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA009896	rs_770863319	10 SubmittersRCV000182732 RCV000618427 RCV000724909 RCV001187136 RCV002516881 RCV003996760
NM_001035.3(RYR2):c.5821C>A (p.Arg1941Ser)	SNV Germline	Chr1:237617391	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA010038	rs_754811291	5 SubmittersRCV000182737 RCV001189921 RCV001193371 RCV002516883 RCV004804794
NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile)	SNV Germline	Chr1:237631518	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA010204	rs_794728821	3 SubmittersRCV000182874 RCV001253231 RCV005089919
NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile)	SNV Germline	Chr1:237638480	Pathogenic/Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA010384	rs_794728746	2 SubmittersRCV001781540 RCV002516910
NM_001035.3(RYR2):c.6940G>A (p.Glu2314Lys)	SNV Germline	Chr1:237639026	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA010419	rs_794728748	2 SubmittersRCV000182750 RCV005089915
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr)	SNV Germline	Chr1:237640940	Pathogenic/Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA010573	rs_794728753	5 SubmittersRCV000182757 RCV000217048 RCV002517795 RCV002362937
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)	SNV Germline	Chr1:237640941	Pathogenic/Likely pathogenic	Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA010582	rs_794728754	5 SubmittersRCV000182758 RCV001535748 RCV002272163 RCV002372117
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His)	SNV Germline	Chr1:237640983	Pathogenic/Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA010625	rs_794728756	6 SubmittersRCV000182760 RCV000208074 RCV000247473
NM_001035.3(RYR2):c.7202G>T (p.Arg2401Leu)	SNV Germline	Chr1:237640983	Pathogenic/Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA010635	rs_794728756	2 SubmittersRCV000182761 RCV002516885
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=)	SNV Germline	Chr1:237649906	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA010733	rs_371088367	8 SubmittersRCV000182635 RCV000252731 RCV000343987 RCV000777732 RCV001093830 RCV003884379 RCV003996733 RCV004537529
NM_001035.3(RYR2):c.8205C>A (p.Asp2735Glu)	SNV Germline	Chr1:237658019	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA010879	rs_794728823	5 SubmittersRCV000182878 RCV001175682 RCV002408798 RCV002516911 RCV004804798
NM_001035.3(RYR2):c.8262G>C (p.Gln2754His)	SNV Germline	Chr1:237660038	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA010917	rs_773748242	6 SubmittersRCV000182880 RCV001175683 RCV001337100 RCV002426879 RCV002515342 RCV003996798
NM_001035.3(RYR2):c.8378G>A (p.Arg2793Gln)	SNV Germline	Chr1:237660889	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA010968	rs_559773178	7 SubmittersRCV000182881 RCV001190681 RCV002433806 RCV002516912 RCV003996799 RCV004539706
NM_001035.3(RYR2):c.8408G>A (p.Arg2803Gln)	SNV Germline	Chr1:237660919	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA010985	rs_780643623	5 SubmittersRCV000182768 RCV001170262 RCV002515330 RCV003996767
NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val)	SNV Germline	Chr1:237698982	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA011117	rs_370141970	5 SubmittersRCV000182773 RCV000314238 RCV000393089 RCV001192120 RCV002517797 RCV003165392
NM_001035.3(RYR2):c.9518C>T (p.Thr3173Ile)	SNV Germline	Chr1:237705281	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA011222	rs_746161154	5 SubmittersRCV000182778 RCV000621590 RCV000778054 RCV002516890 RCV003996770
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)	SNV Germline	Chr1:237707023	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA011287	rs_371147744	11 SubmittersRCV000216905 RCV000590419 RCV000768781 RCV001099559 RCV001099558 RCV002372115 RCV003996735
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp)	SNV Germline	Chr1:237707188	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA011317	rs_751551400	3 SubmittersRCV000768783 RCV002515332
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr)	SNV Germline	Chr1:237718490	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA006660	rs_115622575	7 SubmittersRCV000182785 RCV001179064 RCV001727620 RCV002516891 RCV002390462 RCV003996773
NM_001035.3(RYR2):c.10529G>A (p.Arg3510His)	SNV Germline	Chr1:237718496	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA006684	rs_375947003	5 SubmittersRCV000182787 RCV001188653 RCV002516892 RCV003996775 RCV003298235
NM_001035.3(RYR2):c.11476+10A>C	SNV Germline	Chr1:237761038	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA007034	rs_794728702	3 SubmittersRCV000182643 RCV003150056 RCV002516862
NM_001035.3(RYR2):c.11588G>A (p.Gly3863Asp)	SNV Germline	Chr1:237772042	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA007088	rs_794728775	2 SubmittersRCV000182798 RCV002516895
NM_001035.3(RYR2):c.11812A>C (p.Ser3938Arg)	SNV Germline	Chr1:237778702	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA007163	rs_794728825	2 SubmittersRCV000182886 RCV002516914
NM_001035.3(RYR2):c.11814C>A (p.Ser3938Arg)	SNV Germline	Chr1:237778704	Pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA007170	rs_794728704	2 SubmittersRCV000182651 RCV002517785
NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser)	SNV Germline	Chr1:237778726	Pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA007186	rs_794728777	3 SubmittersRCV000182800 RCV002516896
NM_001035.3(RYR2):c.11965A>G (p.Asn3989Asp)	SNV Germline	Chr1:237783677	Pathogenic/Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA007278	rs_794728779	2 SubmittersRCV000182804 RCV002515334
NM_001035.3(RYR2):c.12239A>G (p.Tyr4080Cys)	SNV Germline	Chr1:237783951	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007383	rs_794728781	3 SubmittersRCV000182809 RCV003114334 RCV003996781
NM_001035.3(RYR2):c.12268C>T (p.Pro4090Ser)	SNV Germline	Chr1:237783980	Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA007392	rs_794728782	2 SubmittersRCV000182810 RCV002516898
NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val)	SNV Germline	Chr1:237783984	Pathogenic	Long QT syndrome Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA007418	rs_794728783	3 SubmittersRCV000190127 RCV002279938 RCV002515335
NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser)	SNV Germline	Chr1:237783995	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007426	rs_753850982	5 SubmittersRCV000182812 RCV002517799 RCV003165393 RCV003532034 RCV003996782
NM_001035.3(RYR2):c.12301C>T (p.Leu4101Phe)	SNV Germline	Chr1:237784013	Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA007454	rs_794728785	3 SubmittersRCV000182815 RCV001332695 RCV004984725
NM_001035.3(RYR2):c.12372C>A (p.Ser4124Arg)	SNV Germline	Chr1:237784084	Pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA007482	rs_771994461	2 SubmittersRCV000182816 RCV002517801
NM_001035.3(RYR2):c.12427A>C (p.Lys4143Gln)	SNV Germline	Chr1:237784139	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007522	rs_750908017	4 SubmittersRCV000182818 RCV001179066 RCV003638638 RCV003996784
NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln)	SNV Germline	Chr1:237784182	Pathogenic/Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA007532	rs_794728786	2 SubmittersRCV000182819 RCV002516899
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)	SNV Germline	Chr1:237784204	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007543	rs_377293019	7 SubmittersRCV000182645 RCV000620224 RCV000771837 RCV001099829 RCV001099830 RCV003996736
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser)	SNV Germline	Chr1:237784245	Pathogenic/Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA007573	rs_794728787	4 SubmittersRCV000182820 RCV001248790 RCV002415777
NM_001035.3(RYR2):c.12545A>C (p.Glu4182Ala)	SNV Germline	Chr1:237784257	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA007588	rs_794728788	3 SubmittersRCV000182822 RCV001798635 RCV002516900
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val)	SNV Germline	Chr1:237784320	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA007648	rs_794728792	4 SubmittersRCV002470800 RCV003137706
NM_001035.3(RYR2):c.12826G>A (p.Val4276Met)	SNV Germline	Chr1:237784538	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA007704	rs_368599791	4 SubmittersRCV000182646 RCV001189915 RCV002381595 RCV002516863
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=)	SNV Germline	Chr1:237784570	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA007721	rs_185482345	7 SubmittersRCV000182647 RCV000589602 RCV000778051 RCV001099836 RCV001099835 RCV004658979 RCV003996737
NM_001035.3(RYR2):c.12917T>C (p.Phe4306Ser)	SNV Germline	Chr1:237784629	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA007740	rs_776091285	4 SubmittersRCV000182648 RCV001180306 RCV002381596 RCV002516864
NM_001035.3(RYR2):c.13735C>T (p.His4579Tyr)	SNV Germline	Chr1:237792276	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA008032	rs_794728830	2 SubmittersRCV000182893 RCV004593998
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp)	SNV Germline	Chr1:237793906	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA008063	rs_794728799	5 SubmittersRCV000182840 RCV001197267 RCV002381599
NM_001035.3(RYR2):c.14278G>A (p.Val4760Ile)	SNV Germline	Chr1:237806263	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA008199	rs_794728831	2 SubmittersRCV000182894 RCV002516915
NM_001035.3(RYR2):c.14288A>G (p.Asn4763Ser)	SNV Germline	Chr1:237806273	Pathogenic/Likely pathogenic	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA008206	rs_794728803	4 SubmittersRCV000182844 RCV001798636 RCV002517804
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile)	SNV Germline	Chr1:237808913	Pathogenic	Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA008220	rs_794728804	4 SubmittersRCV000182845 RCV002390463 RCV002517805
NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg)	SNV Germline	Chr1:237832588	Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA008433	rs_794728810	2 SubmittersRCV000182852 RCV002515339
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)	SNV Germline	Chr1:237832619	Pathogenic/Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA008450	rs_794728811	12 SubmittersRCV000182854 RCV000445354 RCV002390465
NM_001035.3(RYR2):c.14884T>A (p.Tyr4962Asn)	SNV Germline	Chr1:237832627	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Criteria Provided Conflicting Classifications	CA008458	rs_748937501	7 SubmittersRCV000182855 RCV001177416 RCV002390466 RCV003153463 RCV003996789 RCV005361089
NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys)	SNV Germline	Chr1:237832628	Pathogenic/Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA008466	rs_794728832	3 SubmittersRCV000182895 RCV002517808 RCV005480332
NM_001035.3(RYR2):c.11197G>A (p.Asp3733Asn)	SNV Germline	Chr1:237756339	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA084805	rs_760307737	3 SubmittersRCV002515530 RCV003532051 RCV004020543
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln)	SNV Germline	Chr1:237614791	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Primary familial hypertrophic cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA351717	rs_869025511	5 SubmittersRCV000375573 RCV000208027 RCV002298528 RCV000320906 RCV002347815
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val)	SNV Germline	Chr1:237655873	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA351927	rs_869025513	5 SubmittersRCV000208294 RCV005243159 RCV002517404 RCV003997690
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)	SNV Germline	Chr1:237784549	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Criteria Provided Conflicting Classifications	CA085245	rs_750117613	5 SubmittersRCV000208489 RCV001194102 RCV002381717 RCV002515553 RCV002494544
NM_004415.4(DSP):c.2597G>A (p.Arg866His)	SNV Germline	Chr6:7575455	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA034081	rs_764965132	4 SubmittersRCV000208025 RCV001228122 RCV003437008 RCV002426975
NM_001232.4(CASQ2):c.940-1G>T	SNV Germline	Chr1:115702996	Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2	Criteria Provided Multiple Submitters No Conflicts	CA10576356	rs_876657635	4 SubmittersRCV000222785 RCV002503848 RCV002517522 RCV003343709
NM_001232.4(CASQ2):c.1134T>A (p.Asp378Glu)	SNV Germline	Chr1:115701307	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA1023611	rs_150486780	2 SubmittersRCV000219232 RCV002517467
NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser)	SNV Germline	Chr1:115705257	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Long QT syndrome	Criteria Provided Conflicting Classifications	CA1023708	rs_200643387	5 SubmittersRCV000213801 RCV001093808 RCV002517534 RCV002372226 RCV003318370
NM_001035.3(RYR2):c.5774T>C (p.Ile1925Thr)	SNV Germline	Chr1:237617344	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Condition: not provided Hypertrophic cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA074388	rs_761505396	8 SubmittersRCV000214458 RCV001190428 RCV001753649 RCV001293045 RCV003997752 RCV002354611 RCV002518197
NM_001035.3(RYR2):c.7287G>A (p.Leu2429=)	SNV Germline	Chr1:237643392	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA10576406	rs_876657578	4 SubmittersRCV000215902 RCV002517503 RCV003372655 RCV003997720
NM_001035.3(RYR2):c.9129-10T>A	SNV Germline	Chr1:237700219	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA10576408	rs_876657993	4 SubmittersRCV000219044 RCV003638644 RCV003997754
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=)	SNV Germline	Chr1:237680473	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA087786	rs_755520825	10 SubmittersRCV000219778 RCV000393090 RCV000777731 RCV001093833 RCV000845308 RCV003997723 RCV004530315 RCV002372220
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met)	SNV Germline	Chr1:237702052	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome RYR2-related disorder	Criteria Provided Conflicting Classifications	CA10576409	rs_876657994	9 SubmittersRCV000223326 RCV000771970 RCV003997755 RCV001249323 RCV001762465 RCV002444864 RCV002485398 RCV004739606
NM_001035.3(RYR2):c.9736A>G (p.Met3246Val)	SNV Germline	Chr1:237707104	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087949	rs_745839689	5 SubmittersRCV000219918 RCV001186886 RCV002372231 RCV002518200 RCV003997756
NM_001035.3(RYR2):c.11040-3C>T	SNV Germline	Chr1:237733702	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA10576411	rs_876657984	5 SubmittersRCV000222809 RCV001097952 RCV001097953 RCV001182284 RCV003997747
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=)	SNV Germline	Chr1:237786034	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA085335	rs_768161152	6 SubmittersRCV000213991 RCV000619737 RCV000769811 RCV002517497 RCV001312135
NM_001035.3(RYR2):c.13329-3T>C	SNV Germline	Chr1:237787985	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA085350	rs_542440592	4 SubmittersRCV000222428 RCV000771969 RCV003153492
NM_001035.3(RYR2):c.13329-11T>G	SNV Germline	Chr1:237787977	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085346	rs_778172821	6 SubmittersRCV000220720 RCV001187343 RCV002518192 RCV003997748
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=)	SNV Germline	Chr1:237792134	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA10576413	rs_548313130	9 SubmittersRCV000221328 RCV000263558 RCV001170491 RCV001706238 RCV002381735 RCV001093790 RCV003997716
NM_006073.4(TRDN):c.1472-12G>A	SNV Germline	Chr6:123316507	Conflicting classifications of pathogenicity	not specified Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA3983928	rs_375364108	3 SubmittersRCV000218470 RCV001722169 RCV002518216
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg)	SNV Germline	Chr6:123352541	Conflicting classifications of pathogenicity	not specified Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 5 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA3983985	rs_200243235	10 SubmittersRCV000214726 RCV000766958 RCV003327383 RCV000620191 RCV002518213
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val)	SNV Germline	Chr6:123377892	Conflicting classifications of pathogenicity	not specified Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 5	Criteria Provided Conflicting Classifications	CA3984078	rs_374355537	6 SubmittersRCV000223286 RCV001565966 RCV002518215 RCV002347847 RCV002500718
NM_001035.3(RYR2):c.10125A>G (p.Arg3375=)	SNV Germline	Chr1:237709081	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA084147	rs_764396074	6 SubmittersRCV000223696 RCV002338698 RCV001561191 RCV002516213 RCV003532062 RCV003998653
NM_001035.3(RYR2):c.13763T>C (p.Ile4588Thr)	SNV Germline	Chr1:237792304	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10581135	rs_876661386	3 SubmittersRCV000223875 RCV002516214 RCV002378958
NM_001232.4(CASQ2):c.1015-3C>T	SNV Germline	Chr1:115701429	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA1023634	rs_375320117	3 SubmittersRCV000429556 RCV002327123 RCV002518326
NM_001035.3(RYR2):c.6726G>A (p.Val2242=)	SNV Germline	Chr1:237634926	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA087187	rs_767246962	5 SubmittersRCV000231760 RCV002365180 RCV001185255 RCV001416062 RCV005208746
NM_006073.4(TRDN):c.2131C>T (p.Arg711Cys)	SNV Germline	Chr6:123218660	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 5	Criteria Provided Conflicting Classifications	CA3983590	rs_373408498	4 SubmittersRCV001658061 RCV002418016 RCV002519797 RCV005230154
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys)	SNV Germline	Chr6:123273009	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 5 not specified	Criteria Provided Conflicting Classifications	CA3983825	rs_9398723	5 SubmittersRCV002401893 RCV002516325 RCV003327386 RCV002500791 RCV005404424
NM_001035.3(RYR2):c.9688C>A (p.Gln3230Lys)	SNV Germline	Chr1:237707056	Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA10586347	rs_886037908	1 SubmittersRCV000240630
NM_001035.3(RYR2):c.13737C>A (p.His4579Gln)	SNV Germline	Chr1:237792278	Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA10586348	rs_886037907	1 SubmittersRCV000240650
NM_001035.3(RYR2):c.4489G>A (p.Gly1497Arg)	SNV Germline	Chr1:237595550	Conflicting classifications of pathogenicity	Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086627	rs_748678280	4 SubmittersRCV000244491 RCV001189409 RCV002518685 RCV003999018
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=)	SNV Germline	Chr1:237648544	Conflicting classifications of pathogenicity	Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087390	rs_759314800	5 SubmittersRCV000249314 RCV000769794 RCV002518696 RCV004804974
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=)	SNV Germline	Chr1:237708991	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 not specified Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy RYR2-related disorder Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA084095	rs_754976419	8 SubmittersRCV000253028 RCV001096093 RCV000427858 RCV001096092 RCV001179774 RCV004542953 RCV003995719
NM_001035.3(RYR2):c.10700G>A (p.Arg3567His)	SNV Germline	Chr1:237726283	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA084472	rs_577371071	5 SubmittersRCV000243114 RCV000519072 RCV001180374 RCV002518712 RCV003995711
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=)	SNV Germline	Chr1:237806205	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085611	rs_368971586	6 SubmittersRCV000253045 RCV001096511 RCV001096512 RCV001525672 RCV001705400 RCV003995733
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=)	SNV Germline	Chr1:237784339	Conflicting classifications of pathogenicity	Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085204	rs_3753631	5 SubmittersRCV000247128 RCV001182015 RCV001099831 RCV001099832 RCV003999002
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp)	SNV Germline	Chr1:237830585	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 RYR2-related disorder	Criteria Provided Conflicting Classifications	CA10587436	rs_886038888	3 SubmittersRCV000243171 RCV000449578 RCV003387518
NM_006073.4(TRDN):c.1282C>G (p.Arg428Gly)	SNV Germline	Chr6:123366174	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 5 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA3984018	rs_202219343	2 SubmittersRCV000252200 RCV002487155
NM_006073.4(TRDN):c.911C>T (p.Pro304Leu)	SNV Germline	Chr6:123464926	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA3984226	rs_750105528	2 SubmittersRCV000245220 RCV002518718
NM_001035.3(RYR2):c.4069G>A (p.Asp1357Asn)	SNV Germline	Chr1:237590901	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 9 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA086527	rs_193922626	5 SubmittersRCV000490834 RCV001177409 RCV004984772 RCV003995747 RCV005090303
NM_001035.3(RYR2):c.8831-9A>C	SNV Germline	Chr1:237678039	Conflicting classifications of pathogenicity	not specified 6 conditions Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA087746	rs_187977513	9 SubmittersRCV000338645 RCV000626732 RCV000771267 RCV000725128 RCV003995760 RCV002518860
NM_001035.3(RYR2):c.1527C>T (p.Ser509=)	SNV Germline	Chr1:237456650	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA10604409	rs_886042568	4 SubmittersRCV000372322 RCV000620340 RCV001183041 RCV005208749
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=)	SNV Germline	Chr1:237792206	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA085430	rs_375213838	7 SubmittersRCV000372481 RCV000388524 RCV001093792 RCV001181804 RCV003995768 RCV002379122
NM_001035.3(RYR2):c.9295G>C (p.Val3099Leu)	SNV Germline	Chr1:237700395	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087855	rs_745616771	7 SubmittersRCV000392155 RCV000781829 RCV001525717 RCV002374463 RCV002519159 RCV003995773
NM_001035.3(RYR2):c.41T>C (p.Leu14Pro)	SNV Germline	Chr1:237042562	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA10606020	rs_886043844	2 SubmittersRCV000296459 RCV003103988
NM_001232.4(CASQ2):c.846C>T (p.Tyr282=)	SNV Germline	Chr1:115705285	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA1023716	rs_764692110	2 SubmittersRCV000357608 RCV003638646
NM_001232.4(CASQ2):c.855G>C (p.Leu285=)	SNV Germline	Chr1:115705276	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 2 not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA1023714	rs_148562107	6 SubmittersRCV000302756 RCV005418062 RCV002411179 RCV002519374 RCV001705439
NM_001035.3(RYR2):c.1404G>A (p.Glu468=)	SNV Germline	Chr1:237454502	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA085551	rs_768538183	5 SubmittersRCV000328522 RCV001093800 RCV001188880 RCV003995808 RCV005480351
NM_001035.3(RYR2):c.1612+10A>G	SNV Germline	Chr1:237456745	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA10609549	rs_886046262	2 SubmittersRCV000282403 RCV000374594
NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=)	SNV Germline	Chr1:237550582	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086309	rs_747358776	4 SubmittersRCV000266767 RCV000321920 RCV002321973 RCV003995812
NM_001035.3(RYR2):c.3898A>C (p.Met1300Leu)	SNV Germline	Chr1:237590730	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA086494	rs_769384124	4 SubmittersRCV000347945 RCV000405952 RCV001178096 RCV005090428
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)	SNV Germline	Chr1:237590876	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA086525	rs_755391572	9 SubmittersRCV000308159 RCV000617753 RCV000777776 RCV000605932 RCV001093870 RCV001532584 RCV003995814 RCV004739669
NM_001035.3(RYR2):c.8493T>C (p.Val2831=)	SNV Germline	Chr1:237666568	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA087653	rs_755660659	6 SubmittersRCV000276193 RCV000333568 RCV001179330 RCV001431862 RCV002446541 RCV005418064
NM_001035.3(RYR2):c.8515-7A>G	SNV Germline	Chr1:237667876	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia not specified	Criteria Provided Conflicting Classifications	CA087670	rs_766622060	5 SubmittersRCV000327567 RCV000384491 RCV001187867 RCV003995819 RCV003330632
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg)	SNV Germline	Chr1:237707123	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA087952	rs_760379293	7 SubmittersRCV000336208 RCV000388355 RCV001178094 RCV003995821 RCV003362750 RCV003226918 RCV005407032
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=)	SNV Germline	Chr1:237708883	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA087982	rs_184937795	6 SubmittersRCV000347849 RCV000404124 RCV001180286 RCV003330633 RCV004804984 RCV002379162
NM_001035.3(RYR2):c.10008G>A (p.Glu3336=)	SNV Germline	Chr1:237708964	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA084084	rs_753175584	5 SubmittersRCV000264362 RCV001093890 RCV001805006 RCV003995823 RCV005268587
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)	SNV Germline	Chr1:237732072	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 not specified Cardiomyopathy Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA084638	rs_547005691	7 SubmittersRCV000298794 RCV001093733 RCV001582919 RCV001188871 RCV001764262 RCV002450844 RCV003995825
NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu)	SNV Germline	Chr1:237783795	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA085122	rs_779666612	4 SubmittersRCV000316066 RCV002522123 RCV002348036 RCV000375356 RCV001509128
NM_001035.3(RYR2):c.-63G>T	SNV Germline	Chr1:237042459	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA10609770	rs_578020342	2 SubmittersRCV000264698 RCV001668650 RCV000375824
NM_001035.3(RYR2):c.849-10T>C	SNV Germline	Chr1:237423082	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA087648	rs_771173251	3 SubmittersRCV000291767 RCV001093908 RCV001525478
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser)	SNV Germline	Chr1:237566752	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA10609773	rs_886046265	6 SubmittersRCV000336721 RCV000372653 RCV001178100 RCV002450843 RCV002504044 RCV004804983
NM_001035.3(RYR2):c.9067+10C>T	SNV Germline	Chr1:237687514	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided not specified Cardiomyopathy	Criteria Provided Conflicting Classifications	CA087820	rs_372631657	8 SubmittersRCV000282361 RCV000335017 RCV001528938 RCV001175583 RCV001798778
NM_001035.3(RYR2):c.11039+7T>C	SNV Germline	Chr1:237732156	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA084671	rs_569571855	2 SubmittersRCV000277793 RCV000370045 RCV002520479
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=)	SNV Germline	Chr1:237773639	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085044	rs_774625105	10 SubmittersRCV000337602 RCV000621893 RCV001000975 RCV001093897 RCV001179551 RCV001553008 RCV003995828
NM_001035.3(RYR2):c.13957-5C>G	SNV Germline	Chr1:237798032	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA085537	rs_189772599	6 SubmittersRCV000297957 RCV000391467 RCV005404485 RCV002520480 RCV002392830
NM_001035.3(RYR2):c.14808+12A>C	SNV Germline	Chr1:237831577	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA10609817	rs_886046281	2 SubmittersRCV000280510 RCV000349479
NM_001035.3(RYR2):c.577-14G>A	SNV Germline	Chr1:237387267	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Condition: not provided	Criteria Provided Conflicting Classifications	CA086965	rs_148019277	7 SubmittersRCV000312964 RCV000351465 RCV000439987 RCV001178366 RCV003995803 RCV001699290
NM_001035.3(RYR2):c.828A>G (p.Arg276=)	SNV Germline	Chr1:237417103	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 not specified Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA087597	rs_180711819	9 SubmittersRCV000361184 RCV000432303 RCV000621348 RCV000768757 RCV001093847 RCV001718598 RCV003995805 RCV004543169
NM_001035.3(RYR2):c.2772G>A (p.Leu924=)	SNV Germline	Chr1:237511741	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy RYR2-related disorder Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086195	rs_780664060	11 SubmittersRCV000310234 RCV000617646 RCV000418654 RCV001093810 RCV001191830 RCV004739668 RCV001723881 RCV003995811
NM_001035.3(RYR2):c.5220T>G (p.Pro1740=)	SNV Germline	Chr1:237614348	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA10610619	rs_886046269	2 SubmittersRCV000282078 RCV000376490
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met)	SNV Germline	Chr1:237706969	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA087934	rs_762549821	6 SubmittersRCV000324884 RCV000377072 RCV001192119 RCV001195553 RCV002379161
NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met)	SNV Germline	Chr1:237708951	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087992	rs_774437805	5 SubmittersRCV000361343 RCV001093889 RCV001187921 RCV002379163 RCV003995822
NM_001035.3(RYR2):c.13482T>C (p.Tyr4494=)	SNV Germline	Chr1:237791434	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA10610628	rs_886046279	3 SubmittersRCV000298647 RCV002379164 RCV000353478
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His)	SNV Germline	Chr1:237792259	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085440	rs_371157286	8 SubmittersRCV000344574 RCV001093841 RCV001177067 RCV001590913 RCV002502178 RCV002379165 RCV003995832
NM_001035.3(RYR2):c.*711C>G	SNV Germline	Chr1:237833358	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10610667	rs_544493822	2 SubmittersRCV000284444 RCV000376366 RCV002510838
NM_001035.3(RYR2):c.*1108A>G	SNV Germline	Chr1:237833755	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA10610682	rs_540171235	1 SubmittersRCV000345410 RCV000399388
NM_001035.3(RYR2):c.837G>A (p.Thr279=)	SNV Germline	Chr1:237417112	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia not specified	Criteria Provided Conflicting Classifications	CA087614	rs_769682840	5 SubmittersRCV000326370 RCV000383327 RCV001178101 RCV003995806 RCV005404483
NM_001035.3(RYR2):c.1006-12C>T	SNV Germline	Chr1:237441307	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Condition: not provided not specified Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA084121	rs_367998175	9 SubmittersRCV000280870 RCV000338236 RCV000777686 RCV001651346 RCV001699344 RCV003995807
NM_001035.3(RYR2):c.1444C>T (p.Leu482=)	SNV Germline	Chr1:237454542	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA085665	rs_117903753	2 SubmittersRCV000274601 RCV000366756
NM_001035.3(RYR2):c.5763G>A (p.Arg1921=)	SNV Germline	Chr1:237617333	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10610719	rs_886046270	5 SubmittersRCV000281373 RCV001093771 RCV001711777 RCV005402902 RCV002356406
NM_001035.3(RYR2):c.7599T>C (p.Pro2533=)	SNV Germline	Chr1:237649963	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10610728	rs_886046274	5 SubmittersRCV000285379 RCV000342737 RCV001525493 RCV003995818 RCV002392828
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=)	SNV Germline	Chr1:237702045	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087892	rs_774657844	6 SubmittersRCV000307391 RCV000424468 RCV001093727 RCV001180601 RCV002446542 RCV003995820
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln)	SNV Germline	Chr1:237718484	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA084368	rs_748805290	9 SubmittersRCV000305852 RCV000391540 RCV001183237 RCV001256775 RCV002392829 RCV003995824
NM_001035.3(RYR2):c.11146-6G>A	SNV Germline	Chr1:237756282	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA10610736	rs_886046277	4 SubmittersRCV000272050 RCV000329474 RCV001178092 RCV003995827
NM_001035.3(RYR2):c.11557+14C>T	SNV Germline	Chr1:237770901	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Arrhythmogenic right ventricular dysplasia 2 not specified	Criteria Provided Conflicting Classifications	CA065703	rs_374155447	5 SubmittersRCV000321372 RCV005230232 RCV000380613 RCV000419639
NM_001035.3(RYR2):c.11557+15G>A	SNV Germline	Chr1:237770902	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 not specified	Criteria Provided Conflicting Classifications	CA084994	rs_761490797	3 SubmittersRCV000286175 RCV000336517 RCV001255471
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=)	SNV Germline	Chr1:237783739	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 not specified Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA085112	rs_763374929	9 SubmittersRCV000264286 RCV000433519 RCV001093737 RCV000727442 RCV001178371 RCV002348035 RCV003995829 RCV004537660
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=)	SNV Germline	Chr1:237784027	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia not specified	Criteria Provided Conflicting Classifications	CA066382	rs_184625125	6 SubmittersRCV000296211 RCV000398770 RCV001180285 RCV002365341 RCV003995830 RCV003330634
NM_001035.3(RYR2):c.12333C>T (p.Asn4111=)	SNV Germline	Chr1:237784045	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia Arrhythmogenic right ventricular cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA085170	rs_748716535	6 SubmittersRCV000351004 RCV000407743 RCV001256000 RCV003532081 RCV005480352
NM_001035.3(RYR2):c.*509A>G	SNV Germline	Chr1:237833156	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10610761	rs_565288028	2 SubmittersRCV000289309 RCV000381395 RCV003417954
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala)	SNV Germline	Chr6:123503785	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 5 Catecholaminergic polymorphic ventricular tachycardia 5 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3984303	rs_376208769	5 SubmittersRCV002467765 RCV002487556 RCV002379245 RCV002524465 RCV003105882
NM_006073.4(TRDN):c.932-6C>A	SNV Germline	Chr6:123439009	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA10625829	rs_886061033	2 SubmittersRCV000400104 RCV005090579
NM_001035.3(RYR2):c.463+9C>T	SNV Germline	Chr1:237374804	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA086671	rs_559545973	5 SubmittersRCV000436307 RCV002521672 RCV001798809
NM_001035.3(RYR2):c.3361G>C (p.Gly1121Arg)	SNV Germline	Chr1:237566713	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086357	rs_199682282	6 SubmittersRCV000431787 RCV001182765 RCV002323667 RCV003103760 RCV004000595
NM_001035.3(RYR2):c.8696A>G (p.Asn2899Ser)	SNV Germline	Chr1:237674201	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA16603571	rs_1057524444	4 SubmittersRCV000440473 RCV001184552 RCV004000574 RCV003638665
NM_001035.3(RYR2):c.10551C>A (p.Gly3517=)	SNV Germline	Chr1:237718518	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA084382	rs_768797598	3 SubmittersRCV000420297 RCV001101641 RCV001101642
NM_001035.3(RYR2):c.11402+6G>A	SNV Germline	Chr1:237759858	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA084942	rs_374183234	4 SubmittersRCV000420399 RCV001191559 RCV003638650 RCV003995982
NM_001035.3(RYR2):c.14136C>A (p.Val4712=)	SNV Germline	Chr1:237801901	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA16603581	rs_756435572	5 SubmittersRCV000440478 RCV002393015 RCV001184553 RCV002525425 RCV004000462
NM_001035.3(RYR2):c.2203+4C>T	SNV Germline	Chr1:237496756	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085979	rs_371445192	5 SubmittersRCV001179846 RCV001703697 RCV002519541 RCV004984876 RCV004000365
NM_001035.3(RYR2):c.3423+6T>G	SNV Germline	Chr1:237566781	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA16603607	rs_1057521957	3 SubmittersRCV000768759 RCV002521685 RCV001720212
NM_001035.3(RYR2):c.10257C>T (p.Phe3419=)	SNV Germline	Chr1:237711771	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA084261	rs_748715725	5 SubmittersRCV000420098 RCV001191142 RCV002522353 RCV003168673 RCV004000465
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=)	SNV Germline	Chr1:237589923	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA086436	rs_536080941	7 SubmittersRCV000419994 RCV001178358 RCV001100936 RCV001100935 RCV004567904 RCV003995980 RCV002348152
NM_001035.3(RYR2):c.6504C>G (p.His2168Gln)	SNV Germline	Chr1:237631490	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA16603634	rs_760237464	2 SubmittersRCV000430239 RCV002519524
NM_001035.3(RYR2):c.2808G>A (p.Ser936=)	SNV Germline	Chr1:237511777	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA16603638	rs_1057521205	6 SubmittersRCV000417432 RCV001098741 RCV001098740 RCV001187663 RCV004984872 RCV004000350
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=)	SNV Germline	Chr1:237640939	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087311	rs_376057173	7 SubmittersRCV000428607 RCV001097471 RCV001097470 RCV002365524 RCV001183033 RCV004000429
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=)	SNV Germline	Chr1:237700418	Conflicting classifications of pathogenicity	not specified Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA087858	rs_2797436	10 SubmittersRCV000427003 RCV001101440 RCV002374639 RCV001101439 RCV001179773 RCV001712361 RCV003996011 RCV004530556
NM_001035.3(RYR2):c.14756+3G>A	SNV Germline	Chr1:237830633	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16603660	rs_1057523295	4 SubmittersRCV000428148 RCV001524786 RCV005055986 RCV003372711
NM_001232.4(CASQ2):c.235-2A>G	SNV Germline	Chr1:115744914	Likely pathogenic	Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA16609862	rs_1060502164	4 SubmittersRCV000618299 RCV001546335 RCV003338598 RCV003103779
NM_001035.3(RYR2):c.1022G>C (p.Gly341Ala)	SNV Germline	Chr1:237441335	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA063289	rs_565413020	6 SubmittersRCV001000598 RCV001184003 RCV002446853 RCV002525633 RCV004002014
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)	SNV Germline	Chr1:237614422	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 RYR2-related disorder not specified	Criteria Provided Conflicting Classifications	CA086866	rs_564806219	13 SubmittersRCV000756606 RCV001099048 RCV000620181 RCV000769785 RCV000852597 RCV001099049 RCV004539926 RCV005056009
NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala)	SNV Germline	Chr1:237627986	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA087095	rs_780707255	4 SubmittersRCV001170256 RCV002365589 RCV002522784
NM_001035.3(RYR2):c.230C>T (p.Ala77Val)	SNV Germline	Chr1:237330939	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA16610004	rs_1060500142	3 SubmittersRCV001553236 RCV002446768 RCV002522771
NM_001035.3(RYR2):c.8416C>T (p.Arg2806Cys)	SNV Germline	Chr1:237660927	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA16610006	rs_727504134	3 SubmittersRCV002411425 RCV002526384 RCV002480340
NM_001035.3(RYR2):c.865A>G (p.Ile289Val)	SNV Germline	Chr1:237423108	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA087700	rs_767673456	4 SubmittersRCV001525014 RCV002522769 RCV004000613 RCV004659034
NM_001035.3(RYR2):c.9561G>C (p.Lys3187Asn)	SNV Germline	Chr1:237705324	Conflicting classifications of pathogenicity	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA16610010	rs_1060500168	5 SubmittersRCV002480341 RCV003532125 RCV004000630 RCV002379411 RCV002523282
NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys)	SNV Germline	Chr1:237638450	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA16610013	rs_1060500156	1 SubmittersRCV002526389
NM_001035.3(RYR2):c.7374G>A (p.Ala2458=)	SNV Germline	Chr1:237648475	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087381	rs_780891381	4 SubmittersRCV001181427 RCV002526392 RCV002379412 RCV004000632
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=)	SNV Germline	Chr1:237708919	Conflicting classifications of pathogenicity	Condition: not provided Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Cardiomyopathy not specified Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087988	rs_199730192	10 SubmittersRCV000589442 RCV001101534 RCV001101535 RCV002383853 RCV001178578 RCV001700119 RCV004002015
NM_001035.3(RYR2):c.8798T>G (p.Val2933Gly)	SNV Germline	Chr1:237674814	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype not specified Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087727	rs_550691734	6 SubmittersRCV000520735 RCV001186329 RCV003103767 RCV002374739 RCV005431675 RCV004000619
NM_001035.3(RYR2):c.615C>T (p.Ala205=)	SNV Germline	Chr1:237387319	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA087057	rs_112680790	11 SubmittersRCV000768753 RCV000593649 RCV003330699 RCV002526467 RCV002356712 RCV004002012 RCV004539961
NM_001035.3(RYR2):c.12463T>A (p.Ser4155Thr)	SNV Germline	Chr1:237784175	Conflicting classifications of pathogenicity	not specified Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16610026	rs_1060500135	4 SubmittersRCV002282148 RCV002488998 RCV003153575 RCV005480368
NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu)	SNV Germline	Chr1:237617394	Conflicting classifications of pathogenicity	Cardiomyopathy Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 not specified	Criteria Provided Conflicting Classifications	CA086981	rs_368669045	7 SubmittersRCV001185258 RCV002506090 RCV004000624 RCV004691233 RCV002356633 RCV003103770 RCV005239016
NM_001035.3(RYR2):c.9772C>T (p.Pro3258Ser)	SNV Germline	Chr1:237707140	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA087955	rs_368028300	2 SubmittersRCV001181374 RCV003103769
NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys)	SNV Germline	Chr1:237756342	Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA16610052	rs_1060500150	2 SubmittersRCV001575619 RCV002522780
NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile)	SNV Germline	Chr1:237772077	Pathogenic/Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA16610054	rs_1060500137	2 SubmittersRCV003103762 RCV005404571
NM_001035.3(RYR2):c.13904T>A (p.Ile4635Asn)	SNV Germline	Chr1:237793988	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA16610067	rs_1060500169	3 SubmittersRCV000786205 RCV002523283 RCV005010335
NM_001035.3(RYR2):c.3398G>A (p.Arg1133His)	SNV Germline	Chr1:237566750	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA071505	rs_374397612	4 SubmittersRCV001188146 RCV003372715 RCV002269270 RCV002522775
NM_001035.3(RYR2):c.4899T>C (p.Pro1633=)	SNV Germline	Chr1:237610977	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16610071	rs_1060503853	5 SubmittersRCV001097294 RCV001188149 RCV001097295 RCV004002020 RCV002341060
NM_001035.3(RYR2):c.7354G>A (p.Val2452Met)	SNV Germline	Chr1:237648455	Conflicting classifications of pathogenicity	Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087378	rs_377136047	5 SubmittersRCV000620494 RCV001184262 RCV002522785 RCV002488999 RCV004000622
NM_001035.3(RYR2):c.12215C>T (p.Thr4072Met)	SNV Germline	Chr1:237783927	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA16610095	rs_928224285	4 SubmittersRCV000489632 RCV000772023 RCV002523284 RCV004000633
NM_006073.4(TRDN):c.2143A>G (p.Ser715Gly)	SNV Germline	Chr6:123218648	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 5	Criteria Provided Conflicting Classifications	CA3983584	rs_768748530	3 SubmittersRCV002525570 RCV002429506 RCV005230397
NM_006073.4(TRDN):c.1713A>C (p.Glu571Asp)	SNV Germline	Chr6:123271146	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 5 not specified	Criteria Provided Conflicting Classifications	CA3983801	rs_201115952	7 SubmittersRCV000620981 RCV001508199 RCV002525666 RCV003225729 RCV005239046
NM_006073.4(TRDN):c.419A>G (p.Lys140Arg)	SNV Germline	Chr6:123547345	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 5 Catecholaminergic polymorphic ventricular tachycardia 1 not specified	Criteria Provided Conflicting Classifications	CA3984390	rs_200953683	5 SubmittersRCV002526415 RCV002329046 RCV002506124 RCV005056024
NM_006073.4(TRDN):c.277C>T (p.Arg93Cys)	SNV Germline	Chr6:123548568	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA3984423	rs_370788759	3 SubmittersRCV000619360 RCV002473022 RCV002526482
NM_006073.4(TRDN):c.167T>C (p.Leu56Pro)	SNV Germline	Chr6:123570988	Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 5	Criteria Provided Single Submitter	CA16612018	rs_1060502116	3 SubmittersRCV000786235 RCV003103778 RCV001580171
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)	SNV Germline	Chr1:237610825	Conflicting classifications of pathogenicity	not specified Wolff-Parkinson-White pattern Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086724	rs_200070226	9 SubmittersRCV000482205 RCV000656153 RCV001171196 RCV002526557 RCV000766723 RCV002341136 RCV004003317
NM_001035.3(RYR2):c.11989A>G (p.Lys3997Glu)	SNV Germline	Chr1:237783701	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA16617108	rs_1064794210	2 SubmittersRCV000484014 RCV003525913
NM_006073.4(TRDN):c.884C>T (p.Pro295Leu)	SNV Germline	Chr6:123464953	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 5 Catecholaminergic polymorphic ventricular tachycardia 1 not specified	Criteria Provided Conflicting Classifications	CA3984230	rs_201899630	7 SubmittersRCV000486067 RCV000619195 RCV003224297 RCV002526669 RCV004800423
NM_001232.4(CASQ2):c.234+2T>C	SNV Germline	Chr1:115768306	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1023982	rs_757789935	3 SubmittersRCV000489910 RCV003766751 RCV002446956
NM_001035.3(RYR2):c.11914A>G (p.Met3972Val)	SNV Germline	Chr1:237781598	Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA345410102	rs_1085307997	2 SubmittersRCV000490203 RCV002523420
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val)	SNV Germline	Chr1:237819171	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA345426727	rs_1085307524	3 SubmittersRCV000489541 RCV002470876
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys)	SNV Germline	Chr6:123255878	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 5 Cardiovascular phenotype Condition: not provided not specified Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA3983705	rs_181571822	5 SubmittersRCV001286021 RCV000620324 RCV000766609 RCV000489524 RCV002526020
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter)	SNV Germline	Chr1:115725508	Pathogenic/Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2	Criteria Provided Multiple Submitters No Conflicts	CA1023758	rs_776874142	4 SubmittersRCV005004189 RCV002527048 RCV000497882
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys)	SNV Germline	Chr1:115768378	Pathogenic/Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA341767114	rs_1436844070	4 SubmittersRCV002526063 RCV000497364 RCV000618128
NM_001035.3(RYR2):c.1392C>A (p.His464Gln)	SNV Germline	Chr1:237454490	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA085521	rs_749032742	9 SubmittersRCV000498149 RCV000522514 RCV000769774 RCV002526064 RCV004003435 RCV002489201 RCV004023275 RCV005404617
NM_001035.3(RYR2):c.6158A>G (p.Lys2053Arg)	SNV Germline	Chr1:237625796	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy	Criteria Provided Conflicting Classifications	CA087055	rs_771590345	6 SubmittersRCV000506199 RCV002527369 RCV002358392 RCV004003560 RCV005401473
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr)	SNV Germline	Chr1:115768540	Pathogenic/Likely pathogenic	Condition: not provided Wolff-Parkinson-White pattern Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA341767476	rs_1553197939	3 SubmittersRCV000523914 RCV001796094 RCV003638676
NM_001035.3(RYR2):c.950T>C (p.Met317Thr)	SNV Germline	Chr1:237423193	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087910	rs_367601258	8 SubmittersRCV000522925 RCV000620365 RCV001188885 RCV002525200 RCV002481717 RCV003993997
NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu)	SNV Germline	Chr1:237445447	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085140	rs_759830423	6 SubmittersRCV000521452 RCV001190504 RCV002481695 RCV002525113 RCV004984938 RCV004003599
NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn)	SNV Germline	Chr1:237655915	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia not specified	Criteria Provided Conflicting Classifications	CA087562	rs_202020477	7 SubmittersRCV000520895 RCV001188646 RCV002413416 RCV002527633 RCV004003630 RCV004689776
NM_001035.3(RYR2):c.11116G>A (p.Asp3706Asn)	SNV Germline	Chr1:237742320	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA39821251	rs_942040362	5 SubmittersRCV000523159 RCV001183827 RCV002525153 RCV004984941 RCV004003608
NM_001035.3(RYR2):c.12944G>A (p.Gly4315Glu)	SNV Germline	Chr1:237784656	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia not specified	Criteria Provided Conflicting Classifications	CA085277	rs_766109950	6 SubmittersRCV000522106 RCV001187624 RCV002384014 RCV002525212 RCV004003629 RCV005434990
NM_001035.3(RYR2):c.13237C>A (p.Pro4413Thr)	SNV Germline	Chr1:237784949	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085315	rs_773441342	6 SubmittersRCV000520156 RCV001293463 RCV001180380 RCV002384009 RCV002527613 RCV004003613
NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu)	SNV Germline	Chr1:237832607	Pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA345410956	rs_1553343100	2 SubmittersRCV000522921 RCV000853603
NM_006073.4(TRDN):c.239C>T (p.Ser80Phe)	SNV Germline	Chr6:123548606	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 5 TRDN-related disorder	Criteria Provided Conflicting Classifications	CA3984427	rs_181287533	5 SubmittersRCV000519947 RCV000621197 RCV002525128 RCV003224305 RCV003925557
NM_001232.4(CASQ2):c.225C>T (p.Ile75=)	SNV Germline	Chr1:115768317	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA419896025	rs_1373884863	2 SubmittersRCV001102444 RCV002526098
NM_001035.3(RYR2):c.44G>C (p.Arg15Pro)	SNV Germline	Chr1:237042565	Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA345654226	rs_865784613	1 SubmittersRCV002527816
NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn)	SNV Germline	Chr1:237445428	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA345377490	rs_1553454821	1 SubmittersRCV002527785
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=)	SNV Germline	Chr1:237548434	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086238	rs_575899061	6 SubmittersRCV001098742 RCV001098743 RCV001182242 RCV002438350 RCV003419948 RCV003999104
NM_001035.3(RYR2):c.9129-7T>C	SNV Germline	Chr1:237700222	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA658656996	rs_1466669135	3 SubmittersRCV001101437 RCV001101438 RCV003999133
NM_001035.3(RYR2):c.12076T>G (p.Leu4026Val)	SNV Germline	Chr1:237783788	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085118	rs_765141566	4 SubmittersRCV001185994 RCV002350253 RCV002527787 RCV003999090
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln)	SNV Germline	Chr1:237793907	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA345418069	rs_1553328170	4 SubmittersRCV001755831 RCV001248799
NM_001035.3(RYR2):c.5756G>A (p.Arg1919Gln)	SNV Germline	Chr1:237617326	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 not specified	Criteria Provided Conflicting Classifications	CA086956	rs_199893812	5 SubmittersRCV000541396 RCV001177351 RCV002350256 RCV002528371 RCV005400729
NM_001035.3(RYR2):c.7624G>A (p.Ala2542Thr)	SNV Germline	Chr1:237649988	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087436	rs_373602064	3 SubmittersRCV003532167 RCV003153701 RCV003999129
NM_001035.3(RYR2):c.8896-9T>C	SNV Germline	Chr1:237680447	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087782	rs_773401697	4 SubmittersRCV000777853 RCV002528381 RCV003999132
NM_001035.3(RYR2):c.10686A>G (p.Glu3562=)	SNV Germline	Chr1:237723259	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA423820473	rs_1553300632	2 SubmittersRCV002527780 RCV003999086
NM_001035.3(RYR2):c.567A>T (p.Glu189Asp)	SNV Germline	Chr1:237377426	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA345375725	rs_1415931588	1 SubmittersRCV003638678
NM_001035.3(RYR2):c.677-7C>G	SNV Germline	Chr1:237388080	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA075191	rs_747407654	2 SubmittersRCV002526073 RCV003532166
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)	SNV Germline	Chr1:237423135	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087787	rs_551099887	11 SubmittersRCV000596554 RCV000769770 RCV001194071 RCV002377061 RCV002526091 RCV004802146
NM_001035.3(RYR2):c.14808+3A>G	SNV Germline	Chr1:237831568	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA085774	rs_377491955	6 SubmittersRCV001177343 RCV001550055 RCV002527803 RCV002395358 RCV004525965
NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg)	SNV Germline	Chr1:237639095	Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA345395895	rs_1553263875	1 SubmittersRCV002526075
NM_001035.3(RYR2):c.11G>C (p.Gly4Ala)	SNV Germline	Chr1:237042532	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy	Criteria Provided Conflicting Classifications	CA345654160	rs_866878858	3 SubmittersRCV002528357 RCV003999089 RCV005401486
NM_001035.3(RYR2):c.7060G>A (p.Ala2354Thr)	SNV Germline	Chr1:237639146	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA087269	rs_773070579	5 SubmittersRCV001525946 RCV002528375 RCV003999123 RCV004023916 RCV004812325
NM_001035.3(RYR2):c.7550A>G (p.Asn2517Ser)	SNV Germline	Chr1:237649914	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA345399058	rs_1314129285	5 SubmittersRCV003999127 RCV003302817 RCV002526084 RCV005231040
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=)	SNV Germline	Chr1:237784252	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085195	rs_772125105	7 SubmittersRCV000845473 RCV001189675 RCV001193936 RCV002420413 RCV002528359 RCV003999092
NM_001035.3(RYR2):c.13195A>G (p.Asn4399Asp)	SNV Germline	Chr1:237784907	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085305	rs_764884250	3 SubmittersRCV002384109 RCV002527793 RCV004802144
NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu)	SNV Germline	Chr1:237806236	Pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA345423159	rs_794728802	2 SubmittersRCV000786201 RCV002527801
NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys)	SNV Germline	Chr1:237819192	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA345426888	rs_1553339086	1 SubmittersRCV002528364
NM_006073.4(TRDN):c.1811C>T (p.Thr604Ile)	SNV Germline	Chr6:123260632	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA3983728	rs_763939252	3 SubmittersRCV001545766 RCV003103805 RCV002413506
NM_006073.4(TRDN):c.232+2T>A	SNV Germline	Chr6:123570921	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA365569008	rs_1554258777	1 SubmittersRCV002526109
NM_006073.4(TRDN):c.176C>T (p.Thr59Met)	SNV Germline	Chr6:123570979	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 5	Criteria Provided Conflicting Classifications	CA3984454	rs_397515459	4 SubmittersRCV002526104 RCV002413505 RCV004546515
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter)	SNV Germline	Chr1:115768427	Pathogenic/Likely pathogenic	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA341767232	rs_756636650	3 SubmittersRCV000579287 RCV003338669 RCV002529041
NM_001035.3(RYR2):c.9293C>T (p.Thr3098Ile)	SNV Germline	Chr1:237700393	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA345406100	rs_1227241969	5 SubmittersRCV000590261 RCV002530920 RCV001185002 RCV004024680 RCV004002428
NM_001035.3(RYR2):c.5279G>A (p.Arg1760Gln)	SNV Germline	Chr1:237614407	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086864	rs_765106198	3 SubmittersRCV000587484 RCV002530914 RCV004002424
NM_001035.3(RYR2):c.4752G>A (p.Pro1584=)	SNV Germline	Chr1:237610830	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086728	rs_780111656	5 SubmittersRCV000591934 RCV001189488 RCV003638682 RCV002341516 RCV004002455
NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg)	SNV Germline	Chr1:237784253	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Arrhythmogenic right ventricular dysplasia 2	Criteria Provided Conflicting Classifications	CA085196	rs_775477470	9 SubmittersRCV000592307 RCV001189668 RCV002532446 RCV004002458 RCV005431790 RCV002420573 RCV002476301
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=)	SNV Germline	Chr1:237674752	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA087718	rs_762521873	5 SubmittersRCV000600823 RCV000768777 RCV002377242 RCV003153757
NM_001035.3(RYR2):c.774-14G>T	SNV Germline	Chr1:237417035	Conflicting classifications of pathogenicity	not specified Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087479	rs_370114411	6 SubmittersRCV000612273 RCV000828505 RCV002531122 RCV001189433 RCV004002476
NM_001035.3(RYR2):c.3896T>C (p.Ile1299Thr)	SNV Germline	Chr1:237590728	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA086492	rs_772551383	6 SubmittersRCV000612033 RCV002368034 RCV002529365 RCV005401512
NM_001035.3(RYR2):c.1476+3C>T	SNV Germline	Chr1:237454577	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA529912661	rs_1387762631	4 SubmittersRCV001712617 RCV001186307 RCV002395553 RCV002531163
NM_001035.3(RYR2):c.4910+6C>T	SNV Germline	Chr1:237610994	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA658795632	rs_1553521040	2 SubmittersRCV000612217 RCV002531556
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn)	SNV Germline	Chr1:237614742	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA086920	rs_761770946	6 SubmittersRCV001101129 RCV000613748 RCV001101128 RCV001176522 RCV002275071 RCV002350472
NM_001035.3(RYR2):c.6606C>T (p.Tyr2202=)	SNV Germline	Chr1:237633628	Conflicting classifications of pathogenicity	not specified Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA423818260	rs_1270857666	3 SubmittersRCV000612746 RCV002528734 RCV005268674
NM_001035.3(RYR2):c.10838+4G>A	SNV Germline	Chr1:237727203	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA084554	rs_776923037	6 SubmittersRCV001525236 RCV002431773 RCV001697458 RCV002531504 RCV004002509
NM_006073.4(TRDN):c.1951+6C>A	SNV Germline	Chr6:123255075	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA3983694	rs_781510666	2 SubmittersRCV001722587 RCV002529416
NM_006073.4(TRDN):c.1220-3C>T	SNV Germline	Chr6:123377745	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA3984055	rs_773907258	3 SubmittersRCV000602762 RCV002358694 RCV002529592
NM_006073.4(TRDN):c.1568-4T>A	SNV Germline	Chr6:123274674	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA3983859	rs_764779610	3 SubmittersRCV000619973 RCV001707778 RCV002531535
NM_001232.4(CASQ2):c.939+1G>T	SNV Germline	Chr1:115705191	Pathogenic/Likely pathogenic	Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Multiple Submitters No Conflicts	CA29614531	rs_905985075	7 SubmittersRCV000620389 RCV001546390 RCV002506505 RCV002470933 RCV002531779 RCV004788035
NM_001232.4(CASQ2):c.898G>A (p.Asp300Asn)	SNV Germline	Chr1:115705233	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 2	Criteria Provided Conflicting Classifications	CA1023700	rs_376147306	6 SubmittersRCV000619631 RCV002531749 RCV003328607 RCV001098682
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser)	SNV Germline	Chr1:115705238	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA1023702	rs_548536938	5 SubmittersRCV000618889 RCV001591383 RCV002499002 RCV003343953 RCV002531789
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)	SNV Germline	Chr1:237441382	Pathogenic	Cardiovascular phenotype Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA345376136	rs_1401116572	9 SubmittersRCV000620678 RCV003532205 RCV001529699 RCV002470934
NM_001035.3(RYR2):c.4444C>T (p.Arg1482Cys)	SNV Germline	Chr1:237595505	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086623	rs_564869863	4 SubmittersRCV000619441 RCV002531791 RCV001187320 RCV004002695
NM_001035.3(RYR2):c.5570C>T (p.Pro1857Leu)	SNV Germline	Chr1:237614698	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086908	rs_568198475	6 SubmittersRCV001187319 RCV001770549 RCV000619341 RCV002531807 RCV004002709
NM_001035.3(RYR2):c.5933A>G (p.Asn1978Ser)	SNV Germline	Chr1:237623781	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087007	rs_773006920	5 SubmittersRCV001180585 RCV000620399 RCV002531803 RCV001775924 RCV004002707
NM_001035.3(RYR2):c.5977C>T (p.Arg1993Cys)	SNV Germline	Chr1:237623825	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy	Criteria Provided Conflicting Classifications	CA087013	rs_767406030	3 SubmittersRCV000619247 RCV003153761 RCV005401531
NM_001035.3(RYR2):c.8899G>A (p.Val2967Ile)	SNV Germline	Chr1:237680459	Conflicting classifications of pathogenicity	Cardiovascular phenotype Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA087785	rs_751546090	3 SubmittersRCV000619095 RCV000776218 RCV002531784
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=)	SNV Germline	Chr1:237709537	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 not specified Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA084211	rs_779316628	7 SubmittersRCV000621241 RCV001096094 RCV001096095 RCV002282264 RCV004002637 RCV001180586 RCV001613406
NM_001035.3(RYR2):c.11217G>A (p.Met3739Ile)	SNV Germline	Chr1:237756359	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA345425904	rs_397516502	3 SubmittersRCV000618525 RCV001254758 RCV002531736
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn)	SNV Germline	Chr1:237784932	Conflicting classifications of pathogenicity	Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085311	rs_755585430	5 SubmittersRCV000621019 RCV001101827 RCV001101828 RCV000772659 RCV004002654
NM_006073.4(TRDN):c.1019A>G (p.Glu340Gly)	SNV Germline	Chr6:123438095	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3984176	rs_745751151	3 SubmittersRCV000618950 RCV002531780 RCV004808534
NM_001035.3(RYR2):c.848+8G>C	SNV Germline	Chr1:237417131	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 not specified Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA087647	rs_373075790	3 SubmittersRCV001102205 RCV001823741 RCV001102206
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu)	SNV Germline	Chr1:237589854	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA39802038	rs_1019112544	6 SubmittersRCV000765088 RCV001766367 RCV002458037 RCV002529899 RCV003532214 RCV004003864
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)	SNV Germline	Chr1:237503465	Conflicting classifications of pathogenicity	Sudden death Hypertrophic cardiomyopathy Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA086075	rs_377068202	9 SubmittersRCV000678750 RCV000768528 RCV000773287 RCV002492993 RCV002458039 RCV002529925 RCV004691265 RCV004702230
NM_001035.3(RYR2):c.5046A>C (p.Glu1682Asp)	SNV Germline	Chr1:237614174	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA086824	rs_3766870	3 SubmittersRCV001181045 RCV002529898 RCV004025537
NM_001035.3(RYR2):c.2357G>A (p.Gly786Asp)	SNV Germline	Chr1:237500864	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Condition: not provided	Criteria Provided Conflicting Classifications	CA086019	rs_182778119	6 SubmittersRCV001179074 RCV002448989 RCV002529906 RCV004003868 RCV004691264
NM_001035.3(RYR2):c.94C>A (p.Gln32Lys)	SNV Germline	Chr1:237270542	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA345654356	rs_1553373926	4 SubmittersRCV001089524 RCV002377396
NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr)	SNV Germline	Chr1:237819187	Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA345426834	rs_1553339084	1 SubmittersRCV002529895
NM_001035.3(RYR2):c.3397C>T (p.Arg1133Cys)	SNV Germline	Chr1:237566749	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086361	rs_748085424	4 SubmittersRCV001175901 RCV002458036 RCV002533219 RCV004003863
NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala)	SNV Germline	Chr1:237783803	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085124	rs_755148895	6 SubmittersRCV000771485 RCV001509129 RCV002343257 RCV002507087 RCV002533221 RCV004003867
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)	SNV Germline	Chr1:237590715	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia not specified	Criteria Provided Conflicting Classifications	CA072160	rs_200574919	11 SubmittersRCV000773286 RCV001090708 RCV002358805 RCV002499074 RCV002529892 RCV004003860 RCV004782484
NM_001035.3(RYR2):c.3932C>T (p.Ala1311Val)	SNV Germline	Chr1:237590764	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiomyopathy	Criteria Provided Conflicting Classifications	CA086503	rs_757471928	6 SubmittersRCV000786401 RCV002377395 RCV002533228 RCV004003873 RCV005401543
NM_001035.3(RYR2):c.3371C>T (p.Pro1124Leu)	SNV Germline	Chr1:237566723	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086359	rs_779640835	5 SubmittersRCV001191182 RCV002483823 RCV002458038 RCV002529903 RCV004003865
NM_001035.3(RYR2):c.7094A>G (p.Asn2365Ser)	SNV Germline	Chr1:237639180	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA087278	rs_369774984	4 SubmittersRCV001175905 RCV002360555 RCV002533226 RCV004003871
NM_001035.3(RYR2):c.3836G>C (p.Ser1279Thr)	SNV Germline	Chr1:237590668	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA086469	rs_751419465	3 SubmittersRCV002529935 RCV002358807 RCV003328611
NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys)	SNV Germline	Chr1:237628052	Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA345411490	rs_1553531703	1 SubmittersRCV002529923
NM_001035.3(RYR2):c.12326T>C (p.Met4109Thr)	SNV Germline	Chr1:237784038	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA345412972	rs_1373714510	2 SubmittersRCV002529907 RCV000657964
NM_001035.3(RYR2):c.14553C>A (p.Phe4851Leu)	SNV Germline	Chr1:237819155	Conflicting classifications of pathogenicity	Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA345426597	rs_1291829047	3 SubmittersRCV001569166 RCV002060740
NM_001035.3(RYR2):c.13410C>T (p.Tyr4470=)	SNV Germline	Chr1:237788069	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia not specified	Criteria Provided Conflicting Classifications	CA085368	rs_183933829	6 SubmittersRCV001096403 RCV001096404 RCV001175625 RCV002386041 RCV004003894 RCV005056362
NM_006073.4(TRDN):c.1808G>C (p.Gly603Ala)	SNV Germline	Chr6:123260635	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA3983730	rs_766406818	3 SubmittersRCV002529917 RCV002406374 RCV001571719
NM_006073.4(TRDN):c.1276A>C (p.Thr426Pro)	SNV Germline	Chr6:123366180	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA147256172	rs_1040336692	3 SubmittersRCV002293467 RCV002377394 RCV002533217
NM_006073.4(TRDN):c.1187-2A>G	SNV Germline	Chr6:123377900	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 5 Catecholaminergic polymorphic ventricular tachycardia 1 TRDN-related disorder Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 5	Criteria Provided Conflicting Classifications	CA3984080	rs_578024729	7 SubmittersRCV000680131 RCV002531412 RCV003411589 RCV002334239 RCV004588103 RCV005367495
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys)	SNV Germline	Chr1:237369568	Pathogenic/Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Multiple Submitters No Conflicts	CA345654978	rs_1558698334	2 SubmittersRCV001248793
NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln)	SNV Germline	Chr1:237454521	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085612	rs_765389300	5 SubmittersRCV001187697 RCV002531479 RCV002477572 RCV003362898 RCV003999607
NM_001035.3(RYR2):c.3477C>T (p.Gly1159=)	SNV Germline	Chr1:237569198	Conflicting classifications of pathogenicity	Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA086393	rs_780861754	3 SubmittersRCV002334324 RCV002485693 RCV002534331
NM_001035.3(RYR2):c.6793-3C>T	SNV Germline	Chr1:237638354	Conflicting classifications of pathogenicity	Cardiomyopathy not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA087225	rs_372314209	5 SubmittersRCV001187693 RCV001585627 RCV002360752 RCV002532229 RCV003442026
NM_001035.3(RYR2):c.9779G>A (p.Arg3260Gln)	SNV Germline	Chr1:237707147	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA087957	rs_750415021	4 SubmittersRCV001525328 RCV003999783 RCV003103832 RCV005268737
NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu)	SNV Germline	Chr1:237778753	Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA345409507	rs_1558393802	1 SubmittersRCV002533476
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)	SNV Germline	Chr1:237784887	Conflicting classifications of pathogenicity	Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Cardiomyopathy Cardiovascular phenotype not specified Catecholaminergic polymorphic ventricular tachycardia Condition: not provided	Criteria Provided Conflicting Classifications	CA085303	rs_753733164	7 SubmittersRCV001101825 RCV001101826 RCV001181816 RCV002386225 RCV003235360 RCV003999677 RCV004691284
NM_001035.3(RYR2):c.13303A>G (p.Thr4435Ala)	SNV Germline	Chr1:237786011	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA085334	rs_374019555	4 SubmittersRCV001181824 RCV002386264 RCV002533709 RCV005411548
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys)	SNV Germline	Chr1:115725543	Conflicting classifications of pathogenicity	Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA1023766	rs_151115064	4 SubmittersRCV002388254 RCV002532267 RCV002485675 RCV004691282
NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu)	SNV Germline	Chr1:237590709	Conflicting classifications of pathogenicity	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA39802811	rs_962100875	3 SubmittersRCV003227834 RCV002493209 RCV003525945
NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val)	SNV Germline	Chr1:237784251	Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA345413580	rs_1558405816	1 SubmittersRCV002547161
NM_001035.3(RYR2):c.13528G>C (p.Ala4510Pro)	SNV Germline	Chr1:237791480	Pathogenic/Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA345417159	rs_397516510	2 SubmittersRCV002547124 RCV005401571
NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met)	SNV Germline	Chr1:237819188	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA345426847	rs_1558481148	1 SubmittersRCV002532206
NM_001035.3(RYR2):c.1024G>A (p.Val342Met)	SNV Germline	Chr1:237441337	Conflicting classifications of pathogenicity	Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA077002	rs_371898166	4 SubmittersRCV002386171 RCV002477531 RCV002544768 RCV004004259
NM_001035.3(RYR2):c.13778T>C (p.Leu4593Ser)	SNV Germline	Chr1:237792319	Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA345417722	rs_1558424746	1 SubmittersRCV002533506
NM_001035.3(RYR2):c.2029T>A (p.Leu677Met)	SNV Germline	Chr1:237496578	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA069394	rs_750815004	2 SubmittersRCV002547162 RCV004802362
NM_001035.3(RYR2):c.4097C>A (p.Thr1366Asn)	SNV Germline	Chr1:237590929	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086531	rs_531412940	4 SubmittersRCV001180072 RCV002325348 RCV002531433 RCV004004227
NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys)	SNV Germline	Chr1:237593587	Conflicting classifications of pathogenicity	Hypertrophic cardiomyopathy Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086601	rs_764144130	5 SubmittersRCV000768530 RCV001805820 RCV002533705 RCV002507234 RCV003999747
NM_001035.3(RYR2):c.6646G>C (p.Asp2216His)	SNV Germline	Chr1:237633668	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA345394253	rs_1558103974	1 SubmittersRCV002531451
NM_001035.3(RYR2):c.11624T>C (p.Val3875Ala)	SNV Germline	Chr1:237772078	Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA345407229	rs_1558381851	1 SubmittersRCV002533719
NM_001035.3(RYR2):c.12477G>T (p.Gln4159His)	SNV Germline	Chr1:237784189	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA345413422	rs_1558405653	1 SubmittersRCV002533615
NM_006073.4(TRDN):c.529A>T (p.Lys177Ter)	SNV Germline	Chr6:123516162	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA365568216	rs_1468290898	1 SubmittersRCV002532870
NM_006073.4(TRDN):c.1754G>A (p.Arg585Gln)	SNV Germline	Chr6:123267736	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA3983769	rs_199986608	3 SubmittersRCV002397454 RCV003148835 RCV002533632
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=)	SNV Germline	Chr1:237610953	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA086756	rs_369323506	5 SubmittersRCV000768769 RCV002332547 RCV003999917 RCV002533948
NM_001035.3(RYR2):c.4276-9T>C	SNV Germline	Chr1:237593467	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA913189733	rs_1559081633	2 SubmittersRCV000768763 RCV002533947
NM_001035.3(RYR2):c.5916+9A>G	SNV Germline	Chr1:237617495	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 not specified	Criteria Provided Conflicting Classifications	CA39833835	rs_1002006336	3 SubmittersRCV000769788 RCV002533953 RCV003230583
NM_001035.3(RYR2):c.9581-8T>C	SNV Germline	Chr1:237706941	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA913189687	rs_1558258551	2 SubmittersRCV000768780 RCV002536603
NM_001035.3(RYR2):c.10725+4A>T	SNV Germline	Chr1:237726312	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 Condition: not provided Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA084497	rs_116444428	7 SubmittersRCV000769801 RCV001101643 RCV001101644 RCV002260667 RCV002422653 RCV003999931
NM_001035.3(RYR2):c.2045C>G (p.Thr682Arg)	SNV Germline	Chr1:237496594	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia RYR2-related disorder	Criteria Provided Conflicting Classifications	CA085949	rs_377285489	5 SubmittersRCV000772879 RCV003307406 RCV002534038 RCV003999990 RCV004535898
NM_001035.3(RYR2):c.3122G>A (p.Arg1041Gln)	SNV Germline	Chr1:237550599	Conflicting classifications of pathogenicity	Cardiomyopathy Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA086314	rs_773781713	5 SubmittersRCV000774277 RCV001759455 RCV002534128 RCV004001378 RCV005268746
NM_001035.3(RYR2):c.3226G>A (p.Glu1076Lys)	SNV Germline	Chr1:237566578	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086339	rs_781547572	4 SubmittersRCV000774491 RCV002536683 RCV003159160 RCV004001406
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu)	SNV Germline	Chr1:237614556	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Arrhythmogenic right ventricular dysplasia 2 not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA086888	rs_754364233	6 SubmittersRCV000774172 RCV001100856 RCV001100857 RCV003317363 RCV004659197 RCV004001359
NM_001035.3(RYR2):c.5593G>A (p.Glu1865Lys)	SNV Germline	Chr1:237614721	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA086915	rs_553819263	4 SubmittersRCV000774210 RCV004001364 RCV002343625 RCV002536678
NM_001035.3(RYR2):c.5680C>A (p.Leu1894Ile)	SNV Germline	Chr1:237614808	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy RYR2-related disorder Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA086934	rs_555692728	5 SubmittersRCV000774547 RCV002343630 RCV001293046 RCV004535904 RCV002534149
NM_001035.3(RYR2):c.8449G>A (p.Ala2817Thr)	SNV Germline	Chr1:237666524	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia Condition: not provided	Criteria Provided Conflicting Classifications	CA087629	rs_527576067	5 SubmittersRCV000774381 RCV002442587 RCV002534138 RCV004001393 RCV005411559
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)	SNV Germline	Chr1:237700290	Conflicting classifications of pathogenicity	Cardiomyopathy Arrhythmogenic right ventricular dysplasia 2 Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 2 Catecholaminergic polymorphic ventricular tachycardia 1 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Condition: not provided Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA087845	rs_375482798	7 SubmittersRCV000774129 RCV001332697 RCV002370037 RCV002507343 RCV002509530 RCV002536675
NM_001035.3(RYR2):c.12331A>C (p.Asn4111His)	SNV Germline	Chr1:237784043	Conflicting classifications of pathogenicity	Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia	Criteria Provided Conflicting Classifications	CA085169	rs_192890834	5 SubmittersRCV000774039 RCV002534110 RCV003317362 RCV004027260 RCV004001343
NM_001035.3(RYR2):c.14875C>T (p.Arg4959Trp)	SNV Germline	Chr1:237832618	Conflicting classifications of pathogenicity	Cardiomyopathy not specified Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA085786	rs_755308070	4 SubmittersRCV000774059 RCV002282363 RCV002388395 RCV005092267
NM_001035.3(RYR2):c.1511G>A (p.Arg504His)	SNV Germline	Chr1:237456634	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Catecholaminergic polymorphic ventricular tachycardia 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA085797	rs_201600087	6 SubmittersRCV000781822 RCV001187355 RCV001258370 RCV002388409
NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg)	SNV Unknown	Chr1:237778678	Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA345409022	rs_1573911397	1 SubmittersRCV000790451
NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter)	SNV Germline	Chr1:115705275	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA341766905	rs_1471576368	1 SubmittersRCV002537226
NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter)	SNV Germline	Chr1:115738281	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA1023900	rs_375598471	1 SubmittersRCV002537337
NM_001035.3(RYR2):c.854G>T (p.Ser285Ile)	SNV Germline	Chr1:237423097	Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Single Submitter	CA345385133	rs_1342435908	1 SubmittersRCV002537344
NM_001035.3(RYR2):c.1504A>G (p.Ile502Val)	SNV Germline	Chr1:237456627	Conflicting classifications of pathogenicity	Cardiomyopathy Cardiovascular phenotype Catecholaminergic polymorphic ventricular tachycardia 1	Criteria Provided Conflicting Classifications	CA345381363	rs_1309242606	3 SubmittersRCV001181917 RCV002390682 RCV002535495
NM_001035.3(RYR2):c.1574C>G (p.Ser525Cys)	SNV Germline	Chr1:237456697	Conflicting classifications of pathogenicity	Catecholaminergic polymorphic ventricular tachycardia 1 Condition: not provided Cardiovascular phenotype Cardiomyopathy	Criteria Provided Conflicting Classifications	CA085818	rs_776188922	5 SubmittersRCV002537992 RCV001698773 RCV003307449 RCV005401611

NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu)

SNV
Germline

Chr1:237634937

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA010282

rs_121918597

5 SubmittersRCV000013820 RCV000182746 RCV001798004 RCV003298032

NM_001035.3(RYR2):c.7422G>C (p.Arg2474Ser)

SNV
Germline

Chr1:237648523

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

No Assertion Criteria Provided

CA010703

rs_121918598

1 SubmittersRCV000013821

NM_001035.3(RYR2):c.12312C>G (p.Asn4104Lys)

SNV
Germline

Chr1:237784024

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

No Assertion Criteria Provided

CA007463

rs_121918599

1 SubmittersRCV000013822

NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys)

SNV
Germline

Chr1:237791441

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA007921

rs_121918600

7 SubmittersRCV000013823 RCV000478561 RCV000617445 RCV003149571

NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile)

SNV
Germline

Chr1:237640938

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA010563

rs_121918601

2 SubmittersRCV003151726

NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro)

SNV
Germline

Chr1:237454396

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia
Long QT syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007785

rs_121918602

4 SubmittersRCV000151756 RCV000190229 RCV000780694 RCV003151727

NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser)

SNV
Germline

Chr1:237639068

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA010458

rs_121918603

3 SubmittersRCV000013826

NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe)

SNV
Germline

Chr1:237798037

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA008087

rs_121918604

4 SubmittersRCV000013827

NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg)

SNV
Germline

Chr1:237784314

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA007638

rs_121918605

3 SubmittersRCV000013828

NM_001943.5(DSG2):c.166G>A (p.Val56Met)

SNV
Germline

Chr18:31519887

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 10
Dilated cardiomyopathy 1BB
not specified
Arrhythmogenic right ventricular cardiomyopathy
Primary familial hypertrophic cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
Long QT syndrome
DSG2-related disorder

Criteria Provided
Conflicting Classifications

CA021523

rs_121913013

28 SubmittersRCV000018311 RCV000018312 RCV000037270 RCV000148471 RCV000157179 RCV000157180 RCV000243248 RCV000769508 RCV000757183 RCV000852739 RCV003944829

NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)

SNV
Germline

Chr1:237500774

Conflicting classifications of pathogenicity

not specified
Ventricular fibrillation, paroxysmal familial, type 1
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA008736

rs_193922623

12 SubmittersRCV000036714 RCV000157446 RCV000242970 RCV000287643 RCV001093912 RCV000786207 RCV001181067

NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)

SNV
Germline

Chr1:237566603

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Primary dilated cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Cardiac arrhythmia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA009157

rs_193922624

10 SubmittersRCV000036727 RCV000171675 RCV000157452 RCV000621688 RCV001190169 RCV001841541 RCV002513261

NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)

SNV
Germline

Chr1:237590901

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA009446

rs_193922626

7 SubmittersRCV000030422 RCV000154818 RCV001097194 RCV001097193 RCV003996140 RCV004018690

NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)

SNV
Germline

Chr1:237614714

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiac arrhythmia
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009888

rs_193922628

15 SubmittersRCV000036768 RCV000272540 RCV000252666 RCV000769786 RCV001093868 RCV001841543 RCV001530065 RCV003996141

NM_006888.6(CALM1):c.161A>T (p.Asn54Ile)

SNV
Germline

Chr14:90401385

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 4
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA343809

rs_267607276

5 SubmittersRCV000032976 RCV000157133

NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)

SNV
Germline

Chr14:90404386

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 4
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 4
Long QT syndrome 14
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
CALM1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA343812

rs_267607277

10 SubmittersRCV000032977 RCV000157134 RCV000526484 RCV000714909 RCV002433484 RCV004758616

NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)

SNV
Germline

Chr1:115768445

Pathogenic/Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 2
Long QT syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA301925

rs_397507556

9 SubmittersRCV000170900 RCV000033942 RCV003318336 RCV005305949 RCV005428996 RCV002513332

NM_001035.3(RYR2):c.10142+4T>C

SNV
Germline

Chr1:237709102

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006541

rs_397516496

7 SubmittersRCV000036646 RCV001192358 RCV002513391 RCV001636621 RCV003996232 RCV004018802

NM_001035.3(RYR2):c.10324-4A>G

SNV
Germline

Chr1:237717194

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA006610

rs_72751287

20 SubmittersRCV000036649 RCV000202863 RCV000246904 RCV000768787 RCV001528231 RCV001097852 RCV004534774

NM_001035.3(RYR2):c.10641G>A (p.Thr3547=)

SNV
Germline

Chr1:237723214

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA006725

rs_144256966

11 SubmittersRCV000036652 RCV000723746 RCV000391538 RCV000769800 RCV001093894 RCV003996236

NM_001035.3(RYR2):c.11092-6A>T

SNV
Germline

Chr1:237742290

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA006880

rs_397516501

7 SubmittersRCV000036656 RCV000777803 RCV001709477 RCV002513394 RCV003996238

NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser)

SNV
Germline

Chr1:237759848

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA006987

rs_397516504

6 SubmittersRCV000036661 RCV001525529 RCV002496571 RCV003996240 RCV004566804 RCV002513397

NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg)

SNV
Germline

Chr1:237441476

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007114

rs_397516506

4 SubmittersRCV000036665 RCV002482979 RCV002513400 RCV003996243

NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr)

SNV
Germline

Chr1:237783759

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Criteria Provided
Conflicting Classifications

CA007324

rs_375021201

8 SubmittersRCV000036670 RCV000378772 RCV001182008 RCV001093785 RCV000766732 RCV003996246 RCV004018804 RCV002482980

NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)

SNV
Germline

Chr1:237783871

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007352

rs_41267517

17 SubmittersRCV000036671 RCV000247809 RCV000349414 RCV000724810 RCV000769809 RCV001093786 RCV003996247

NM_001035.3(RYR2):c.12544G>C (p.Glu4182Gln)

SNV
Germline

Chr1:237784256

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA007580

rs_397516508

4 SubmittersRCV000036672 RCV000182821 RCV004786309 RCV005403741

NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)

SNV
Germline

Chr1:237784417

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA007686

rs_373606009

15 SubmittersRCV000036673 RCV000724635 RCV000620335 RCV000777965 RCV002513401 RCV003996248 RCV004541104

NM_001035.3(RYR2):c.13137C>A (p.Ile4379=)

SNV
Germline

Chr1:237784849

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007810

rs_369917806

10 SubmittersRCV000036675 RCV000617184 RCV001101824 RCV001529567 RCV000777845 RCV001101823 RCV003996249

NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr)

SNV
Germline

Chr1:237791480

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA007947

rs_397516510

9 SubmittersRCV000036678 RCV000231726 RCV000208469 RCV000786402 RCV000769812

NM_001035.3(RYR2):c.14167G>A (p.Ala4723Thr)

SNV
Germline

Chr1:237806152

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008183

rs_397516514

6 SubmittersRCV000036693 RCV001175858 RCV001797049 RCV002513407 RCV003162319 RCV003996256

NM_001035.3(RYR2):c.1476+4C>T

SNV
Germline

Chr1:237454578

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA008377

rs_369442980

10 SubmittersRCV000036701 RCV000243869 RCV000771887 RCV001705662 RCV002513409

NM_001035.3(RYR2):c.1548T>C (p.Asp516=)

SNV
Germline

Chr1:237456671

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008488

rs_146129084

13 SubmittersRCV000036706 RCV000618567 RCV001100322 RCV001100323 RCV000771845 RCV001528256 RCV003996261

NM_001035.3(RYR2):c.2719-4T>A

SNV
Germline

Chr1:237511684

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008938

rs_397516523

6 SubmittersRCV000036720 RCV000769779 RCV004018806 RCV002513413 RCV003996267

NM_001035.3(RYR2):c.2760G>A (p.Glu920=)

SNV
Germline

Chr1:237511729

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008950

rs_186181155

18 SubmittersRCV000036721 RCV000368575 RCV000618697 RCV000724532 RCV000769780 RCV001093756 RCV003996268

NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)

SNV
Germline

Chr1:237550629

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Criteria Provided
Conflicting Classifications

CA009104

rs_79457258

17 SubmittersRCV000036724 RCV000726778 RCV001178115 RCV001248788 RCV003996271 RCV004018807 RCV005394223

NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)

SNV
Germline

Chr1:237550630

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA009112

rs_397516524

7 SubmittersRCV000036725 RCV000251649 RCV000769782 RCV001097096 RCV001097097

NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala)

SNV
Germline

Chr1:237566582

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA009141

rs_202176504

6 SubmittersRCV000036726 RCV001191833 RCV002444472 RCV002513414

NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)

SNV
Germline

Chr1:237566672

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Death in infancy
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA009188

rs_200236750

14 SubmittersRCV000036728 RCV000171761 RCV000234976 RCV000656971 RCV000771794 RCV000620350 RCV004541106

NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)

SNV
Germline

Chr1:237566732

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Sudden cardiac death
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Sudden unexplained death
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA009209

rs_200525962

17 SubmittersRCV000036729 RCV000171762 RCV000157454 RCV001293091 RCV001098853 RCV001098854 RCV000769783 RCV001254751 RCV002453307

NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)

SNV
Germline

Chr1:237589915

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA009332

rs_185715460

10 SubmittersRCV000036736 RCV000768761 RCV000724637 RCV001824587 RCV003996277 RCV004018809

NM_001035.3(RYR2):c.4068C>T (p.Pro1356=)

SNV
Germline

Chr1:237590900

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA009440

rs_199821105

9 SubmittersRCV000036739 RCV000405365 RCV001719733 RCV001189398 RCV001093761 RCV002321507 RCV003996279 RCV004739325

NM_001035.3(RYR2):c.4160+7A>G

SNV
Germline

Chr1:237590999

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA009481

rs_377465289

5 SubmittersRCV000036742 RCV000726257 RCV002513420

NM_001035.3(RYR2):c.4734C>T (p.Pro1578=)

SNV
Germline

Chr1:237610812

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009663

rs_201880756

9 SubmittersRCV000036755 RCV000589910 RCV000300038 RCV000620163 RCV000771249 RCV001093874 RCV003996285

NM_001035.3(RYR2):c.506G>A (p.Arg169Gln)

SNV
Germline

Chr1:237377365

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA009771

rs_397516539

6 SubmittersRCV000036762 RCV000182658 RCV000621755 RCV002513428

NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)

SNV
Germline

Chr1:237614747

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009911

rs_373282364

15 SubmittersRCV000036769 RCV000245051 RCV000309384 RCV001093879 RCV000777598 RCV001528654 RCV003996292

NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)

SNV
Germline

Chr1:237627977

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA010110

rs_186906598

11 SubmittersRCV000036777 RCV000171764 RCV000620555 RCV000766718 RCV000769789 RCV001099125 RCV004803128

NM_001035.3(RYR2):c.684C>T (p.Leu228=)

SNV
Germline

Chr1:237388094

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA010348

rs_72549417

11 SubmittersRCV000036782 RCV000265346 RCV000589666 RCV000768754 RCV001093846 RCV003996296 RCV002362626

NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)

SNV
Germline

Chr1:237649983

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
RYR2-related disorder
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA010752

rs_200105499

9 SubmittersRCV000036792 RCV000252890 RCV000766722 RCV001170261 RCV004534780 RCV002513440

NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)

SNV
Germline

Chr1:237657976

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Wolff-Parkinson-White pattern
Arrhythmogenic right ventricular cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA010859

rs_201500134

19 SubmittersRCV000036794 RCV000227013 RCV000656198 RCV000590879 RCV000621651 RCV000771869 RCV001095884 RCV001095885 RCV004803129 RCV004541108

NM_001035.3(RYR2):c.8209-3A>G

SNV
Germline

Chr1:237659982

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy with left ventricular noncompaction
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA010885

rs_376788358

8 SubmittersRCV000036795 RCV000678751 RCV000621356 RCV001175859 RCV001719734 RCV002513441 RCV004534781

NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr)

SNV
Germline

Chr1:237660820

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA010940

rs_397516550

7 SubmittersRCV000036796 RCV001095886 RCV001095887 RCV001175860 RCV002496576 RCV003996303 RCV004017312

NM_001035.3(RYR2):c.9067+12C>T

SNV
Germline

Chr1:237687516

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA011108

rs_112365440

11 SubmittersRCV000036802 RCV001101435 RCV001101436 RCV001529841

NM_001035.3(RYR2):c.9450-3T>C

SNV
Germline

Chr1:237705210

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA011215

rs_188671846

9 SubmittersRCV000036805 RCV000621928 RCV001573377 RCV001182491 RCV002513443

NM_001035.3(RYR2):c.998C>T (p.Ser333Phe)

SNV
Germline

Chr1:237423241

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA011384

rs_397516552

4 SubmittersRCV000036809 RCV001175861 RCV002513447 RCV003996307

NM_001232.4(CASQ2):c.1148A>G (p.Asp383Gly)

SNV
Germline

Chr1:115701293

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA133693

rs_397516640

5 SubmittersRCV000037132 RCV004018828 RCV002513461 RCV003343611 RCV005600630

NM_001232.4(CASQ2):c.198G>A (p.Thr66=)

SNV
Germline

Chr1:115768344

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2

Criteria Provided
Conflicting Classifications

CA282346

rs_74114618

9 SubmittersRCV000037137 RCV000585900 RCV000768706 RCV002513466 RCV001093917

NM_001232.4(CASQ2):c.421-14G>A

SNV
Germline

Chr1:115738349

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1
CASQ2-related disorder

Criteria Provided
Conflicting Classifications

CA210965

rs_139281637

8 SubmittersRCV000037140 RCV000625054 RCV002513469 RCV003952428

NM_001232.4(CASQ2):c.421-15C>G

SNV
Germline

Chr1:115738350

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA133704

rs_199939582

8 SubmittersRCV000037141 RCV000625055 RCV002513470

NM_001232.4(CASQ2):c.421-15C>T

SNV
Germline

Chr1:115738350

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA133705

rs_199939582

4 SubmittersRCV000037142 RCV001100490 RCV002513471

NM_001232.4(CASQ2):c.481A>G (p.Ile161Val)

SNV
Germline

Chr1:115738275

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
CASQ2-related disorder

Criteria Provided
Conflicting Classifications

CA133706

rs_146333579

6 SubmittersRCV000037143 RCV000244068 RCV001719739 RCV003103723 RCV004757956

NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)

SNV
Germline

Chr1:156136257

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Charcot-Marie-Tooth disease
Cardiovascular phenotype
Primary dilated cardiomyopathy
not specified
11 conditions

Criteria Provided
Conflicting Classifications

CA016870

rs_61094188

20 SubmittersRCV000057258 RCV000157295 RCV000172002 RCV000528639 RCV000769728 RCV001172616 RCV002345327 RCV003996453 RCV004767033 RCV005042118

NM_006073.4(TRDN):c.613C>T (p.Gln205Ter)

SNV
Germline

Chr6:123503899

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 5
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 5
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Multiple Submitters
No Conflicts

CA144820

rs_397515458

8 SubmittersRCV000056260 RCV003103726 RCV000484797 RCV002354248 RCV002496743 RCV004017360

NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys)

SNV
Germline

Chr4:113360849

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA329720

rs_180843436

7 SubmittersRCV000058340 RCV000143869 RCV000375362 RCV002483106 RCV000818116 RCV004019025

NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)

SNV
Germline

Chr3:38633256

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
not specified
Cardiac arrhythmia
Arrhythmogenic right ventricular cardiomyopathy
Brugada syndrome 1
Dilated cardiomyopathy 1E
Sick sinus syndrome 1
Progressive familial heart block, type 1A
Ventricular fibrillation, paroxysmal familial, type 1
Long QT syndrome 3

Criteria Provided
Conflicting Classifications

CA019099

rs_199473044

11 SubmittersRCV000058764 RCV000157474 RCV000619162 RCV000212988 RCV001842382 RCV000623091 RCV000987246 RCV001146622 RCV001146621 RCV001146623 RCV001146624 RCV001146625

NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=)

SNV
Germline

Chr1:237550657

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009126

rs_398123540

7 SubmittersRCV000079379 RCV000723751 RCV001181117 RCV002515761 RCV003162508 RCV003997205

NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)

SNV
Germline

Chr1:237423225

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Wolff-Parkinson-White pattern
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA011326

rs_201669522

9 SubmittersRCV000079381 RCV000391386 RCV000656194 RCV001093747 RCV001189215 RCV002498396 RCV003380409 RCV003997206

NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)

SNV
Germline

Chr1:237590720

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
RYR2-related disorder
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009386

rs_373721253

16 SubmittersRCV000151759 RCV000617215 RCV000724268 RCV000768762 RCV002514691 RCV004544282 RCV003997457

NM_001035.3(RYR2):c.5571G>A (p.Pro1857=)

SNV
Germline

Chr1:237614699

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009882

rs_371934582

9 SubmittersRCV000151763 RCV000621601 RCV000402454 RCV001093867 RCV001190173 RCV003221817 RCV003997458

NM_001035.3(RYR2):c.10017C>T (p.His3339=)

SNV
Germline

Chr1:237708973

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA006488

rs_376439588

13 SubmittersRCV000127846 RCV000263240 RCV000619991 RCV000858422 RCV001093729 RCV001186657 RCV003997463 RCV004544284

NM_001035.3(RYR2):c.10231-5C>T

SNV
Germline

Chr1:237711740

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006571

rs_186326951

12 SubmittersRCV000127848 RCV000373146 RCV000777784 RCV001093730 RCV001705921 RCV002371972

NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)

SNV
Germline

Chr1:237610770

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Primary familial hypertrophic cardiomyopathy
not specified
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009643

rs_201675951

7 SubmittersRCV000143946 RCV000157455 RCV000182725 RCV000766716 RCV001186230 RCV002514771 RCV003998155

NM_001035.3(RYR2):c.6433G>C (p.Gly2145Arg)

SNV
Germline

Chr1:237628073

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA010129

rs_587782974

6 SubmittersRCV000143947 RCV003314565 RCV003998156 RCV004019757 RCV002515937

NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)

SNV
Germline

Chr1:237548562

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA009033

rs_149514924

15 SubmittersRCV000148833 RCV000182707 RCV000589142 RCV000619628 RCV000771801 RCV001102502

NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val)

SNV
Germline

Chr1:237648594

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA010721

rs_374191985

7 SubmittersRCV000148832 RCV000769796 RCV002288659 RCV002390314

NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp)

SNV
Germline

Chr1:115701310

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA175352

rs_148824162

5 SubmittersRCV000150219 RCV000618959 RCV002514879

NM_001232.4(CASQ2):c.923C>A (p.Pro308Gln)

SNV
Germline

Chr1:115705208

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA175358

rs_139228801

2 SubmittersRCV000150221 RCV002516016

NM_001232.4(CASQ2):c.270C>A (p.Gly90=)

SNV
Germline

Chr1:115744877

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181174

rs_72554056

6 SubmittersRCV000154690 RCV001093916 RCV002516107 RCV002426743

NM_001035.3(RYR2):c.649A>G (p.Ile217Val)

SNV
Germline

Chr1:237387353

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA010179

rs_200642525

13 SubmittersRCV000151754 RCV000171760 RCV000619874 RCV000415633 RCV001171188 RCV001098450

NM_001035.3(RYR2):c.1612+13A>G

SNV
Germline

Chr1:237456748

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA008512

rs_368200572

5 SubmittersRCV000156613 RCV000339701 RCV000393529 RCV001701536

NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)

SNV
Germline

Chr1:237493065

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA008643

rs_202040519

9 SubmittersRCV000154813 RCV000656970 RCV000771900 RCV000619369 RCV002470780 RCV002478454 RCV003147363 RCV003147362

NM_001035.3(RYR2):c.2755G>A (p.Val919Met)

SNV
Germline

Chr1:237511724

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA008944

rs_201079716

9 SubmittersRCV000154815 RCV000515405 RCV001186656 RCV002514976 RCV002433679 RCV001256781

NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)

SNV
Germline

Chr1:237548459

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA008979

rs_202015519

7 SubmittersRCV000154816 RCV000246594 RCV000766712 RCV001100557 RCV001100558 RCV001178122

NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)

SNV
Germline

Chr1:237595526

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Long QT syndrome
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA009541

rs_200450676

12 SubmittersRCV000154819 RCV000515200 RCV000678836 RCV000725016 RCV000768765 RCV002326882 RCV002514978

NM_001035.3(RYR2):c.6689-12T>C

SNV
Germline

Chr1:237634877

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010256

rs_370972311

7 SubmittersRCV000151764 RCV000306276 RCV000405632 RCV000771789 RCV003221825

NM_001035.3(RYR2):c.6983C>T (p.Pro2328Leu)

SNV
Germline

Chr1:237639069

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA010470

rs_727503401

6 SubmittersRCV000151765 RCV001177588 RCV002514927 RCV003998222 RCV005394511

NM_001035.3(RYR2):c.7076G>A (p.Arg2359Gln)

SNV
Germline

Chr1:237639162

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA010522

rs_727504976

5 SubmittersRCV000156389 RCV001804869 RCV002515017 RCV003998312 RCV004658976

NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)

SNV
Germline

Chr1:237706987

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA011262

rs_372601642

8 SubmittersRCV000154822 RCV000266128 RCV000777709 RCV000618927 RCV001093778 RCV003998277

NM_001035.3(RYR2):c.10495-14A>G

SNV
Germline

Chr1:237718448

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA006644

rs_727505057

4 SubmittersRCV000156487 RCV000346271 RCV000384549 RCV001185015

NM_001035.3(RYR2):c.12859T>C (p.Tyr4287His)

SNV
Germline

Chr1:237784571

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007731

rs_190009333

5 SubmittersRCV000151774 RCV000777991 RCV002381474 RCV003153435 RCV003998228

NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)

SNV
Germline

Chr1:237785999

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Left ventricular noncompaction
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Condition: not provided
Hypertrophic cardiomyopathy
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007871

rs_571985775

15 SubmittersRCV000151775 RCV000577997 RCV000577938 RCV000578054 RCV000620731 RCV000766733 RCV000852418 RCV000777878 RCV003998229

NM_001035.3(RYR2):c.14484G>T (p.Gly4828=)

SNV
Germline

Chr1:237819086

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA008287

rs_370996795

9 SubmittersRCV000154826 RCV000726399 RCV000618720 RCV001170492 RCV002516113

NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)

SNV
Germline

Chr1:115705203

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA175355

rs_141314684

8 SubmittersRCV000150220 RCV000617384 RCV000766689 RCV001096938 RCV001170441 RCV002516015

NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)

SNV
Germline

Chr1:115732940

Conflicting classifications of pathogenicity

not specified
Polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 2
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Sudden unexplained death
Catecholaminergic polymorphic ventricular tachycardia 1
CASQ2-related disorder

Criteria Provided
Conflicting Classifications

CA175364

rs_146664754

19 SubmittersRCV000150224 RCV000171562 RCV000415704 RCV000617394 RCV000723880 RCV000852589 RCV000999608 RCV002516017 RCV003945182

NM_001232.4(CASQ2):c.533-6C>T

SNV
Germline

Chr1:115732980

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA175367

rs_545407254

4 SubmittersRCV000150225 RCV001100487 RCV002514881 RCV003326359

NM_001035.3(RYR2):c.365G>A (p.Arg122His)

SNV
Germline

Chr1:237369589

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009317

rs_727503396

7 SubmittersRCV000151753 RCV000157442 RCV000620852 RCV001804860 RCV003998216

NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)

SNV
Germline

Chr1:237491919

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA008596

rs_727504718

9 SubmittersRCV000156007 RCV000477834 RCV000766708 RCV001177069 RCV002515008 RCV002408693

NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys)

SNV
Germline

Chr1:237506807

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
RYR2-related disorder
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA008925

rs_201131315

9 SubmittersRCV000156225 RCV000171674 RCV000620905 RCV000777596 RCV004739483 RCV002515012

NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)

SNV
Germline

Chr1:237548578

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009048

rs_113422365

9 SubmittersRCV000154814 RCV000252643 RCV000777999 RCV001102503 RCV001102504 RCV003998274

NM_001035.3(RYR2):c.3238G>A (p.Gly1080Ser)

SNV
Germline

Chr1:237566590

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA009148

rs_727504969

6 SubmittersRCV000156381 RCV002515016 RCV003998311 RCV004984693 RCV005600751 RCV005402857

NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln)

SNV
Germline

Chr1:237591819

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA009503

rs_727504850

8 SubmittersRCV000156199 RCV001179108 RCV002516154 RCV003998302 RCV001572495 RCV003227678 RCV005404281

NM_001035.3(RYR2):c.7513-8T>G

SNV
Germline

Chr1:237649869

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA010725

rs_727503402

4 SubmittersRCV000151767 RCV001177589 RCV003998224 RCV002516052

NM_001035.3(RYR2):c.10231-4T>C

SNV
Germline

Chr1:237711741

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA006564

rs_117180147

16 SubmittersRCV000154633 RCV000253861 RCV000333639 RCV000587853 RCV000768786 RCV001093782

NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)

SNV
Germline

Chr1:237732051

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
RYR2-related disorder
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA006813

rs_370332882

17 SubmittersRCV000151772 RCV000229147 RCV000621644 RCV000769804 RCV001096209 RCV001096208 RCV004544362 RCV003998227

NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala)

SNV
Germline

Chr11:47350016

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
not specified
Cardiomyopathy
Hypertrophic cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA015270

rs_727505267

8 SubmittersRCV000157303 RCV000156792 RCV001170215 RCV000811160 RCV003320578 RCV002336338

NM_001035.3(RYR2):c.3808-9G>A

SNV
Germline

Chr1:237590631

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA009359

rs_557880129

2 SubmittersRCV000153875 RCV002516096

NM_001035.3(RYR2):c.14703G>C (p.Val4901=)

SNV
Germline

Chr1:237830577

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
not specified
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA008343

rs_201371633

10 SubmittersRCV000153880 RCV000279576 RCV000378694 RCV000780696 RCV000619036 RCV000771788 RCV002516099 RCV004544403

NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr)

SNV
Germline

Chr1:237454416

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007818

rs_371878264

5 SubmittersRCV000157443 RCV002381509 RCV002516363 RCV002478470 RCV005051754

NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu)

SNV
Germline

Chr1:237492973

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA008618

rs_730880187

3 SubmittersRCV000157444 RCV000413365

NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)

SNV
Germline

Chr1:237500896

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA008789

rs_200121281

8 SubmittersRCV000157447 RCV000590785 RCV001191829 RCV003103738 RCV003998338 RCV002453531

NM_001035.3(RYR2):c.5420G>A (p.Arg1807Gln)

SNV
Germline

Chr1:237614548

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009854

rs_730880192

4 SubmittersRCV000157457 RCV001176787 RCV002515052 RCV003998340

NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)

SNV
Germline

Chr1:237657959

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA010841

rs_200420897

15 SubmittersRCV000157460 RCV000212982 RCV000171765 RCV000618062 RCV000769797 RCV001095882 RCV001095883 RCV003998341

NM_001035.3(RYR2):c.8209-4T>C

SNV
Germline

Chr1:237659981

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA010897

rs_371966353

6 SubmittersRCV000157461 RCV000252027 RCV000769798 RCV000929242 RCV002515053

NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg)

SNV
Germline

Chr1:237700452

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA011170

rs_730880194

3 SubmittersRCV000157462 RCV004804674

NM_001035.3(RYR2):c.12325A>G (p.Met4109Val)

SNV
Germline

Chr1:237784037

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007471

rs_730880196

3 SubmittersRCV000157465 RCV000242944

NM_001035.3(RYR2):c.14726C>T (p.Thr4909Ile)

SNV
Germline

Chr1:237830600

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

No Assertion Criteria Provided

CA008359

rs_730880201

1 SubmittersRCV000157470

NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)

SNV
Germline

Chr1:115705208

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA301936

rs_139228801

5 SubmittersRCV000170910 RCV000618569 RCV002516550 RCV003343669

NM_001232.4(CASQ2):c.878G>C (p.Arg293Pro)

SNV
Germline

Chr1:115705253

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2

Criteria Provided
Conflicting Classifications

CA301907

rs_377691566

3 SubmittersRCV000170893 RCV002515230 RCV003343667

NM_001232.4(CASQ2):c.809T>C (p.Ile270Thr)

SNV
Germline

Chr1:115717869

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA301904

rs_762381137

2 SubmittersRCV000170892 RCV003103739

NM_001232.4(CASQ2):c.606+1G>C

SNV
Germline

Chr1:115732900

Pathogenic/Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA301900

rs_786205791

3 SubmittersRCV000170889 RCV002517644 RCV003338440

NM_001035.3(RYR2):c.659G>A (p.Gly220Glu)

SNV
Germline

Chr1:237387363

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA010239

rs_786205454

2 SubmittersRCV000171171 RCV002516554

NM_001035.3(RYR2):c.9407G>A (p.Ser3136Asn)

SNV
Germline

Chr1:237702017

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA011190

rs_748194372

5 SubmittersRCV000171172 RCV001180081 RCV002516555 RCV004804782 RCV005480326

NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu)

SNV
Germline

Chr1:237709002

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy
not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA006517

rs_786205455

7 SubmittersRCV000171173 RCV000208443 RCV000611661 RCV002399612 RCV002470784

NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn)

SNV
Germline

Chr1:115701255

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 2
Progressive familial heart block
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1
not specified

Criteria Provided
Conflicting Classifications

CA236665

rs_368007942

12 SubmittersRCV000171631 RCV001102335 RCV002285273 RCV002326939 RCV002515246 RCV002485093 RCV003488420

NM_001035.3(RYR2):c.4445G>A (p.Arg1482His)

SNV
Germline

Chr1:237595506

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA009533

rs_373024059

9 SubmittersRCV000171763 RCV000212979 RCV000773225 RCV001098955 RCV001100766 RCV002326941

NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)

SNV
Germline

Chr1:237623771

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Conduction disorder of the heart
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA010073

rs_200318013

11 SubmittersRCV000171678 RCV000212981 RCV001170254 RCV001256774 RCV002354428 RCV002515249

NM_001035.3(RYR2):c.7807G>A (p.Ala2603Thr)

SNV
Germline

Chr1:237651484

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA010771

rs_59331340

5 SubmittersRCV000171680 RCV001179789 RCV002515250 RCV005268558

NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys)

SNV
Germline

Chr1:237726282

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA006749

rs_559154874

7 SubmittersRCV000171685 RCV000771978 RCV002408743 RCV002516562 RCV004739552

NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)

SNV
Germline

Chr1:237784631

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA007750

rs_200092869

11 SubmittersRCV000171768 RCV000212983 RCV000618657 RCV000776390 RCV001101822 RCV001101821 RCV004539578

NM_001035.3(RYR2):c.13267A>C (p.Lys4423Gln)

SNV
Germline

Chr1:237785975

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA007852

rs_376908332

6 SubmittersRCV000171687 RCV001179790 RCV002381551 RCV003995651 RCV002516563

NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser)

SNV
Germline

Chr1:237792141

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA007989

rs_199624074

8 SubmittersRCV000171688 RCV000212984 RCV001185803 RCV002381552 RCV003995652 RCV002516564

NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met)

SNV
Germline

Chr1:237792253

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008025

rs_200803276

8 SubmittersRCV000171689 RCV001179791 RCV002381553 RCV002478547 RCV002515251 RCV003995653

NM_001035.3(RYR2):c.2449C>G (p.Pro817Ala)

SNV
Germline

Chr1:237503341

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008854

rs_780266883

5 SubmittersRCV000176274 RCV000778017 RCV002516704 RCV003995683

NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)

SNV
Germline

Chr1:237566708

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
not specified

Criteria Provided
Conflicting Classifications

CA009195

rs_201312753

9 SubmittersRCV000724470 RCV000771974 RCV002321702 RCV002298503 RCV002517704 RCV003993857

NM_001035.3(RYR2):c.5712G>A (p.Leu1904=)

SNV
Germline

Chr1:237614840

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA009982

rs_377763336

5 SubmittersRCV000177899 RCV001526096 RCV001256934 RCV002516758 RCV005480329

NM_001035.3(RYR2):c.10059C>A (p.Leu3353=)

SNV
Germline

Chr1:237709015

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA006532

rs_370015676

4 SubmittersRCV000179682 RCV001185488 RCV002516798 RCV003996584

NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)

SNV
Germline

Chr1:237042540

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008658

rs_779910353

6 SubmittersRCV000182770 RCV001184236 RCV001192694 RCV002415776 RCV002515331 RCV003996768

NM_001035.3(RYR2):c.37T>C (p.Phe13Leu)

SNV
Germline

Chr1:237042558

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009352

rs_794728761

4 SubmittersRCV000242738 RCV000551463 RCV002516887 RCV004791307

NM_001035.3(RYR2):c.184C>T (p.Leu62Phe)

SNV
Germline

Chr1:237330893

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008629

rs_794728813

6 SubmittersRCV000182857 RCV001177415 RCV003165394 RCV002517806 RCV003996790

NM_001035.3(RYR2):c.239A>G (p.Glu80Gly)

SNV
Germline

Chr1:237330948

Pathogenic

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA008831

rs_794728706

2 SubmittersRCV000477870 RCV002516866

NM_001035.3(RYR2):c.309+5G>T

SNV
Germline

Chr1:237364377

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA009078

rs_794728695

3 SubmittersRCV000182606 RCV002321720 RCV002517780

NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)

SNV
Germline

Chr1:237377386

Pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
RYR2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA009819

rs_794728708

8 SubmittersRCV000182659 RCV000208033 RCV001332696 RCV002345634 RCV005222807

NM_001035.3(RYR2):c.689G>A (p.Gly230Asp)

SNV
Germline

Chr1:237388099

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA010368

rs_794728710

2 SubmittersRCV000182662 RCV002517787

NM_001035.3(RYR2):c.796G>A (p.Ala266Thr)

SNV
Germline

Chr1:237417071

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA010816

rs_373326624

5 SubmittersRCV000182859 RCV001179067 RCV002516904 RCV003996791 RCV004020197

NM_001035.3(RYR2):c.818C>T (p.Ser273Phe)

SNV
Germline

Chr1:237417093

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA010869

rs_794728715

2 SubmittersRCV000182668 RCV002515319

NM_001035.3(RYR2):c.848+1G>A

SNV
Germline

Chr1:237417124

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA011045

rs_772984053

6 SubmittersRCV000182860 RCV000766706 RCV000999616 RCV003532035 RCV002517807

NM_001035.3(RYR2):c.1144G>A (p.Val382Met)

SNV
Germline

Chr1:237441457

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
not specified
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007019

rs_370057029

10 SubmittersRCV000182675 RCV000202980 RCV000777719 RCV002453657 RCV003993869 RCV003996741

NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)

SNV
Germline

Chr1:237445470

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007513

rs_764698152

9 SubmittersRCV000182678 RCV000251690 RCV001186513 RCV002516868 RCV004804792

NM_001035.3(RYR2):c.1250G>T (p.Arg417Leu)

SNV
Germline

Chr1:237445480

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007552

rs_751428303

3 SubmittersRCV000182679 RCV005089914 RCV002408797

NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)

SNV
Germline

Chr1:237445488

Pathogenic

Condition: not provided
Ventricular fibrillation
Catecholaminergic polymorphic ventricular tachycardia
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007622

rs_190140598

12 SubmittersRCV000182680 RCV000202619 RCV000219729 RCV000515377 RCV001194068 RCV002426877 RCV002470799

NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln)

SNV
Germline

Chr1:237445489

Pathogenic

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007630

rs_794728721

8 SubmittersRCV000182681 RCV000190228 RCV000617576 RCV002288789

NM_001035.3(RYR2):c.1319C>T (p.Ala440Val)

SNV
Germline

Chr1:237454417

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007828

rs_758904216

7 SubmittersRCV000182619 RCV000509223 RCV001186512 RCV002381594 RCV003996725

NM_001035.3(RYR2):c.1342C>G (p.Pro448Ala)

SNV
Germline

Chr1:237454440

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA007906

rs_369933531

2 SubmittersRCV000182682 RCV003765126

NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln)

SNV
Germline

Chr1:237454552

Conflicting classifications of pathogenicity

not specified
Ventricular tachycardia
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008294

rs_752144775

9 SubmittersRCV000182863 RCV000208338 RCV000777944 RCV002223808 RCV002390467 RCV002515340 RCV003996792

NM_001035.3(RYR2):c.1561G>A (p.Glu521Lys)

SNV
Germline

Chr1:237456684

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA008495

rs_759494098

4 SubmittersRCV000182684 RCV001189917 RCV002399658 RCV002516869

NM_001035.3(RYR2):c.1614G>A (p.Ala538=)

SNV
Germline

Chr1:237469093

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
not specified

Criteria Provided
Conflicting Classifications

CA008528

rs_566885717

5 SubmittersRCV000621292 RCV001179341 RCV002515321 RCV003996743 RCV005437977

NM_001035.3(RYR2):c.1641C>A (p.Asn547Lys)

SNV
Germline

Chr1:237469120

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA008535

rs_794728722

3 SubmittersRCV000182686 RCV002399659 RCV002516870

NM_001035.3(RYR2):c.1646C>T (p.Ala549Val)

SNV
Germline

Chr1:237469125

Likely pathogenic

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA008543

rs_794728817

1 SubmittersRCV001801232

NM_001035.3(RYR2):c.1675A>G (p.Ile559Val)

SNV
Germline

Chr1:237469154

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA008550

rs_773609522

4 SubmittersRCV000182687 RCV001804914 RCV002399660 RCV003765127

NM_001035.3(RYR2):c.2253T>G (p.Thr751=)

SNV
Germline

Chr1:237500760

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008732

rs_762905211

7 SubmittersRCV000182621 RCV001100450 RCV001102404 RCV001184503 RCV002444732 RCV003996726

NM_001035.3(RYR2):c.2574G>A (p.Thr858=)

SNV
Germline

Chr1:237503466

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008888

rs_367992907

13 SubmittersRCV000182624 RCV000404420 RCV000619882 RCV000769778 RCV001093754 RCV001172025 RCV003996727

NM_001035.3(RYR2):c.2629C>T (p.His877Tyr)

SNV
Germline

Chr1:237506725

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008904

rs_372575878

5 SubmittersRCV000182701 RCV000619081 RCV001189147 RCV002516875 RCV003996749

NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser)

SNV
Germline

Chr1:237530432

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA008963

rs_373665895

8 SubmittersRCV000182703 RCV001189148 RCV001797667 RCV002516876 RCV002433804 RCV003227702 RCV003996750

NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)

SNV
Germline

Chr1:237550628

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009097

rs_533330664

11 SubmittersRCV000182708 RCV000456036 RCV001191860 RCV002254283 RCV002321722 RCV002516878 RCV003996752

NM_001035.3(RYR2):c.3517A>G (p.Met1173Val)

SNV
Germline

Chr1:237569238

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA009247

rs_762372863

6 SubmittersRCV000182625 RCV001100668 RCV001100667 RCV001189913 RCV003996728 RCV005404352

NM_001035.3(RYR2):c.3950C>T (p.Thr1317Met)

SNV
Germline

Chr1:237590782

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA009414

rs_752107643

4 SubmittersRCV000182717 RCV002354480 RCV002500539 RCV002515324

NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val)

SNV
Germline

Chr1:237590926

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Criteria Provided
Conflicting Classifications

CA009452

rs_373261115

8 SubmittersRCV000182870 RCV000415707 RCV000777782 RCV001093762 RCV002321724 RCV003227703

NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala)

SNV
Germline

Chr1:237590928

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009456

rs_369982130

5 SubmittersRCV000182629 RCV001189914 RCV002321721 RCV002517783 RCV003996730

NM_001035.3(RYR2):c.4503C>A (p.Asn1501Lys)

SNV
Germline

Chr1:237595564

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA009547

rs_794728735

2 SubmittersRCV000182722 RCV003765128

NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)

SNV
Germline

Chr1:237602080

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA009626

rs_185237690

10 SubmittersRCV000490424 RCV000619293 RCV000776180 RCV001100767 RCV001704872 RCV003235105

NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala)

SNV
Germline

Chr1:237610771

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
not specified

Criteria Provided
Conflicting Classifications

CA009653

rs_778783933

4 SubmittersRCV000986578 RCV001188477 RCV002222429

NM_001035.3(RYR2):c.4780G>A (p.Val1594Ile)

SNV
Germline

Chr1:237610858

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA009693

rs_794728737

3 SubmittersRCV000182727 RCV000778053 RCV003105815

NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys)

SNV
Germline

Chr1:237614298

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA009802

rs_794728740

4 SubmittersRCV000182731 RCV002336457 RCV002515328 RCV003318367

NM_001035.3(RYR2):c.5373C>A (p.Thr1791=)

SNV
Germline

Chr1:237614501

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009837

rs_765283048

6 SubmittersRCV000182632 RCV000406951 RCV000777693 RCV001093820 RCV002345633 RCV003996731

NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)

SNV
Germline

Chr1:237614716

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA009896

rs_770863319

10 SubmittersRCV000182732 RCV000618427 RCV000724909 RCV001187136 RCV002516881 RCV003996760

NM_001035.3(RYR2):c.5821C>A (p.Arg1941Ser)

SNV
Germline

Chr1:237617391

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA010038

rs_754811291

5 SubmittersRCV000182737 RCV001189921 RCV001193371 RCV002516883 RCV004804794

NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile)

SNV
Germline

Chr1:237631518

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA010204

rs_794728821

3 SubmittersRCV000182874 RCV001253231 RCV005089919

NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile)

SNV
Germline

Chr1:237638480

Pathogenic/Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA010384

rs_794728746

2 SubmittersRCV001781540 RCV002516910

NM_001035.3(RYR2):c.6940G>A (p.Glu2314Lys)

SNV
Germline

Chr1:237639026

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA010419

rs_794728748

2 SubmittersRCV000182750 RCV005089915

NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr)

SNV
Germline

Chr1:237640940

Pathogenic/Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA010573

rs_794728753

5 SubmittersRCV000182757 RCV000217048 RCV002517795 RCV002362937

NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)

SNV
Germline

Chr1:237640941

Pathogenic/Likely pathogenic

Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA010582

rs_794728754

5 SubmittersRCV000182758 RCV001535748 RCV002272163 RCV002372117

NM_001035.3(RYR2):c.7202G>A (p.Arg2401His)

SNV
Germline

Chr1:237640983

Pathogenic/Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA010625

rs_794728756

6 SubmittersRCV000182760 RCV000208074 RCV000247473

NM_001035.3(RYR2):c.7202G>T (p.Arg2401Leu)

SNV
Germline

Chr1:237640983

Pathogenic/Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA010635

rs_794728756

2 SubmittersRCV000182761 RCV002516885

NM_001035.3(RYR2):c.7542G>A (p.Leu2514=)

SNV
Germline

Chr1:237649906

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA010733

rs_371088367

8 SubmittersRCV000182635 RCV000252731 RCV000343987 RCV000777732 RCV001093830 RCV003884379 RCV003996733 RCV004537529

NM_001035.3(RYR2):c.8205C>A (p.Asp2735Glu)

SNV
Germline

Chr1:237658019

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA010879

rs_794728823

5 SubmittersRCV000182878 RCV001175682 RCV002408798 RCV002516911 RCV004804798

NM_001035.3(RYR2):c.8262G>C (p.Gln2754His)

SNV
Germline

Chr1:237660038

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA010917

rs_773748242

6 SubmittersRCV000182880 RCV001175683 RCV001337100 RCV002426879 RCV002515342 RCV003996798

NM_001035.3(RYR2):c.8378G>A (p.Arg2793Gln)

SNV
Germline

Chr1:237660889

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA010968

rs_559773178

7 SubmittersRCV000182881 RCV001190681 RCV002433806 RCV002516912 RCV003996799 RCV004539706

NM_001035.3(RYR2):c.8408G>A (p.Arg2803Gln)

SNV
Germline

Chr1:237660919

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA010985

rs_780643623

5 SubmittersRCV000182768 RCV001170262 RCV002515330 RCV003996767

NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val)

SNV
Germline

Chr1:237698982

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA011117

rs_370141970

5 SubmittersRCV000182773 RCV000314238 RCV000393089 RCV001192120 RCV002517797 RCV003165392

NM_001035.3(RYR2):c.9518C>T (p.Thr3173Ile)

SNV
Germline

Chr1:237705281

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA011222

rs_746161154

5 SubmittersRCV000182778 RCV000621590 RCV000778054 RCV002516890 RCV003996770

NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)

SNV
Germline

Chr1:237707023

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA011287

rs_371147744

11 SubmittersRCV000216905 RCV000590419 RCV000768781 RCV001099559 RCV001099558 RCV002372115 RCV003996735

NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp)

SNV
Germline

Chr1:237707188

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA011317

rs_751551400

3 SubmittersRCV000768783 RCV002515332

NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr)

SNV
Germline

Chr1:237718490

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA006660

rs_115622575

7 SubmittersRCV000182785 RCV001179064 RCV001727620 RCV002516891 RCV002390462 RCV003996773

NM_001035.3(RYR2):c.10529G>A (p.Arg3510His)

SNV
Germline

Chr1:237718496

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006684

rs_375947003

5 SubmittersRCV000182787 RCV001188653 RCV002516892 RCV003996775 RCV003298235

NM_001035.3(RYR2):c.11476+10A>C

SNV
Germline

Chr1:237761038

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA007034

rs_794728702

3 SubmittersRCV000182643 RCV003150056 RCV002516862

NM_001035.3(RYR2):c.11588G>A (p.Gly3863Asp)

SNV
Germline

Chr1:237772042

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA007088

rs_794728775

2 SubmittersRCV000182798 RCV002516895

NM_001035.3(RYR2):c.11812A>C (p.Ser3938Arg)

SNV
Germline

Chr1:237778702

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA007163

rs_794728825

2 SubmittersRCV000182886 RCV002516914

NM_001035.3(RYR2):c.11814C>A (p.Ser3938Arg)

SNV
Germline

Chr1:237778704

Pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007170

rs_794728704

2 SubmittersRCV000182651 RCV002517785

NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser)

SNV
Germline

Chr1:237778726

Pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007186

rs_794728777

3 SubmittersRCV000182800 RCV002516896

NM_001035.3(RYR2):c.11965A>G (p.Asn3989Asp)

SNV
Germline

Chr1:237783677

Pathogenic/Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007278

rs_794728779

2 SubmittersRCV000182804 RCV002515334

NM_001035.3(RYR2):c.12239A>G (p.Tyr4080Cys)

SNV
Germline

Chr1:237783951

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007383

rs_794728781

3 SubmittersRCV000182809 RCV003114334 RCV003996781

NM_001035.3(RYR2):c.12268C>T (p.Pro4090Ser)

SNV
Germline

Chr1:237783980

Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007392

rs_794728782

2 SubmittersRCV000182810 RCV002516898

NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val)

SNV
Germline

Chr1:237783984

Pathogenic

Long QT syndrome
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007418

rs_794728783

3 SubmittersRCV000190127 RCV002279938 RCV002515335

NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser)

SNV
Germline

Chr1:237783995

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007426

rs_753850982

5 SubmittersRCV000182812 RCV002517799 RCV003165393 RCV003532034 RCV003996782

NM_001035.3(RYR2):c.12301C>T (p.Leu4101Phe)

SNV
Germline

Chr1:237784013

Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA007454

rs_794728785

3 SubmittersRCV000182815 RCV001332695 RCV004984725

NM_001035.3(RYR2):c.12372C>A (p.Ser4124Arg)

SNV
Germline

Chr1:237784084

Pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007482

rs_771994461

2 SubmittersRCV000182816 RCV002517801

NM_001035.3(RYR2):c.12427A>C (p.Lys4143Gln)

SNV
Germline

Chr1:237784139

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007522

rs_750908017

4 SubmittersRCV000182818 RCV001179066 RCV003638638 RCV003996784

NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln)

SNV
Germline

Chr1:237784182

Pathogenic/Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007532

rs_794728786

2 SubmittersRCV000182819 RCV002516899

NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)

SNV
Germline

Chr1:237784204

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007543

rs_377293019

7 SubmittersRCV000182645 RCV000620224 RCV000771837 RCV001099829 RCV001099830 RCV003996736

NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser)

SNV
Germline

Chr1:237784245

Pathogenic/Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA007573

rs_794728787

4 SubmittersRCV000182820 RCV001248790 RCV002415777

NM_001035.3(RYR2):c.12545A>C (p.Glu4182Ala)

SNV
Germline

Chr1:237784257

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA007588

rs_794728788

3 SubmittersRCV000182822 RCV001798635 RCV002516900

NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val)

SNV
Germline

Chr1:237784320

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007648

rs_794728792

4 SubmittersRCV002470800 RCV003137706

NM_001035.3(RYR2):c.12826G>A (p.Val4276Met)

SNV
Germline

Chr1:237784538

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA007704

rs_368599791

4 SubmittersRCV000182646 RCV001189915 RCV002381595 RCV002516863

NM_001035.3(RYR2):c.12858C>T (p.Ser4286=)

SNV
Germline

Chr1:237784570

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA007721

rs_185482345

7 SubmittersRCV000182647 RCV000589602 RCV000778051 RCV001099836 RCV001099835 RCV004658979 RCV003996737

NM_001035.3(RYR2):c.12917T>C (p.Phe4306Ser)

SNV
Germline

Chr1:237784629

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA007740

rs_776091285

4 SubmittersRCV000182648 RCV001180306 RCV002381596 RCV002516864

NM_001035.3(RYR2):c.13735C>T (p.His4579Tyr)

SNV
Germline

Chr1:237792276

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA008032

rs_794728830

2 SubmittersRCV000182893 RCV004593998

NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp)

SNV
Germline

Chr1:237793906

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA008063

rs_794728799

5 SubmittersRCV000182840 RCV001197267 RCV002381599

NM_001035.3(RYR2):c.14278G>A (p.Val4760Ile)

SNV
Germline

Chr1:237806263

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA008199

rs_794728831

2 SubmittersRCV000182894 RCV002516915

NM_001035.3(RYR2):c.14288A>G (p.Asn4763Ser)

SNV
Germline

Chr1:237806273

Pathogenic/Likely pathogenic

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008206

rs_794728803

4 SubmittersRCV000182844 RCV001798636 RCV002517804

NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile)

SNV
Germline

Chr1:237808913

Pathogenic

Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008220

rs_794728804

4 SubmittersRCV000182845 RCV002390463 RCV002517805

NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg)

SNV
Germline

Chr1:237832588

Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008433

rs_794728810

2 SubmittersRCV000182852 RCV002515339

NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)

SNV
Germline

Chr1:237832619

Pathogenic/Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA008450

rs_794728811

12 SubmittersRCV000182854 RCV000445354 RCV002390465

NM_001035.3(RYR2):c.14884T>A (p.Tyr4962Asn)

SNV
Germline

Chr1:237832627

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Criteria Provided
Conflicting Classifications

CA008458

rs_748937501

7 SubmittersRCV000182855 RCV001177416 RCV002390466 RCV003153463 RCV003996789 RCV005361089

NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys)

SNV
Germline

Chr1:237832628

Pathogenic/Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA008466

rs_794728832

3 SubmittersRCV000182895 RCV002517808 RCV005480332

NM_001035.3(RYR2):c.11197G>A (p.Asp3733Asn)

SNV
Germline

Chr1:237756339

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA084805

rs_760307737

3 SubmittersRCV002515530 RCV003532051 RCV004020543

NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln)

SNV
Germline

Chr1:237614791

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Primary familial hypertrophic cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA351717

rs_869025511

5 SubmittersRCV000375573 RCV000208027 RCV002298528 RCV000320906 RCV002347815

NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val)

SNV
Germline

Chr1:237655873

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA351927

rs_869025513

5 SubmittersRCV000208294 RCV005243159 RCV002517404 RCV003997690

NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)

SNV
Germline

Chr1:237784549

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Criteria Provided
Conflicting Classifications

CA085245

rs_750117613

5 SubmittersRCV000208489 RCV001194102 RCV002381717 RCV002515553 RCV002494544

NM_004415.4(DSP):c.2597G>A (p.Arg866His)

SNV
Germline

Chr6:7575455

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA034081

rs_764965132

4 SubmittersRCV000208025 RCV001228122 RCV003437008 RCV002426975

NM_001232.4(CASQ2):c.940-1G>T

SNV
Germline

Chr1:115702996

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10576356

rs_876657635

4 SubmittersRCV000222785 RCV002503848 RCV002517522 RCV003343709

NM_001232.4(CASQ2):c.1134T>A (p.Asp378Glu)

SNV
Germline

Chr1:115701307

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA1023611

rs_150486780

2 SubmittersRCV000219232 RCV002517467

NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser)

SNV
Germline

Chr1:115705257

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA1023708

rs_200643387

5 SubmittersRCV000213801 RCV001093808 RCV002517534 RCV002372226 RCV003318370

NM_001035.3(RYR2):c.5774T>C (p.Ile1925Thr)

SNV
Germline

Chr1:237617344

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA074388

rs_761505396

8 SubmittersRCV000214458 RCV001190428 RCV001753649 RCV001293045 RCV003997752 RCV002354611 RCV002518197

NM_001035.3(RYR2):c.7287G>A (p.Leu2429=)

SNV
Germline

Chr1:237643392

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA10576406

rs_876657578

4 SubmittersRCV000215902 RCV002517503 RCV003372655 RCV003997720

NM_001035.3(RYR2):c.9129-10T>A

SNV
Germline

Chr1:237700219

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA10576408

rs_876657993

4 SubmittersRCV000219044 RCV003638644 RCV003997754

NM_001035.3(RYR2):c.8913T>C (p.Ile2971=)

SNV
Germline

Chr1:237680473

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA087786

rs_755520825

10 SubmittersRCV000219778 RCV000393090 RCV000777731 RCV001093833 RCV000845308 RCV003997723 RCV004530315 RCV002372220

NM_001035.3(RYR2):c.9442G>A (p.Val3148Met)

SNV
Germline

Chr1:237702052

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA10576409

rs_876657994

9 SubmittersRCV000223326 RCV000771970 RCV003997755 RCV001249323 RCV001762465 RCV002444864 RCV002485398 RCV004739606

NM_001035.3(RYR2):c.9736A>G (p.Met3246Val)

SNV
Germline

Chr1:237707104

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087949

rs_745839689

5 SubmittersRCV000219918 RCV001186886 RCV002372231 RCV002518200 RCV003997756

NM_001035.3(RYR2):c.11040-3C>T

SNV
Germline

Chr1:237733702

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA10576411

rs_876657984

5 SubmittersRCV000222809 RCV001097952 RCV001097953 RCV001182284 RCV003997747

NM_001035.3(RYR2):c.13326C>T (p.Ala4442=)

SNV
Germline

Chr1:237786034

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA085335

rs_768161152

6 SubmittersRCV000213991 RCV000619737 RCV000769811 RCV002517497 RCV001312135

NM_001035.3(RYR2):c.13329-3T>C

SNV
Germline

Chr1:237787985

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA085350

rs_542440592

4 SubmittersRCV000222428 RCV000771969 RCV003153492

NM_001035.3(RYR2):c.13329-11T>G

SNV
Germline

Chr1:237787977

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085346

rs_778172821

6 SubmittersRCV000220720 RCV001187343 RCV002518192 RCV003997748

NM_001035.3(RYR2):c.13593G>A (p.Lys4531=)

SNV
Germline

Chr1:237792134

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA10576413

rs_548313130

9 SubmittersRCV000221328 RCV000263558 RCV001170491 RCV001706238 RCV002381735 RCV001093790 RCV003997716

NM_006073.4(TRDN):c.1472-12G>A

SNV
Germline

Chr6:123316507

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA3983928

rs_375364108

3 SubmittersRCV000218470 RCV001722169 RCV002518216

NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg)

SNV
Germline

Chr6:123352541

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 5
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA3983985

rs_200243235

10 SubmittersRCV000214726 RCV000766958 RCV003327383 RCV000620191 RCV002518213

NM_006073.4(TRDN):c.1193A>T (p.Glu398Val)

SNV
Germline

Chr6:123377892

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 5

Criteria Provided
Conflicting Classifications

CA3984078

rs_374355537

6 SubmittersRCV000223286 RCV001565966 RCV002518215 RCV002347847 RCV002500718

NM_001035.3(RYR2):c.10125A>G (p.Arg3375=)

SNV
Germline

Chr1:237709081

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084147

rs_764396074

6 SubmittersRCV000223696 RCV002338698 RCV001561191 RCV002516213 RCV003532062 RCV003998653

NM_001035.3(RYR2):c.13763T>C (p.Ile4588Thr)

SNV
Germline

Chr1:237792304

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10581135

rs_876661386

3 SubmittersRCV000223875 RCV002516214 RCV002378958

NM_001232.4(CASQ2):c.1015-3C>T

SNV
Germline

Chr1:115701429

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA1023634

rs_375320117

3 SubmittersRCV000429556 RCV002327123 RCV002518326

NM_001035.3(RYR2):c.6726G>A (p.Val2242=)

SNV
Germline

Chr1:237634926

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA087187

rs_767246962

5 SubmittersRCV000231760 RCV002365180 RCV001185255 RCV001416062 RCV005208746

NM_006073.4(TRDN):c.2131C>T (p.Arg711Cys)

SNV
Germline

Chr6:123218660

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 5

Criteria Provided
Conflicting Classifications

CA3983590

rs_373408498

4 SubmittersRCV001658061 RCV002418016 RCV002519797 RCV005230154

NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys)

SNV
Germline

Chr6:123273009

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 5
not specified

Criteria Provided
Conflicting Classifications

CA3983825

rs_9398723

5 SubmittersRCV002401893 RCV002516325 RCV003327386 RCV002500791 RCV005404424

NM_001035.3(RYR2):c.9688C>A (p.Gln3230Lys)

SNV
Germline

Chr1:237707056

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA10586347

rs_886037908

1 SubmittersRCV000240630

NM_001035.3(RYR2):c.13737C>A (p.His4579Gln)

SNV
Germline

Chr1:237792278

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA10586348

rs_886037907

1 SubmittersRCV000240650

NM_001035.3(RYR2):c.4489G>A (p.Gly1497Arg)

SNV
Germline

Chr1:237595550

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086627

rs_748678280

4 SubmittersRCV000244491 RCV001189409 RCV002518685 RCV003999018

NM_001035.3(RYR2):c.7443A>G (p.Gln2481=)

SNV
Germline

Chr1:237648544

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087390

rs_759314800

5 SubmittersRCV000249314 RCV000769794 RCV002518696 RCV004804974

NM_001035.3(RYR2):c.10035G>A (p.Arg3345=)

SNV
Germline

Chr1:237708991

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
RYR2-related disorder
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084095

rs_754976419

8 SubmittersRCV000253028 RCV001096093 RCV000427858 RCV001096092 RCV001179774 RCV004542953 RCV003995719

NM_001035.3(RYR2):c.10700G>A (p.Arg3567His)

SNV
Germline

Chr1:237726283

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084472

rs_577371071

5 SubmittersRCV000243114 RCV000519072 RCV001180374 RCV002518712 RCV003995711

NM_001035.3(RYR2):c.14220C>T (p.Ala4740=)

SNV
Germline

Chr1:237806205

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085611

rs_368971586

6 SubmittersRCV000253045 RCV001096511 RCV001096512 RCV001525672 RCV001705400 RCV003995733

NM_001035.3(RYR2):c.12627G>A (p.Ser4209=)

SNV
Germline

Chr1:237784339

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085204

rs_3753631

5 SubmittersRCV000247128 RCV001182015 RCV001099831 RCV001099832 RCV003999002

NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp)

SNV
Germline

Chr1:237830585

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA10587436

rs_886038888

3 SubmittersRCV000243171 RCV000449578 RCV003387518

NM_006073.4(TRDN):c.1282C>G (p.Arg428Gly)

SNV
Germline

Chr6:123366174

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 5
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA3984018

rs_202219343

2 SubmittersRCV000252200 RCV002487155

NM_006073.4(TRDN):c.911C>T (p.Pro304Leu)

SNV
Germline

Chr6:123464926

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA3984226

rs_750105528

2 SubmittersRCV000245220 RCV002518718

NM_001035.3(RYR2):c.4069G>A (p.Asp1357Asn)

SNV
Germline

Chr1:237590901

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 9
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA086527

rs_193922626

5 SubmittersRCV000490834 RCV001177409 RCV004984772 RCV003995747 RCV005090303

NM_001035.3(RYR2):c.8831-9A>C

SNV
Germline

Chr1:237678039

Conflicting classifications of pathogenicity

not specified
6 conditions
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA087746

rs_187977513

9 SubmittersRCV000338645 RCV000626732 RCV000771267 RCV000725128 RCV003995760 RCV002518860

NM_001035.3(RYR2):c.1527C>T (p.Ser509=)

SNV
Germline

Chr1:237456650

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA10604409

rs_886042568

4 SubmittersRCV000372322 RCV000620340 RCV001183041 RCV005208749

NM_001035.3(RYR2):c.13665C>T (p.Ile4555=)

SNV
Germline

Chr1:237792206

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA085430

rs_375213838

7 SubmittersRCV000372481 RCV000388524 RCV001093792 RCV001181804 RCV003995768 RCV002379122

NM_001035.3(RYR2):c.9295G>C (p.Val3099Leu)

SNV
Germline

Chr1:237700395

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087855

rs_745616771

7 SubmittersRCV000392155 RCV000781829 RCV001525717 RCV002374463 RCV002519159 RCV003995773

NM_001035.3(RYR2):c.41T>C (p.Leu14Pro)

SNV
Germline

Chr1:237042562

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA10606020

rs_886043844

2 SubmittersRCV000296459 RCV003103988

NM_001232.4(CASQ2):c.846C>T (p.Tyr282=)

SNV
Germline

Chr1:115705285

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA1023716

rs_764692110

2 SubmittersRCV000357608 RCV003638646

NM_001232.4(CASQ2):c.855G>C (p.Leu285=)

SNV
Germline

Chr1:115705276

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 2
not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1023714

rs_148562107

6 SubmittersRCV000302756 RCV005418062 RCV002411179 RCV002519374 RCV001705439

NM_001035.3(RYR2):c.1404G>A (p.Glu468=)

SNV
Germline

Chr1:237454502

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA085551

rs_768538183

5 SubmittersRCV000328522 RCV001093800 RCV001188880 RCV003995808 RCV005480351

NM_001035.3(RYR2):c.1612+10A>G

SNV
Germline

Chr1:237456745

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA10609549

rs_886046262

2 SubmittersRCV000282403 RCV000374594

NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=)

SNV
Germline

Chr1:237550582

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086309

rs_747358776

4 SubmittersRCV000266767 RCV000321920 RCV002321973 RCV003995812

NM_001035.3(RYR2):c.3898A>C (p.Met1300Leu)

SNV
Germline

Chr1:237590730

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA086494

rs_769384124

4 SubmittersRCV000347945 RCV000405952 RCV001178096 RCV005090428

NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)

SNV
Germline

Chr1:237590876

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Cardiomyopathy
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA086525

rs_755391572

9 SubmittersRCV000308159 RCV000617753 RCV000777776 RCV000605932 RCV001093870 RCV001532584 RCV003995814 RCV004739669

NM_001035.3(RYR2):c.8493T>C (p.Val2831=)

SNV
Germline

Chr1:237666568

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA087653

rs_755660659

6 SubmittersRCV000276193 RCV000333568 RCV001179330 RCV001431862 RCV002446541 RCV005418064

NM_001035.3(RYR2):c.8515-7A>G

SNV
Germline

Chr1:237667876

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
not specified

Criteria Provided
Conflicting Classifications

CA087670

rs_766622060

5 SubmittersRCV000327567 RCV000384491 RCV001187867 RCV003995819 RCV003330632

NM_001035.3(RYR2):c.9755A>G (p.His3252Arg)

SNV
Germline

Chr1:237707123

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA087952

rs_760379293

7 SubmittersRCV000336208 RCV000388355 RCV001178094 RCV003995821 RCV003362750 RCV003226918 RCV005407032

NM_001035.3(RYR2):c.9927A>G (p.Lys3309=)

SNV
Germline

Chr1:237708883

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
not specified
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA087982

rs_184937795

6 SubmittersRCV000347849 RCV000404124 RCV001180286 RCV003330633 RCV004804984 RCV002379162

NM_001035.3(RYR2):c.10008G>A (p.Glu3336=)

SNV
Germline

Chr1:237708964

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA084084

rs_753175584

5 SubmittersRCV000264362 RCV001093890 RCV001805006 RCV003995823 RCV005268587

NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)

SNV
Germline

Chr1:237732072

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
not specified
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084638

rs_547005691

7 SubmittersRCV000298794 RCV001093733 RCV001582919 RCV001188871 RCV001764262 RCV002450844 RCV003995825

NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu)

SNV
Germline

Chr1:237783795

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Arrhythmogenic right ventricular cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA085122

rs_779666612

4 SubmittersRCV000316066 RCV002522123 RCV002348036 RCV000375356 RCV001509128

NM_001035.3(RYR2):c.-63G>T

SNV
Germline

Chr1:237042459

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA10609770

rs_578020342

2 SubmittersRCV000264698 RCV001668650 RCV000375824

NM_001035.3(RYR2):c.849-10T>C

SNV
Germline

Chr1:237423082

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA087648

rs_771173251

3 SubmittersRCV000291767 RCV001093908 RCV001525478

NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser)

SNV
Germline

Chr1:237566752

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA10609773

rs_886046265

6 SubmittersRCV000336721 RCV000372653 RCV001178100 RCV002450843 RCV002504044 RCV004804983

NM_001035.3(RYR2):c.9067+10C>T

SNV
Germline

Chr1:237687514

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
not specified
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA087820

rs_372631657

8 SubmittersRCV000282361 RCV000335017 RCV001528938 RCV001175583 RCV001798778

NM_001035.3(RYR2):c.11039+7T>C

SNV
Germline

Chr1:237732156

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA084671

rs_569571855

2 SubmittersRCV000277793 RCV000370045 RCV002520479

NM_001035.3(RYR2):c.11766G>A (p.Glu3922=)

SNV
Germline

Chr1:237773639

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085044

rs_774625105

10 SubmittersRCV000337602 RCV000621893 RCV001000975 RCV001093897 RCV001179551 RCV001553008 RCV003995828

NM_001035.3(RYR2):c.13957-5C>G

SNV
Germline

Chr1:237798032

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA085537

rs_189772599

6 SubmittersRCV000297957 RCV000391467 RCV005404485 RCV002520480 RCV002392830

NM_001035.3(RYR2):c.14808+12A>C

SNV
Germline

Chr1:237831577

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA10609817

rs_886046281

2 SubmittersRCV000280510 RCV000349479

NM_001035.3(RYR2):c.577-14G>A

SNV
Germline

Chr1:237387267

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA086965

rs_148019277

7 SubmittersRCV000312964 RCV000351465 RCV000439987 RCV001178366 RCV003995803 RCV001699290

NM_001035.3(RYR2):c.828A>G (p.Arg276=)

SNV
Germline

Chr1:237417103

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
not specified
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA087597

rs_180711819

9 SubmittersRCV000361184 RCV000432303 RCV000621348 RCV000768757 RCV001093847 RCV001718598 RCV003995805 RCV004543169

NM_001035.3(RYR2):c.2772G>A (p.Leu924=)

SNV
Germline

Chr1:237511741

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
RYR2-related disorder
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086195

rs_780664060

11 SubmittersRCV000310234 RCV000617646 RCV000418654 RCV001093810 RCV001191830 RCV004739668 RCV001723881 RCV003995811

NM_001035.3(RYR2):c.5220T>G (p.Pro1740=)

SNV
Germline

Chr1:237614348

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA10610619

rs_886046269

2 SubmittersRCV000282078 RCV000376490

NM_001035.3(RYR2):c.9601G>A (p.Val3201Met)

SNV
Germline

Chr1:237706969

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA087934

rs_762549821

6 SubmittersRCV000324884 RCV000377072 RCV001192119 RCV001195553 RCV002379161

NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met)

SNV
Germline

Chr1:237708951

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087992

rs_774437805

5 SubmittersRCV000361343 RCV001093889 RCV001187921 RCV002379163 RCV003995822

NM_001035.3(RYR2):c.13482T>C (p.Tyr4494=)

SNV
Germline

Chr1:237791434

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA10610628

rs_886046279

3 SubmittersRCV000298647 RCV002379164 RCV000353478

NM_001035.3(RYR2):c.13718G>A (p.Arg4573His)

SNV
Germline

Chr1:237792259

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085440

rs_371157286

8 SubmittersRCV000344574 RCV001093841 RCV001177067 RCV001590913 RCV002502178 RCV002379165 RCV003995832

NM_001035.3(RYR2):c.*711C>G

SNV
Germline

Chr1:237833358

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10610667

rs_544493822

2 SubmittersRCV000284444 RCV000376366 RCV002510838

NM_001035.3(RYR2):c.*1108A>G

SNV
Germline

Chr1:237833755

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA10610682

rs_540171235

1 SubmittersRCV000345410 RCV000399388

NM_001035.3(RYR2):c.837G>A (p.Thr279=)

SNV
Germline

Chr1:237417112

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
not specified

Criteria Provided
Conflicting Classifications

CA087614

rs_769682840

5 SubmittersRCV000326370 RCV000383327 RCV001178101 RCV003995806 RCV005404483

NM_001035.3(RYR2):c.1006-12C>T

SNV
Germline

Chr1:237441307

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
not specified
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084121

rs_367998175

9 SubmittersRCV000280870 RCV000338236 RCV000777686 RCV001651346 RCV001699344 RCV003995807

NM_001035.3(RYR2):c.1444C>T (p.Leu482=)

SNV
Germline

Chr1:237454542

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA085665

rs_117903753

2 SubmittersRCV000274601 RCV000366756

NM_001035.3(RYR2):c.5763G>A (p.Arg1921=)

SNV
Germline

Chr1:237617333

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10610719

rs_886046270

5 SubmittersRCV000281373 RCV001093771 RCV001711777 RCV005402902 RCV002356406

NM_001035.3(RYR2):c.7599T>C (p.Pro2533=)

SNV
Germline

Chr1:237649963

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10610728

rs_886046274

5 SubmittersRCV000285379 RCV000342737 RCV001525493 RCV003995818 RCV002392828

NM_001035.3(RYR2):c.9435T>C (p.Ser3145=)

SNV
Germline

Chr1:237702045

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087892

rs_774657844

6 SubmittersRCV000307391 RCV000424468 RCV001093727 RCV001180601 RCV002446542 RCV003995820

NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln)

SNV
Germline

Chr1:237718484

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084368

rs_748805290

9 SubmittersRCV000305852 RCV000391540 RCV001183237 RCV001256775 RCV002392829 RCV003995824

NM_001035.3(RYR2):c.11146-6G>A

SNV
Germline

Chr1:237756282

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA10610736

rs_886046277

4 SubmittersRCV000272050 RCV000329474 RCV001178092 RCV003995827

NM_001035.3(RYR2):c.11557+14C>T

SNV
Germline

Chr1:237770901

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
not specified

Criteria Provided
Conflicting Classifications

CA065703

rs_374155447

5 SubmittersRCV000321372 RCV005230232 RCV000380613 RCV000419639

NM_001035.3(RYR2):c.11557+15G>A

SNV
Germline

Chr1:237770902

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
not specified

Criteria Provided
Conflicting Classifications

CA084994

rs_761490797

3 SubmittersRCV000286175 RCV000336517 RCV001255471

NM_001035.3(RYR2):c.12027C>T (p.Asn4009=)

SNV
Germline

Chr1:237783739

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA085112

rs_763374929

9 SubmittersRCV000264286 RCV000433519 RCV001093737 RCV000727442 RCV001178371 RCV002348035 RCV003995829 RCV004537660

NM_001035.3(RYR2):c.12315C>T (p.Leu4105=)

SNV
Germline

Chr1:237784027

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
not specified

Criteria Provided
Conflicting Classifications

CA066382

rs_184625125

6 SubmittersRCV000296211 RCV000398770 RCV001180285 RCV002365341 RCV003995830 RCV003330634

NM_001035.3(RYR2):c.12333C>T (p.Asn4111=)

SNV
Germline

Chr1:237784045

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia
Arrhythmogenic right ventricular cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA085170

rs_748716535

6 SubmittersRCV000351004 RCV000407743 RCV001256000 RCV003532081 RCV005480352

NM_001035.3(RYR2):c.*509A>G

SNV
Germline

Chr1:237833156

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10610761

rs_565288028

2 SubmittersRCV000289309 RCV000381395 RCV003417954

NM_006073.4(TRDN):c.727A>G (p.Thr243Ala)

SNV
Germline

Chr6:123503785

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 5
Catecholaminergic polymorphic ventricular tachycardia 5
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3984303

rs_376208769

5 SubmittersRCV002467765 RCV002487556 RCV002379245 RCV002524465 RCV003105882

NM_006073.4(TRDN):c.932-6C>A

SNV
Germline

Chr6:123439009

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA10625829

rs_886061033

2 SubmittersRCV000400104 RCV005090579

NM_001035.3(RYR2):c.463+9C>T

SNV
Germline

Chr1:237374804

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA086671

rs_559545973

5 SubmittersRCV000436307 RCV002521672 RCV001798809

NM_001035.3(RYR2):c.3361G>C (p.Gly1121Arg)

SNV
Germline

Chr1:237566713

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086357

rs_199682282

6 SubmittersRCV000431787 RCV001182765 RCV002323667 RCV003103760 RCV004000595

NM_001035.3(RYR2):c.8696A>G (p.Asn2899Ser)

SNV
Germline

Chr1:237674201

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA16603571

rs_1057524444

4 SubmittersRCV000440473 RCV001184552 RCV004000574 RCV003638665

NM_001035.3(RYR2):c.10551C>A (p.Gly3517=)

SNV
Germline

Chr1:237718518

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA084382

rs_768797598

3 SubmittersRCV000420297 RCV001101641 RCV001101642

NM_001035.3(RYR2):c.11402+6G>A

SNV
Germline

Chr1:237759858

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084942

rs_374183234

4 SubmittersRCV000420399 RCV001191559 RCV003638650 RCV003995982

NM_001035.3(RYR2):c.14136C>A (p.Val4712=)

SNV
Germline

Chr1:237801901

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA16603581

rs_756435572

5 SubmittersRCV000440478 RCV002393015 RCV001184553 RCV002525425 RCV004000462

NM_001035.3(RYR2):c.2203+4C>T

SNV
Germline

Chr1:237496756

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085979

rs_371445192

5 SubmittersRCV001179846 RCV001703697 RCV002519541 RCV004984876 RCV004000365

NM_001035.3(RYR2):c.3423+6T>G

SNV
Germline

Chr1:237566781

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16603607

rs_1057521957

3 SubmittersRCV000768759 RCV002521685 RCV001720212

NM_001035.3(RYR2):c.10257C>T (p.Phe3419=)

SNV
Germline

Chr1:237711771

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084261

rs_748715725

5 SubmittersRCV000420098 RCV001191142 RCV002522353 RCV003168673 RCV004000465

NM_001035.3(RYR2):c.3729A>C (p.Thr1243=)

SNV
Germline

Chr1:237589923

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA086436

rs_536080941

7 SubmittersRCV000419994 RCV001178358 RCV001100936 RCV001100935 RCV004567904 RCV003995980 RCV002348152

NM_001035.3(RYR2):c.6504C>G (p.His2168Gln)

SNV
Germline

Chr1:237631490

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA16603634

rs_760237464

2 SubmittersRCV000430239 RCV002519524

NM_001035.3(RYR2):c.2808G>A (p.Ser936=)

SNV
Germline

Chr1:237511777

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA16603638

rs_1057521205

6 SubmittersRCV000417432 RCV001098741 RCV001098740 RCV001187663 RCV004984872 RCV004000350

NM_001035.3(RYR2):c.7158C>T (p.Asn2386=)

SNV
Germline

Chr1:237640939

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087311

rs_376057173

7 SubmittersRCV000428607 RCV001097471 RCV001097470 RCV002365524 RCV001183033 RCV004000429

NM_001035.3(RYR2):c.9318T>A (p.Ser3106=)

SNV
Germline

Chr1:237700418

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA087858

rs_2797436

10 SubmittersRCV000427003 RCV001101440 RCV002374639 RCV001101439 RCV001179773 RCV001712361 RCV003996011 RCV004530556

NM_001035.3(RYR2):c.14756+3G>A

SNV
Germline

Chr1:237830633

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16603660

rs_1057523295

4 SubmittersRCV000428148 RCV001524786 RCV005055986 RCV003372711

NM_001232.4(CASQ2):c.235-2A>G

SNV
Germline

Chr1:115744914

Likely pathogenic

Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16609862

rs_1060502164

4 SubmittersRCV000618299 RCV001546335 RCV003338598 RCV003103779

NM_001035.3(RYR2):c.1022G>C (p.Gly341Ala)

SNV
Germline

Chr1:237441335

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA063289

rs_565413020

6 SubmittersRCV001000598 RCV001184003 RCV002446853 RCV002525633 RCV004002014

NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)

SNV
Germline

Chr1:237614422

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
RYR2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA086866

rs_564806219

13 SubmittersRCV000756606 RCV001099048 RCV000620181 RCV000769785 RCV000852597 RCV001099049 RCV004539926 RCV005056009

NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala)

SNV
Germline

Chr1:237627986

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA087095

rs_780707255

4 SubmittersRCV001170256 RCV002365589 RCV002522784

NM_001035.3(RYR2):c.230C>T (p.Ala77Val)

SNV
Germline

Chr1:237330939

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16610004

rs_1060500142

3 SubmittersRCV001553236 RCV002446768 RCV002522771

NM_001035.3(RYR2):c.8416C>T (p.Arg2806Cys)

SNV
Germline

Chr1:237660927

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA16610006

rs_727504134

3 SubmittersRCV002411425 RCV002526384 RCV002480340

NM_001035.3(RYR2):c.865A>G (p.Ile289Val)

SNV
Germline

Chr1:237423108

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA087700

rs_767673456

4 SubmittersRCV001525014 RCV002522769 RCV004000613 RCV004659034

NM_001035.3(RYR2):c.9561G>C (p.Lys3187Asn)

SNV
Germline

Chr1:237705324

Conflicting classifications of pathogenicity

Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA16610010

rs_1060500168

5 SubmittersRCV002480341 RCV003532125 RCV004000630 RCV002379411 RCV002523282

NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys)

SNV
Germline

Chr1:237638450

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA16610013

rs_1060500156

1 SubmittersRCV002526389

NM_001035.3(RYR2):c.7374G>A (p.Ala2458=)

SNV
Germline

Chr1:237648475

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087381

rs_780891381

4 SubmittersRCV001181427 RCV002526392 RCV002379412 RCV004000632

NM_001035.3(RYR2):c.9963G>A (p.Pro3321=)

SNV
Germline

Chr1:237708919

Conflicting classifications of pathogenicity

Condition: not provided
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy
not specified
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087988

rs_199730192

10 SubmittersRCV000589442 RCV001101534 RCV001101535 RCV002383853 RCV001178578 RCV001700119 RCV004002015

NM_001035.3(RYR2):c.8798T>G (p.Val2933Gly)

SNV
Germline

Chr1:237674814

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
not specified
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087727

rs_550691734

6 SubmittersRCV000520735 RCV001186329 RCV003103767 RCV002374739 RCV005431675 RCV004000619

NM_001035.3(RYR2):c.615C>T (p.Ala205=)

SNV
Germline

Chr1:237387319

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA087057

rs_112680790

11 SubmittersRCV000768753 RCV000593649 RCV003330699 RCV002526467 RCV002356712 RCV004002012 RCV004539961

NM_001035.3(RYR2):c.12463T>A (p.Ser4155Thr)

SNV
Germline

Chr1:237784175

Conflicting classifications of pathogenicity

not specified
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16610026

rs_1060500135

4 SubmittersRCV002282148 RCV002488998 RCV003153575 RCV005480368

NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu)

SNV
Germline

Chr1:237617394

Conflicting classifications of pathogenicity

Cardiomyopathy
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
not specified

Criteria Provided
Conflicting Classifications

CA086981

rs_368669045

7 SubmittersRCV001185258 RCV002506090 RCV004000624 RCV004691233 RCV002356633 RCV003103770 RCV005239016

NM_001035.3(RYR2):c.9772C>T (p.Pro3258Ser)

SNV
Germline

Chr1:237707140

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA087955

rs_368028300

2 SubmittersRCV001181374 RCV003103769

NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys)

SNV
Germline

Chr1:237756342

Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16610052

rs_1060500150

2 SubmittersRCV001575619 RCV002522780

NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile)

SNV
Germline

Chr1:237772077

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16610054

rs_1060500137

2 SubmittersRCV003103762 RCV005404571

NM_001035.3(RYR2):c.13904T>A (p.Ile4635Asn)

SNV
Germline

Chr1:237793988

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA16610067

rs_1060500169

3 SubmittersRCV000786205 RCV002523283 RCV005010335

NM_001035.3(RYR2):c.3398G>A (p.Arg1133His)

SNV
Germline

Chr1:237566750

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA071505

rs_374397612

4 SubmittersRCV001188146 RCV003372715 RCV002269270 RCV002522775

NM_001035.3(RYR2):c.4899T>C (p.Pro1633=)

SNV
Germline

Chr1:237610977

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16610071

rs_1060503853

5 SubmittersRCV001097294 RCV001188149 RCV001097295 RCV004002020 RCV002341060

NM_001035.3(RYR2):c.7354G>A (p.Val2452Met)

SNV
Germline

Chr1:237648455

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087378

rs_377136047

5 SubmittersRCV000620494 RCV001184262 RCV002522785 RCV002488999 RCV004000622

NM_001035.3(RYR2):c.12215C>T (p.Thr4072Met)

SNV
Germline

Chr1:237783927

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA16610095

rs_928224285

4 SubmittersRCV000489632 RCV000772023 RCV002523284 RCV004000633

NM_006073.4(TRDN):c.2143A>G (p.Ser715Gly)

SNV
Germline

Chr6:123218648

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 5

Criteria Provided
Conflicting Classifications

CA3983584

rs_768748530

3 SubmittersRCV002525570 RCV002429506 RCV005230397

NM_006073.4(TRDN):c.1713A>C (p.Glu571Asp)

SNV
Germline

Chr6:123271146

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 5
not specified

Criteria Provided
Conflicting Classifications

CA3983801

rs_201115952

7 SubmittersRCV000620981 RCV001508199 RCV002525666 RCV003225729 RCV005239046

NM_006073.4(TRDN):c.419A>G (p.Lys140Arg)

SNV
Germline

Chr6:123547345

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 5
Catecholaminergic polymorphic ventricular tachycardia 1
not specified

Criteria Provided
Conflicting Classifications

CA3984390

rs_200953683

5 SubmittersRCV002526415 RCV002329046 RCV002506124 RCV005056024

NM_006073.4(TRDN):c.277C>T (p.Arg93Cys)

SNV
Germline

Chr6:123548568

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA3984423

rs_370788759

3 SubmittersRCV000619360 RCV002473022 RCV002526482

NM_006073.4(TRDN):c.167T>C (p.Leu56Pro)

SNV
Germline

Chr6:123570988

Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 5

Criteria Provided
Single Submitter

CA16612018

rs_1060502116

3 SubmittersRCV000786235 RCV003103778 RCV001580171

NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)

SNV
Germline

Chr1:237610825

Conflicting classifications of pathogenicity

not specified
Wolff-Parkinson-White pattern
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086724

rs_200070226

9 SubmittersRCV000482205 RCV000656153 RCV001171196 RCV002526557 RCV000766723 RCV002341136 RCV004003317

NM_001035.3(RYR2):c.11989A>G (p.Lys3997Glu)

SNV
Germline

Chr1:237783701

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA16617108

rs_1064794210

2 SubmittersRCV000484014 RCV003525913

NM_006073.4(TRDN):c.884C>T (p.Pro295Leu)

SNV
Germline

Chr6:123464953

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 5
Catecholaminergic polymorphic ventricular tachycardia 1
not specified

Criteria Provided
Conflicting Classifications

CA3984230

rs_201899630

7 SubmittersRCV000486067 RCV000619195 RCV003224297 RCV002526669 RCV004800423

NM_001232.4(CASQ2):c.234+2T>C

SNV
Germline

Chr1:115768306

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1023982

rs_757789935

3 SubmittersRCV000489910 RCV003766751 RCV002446956

NM_001035.3(RYR2):c.11914A>G (p.Met3972Val)

SNV
Germline

Chr1:237781598

Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA345410102

rs_1085307997

2 SubmittersRCV000490203 RCV002523420

NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val)

SNV
Germline

Chr1:237819171

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345426727

rs_1085307524

3 SubmittersRCV000489541 RCV002470876

NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys)

SNV
Germline

Chr6:123255878

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 5
Cardiovascular phenotype
Condition: not provided
not specified
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA3983705

rs_181571822

5 SubmittersRCV001286021 RCV000620324 RCV000766609 RCV000489524 RCV002526020

NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter)

SNV
Germline

Chr1:115725508

Pathogenic/Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1023758

rs_776874142

4 SubmittersRCV005004189 RCV002527048 RCV000497882

NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys)

SNV
Germline

Chr1:115768378

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA341767114

rs_1436844070

4 SubmittersRCV002526063 RCV000497364 RCV000618128

NM_001035.3(RYR2):c.1392C>A (p.His464Gln)

SNV
Germline

Chr1:237454490

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA085521

rs_749032742

9 SubmittersRCV000498149 RCV000522514 RCV000769774 RCV002526064 RCV004003435 RCV002489201 RCV004023275 RCV005404617

NM_001035.3(RYR2):c.6158A>G (p.Lys2053Arg)

SNV
Germline

Chr1:237625796

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA087055

rs_771590345

6 SubmittersRCV000506199 RCV002527369 RCV002358392 RCV004003560 RCV005401473

NM_001232.4(CASQ2):c.2T>C (p.Met1Thr)

SNV
Germline

Chr1:115768540

Pathogenic/Likely pathogenic

Condition: not provided
Wolff-Parkinson-White pattern
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA341767476

rs_1553197939

3 SubmittersRCV000523914 RCV001796094 RCV003638676

NM_001035.3(RYR2):c.950T>C (p.Met317Thr)

SNV
Germline

Chr1:237423193

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087910

rs_367601258

8 SubmittersRCV000522925 RCV000620365 RCV001188885 RCV002525200 RCV002481717 RCV003993997

NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu)

SNV
Germline

Chr1:237445447

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085140

rs_759830423

6 SubmittersRCV000521452 RCV001190504 RCV002481695 RCV002525113 RCV004984938 RCV004003599

NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn)

SNV
Germline

Chr1:237655915

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
not specified

Criteria Provided
Conflicting Classifications

CA087562

rs_202020477

7 SubmittersRCV000520895 RCV001188646 RCV002413416 RCV002527633 RCV004003630 RCV004689776

NM_001035.3(RYR2):c.11116G>A (p.Asp3706Asn)

SNV
Germline

Chr1:237742320

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA39821251

rs_942040362

5 SubmittersRCV000523159 RCV001183827 RCV002525153 RCV004984941 RCV004003608

NM_001035.3(RYR2):c.12944G>A (p.Gly4315Glu)

SNV
Germline

Chr1:237784656

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
not specified

Criteria Provided
Conflicting Classifications

CA085277

rs_766109950

6 SubmittersRCV000522106 RCV001187624 RCV002384014 RCV002525212 RCV004003629 RCV005434990

NM_001035.3(RYR2):c.13237C>A (p.Pro4413Thr)

SNV
Germline

Chr1:237784949

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085315

rs_773441342

6 SubmittersRCV000520156 RCV001293463 RCV001180380 RCV002384009 RCV002527613 RCV004003613

NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu)

SNV
Germline

Chr1:237832607

Pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA345410956

rs_1553343100

2 SubmittersRCV000522921 RCV000853603

NM_006073.4(TRDN):c.239C>T (p.Ser80Phe)

SNV
Germline

Chr6:123548606

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 5
TRDN-related disorder

Criteria Provided
Conflicting Classifications

CA3984427

rs_181287533

5 SubmittersRCV000519947 RCV000621197 RCV002525128 RCV003224305 RCV003925557

NM_001232.4(CASQ2):c.225C>T (p.Ile75=)

SNV
Germline

Chr1:115768317

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA419896025

rs_1373884863

2 SubmittersRCV001102444 RCV002526098

NM_001035.3(RYR2):c.44G>C (p.Arg15Pro)

SNV
Germline

Chr1:237042565

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345654226

rs_865784613

1 SubmittersRCV002527816

NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn)

SNV
Germline

Chr1:237445428

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345377490

rs_1553454821

1 SubmittersRCV002527785

NM_001035.3(RYR2):c.2910C>T (p.Tyr970=)

SNV
Germline

Chr1:237548434

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086238

rs_575899061

6 SubmittersRCV001098742 RCV001098743 RCV001182242 RCV002438350 RCV003419948 RCV003999104

NM_001035.3(RYR2):c.9129-7T>C

SNV
Germline

Chr1:237700222

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA658656996

rs_1466669135

3 SubmittersRCV001101437 RCV001101438 RCV003999133

NM_001035.3(RYR2):c.12076T>G (p.Leu4026Val)

SNV
Germline

Chr1:237783788

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085118

rs_765141566

4 SubmittersRCV001185994 RCV002350253 RCV002527787 RCV003999090

NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln)

SNV
Germline

Chr1:237793907

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345418069

rs_1553328170

4 SubmittersRCV001755831 RCV001248799

NM_001035.3(RYR2):c.5756G>A (p.Arg1919Gln)

SNV
Germline

Chr1:237617326

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
not specified

Criteria Provided
Conflicting Classifications

CA086956

rs_199893812

5 SubmittersRCV000541396 RCV001177351 RCV002350256 RCV002528371 RCV005400729

NM_001035.3(RYR2):c.7624G>A (p.Ala2542Thr)

SNV
Germline

Chr1:237649988

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087436

rs_373602064

3 SubmittersRCV003532167 RCV003153701 RCV003999129

NM_001035.3(RYR2):c.8896-9T>C

SNV
Germline

Chr1:237680447

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087782

rs_773401697

4 SubmittersRCV000777853 RCV002528381 RCV003999132

NM_001035.3(RYR2):c.10686A>G (p.Glu3562=)

SNV
Germline

Chr1:237723259

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA423820473

rs_1553300632

2 SubmittersRCV002527780 RCV003999086

NM_001035.3(RYR2):c.567A>T (p.Glu189Asp)

SNV
Germline

Chr1:237377426

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345375725

rs_1415931588

1 SubmittersRCV003638678

NM_001035.3(RYR2):c.677-7C>G

SNV
Germline

Chr1:237388080

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA075191

rs_747407654

2 SubmittersRCV002526073 RCV003532166

NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)

SNV
Germline

Chr1:237423135

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087787

rs_551099887

11 SubmittersRCV000596554 RCV000769770 RCV001194071 RCV002377061 RCV002526091 RCV004802146

NM_001035.3(RYR2):c.14808+3A>G

SNV
Germline

Chr1:237831568

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA085774

rs_377491955

6 SubmittersRCV001177343 RCV001550055 RCV002527803 RCV002395358 RCV004525965

NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg)

SNV
Germline

Chr1:237639095

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345395895

rs_1553263875

1 SubmittersRCV002526075

NM_001035.3(RYR2):c.11G>C (p.Gly4Ala)

SNV
Germline

Chr1:237042532

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA345654160

rs_866878858

3 SubmittersRCV002528357 RCV003999089 RCV005401486

NM_001035.3(RYR2):c.7060G>A (p.Ala2354Thr)

SNV
Germline

Chr1:237639146

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA087269

rs_773070579

5 SubmittersRCV001525946 RCV002528375 RCV003999123 RCV004023916 RCV004812325

NM_001035.3(RYR2):c.7550A>G (p.Asn2517Ser)

SNV
Germline

Chr1:237649914

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA345399058

rs_1314129285

5 SubmittersRCV003999127 RCV003302817 RCV002526084 RCV005231040

NM_001035.3(RYR2):c.12540C>T (p.Gly4180=)

SNV
Germline

Chr1:237784252

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085195

rs_772125105

7 SubmittersRCV000845473 RCV001189675 RCV001193936 RCV002420413 RCV002528359 RCV003999092

NM_001035.3(RYR2):c.13195A>G (p.Asn4399Asp)

SNV
Germline

Chr1:237784907

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085305

rs_764884250

3 SubmittersRCV002384109 RCV002527793 RCV004802144

NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu)

SNV
Germline

Chr1:237806236

Pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345423159

rs_794728802

2 SubmittersRCV000786201 RCV002527801

NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys)

SNV
Germline

Chr1:237819192

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345426888

rs_1553339086

1 SubmittersRCV002528364

NM_006073.4(TRDN):c.1811C>T (p.Thr604Ile)

SNV
Germline

Chr6:123260632

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3983728

rs_763939252

3 SubmittersRCV001545766 RCV003103805 RCV002413506

NM_006073.4(TRDN):c.232+2T>A

SNV
Germline

Chr6:123570921

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA365569008

rs_1554258777

1 SubmittersRCV002526109

NM_006073.4(TRDN):c.176C>T (p.Thr59Met)

SNV
Germline

Chr6:123570979

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 5

Criteria Provided
Conflicting Classifications

CA3984454

rs_397515459

4 SubmittersRCV002526104 RCV002413505 RCV004546515

NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter)

SNV
Germline

Chr1:115768427

Pathogenic/Likely pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA341767232

rs_756636650

3 SubmittersRCV000579287 RCV003338669 RCV002529041

NM_001035.3(RYR2):c.9293C>T (p.Thr3098Ile)

SNV
Germline

Chr1:237700393

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA345406100

rs_1227241969

5 SubmittersRCV000590261 RCV002530920 RCV001185002 RCV004024680 RCV004002428

NM_001035.3(RYR2):c.5279G>A (p.Arg1760Gln)

SNV
Germline

Chr1:237614407

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086864

rs_765106198

3 SubmittersRCV000587484 RCV002530914 RCV004002424

NM_001035.3(RYR2):c.4752G>A (p.Pro1584=)

SNV
Germline

Chr1:237610830

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086728

rs_780111656

5 SubmittersRCV000591934 RCV001189488 RCV003638682 RCV002341516 RCV004002455

NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg)

SNV
Germline

Chr1:237784253

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA085196

rs_775477470

9 SubmittersRCV000592307 RCV001189668 RCV002532446 RCV004002458 RCV005431790 RCV002420573 RCV002476301

NM_001035.3(RYR2):c.8736G>A (p.Leu2912=)

SNV
Germline

Chr1:237674752

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA087718

rs_762521873

5 SubmittersRCV000600823 RCV000768777 RCV002377242 RCV003153757

NM_001035.3(RYR2):c.774-14G>T

SNV
Germline

Chr1:237417035

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087479

rs_370114411

6 SubmittersRCV000612273 RCV000828505 RCV002531122 RCV001189433 RCV004002476

NM_001035.3(RYR2):c.3896T>C (p.Ile1299Thr)

SNV
Germline

Chr1:237590728

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA086492

rs_772551383

6 SubmittersRCV000612033 RCV002368034 RCV002529365 RCV005401512

NM_001035.3(RYR2):c.1476+3C>T

SNV
Germline

Chr1:237454577

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA529912661

rs_1387762631

4 SubmittersRCV001712617 RCV001186307 RCV002395553 RCV002531163

NM_001035.3(RYR2):c.4910+6C>T

SNV
Germline

Chr1:237610994

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA658795632

rs_1553521040

2 SubmittersRCV000612217 RCV002531556

NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn)

SNV
Germline

Chr1:237614742

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA086920

rs_761770946

6 SubmittersRCV001101129 RCV000613748 RCV001101128 RCV001176522 RCV002275071 RCV002350472

NM_001035.3(RYR2):c.6606C>T (p.Tyr2202=)

SNV
Germline

Chr1:237633628

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA423818260

rs_1270857666

3 SubmittersRCV000612746 RCV002528734 RCV005268674

NM_001035.3(RYR2):c.10838+4G>A

SNV
Germline

Chr1:237727203

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084554

rs_776923037

6 SubmittersRCV001525236 RCV002431773 RCV001697458 RCV002531504 RCV004002509

NM_006073.4(TRDN):c.1951+6C>A

SNV
Germline

Chr6:123255075

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA3983694

rs_781510666

2 SubmittersRCV001722587 RCV002529416

NM_006073.4(TRDN):c.1220-3C>T

SNV
Germline

Chr6:123377745

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA3984055

rs_773907258

3 SubmittersRCV000602762 RCV002358694 RCV002529592

NM_006073.4(TRDN):c.1568-4T>A

SNV
Germline

Chr6:123274674

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA3983859

rs_764779610

3 SubmittersRCV000619973 RCV001707778 RCV002531535

NM_001232.4(CASQ2):c.939+1G>T

SNV
Germline

Chr1:115705191

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Multiple Submitters
No Conflicts

CA29614531

rs_905985075

7 SubmittersRCV000620389 RCV001546390 RCV002506505 RCV002470933 RCV002531779 RCV004788035

NM_001232.4(CASQ2):c.898G>A (p.Asp300Asn)

SNV
Germline

Chr1:115705233

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 2

Criteria Provided
Conflicting Classifications

CA1023700

rs_376147306

6 SubmittersRCV000619631 RCV002531749 RCV003328607 RCV001098682

NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser)

SNV
Germline

Chr1:115705238

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA1023702

rs_548536938

5 SubmittersRCV000618889 RCV001591383 RCV002499002 RCV003343953 RCV002531789

NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)

SNV
Germline

Chr1:237441382

Pathogenic

Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA345376136

rs_1401116572

9 SubmittersRCV000620678 RCV003532205 RCV001529699 RCV002470934

NM_001035.3(RYR2):c.4444C>T (p.Arg1482Cys)

SNV
Germline

Chr1:237595505

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086623

rs_564869863

4 SubmittersRCV000619441 RCV002531791 RCV001187320 RCV004002695

NM_001035.3(RYR2):c.5570C>T (p.Pro1857Leu)

SNV
Germline

Chr1:237614698

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086908

rs_568198475

6 SubmittersRCV001187319 RCV001770549 RCV000619341 RCV002531807 RCV004002709

NM_001035.3(RYR2):c.5933A>G (p.Asn1978Ser)

SNV
Germline

Chr1:237623781

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087007

rs_773006920

5 SubmittersRCV001180585 RCV000620399 RCV002531803 RCV001775924 RCV004002707

NM_001035.3(RYR2):c.5977C>T (p.Arg1993Cys)

SNV
Germline

Chr1:237623825

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA087013

rs_767406030

3 SubmittersRCV000619247 RCV003153761 RCV005401531

NM_001035.3(RYR2):c.8899G>A (p.Val2967Ile)

SNV
Germline

Chr1:237680459

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA087785

rs_751546090

3 SubmittersRCV000619095 RCV000776218 RCV002531784

NM_001035.3(RYR2):c.10200T>C (p.Ala3400=)

SNV
Germline

Chr1:237709537

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
not specified
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA084211

rs_779316628

7 SubmittersRCV000621241 RCV001096094 RCV001096095 RCV002282264 RCV004002637 RCV001180586 RCV001613406

NM_001035.3(RYR2):c.11217G>A (p.Met3739Ile)

SNV
Germline

Chr1:237756359

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345425904

rs_397516502

3 SubmittersRCV000618525 RCV001254758 RCV002531736

NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn)

SNV
Germline

Chr1:237784932

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085311

rs_755585430

5 SubmittersRCV000621019 RCV001101827 RCV001101828 RCV000772659 RCV004002654

NM_006073.4(TRDN):c.1019A>G (p.Glu340Gly)

SNV
Germline

Chr6:123438095

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3984176

rs_745751151

3 SubmittersRCV000618950 RCV002531780 RCV004808534

NM_001035.3(RYR2):c.848+8G>C

SNV
Germline

Chr1:237417131

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
not specified
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA087647

rs_373075790

3 SubmittersRCV001102205 RCV001823741 RCV001102206

NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu)

SNV
Germline

Chr1:237589854

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA39802038

rs_1019112544

6 SubmittersRCV000765088 RCV001766367 RCV002458037 RCV002529899 RCV003532214 RCV004003864

NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)

SNV
Germline

Chr1:237503465

Conflicting classifications of pathogenicity

Sudden death
Hypertrophic cardiomyopathy
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA086075

rs_377068202

9 SubmittersRCV000678750 RCV000768528 RCV000773287 RCV002492993 RCV002458039 RCV002529925 RCV004691265 RCV004702230

NM_001035.3(RYR2):c.5046A>C (p.Glu1682Asp)

SNV
Germline

Chr1:237614174

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA086824

rs_3766870

3 SubmittersRCV001181045 RCV002529898 RCV004025537

NM_001035.3(RYR2):c.2357G>A (p.Gly786Asp)

SNV
Germline

Chr1:237500864

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA086019

rs_182778119

6 SubmittersRCV001179074 RCV002448989 RCV002529906 RCV004003868 RCV004691264

NM_001035.3(RYR2):c.94C>A (p.Gln32Lys)

SNV
Germline

Chr1:237270542

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA345654356

rs_1553373926

4 SubmittersRCV001089524 RCV002377396

NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr)

SNV
Germline

Chr1:237819187

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345426834

rs_1553339084

1 SubmittersRCV002529895

NM_001035.3(RYR2):c.3397C>T (p.Arg1133Cys)

SNV
Germline

Chr1:237566749

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086361

rs_748085424

4 SubmittersRCV001175901 RCV002458036 RCV002533219 RCV004003863

NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala)

SNV
Germline

Chr1:237783803

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085124

rs_755148895

6 SubmittersRCV000771485 RCV001509129 RCV002343257 RCV002507087 RCV002533221 RCV004003867

NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)

SNV
Germline

Chr1:237590715

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
not specified

Criteria Provided
Conflicting Classifications

CA072160

rs_200574919

11 SubmittersRCV000773286 RCV001090708 RCV002358805 RCV002499074 RCV002529892 RCV004003860 RCV004782484

NM_001035.3(RYR2):c.3932C>T (p.Ala1311Val)

SNV
Germline

Chr1:237590764

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA086503

rs_757471928

6 SubmittersRCV000786401 RCV002377395 RCV002533228 RCV004003873 RCV005401543

NM_001035.3(RYR2):c.3371C>T (p.Pro1124Leu)

SNV
Germline

Chr1:237566723

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086359

rs_779640835

5 SubmittersRCV001191182 RCV002483823 RCV002458038 RCV002529903 RCV004003865

NM_001035.3(RYR2):c.7094A>G (p.Asn2365Ser)

SNV
Germline

Chr1:237639180

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087278

rs_369774984

4 SubmittersRCV001175905 RCV002360555 RCV002533226 RCV004003871

NM_001035.3(RYR2):c.3836G>C (p.Ser1279Thr)

SNV
Germline

Chr1:237590668

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA086469

rs_751419465

3 SubmittersRCV002529935 RCV002358807 RCV003328611

NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys)

SNV
Germline

Chr1:237628052

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345411490

rs_1553531703

1 SubmittersRCV002529923

NM_001035.3(RYR2):c.12326T>C (p.Met4109Thr)

SNV
Germline

Chr1:237784038

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA345412972

rs_1373714510

2 SubmittersRCV002529907 RCV000657964

NM_001035.3(RYR2):c.14553C>A (p.Phe4851Leu)

SNV
Germline

Chr1:237819155

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345426597

rs_1291829047

3 SubmittersRCV001569166 RCV002060740

NM_001035.3(RYR2):c.13410C>T (p.Tyr4470=)

SNV
Germline

Chr1:237788069

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
not specified

Criteria Provided
Conflicting Classifications

CA085368

rs_183933829

6 SubmittersRCV001096403 RCV001096404 RCV001175625 RCV002386041 RCV004003894 RCV005056362

NM_006073.4(TRDN):c.1808G>C (p.Gly603Ala)

SNV
Germline

Chr6:123260635

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3983730

rs_766406818

3 SubmittersRCV002529917 RCV002406374 RCV001571719

NM_006073.4(TRDN):c.1276A>C (p.Thr426Pro)

SNV
Germline

Chr6:123366180

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA147256172

rs_1040336692

3 SubmittersRCV002293467 RCV002377394 RCV002533217

NM_006073.4(TRDN):c.1187-2A>G

SNV
Germline

Chr6:123377900

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 5
Catecholaminergic polymorphic ventricular tachycardia 1
TRDN-related disorder
Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 5

Criteria Provided
Conflicting Classifications

CA3984080

rs_578024729

7 SubmittersRCV000680131 RCV002531412 RCV003411589 RCV002334239 RCV004588103 RCV005367495

NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys)

SNV
Germline

Chr1:237369568

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA345654978

rs_1558698334

2 SubmittersRCV001248793

NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln)

SNV
Germline

Chr1:237454521

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085612

rs_765389300

5 SubmittersRCV001187697 RCV002531479 RCV002477572 RCV003362898 RCV003999607

NM_001035.3(RYR2):c.3477C>T (p.Gly1159=)

SNV
Germline

Chr1:237569198

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA086393

rs_780861754

3 SubmittersRCV002334324 RCV002485693 RCV002534331

NM_001035.3(RYR2):c.6793-3C>T

SNV
Germline

Chr1:237638354

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA087225

rs_372314209

5 SubmittersRCV001187693 RCV001585627 RCV002360752 RCV002532229 RCV003442026

NM_001035.3(RYR2):c.9779G>A (p.Arg3260Gln)

SNV
Germline

Chr1:237707147

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA087957

rs_750415021

4 SubmittersRCV001525328 RCV003999783 RCV003103832 RCV005268737

NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu)

SNV
Germline

Chr1:237778753

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345409507

rs_1558393802

1 SubmittersRCV002533476

NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)

SNV
Germline

Chr1:237784887

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
not specified
Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA085303

rs_753733164

7 SubmittersRCV001101825 RCV001101826 RCV001181816 RCV002386225 RCV003235360 RCV003999677 RCV004691284

NM_001035.3(RYR2):c.13303A>G (p.Thr4435Ala)

SNV
Germline

Chr1:237786011

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA085334

rs_374019555

4 SubmittersRCV001181824 RCV002386264 RCV002533709 RCV005411548

NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys)

SNV
Germline

Chr1:115725543

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1023766

rs_151115064

4 SubmittersRCV002388254 RCV002532267 RCV002485675 RCV004691282

NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu)

SNV
Germline

Chr1:237590709

Conflicting classifications of pathogenicity

Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA39802811

rs_962100875

3 SubmittersRCV003227834 RCV002493209 RCV003525945

NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val)

SNV
Germline

Chr1:237784251

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345413580

rs_1558405816

1 SubmittersRCV002547161

NM_001035.3(RYR2):c.13528G>C (p.Ala4510Pro)

SNV
Germline

Chr1:237791480

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA345417159

rs_397516510

2 SubmittersRCV002547124 RCV005401571

NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met)

SNV
Germline

Chr1:237819188

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345426847

rs_1558481148

1 SubmittersRCV002532206

NM_001035.3(RYR2):c.1024G>A (p.Val342Met)

SNV
Germline

Chr1:237441337

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA077002

rs_371898166

4 SubmittersRCV002386171 RCV002477531 RCV002544768 RCV004004259

NM_001035.3(RYR2):c.13778T>C (p.Leu4593Ser)

SNV
Germline

Chr1:237792319

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345417722

rs_1558424746

1 SubmittersRCV002533506

NM_001035.3(RYR2):c.2029T>A (p.Leu677Met)

SNV
Germline

Chr1:237496578

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA069394

rs_750815004

2 SubmittersRCV002547162 RCV004802362

NM_001035.3(RYR2):c.4097C>A (p.Thr1366Asn)

SNV
Germline

Chr1:237590929

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086531

rs_531412940

4 SubmittersRCV001180072 RCV002325348 RCV002531433 RCV004004227

NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys)

SNV
Germline

Chr1:237593587

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086601

rs_764144130

5 SubmittersRCV000768530 RCV001805820 RCV002533705 RCV002507234 RCV003999747

NM_001035.3(RYR2):c.6646G>C (p.Asp2216His)

SNV
Germline

Chr1:237633668

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345394253

rs_1558103974

1 SubmittersRCV002531451

NM_001035.3(RYR2):c.11624T>C (p.Val3875Ala)

SNV
Germline

Chr1:237772078

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345407229

rs_1558381851

1 SubmittersRCV002533719

NM_001035.3(RYR2):c.12477G>T (p.Gln4159His)

SNV
Germline

Chr1:237784189

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345413422

rs_1558405653

1 SubmittersRCV002533615

NM_006073.4(TRDN):c.529A>T (p.Lys177Ter)

SNV
Germline

Chr6:123516162

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA365568216

rs_1468290898

1 SubmittersRCV002532870

NM_006073.4(TRDN):c.1754G>A (p.Arg585Gln)

SNV
Germline

Chr6:123267736

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA3983769

rs_199986608

3 SubmittersRCV002397454 RCV003148835 RCV002533632

NM_001035.3(RYR2):c.4875G>A (p.Leu1625=)

SNV
Germline

Chr1:237610953

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA086756

rs_369323506

5 SubmittersRCV000768769 RCV002332547 RCV003999917 RCV002533948

NM_001035.3(RYR2):c.4276-9T>C

SNV
Germline

Chr1:237593467

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA913189733

rs_1559081633

2 SubmittersRCV000768763 RCV002533947

NM_001035.3(RYR2):c.5916+9A>G

SNV
Germline

Chr1:237617495

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
not specified

Criteria Provided
Conflicting Classifications

CA39833835

rs_1002006336

3 SubmittersRCV000769788 RCV002533953 RCV003230583

NM_001035.3(RYR2):c.9581-8T>C

SNV
Germline

Chr1:237706941

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA913189687

rs_1558258551

2 SubmittersRCV000768780 RCV002536603

NM_001035.3(RYR2):c.10725+4A>T

SNV
Germline

Chr1:237726312

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084497

rs_116444428

7 SubmittersRCV000769801 RCV001101643 RCV001101644 RCV002260667 RCV002422653 RCV003999931

NM_001035.3(RYR2):c.2045C>G (p.Thr682Arg)

SNV
Germline

Chr1:237496594

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA085949

rs_377285489

5 SubmittersRCV000772879 RCV003307406 RCV002534038 RCV003999990 RCV004535898

NM_001035.3(RYR2):c.3122G>A (p.Arg1041Gln)

SNV
Germline

Chr1:237550599

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA086314

rs_773781713

5 SubmittersRCV000774277 RCV001759455 RCV002534128 RCV004001378 RCV005268746

NM_001035.3(RYR2):c.3226G>A (p.Glu1076Lys)

SNV
Germline

Chr1:237566578

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086339

rs_781547572

4 SubmittersRCV000774491 RCV002536683 RCV003159160 RCV004001406

NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu)

SNV
Germline

Chr1:237614556

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086888

rs_754364233

6 SubmittersRCV000774172 RCV001100856 RCV001100857 RCV003317363 RCV004659197 RCV004001359

NM_001035.3(RYR2):c.5593G>A (p.Glu1865Lys)

SNV
Germline

Chr1:237614721

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA086915

rs_553819263

4 SubmittersRCV000774210 RCV004001364 RCV002343625 RCV002536678

NM_001035.3(RYR2):c.5680C>A (p.Leu1894Ile)

SNV
Germline

Chr1:237614808

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Hypertrophic cardiomyopathy
RYR2-related disorder
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA086934

rs_555692728

5 SubmittersRCV000774547 RCV002343630 RCV001293046 RCV004535904 RCV002534149

NM_001035.3(RYR2):c.8449G>A (p.Ala2817Thr)

SNV
Germline

Chr1:237666524

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA087629

rs_527576067

5 SubmittersRCV000774381 RCV002442587 RCV002534138 RCV004001393 RCV005411559

NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)

SNV
Germline

Chr1:237700290

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA087845

rs_375482798

7 SubmittersRCV000774129 RCV001332697 RCV002370037 RCV002507343 RCV002509530 RCV002536675

NM_001035.3(RYR2):c.12331A>C (p.Asn4111His)

SNV
Germline

Chr1:237784043

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085169

rs_192890834

5 SubmittersRCV000774039 RCV002534110 RCV003317362 RCV004027260 RCV004001343

NM_001035.3(RYR2):c.14875C>T (p.Arg4959Trp)

SNV
Germline

Chr1:237832618

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA085786

rs_755308070

4 SubmittersRCV000774059 RCV002282363 RCV002388395 RCV005092267

NM_001035.3(RYR2):c.1511G>A (p.Arg504His)

SNV
Germline

Chr1:237456634

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA085797

rs_201600087

6 SubmittersRCV000781822 RCV001187355 RCV001258370 RCV002388409

NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg)

SNV
Unknown

Chr1:237778678

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345409022

rs_1573911397

1 SubmittersRCV000790451

NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter)

SNV
Germline

Chr1:115705275

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA341766905

rs_1471576368

1 SubmittersRCV002537226

NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter)

SNV
Germline

Chr1:115738281

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA1023900

rs_375598471

1 SubmittersRCV002537337

NM_001035.3(RYR2):c.854G>T (p.Ser285Ile)

SNV
Germline

Chr1:237423097

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345385133

rs_1342435908

1 SubmittersRCV002537344

NM_001035.3(RYR2):c.1504A>G (p.Ile502Val)

SNV
Germline

Chr1:237456627

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345381363

rs_1309242606

3 SubmittersRCV001181917 RCV002390682 RCV002535495

NM_001035.3(RYR2):c.1574C>G (p.Ser525Cys)

SNV
Germline

Chr1:237456697

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA085818

rs_776188922

5 SubmittersRCV002537992 RCV001698773 RCV003307449 RCV005401611

NM_001035.3(RYR2):c.2374G>A (p.Val792Ile)

SNV
Germline

Chr1:237500881

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
RYR2-related disorder
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086024

rs_764485892

5 SubmittersRCV001183108 RCV002535510 RCV004029010 RCV004538125 RCV004002815

NM_001035.3(RYR2):c.5654G>C (p.Gly1885Ala)

SNV
Germline

Chr1:237614782

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA086927

rs_41315858

6 SubmittersRCV001525050 RCV002345761 RCV002537034 RCV002507378 RCV004001606 RCV004721609

NM_001035.3(RYR2):c.6284T>C (p.Ile2095Thr)

SNV
Germline

Chr1:237627924

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Criteria Provided
Conflicting Classifications

CA087086

rs_142498105

5 SubmittersRCV002537392 RCV004001772 RCV001188546 RCV002363125 RCV002487791

NM_001035.3(RYR2):c.6800G>A (p.Arg2267His)

SNV
Germline

Chr1:237638364

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA087228

rs_759012078

5 SubmittersRCV001816852 RCV001184874 RCV004001598 RCV002534594 RCV004027553

NM_001035.3(RYR2):c.7256T>G (p.Ile2419Ser)

SNV
Germline

Chr1:237643361

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345396928

rs_1573300872

1 SubmittersRCV002534800

NM_001035.3(RYR2):c.7458T>G (p.His2486Gln)

SNV
Germline

Chr1:237648559

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA087393

rs_377763795

6 SubmittersRCV001186812 RCV001797146 RCV004001783 RCV004702450 RCV002381830 RCV002537400

NM_001035.3(RYR2):c.8314C>T (p.Arg2772Cys)

SNV
Germline

Chr1:237660825

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087611

rs_754379518

3 SubmittersRCV002536977 RCV002424807 RCV004001587

NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val)

SNV
Germline

Chr1:237707240

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA345409491

rs_1209752961

3 SubmittersRCV002534771 RCV002462164

NM_001035.3(RYR2):c.11250A>C (p.Glu3750Asp)

SNV
Germline

Chr1:237757701

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084880

rs_769433180

2 SubmittersRCV002537230 RCV004803240

NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp)

SNV
Germline

Chr1:237772044

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345407069

rs_1573887621

1 SubmittersRCV002538149

NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp)

SNV
Germline

Chr1:237778727

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA345409335

rs_1226397753

2 SubmittersRCV002537074 RCV004822204

NM_001035.3(RYR2):c.11865G>C (p.Gln3955His)

SNV
Germline

Chr1:237778755

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345409520

rs_1573911593

1 SubmittersRCV002537325

NM_001035.3(RYR2):c.12241G>A (p.Glu4081Lys)

SNV
Germline

Chr1:237783953

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085155

rs_763004638

6 SubmittersRCV002537322 RCV005401620 RCV001568171 RCV002260044 RCV002352398 RCV004001718

NM_001035.3(RYR2):c.12578G>A (p.Cys4193Tyr)

SNV
Germline

Chr1:237784290

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345413668

rs_1573935244

1 SubmittersRCV002538155

NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu)

SNV
Germline

Chr1:237784301

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345413693

rs_765238394

1 SubmittersRCV002535983

NM_001035.3(RYR2):c.14683A>C (p.Asn4895His)

SNV
Germline

Chr1:237830557

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345409688

rs_1185619003

1 SubmittersRCV002537232

NM_006073.4(TRDN):c.2164C>G (p.Pro722Ala)

SNV
Germline

Chr6:123218627

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA147201579

rs_774449661

4 SubmittersRCV002427021 RCV002534910 RCV001759590 RCV004586944

NM_006073.4(TRDN):c.797A>G (p.Gln266Arg)

SNV
Germline

Chr6:123497249

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 5

Criteria Provided
Conflicting Classifications

CA3984255

rs_200068375

3 SubmittersRCV002406801 RCV002537245 RCV003224476

NM_001035.3(RYR2):c.4596+6C>T

SNV
Germline

Chr1:237595663

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA086650

rs_766080208

2 SubmittersRCV001183011 RCV002535846

NM_001035.3(RYR2):c.3066+5A>G

SNV
Germline

Chr1:237548595

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA529543128

rs_1346060761

4 SubmittersRCV004028179 RCV001191969 RCV002537181 RCV004001671

NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile)

SNV
Germline

Chr1:115768462

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1024003

rs_773237428

5 SubmittersRCV000825714 RCV002415954 RCV003153870 RCV005004457

NM_001035.3(RYR2):c.14896C>T (p.Leu4966=)

SNV
Germline

Chr1:237832639

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085789

rs_368031082

5 SubmittersRCV000840322 RCV003489934 RCV002390724 RCV002538291 RCV004002889

NM_001035.3(RYR2):c.13477-18A>G

SNV
Germline

Chr1:237791411

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA733299287

rs_1381666659

2 SubmittersRCV000842169 RCV002536146

NM_001035.3(RYR2):c.2223A>G (p.Val741=)

SNV
Germline

Chr1:237500730

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Cardiovascular phenotype
not specified
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085996

rs_117242563

6 SubmittersRCV001100448 RCV001100449 RCV001189324 RCV002427103 RCV003317392 RCV004002928

NM_001035.3(RYR2):c.5454T>C (p.Phe1818=)

SNV
Germline

Chr1:237614582

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Cardiovascular phenotype
not specified
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086890

rs_201218861

8 SubmittersRCV000876375 RCV001100858 RCV001100859 RCV001179314 RCV003307650 RCV001701338 RCV004003114

NM_001035.3(RYR2):c.11877G>A (p.Ser3959=)

SNV
Germline

Chr1:237778767

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
not specified
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA085067

rs_754610647

6 SubmittersRCV001096313 RCV001585832 RCV001096314 RCV001190600 RCV004003067 RCV002336826

NM_001035.3(RYR2):c.13261-9T>C

SNV
Germline

Chr1:237785960

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
not specified
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA085327

rs_766481385

4 SubmittersRCV001186282 RCV001413903 RCV004800623 RCV005092594

NM_001035.3(RYR2):c.8838C>T (p.Gly2946=)

SNV
Germline

Chr1:237678055

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087749

rs_758912397

4 SubmittersRCV002372561 RCV002544956 RCV003532316 RCV004003194

NM_001035.3(RYR2):c.5703A>G (p.Pro1901=)

SNV
Germline

Chr1:237614831

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA424031644

rs_1573127804

3 SubmittersRCV002346132 RCV002544547 RCV004003306

NM_001035.3(RYR2):c.4596+7G>A

SNV
Germline

Chr1:237595664

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
not specified

Criteria Provided
Conflicting Classifications

CA39807469

rs_1008000319

2 SubmittersRCV005208951 RCV005236460

NM_001035.3(RYR2):c.3424-4A>G

SNV
Germline

Chr1:237569141

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA529912794

rs_1170393191

4 SubmittersRCV003532338 RCV004004357 RCV002454186 RCV002547248

NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val)

SNV
Germline

Chr1:237660930

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
not specified

Criteria Provided
Conflicting Classifications

CA345401986

rs_1394059438

7 SubmittersRCV000981786 RCV001185012 RCV002445137 RCV001097673 RCV001097674 RCV003317403

NM_001232.4(CASQ2):c.381C>T (p.Gly127=)

SNV
Germline

Chr1:115740767

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1023929

rs_775663612

5 SubmittersRCV000986400 RCV002550596 RCV002354893

NM_001035.3(RYR2):c.8936G>A (p.Arg2979His)

SNV
Germline

Chr1:237680496

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA087789

rs_753179691

5 SubmittersRCV001189434 RCV002549863 RCV002481766 RCV004004427 RCV004986728

NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln)

SNV
Germline

Chr1:115768444

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Multiple Submitters
No Conflicts

CA1023999

rs_749547712

4 SubmittersRCV003339457 RCV002554554 RCV004773290

NM_001035.3(RYR2):c.1241G>A (p.Arg414His)

SNV
Germline

Chr1:237445471

Conflicting classifications of pathogenicity

Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
not specified
Condition: not provided
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA39779763

rs_371121679

8 SubmittersRCV001176534 RCV001098557 RCV001098556 RCV001249002 RCV001700968 RCV005005000 RCV004004794

NM_001035.3(RYR2):c.4294A>C (p.Ile1432Leu)

SNV
Germline

Chr1:237593494

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA086595

rs_769163639

6 SubmittersRCV001524517 RCV002327263 RCV002481872 RCV002553057 RCV004004726 RCV005004991

NM_001035.3(RYR2):c.4990G>A (p.Val1664Ile)

SNV
Germline

Chr1:237614118

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA073656

rs_749434532

4 SubmittersRCV001186013 RCV003153905 RCV004004766 RCV002553109

NM_001035.3(RYR2):c.6013A>G (p.Thr2005Ala)

SNV
Germline

Chr1:237623861

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA087019

rs_373235823

5 SubmittersRCV001176329 RCV003160273 RCV003103902 RCV003883537

NM_001035.3(RYR2):c.6150T>G (p.Ser2050Arg)

SNV
Germline

Chr1:237625788

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087053

rs_371310419

3 SubmittersRCV002354985 RCV002553038 RCV004004715

NM_001035.3(RYR2):c.6982C>G (p.Pro2328Ala)

SNV
Germline

Chr1:237639068

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345395838

rs_121918603

1 SubmittersRCV002552507

NM_001035.3(RYR2):c.7009G>A (p.Gly2337Arg)

SNV
Germline

Chr1:237639095

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345395896

rs_1553263875

2 SubmittersRCV002363578 RCV002551504

NM_001035.3(RYR2):c.7424T>C (p.Val2475Ala)

SNV
Germline

Chr1:237648525

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345398321

rs_1682400034

1 SubmittersRCV002554543

NM_001035.3(RYR2):c.7906G>A (p.Glu2636Lys)

SNV
Germline

Chr1:237654355

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345400363

rs_1683044033

2 SubmittersRCV002416373 RCV003638737

NM_001035.3(RYR2):c.8450C>T (p.Ala2817Val)

SNV
Germline

Chr1:237666525

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA087630

rs_765782802

3 SubmittersRCV004000046 RCV001185098 RCV002553741

NM_001035.3(RYR2):c.11036A>G (p.Lys3679Arg)

SNV
Germline

Chr1:237732146

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084659

rs_758125356

4 SubmittersRCV001194072 RCV002553839 RCV004031838 RCV004000099

NM_001035.3(RYR2):c.13604C>T (p.Thr4535Met)

SNV
Germline

Chr1:237792145

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085422

rs_756839134

3 SubmittersRCV001186015 RCV002553195 RCV004004793

NM_001035.3(RYR2):c.13937A>C (p.Asp4646Ala)

SNV
Germline

Chr1:237795312

Pathogenic

Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345418613

rs_1658967336

2 SubmittersRCV001814262 RCV002553827

NM_006073.4(TRDN):c.1966A>G (p.Arg656Gly)

SNV
Germline

Chr6:123252421

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA365561872

rs_1776405797

2 SubmittersRCV002552590 RCV004031416

NM_006073.4(TRDN):c.502G>T (p.Glu168Ter)

SNV
Germline

Chr6:123516189

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 5
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA365568282

rs_545032318

4 SubmittersRCV001580170 RCV002551449 RCV004031109

NM_001035.3(RYR2):c.14152-3T>C

SNV
Germline

Chr1:237806134

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA085602

rs_376797615

5 SubmittersRCV001191867 RCV001194097 RCV002552509 RCV004004758 RCV004031295

NM_001035.3(RYR2):c.6899A>G (p.Asp2300Gly)

SNV
Germline

Chr1:237638463

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345395649

rs_1681104142

2 SubmittersRCV001089523

NM_001035.3(RYR2):c.12006G>A (p.Met4002Ile)

SNV
Unknown

Chr1:237783718

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345411873

rs_1695315646

1 SubmittersRCV001089520

NM_001035.3(RYR2):c.12455T>A (p.Ile4152Asn)

SNV
Germline

Chr1:237784167

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA345413323

rs_1695358851

2 SubmittersRCV001089519 RCV001759857

NM_001035.3(RYR2):c.14769G>T (p.Met4923Ile)

SNV
Unknown

Chr1:237831526

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345409900

rs_1663792524

1 SubmittersRCV001089518

NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr)

SNV
Germline

Chr1:237831534

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA345409920

rs_1663793007

3 SubmittersRCV001089536 RCV002393349

NM_001232.4(CASQ2):c.501C>G (p.Leu167=)

SNV
Germline

Chr1:115738255

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 2
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA1023893

rs_146051391

3 SubmittersRCV001100489 RCV002348557 RCV002556032

NM_001035.3(RYR2):c.1789A>G (p.Ile597Val)

SNV
Germline

Chr1:237491886

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA085890

rs_770408945

3 SubmittersRCV001096890 RCV001096891 RCV005401732

NM_001035.3(RYR2):c.2175T>C (p.Tyr725=)

SNV
Germline

Chr1:237496724

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085964

rs_758813812

5 SubmittersRCV001100447 RCV001100446 RCV001182621 RCV003363108 RCV004000235

NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr)

SNV
Germline

Chr1:237589960

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA086440

rs_769729405

3 SubmittersRCV001100938 RCV001100937 RCV001177232

NM_001035.3(RYR2):c.7035A>T (p.Ala2345=)

SNV
Germline

Chr1:237639121

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA423819059

rs_1681182291

4 SubmittersRCV001101222 RCV001101223 RCV001176192 RCV004000237

NM_001035.3(RYR2):c.7233C>A (p.Ala2411=)

SNV
Germline

Chr1:237643338

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA423819403

rs_367994477

4 SubmittersRCV001097474 RCV001097475 RCV001189684 RCV003293875

NM_001035.3(RYR2):c.9646G>A (p.Glu3216Lys)

SNV
Germline

Chr1:237707014

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA087938

rs_760965671

1 SubmittersRCV001097764 RCV001097765

NM_001035.3(RYR2):c.10414C>T (p.Arg3472Trp)

SNV
Germline

Chr1:237717288

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA345414530

rs_1689344988

4 SubmittersRCV001097853 RCV001097854 RCV004000227 RCV005401733

NM_001035.3(RYR2):c.11427G>A (p.Glu3809=)

SNV
Germline

Chr1:237760979

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084958

rs_553350678

5 SubmittersRCV001099747 RCV001099748 RCV003160627 RCV001182052 RCV004000234

NM_001035.3(RYR2):c.14085A>C (p.Ser4695=)

SNV
Germline

Chr1:237798165

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA085556

rs_758566439

4 SubmittersRCV001096510 RCV001096509 RCV004659348 RCV005401731

NM_001035.3(RYR2):c.*399A>G

SNV
Germline

Chr1:237833046

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA39835439

rs_184537159

1 SubmittersRCV001100127 RCV001100128

NM_001232.4(CASQ2):c.533-12T>G

SNV
Germline

Chr1:115732986

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA1023873

rs_774246167

2 SubmittersRCV001100488 RCV003638739

NM_001035.3(RYR2):c.463+14G>A

SNV
Germline

Chr1:237374809

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA086659

rs_776302587

4 SubmittersRCV001096713 RCV001096714 RCV001692349 RCV004702638

NM_001035.3(RYR2):c.3067-14G>C

SNV
Germline

Chr1:237550530

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA086281

rs_757471501

4 SubmittersRCV001102505 RCV001097095 RCV004000224 RCV001180848

NM_001035.3(RYR2):c.3598+13T>C

SNV
Germline

Chr1:237569332

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
not specified

Criteria Provided
Conflicting Classifications

CA086411

rs_145104355

3 SubmittersRCV001100934 RCV001100669 RCV005056886

NM_001035.3(RYR2):c.6688+13C>A

SNV
Germline

Chr1:237633723

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2

Criteria Provided
Conflicting Classifications

CA733309631

rs_1262322008

2 SubmittersRCV001099219 RCV001099220

NM_006073.4(TRDN):c.22+1G>T

SNV
Germline

Chr6:123636753

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 5
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA365567962

rs_1290195833

2 SubmittersRCV001169890 RCV003638740

NM_001035.3(RYR2):c.10709G>A (p.Arg3570Gln)

SNV
Germline

Chr1:237726292

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA084479

rs_751520590

6 SubmittersRCV001170265 RCV002418601 RCV002558704 RCV004000268 RCV005256745

NM_001035.3(RYR2):c.13529C>T (p.Ala4510Val)

SNV
Germline

Chr1:237791481

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345417162

rs_1658373672

2 SubmittersRCV001170490 RCV002558710

NM_001035.3(RYR2):c.256G>A (p.Val86Met)

SNV
Germline

Chr1:237330965

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345654711

rs_1217618479

2 SubmittersRCV001186746 RCV002559945

NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly)

SNV
Germline

Chr1:237445479

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA066204

rs_564822776

7 SubmittersRCV001188563 RCV001706720 RCV001776135 RCV003293962 RCV004010292

NM_001035.3(RYR2):c.1336G>A (p.Asp446Asn)

SNV
Germline

Chr1:237454434

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA085358

rs_748867973

2 SubmittersRCV001189560 RCV002560941

NM_001035.3(RYR2):c.1405C>T (p.His469Tyr)

SNV
Germline

Chr1:237454503

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345380471

rs_776288769

2 SubmittersRCV001187752 RCV003638769

NM_001035.3(RYR2):c.1573T>G (p.Ser525Ala)

SNV
Germline

Chr1:237456696

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Criteria Provided
Conflicting Classifications

CA345381808

rs_1207389001

5 SubmittersRCV001176381 RCV002402526 RCV002555455 RCV004006290 RCV005235524

NM_001035.3(RYR2):c.1987G>A (p.Val663Ile)

SNV
Germline

Chr1:237496536

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085940

rs_374277541

5 SubmittersRCV001191892 RCV002559206 RCV001700717 RCV004010552

NM_001035.3(RYR2):c.2039A>G (p.Asp680Gly)

SNV
Germline

Chr1:237496588

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
not specified

Criteria Provided
Conflicting Classifications

CA085947

rs_758835308

6 SubmittersRCV001176856 RCV002558833 RCV001776126 RCV002418609 RCV004006334 RCV004800713

NM_001035.3(RYR2):c.2275T>A (p.Leu759Ile)

SNV
Germline

Chr1:237500782

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086003

rs_768063536

3 SubmittersRCV001184645 RCV002560858 RCV004008476

NM_001035.3(RYR2):c.2512C>G (p.Arg838Gly)

SNV
Germline

Chr1:237503404

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA345379247

rs_1407524067

4 SubmittersRCV001179002 RCV002558895 RCV004006523 RCV004033030

NM_001035.3(RYR2):c.2513G>A (p.Arg838Gln)

SNV
Germline

Chr1:237503405

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086063

rs_764043352

4 SubmittersRCV001192133 RCV002560143 RCV002429846 RCV004010574

NM_001035.3(RYR2):c.2601G>A (p.Val867=)

SNV
Germline

Chr1:237503493

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA423816507

rs_1664878565

2 SubmittersRCV001188053 RCV003638771

NM_001035.3(RYR2):c.2642T>G (p.Ile881Arg)

SNV
Germline

Chr1:237506738

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086101

rs_762792701

4 SubmittersRCV001179365 RCV001751318 RCV002555502 RCV004006561

NM_001035.3(RYR2):c.3622G>A (p.Gly1208Arg)

SNV
Germline

Chr1:237589816

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086426

rs_770286824

3 SubmittersRCV001181972 RCV003526044 RCV004006772

NM_001035.3(RYR2):c.3890C>T (p.Thr1297Ile)

SNV
Germline

Chr1:237590722

Conflicting classifications of pathogenicity

Cardiomyopathy
Hypertrophic cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA345397301

rs_746350036

4 SubmittersRCV001185695 RCV001293090 RCV002559915 RCV004008551

NM_001035.3(RYR2):c.4735G>A (p.Val1579Met)

SNV
Germline

Chr1:237610813

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA086718

rs_763389778

6 SubmittersRCV001181794 RCV001192693 RCV001593312 RCV002559005 RCV004006763 RCV004033063

NM_001035.3(RYR2):c.4840C>T (p.Arg1614Cys)

SNV
Germline

Chr1:237610918

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA073538

rs_373079767

3 SubmittersRCV001184510 RCV002559061 RCV004008463

NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys)

SNV
Germline

Chr1:237614637

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086896

rs_749184443

5 SubmittersRCV001187879 RCV002348630 RCV002484027 RCV002559996 RCV004008746

NM_001035.3(RYR2):c.5602C>A (p.Leu1868Ile)

SNV
Germline

Chr1:237614730

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA086919

rs_768636940

2 SubmittersRCV001180519 RCV005093831

NM_001035.3(RYR2):c.5751G>T (p.Gln1917His)

SNV
Germline

Chr1:237617321

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA345406889

rs_1259517167

3 SubmittersRCV001179266 RCV002558904 RCV003318393

NM_001035.3(RYR2):c.6430C>T (p.Arg2144Cys)

SNV
Germline

Chr1:237628070

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087100

rs_770847446

5 SubmittersRCV001177825 RCV002555480 RCV004006416

NM_001035.3(RYR2):c.7201C>T (p.Arg2401Cys)

SNV
Germline

Chr1:237640982

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345396790

rs_1321283106

4 SubmittersRCV002375073 RCV002559021 RCV005401738 RCV004796369

NM_001035.3(RYR2):c.7495G>A (p.Ala2499Thr)

SNV
Germline

Chr1:237648596

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087398

rs_191850147

5 SubmittersRCV001191848 RCV002393443 RCV005432609 RCV002560991 RCV004010547

NM_001035.3(RYR2):c.8248T>A (p.Ser2750Thr)

SNV
Germline

Chr1:237660024

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA087592

rs_547987180

4 SubmittersRCV001191167 RCV004010488 RCV003153941 RCV005603698

NM_001035.3(RYR2):c.8876A>C (p.Glu2959Ala)

SNV
Germline

Chr1:237678093

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087756

rs_536037366

3 SubmittersRCV001190361 RCV005057068 RCV004803540

NM_001035.3(RYR2):c.9599A>C (p.Asn3200Thr)

SNV
Germline

Chr1:237706967

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA345408307

rs_1688433173

3 SubmittersRCV001188276 RCV003638773 RCV004033381

NM_001035.3(RYR2):c.9667G>A (p.Glu3223Lys)

SNV
Germline

Chr1:237707035

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA076955

rs_556291797

5 SubmittersRCV001188661 RCV003163463 RCV001552972 RCV004010299 RCV002560931

NM_001035.3(RYR2):c.9738G>A (p.Met3246Ile)

SNV
Germline

Chr1:237707106

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA087950

rs_771846177

3 SubmittersRCV001189456 RCV004010359 RCV003638775

NM_001035.3(RYR2):c.9778C>T (p.Arg3260Trp)

SNV
Germline

Chr1:237707146

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA087956

rs_765325906

4 SubmittersRCV001192100 RCV004010569 RCV002560997 RCV003163483

NM_001035.3(RYR2):c.9817A>G (p.Met3273Val)

SNV
Germline

Chr1:237707185

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA345409149

rs_1365049763

4 SubmittersRCV001177443 RCV002558852 RCV002375066 RCV004006385

NM_001035.3(RYR2):c.10190G>A (p.Arg3397His)

SNV
Germline

Chr1:237709527

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA345411678

rs_753630324

3 SubmittersRCV001190381 RCV002559178 RCV004803541

NM_001035.3(RYR2):c.10190G>T (p.Arg3397Leu)

SNV
Germline

Chr1:237709527

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA063497

rs_753630324

5 SubmittersRCV001187501 RCV001509126 RCV002356855 RCV002559979 RCV004008704

NM_001035.3(RYR2):c.11120G>A (p.Gly3707Asp)

SNV
Germline

Chr1:237742324

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA345422145

rs_755613281

3 SubmittersRCV001185372 RCV002559084 RCV004803510

NM_001035.3(RYR2):c.11252C>G (p.Thr3751Ser)

SNV
Germline

Chr1:237757703

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA084881

rs_772768256

2 SubmittersRCV001185455 RCV003638764

NM_001035.3(RYR2):c.12660A>C (p.Glu4220Asp)

SNV
Germline

Chr1:237784372

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA345413856

rs_1323430299

5 SubmittersRCV001177118 RCV002445418 RCV003153934 RCV003442750 RCV004006360

NM_001035.3(RYR2):c.12674G>A (p.Arg4225Lys)

SNV
Germline

Chr1:237784386

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA345413888

rs_1223110750

5 SubmittersRCV001184121 RCV002559856 RCV003129727 RCV004803499 RCV005480592

NM_001035.3(RYR2):c.12920G>A (p.Arg4307His)

SNV
Germline

Chr1:237784632

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA085257

rs_769146715

5 SubmittersRCV001191177 RCV002559186 RCV004803547 RCV002484047 RCV002379735

NM_001035.3(RYR2):c.13301A>C (p.Glu4434Ala)

SNV
Germline

Chr1:237786009

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA085333

rs_771286329

4 SubmittersRCV001184113 RCV003526047 RCV004008432 RCV004033092

NM_001035.3(RYR2):c.13371G>T (p.Lys4457Asn)

SNV
Germline

Chr1:237788030

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085361

rs_769311004

3 SubmittersRCV001177400 RCV002555473 RCV004803451

NM_001035.3(RYR2):c.13627A>G (p.Lys4543Glu)

SNV
Germline

Chr1:237792168

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA085424

rs_745869007

2 SubmittersRCV001181602 RCV002559786

NM_001035.3(RYR2):c.13655A>G (p.His4552Arg)

SNV
Germline

Chr1:237792196

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA085429

rs_768299786

4 SubmittersRCV001190975 RCV002560099 RCV004010472 RCV004986923

NM_001035.3(RYR2):c.13743C>G (p.Val4581=)

SNV
Germline

Chr1:237792284

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA39832329

rs_377670364

4 SubmittersRCV001177974 RCV002558865 RCV002379687 RCV004006427

NM_001035.3(RYR2):c.14151C>T (p.Asn4717=)

SNV
Germline

Chr1:237801916

Conflicting classifications of pathogenicity

Cardiomyopathy
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA424051584

rs_1479892874

4 SubmittersRCV001183300 RCV002491534 RCV002559832 RCV004008370

NM_001035.3(RYR2):c.14233G>A (p.Asp4745Asn)

SNV
Germline

Chr1:237806218

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA345423069

rs_1660618055

3 SubmittersRCV001182408 RCV002560822 RCV004008294

NM_001035.3(RYR2):c.4597-4T>A

SNV
Germline

Chr1:237602021

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA913187684

rs_1676557876

2 SubmittersRCV001182107 RCV003336318

NM_001035.3(RYR2):c.7342+4A>T

SNV
Germline

Chr1:237643451

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087370

rs_771358777

4 SubmittersRCV001183532 RCV002379710 RCV002560842 RCV004008390

NM_001035.3(RYR2):c.8590+6A>G

SNV
Germline

Chr1:237667964

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA1139656700

rs_1684469954

2 SubmittersRCV001181247 RCV003638755

NM_001035.3(RYR2):c.13563+4C>T

SNV
Germline

Chr1:237791519

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA39831932

rs_926460699

4 SubmittersRCV001187635 RCV003293957 RCV002559988 RCV004008722

NM_001035.3(RYR2):c.2613+4C>G

SNV
Germline

Chr1:237503509

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
not specified

Criteria Provided
Conflicting Classifications

CA086083

rs_371880082

4 SubmittersRCV001182013 RCV002429814 RCV002559008 RCV003987795

NM_001035.3(RYR2):c.3808-5G>C

SNV
Germline

Chr1:237590635

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
RYR2-related disorder

Criteria Provided
Conflicting Classifications

CA529912741

rs_776405427

5 SubmittersRCV001178702 RCV002356832 RCV002559749 RCV004006495 RCV004538408

NM_001035.3(RYR2):c.6166+6C>T

SNV
Germline

Chr1:237625810

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA1139656657

rs_1679584792

2 SubmittersRCV001179605 RCV002558916

NM_001035.3(RYR2):c.274-3C>T

SNV
Germline

Chr1:237355962

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA086187

rs_776347774

2 SubmittersRCV001186818 RCV003103928

NM_001035.3(RYR2):c.7733+3G>A

SNV
Germline

Chr1:237650100

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA39798165

rs_1014182598

3 SubmittersRCV001188599 RCV002560026 RCV004010296

NM_001035.3(RYR2):c.773+4A>G

SNV
Germline

Chr1:237388187

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA913187576

rs_1702097862

2 SubmittersRCV001188216 RCV003638772

NM_001035.3(RYR2):c.1828-12T>G

SNV
Germline

Chr1:237492942

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA1139656652

rs_1663578215

2 SubmittersRCV001188535 RCV005057057

NM_001035.3(RYR2):c.2203+5G>A

SNV
Germline

Chr1:237496757

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA085980

rs_766288440

4 SubmittersRCV001190303 RCV003153940 RCV002429837 RCV001567111

NM_001035.3(RYR2):c.8437-3T>C

SNV
Germline

Chr1:237666509

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA39813051

rs_924080705

5 SubmittersRCV001187607 RCV002447017 RCV001201300 RCV002559985 RCV004008718

NM_001035.3(RYR2):c.8715-4C>G

SNV
Germline

Chr1:237674727

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA39819738

rs_1024126701

3 SubmittersRCV001183170 RCV002375075 RCV002559823

NM_001035.3(RYR2):c.9017+6C>T

SNV
Germline

Chr1:237680583

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA913187853

rs_1685786232

2 SubmittersRCV001190324 RCV002559176

NM_001035.3(RYR2):c.9449+3A>G

SNV
Germline

Chr1:237702062

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA076811

rs_1688012992

2 SubmittersRCV001188160 RCV003526054

NM_001035.3(RYR2):c.10838+3C>T

SNV
Germline

Chr1:237727202

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
not specified
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA529547186

rs_1417807379

5 SubmittersRCV001181595 RCV002429811 RCV003117814 RCV005408727 RCV005093845

NM_001035.3(RYR2):c.11146-8G>A

SNV
Germline

Chr1:237756280

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA529550845

rs_1425021300

2 SubmittersRCV001186795 RCV002559950

NM_001035.3(RYR2):c.11963-11T>G

SNV
Germline

Chr1:237783664

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085098

rs_790889

3 SubmittersRCV001187788 RCV002559995 RCV004008735

NM_001035.3(RYR2):c.13329-10G>C

SNV
Germline

Chr1:237787978

Conflicting classifications of pathogenicity

Cardiomyopathy
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085345

rs_754319442

4 SubmittersRCV001176841 RCV003142102 RCV002555464 RCV004006330

NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg)

SNV
Germline

Chr1:237819084

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345426127

rs_1402571360

2 SubmittersRCV001197675

NM_001035.3(RYR2):c.677G>A (p.Gly226Glu)

SNV
Germline

Chr1:237388087

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345378113

rs_1702087452

1 SubmittersRCV002562463

NM_001035.3(RYR2):c.5671G>A (p.Glu1891Lys)

SNV
Germline

Chr1:237614799

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA345405773

rs_1224597817

5 SubmittersRCV004010737 RCV002491688 RCV002562514 RCV005402993 RCV005480618

NM_001035.3(RYR2):c.7375G>A (p.Gly2459Arg)

SNV
Germline

Chr1:237648476

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA345398080

rs_1481363942

4 SubmittersRCV002224027 RCV002561892 RCV005268964

NM_001035.3(RYR2):c.7624G>T (p.Ala2542Ser)

SNV
Germline

Chr1:237649988

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA087437

rs_373602064

3 SubmittersRCV002562442 RCV004010719 RCV005268969

NM_001035.3(RYR2):c.9284A>G (p.Asn3095Ser)

SNV
Germline

Chr1:237700384

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA087854

rs_778591641

4 SubmittersRCV002375192 RCV002562440 RCV004010717 RCV003532900

NM_001035.3(RYR2):c.13327G>A (p.Glu4443Lys)

SNV
Germline

Chr1:237786035

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA345416005

rs_1409192667

3 SubmittersRCV002562547 RCV002222677 RCV005480623

NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter)

SNV
Germline

Chr1:115738290

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA341763920

rs_1648034747

1 SubmittersRCV002561780

NM_001035.3(RYR2):c.1888C>A (p.His630Asn)

SNV
Germline

Chr1:237493014

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345389494

rs_1195734687

2 SubmittersRCV002411738 RCV002561107

NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn)

SNV
Germline

Chr1:237503437

Conflicting classifications of pathogenicity

Condition: not provided
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA086068

rs_372569289

8 SubmittersRCV001256776 RCV002484100 RCV002429871 RCV003532891 RCV004819240 RCV004010632 RCV002561131

NM_001035.3(RYR2):c.5149G>T (p.Ala1717Ser)

SNV
Germline

Chr1:237614277

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086838

rs_547829995

2 SubmittersRCV002562351 RCV004803565

NM_001035.3(RYR2):c.11398T>C (p.Cys3800Arg)

SNV
Germline

Chr1:237759848

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345429000

rs_397516504

1 SubmittersRCV002562356

NM_001035.3(RYR2):c.310-5T>G

SNV
Germline

Chr1:237369529

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345654900

rs_1487803250

2 SubmittersRCV004010699 RCV002561830

NM_006073.4(TRDN):c.1952-5T>C

SNV
Germline

Chr6:123252440

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
TRDN-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3983673

rs_780537847

3 SubmittersRCV002561190 RCV003908446 RCV005298718

NM_001035.3(RYR2):c.1309A>G (p.Ser437Gly)

SNV
Germline

Chr1:237454407

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA345379895

rs_1658552670

2 SubmittersRCV002563760 RCV004033119

NM_001035.3(RYR2):c.2907T>C (p.Asn969=)

SNV
Germline

Chr1:237548431

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA086236

rs_763800107

5 SubmittersRCV002563134 RCV001673039 RCV004986978 RCV004004821 RCV005402998

NM_001035.3(RYR2):c.5371A>G (p.Thr1791Ala)

SNV
Germline

Chr1:237614499

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA39828328

rs_1025023837

3 SubmittersRCV001751457 RCV002348783 RCV002563781

NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr)

SNV
Germline

Chr1:237633671

Likely pathogenic

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA345394267

rs_1372052481

2 SubmittersRCV002366033 RCV002563753

NM_001035.3(RYR2):c.6686T>C (p.Leu2229Pro)

SNV
Germline

Chr1:237633708

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345394411

rs_1680574380

1 SubmittersRCV002563674

NM_001035.3(RYR2):c.9397A>G (p.Ile3133Val)

SNV
Germline

Chr1:237702007

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA39787839

rs_1032783973

5 SubmittersRCV002375231 RCV001776156 RCV002563183 RCV001806065 RCV004004834

NM_001035.3(RYR2):c.10220C>T (p.Ser3407Leu)

SNV
Germline

Chr1:237709557

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA063466

rs_780287361

2 SubmittersRCV002568643 RCV003117863

NM_001035.3(RYR2):c.14161T>C (p.Tyr4721His)

SNV
Germline

Chr1:237806146

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345422601

rs_1660612706

3 SubmittersRCV001261974 RCV001245502 RCV005623088

NM_001035.3(RYR2):c.6083G>A (p.Arg2028His)

SNV
Germline

Chr1:237625721

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA345408912

rs_1313042151

3 SubmittersRCV001258171 RCV004004929

NM_001035.3(RYR2):c.1244C>A (p.Thr415Lys)

SNV
Unknown

Chr1:237445474

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345377762

rs_1288202574

1 SubmittersRCV001258372

NM_001035.3(RYR2):c.12499G>A (p.Glu4167Lys)

SNV
Unknown

Chr1:237784211

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345413480

rs_1695363148

1 SubmittersRCV001258371

NM_001035.3(RYR2):c.6202C>T (p.Arg2068Ter)

SNV
Germline

Chr1:237627842

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA345410438

rs_1679845277

2 SubmittersRCV001263016 RCV004762039 RCV004720830

NM_001035.3(RYR2):c.2877C>A (p.Asp959Glu)

SNV
Germline

Chr1:237530481

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA39798671

rs_1042196921

4 SubmittersRCV001269220 RCV002537714 RCV001524128 RCV004778040

NM_001035.3(RYR2):c.39C>G (p.Phe13Leu)

SNV
Germline

Chr1:237042560

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345654219

rs_1660038687

2 SubmittersRCV001508968 RCV002544636

NM_001035.3(RYR2):c.5645A>G (p.Glu1882Gly)

SNV
Germline

Chr1:237614773

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA086924

rs_376441643

4 SubmittersRCV003222298 RCV003532936 RCV004005032 RCV002543147

NM_001035.3(RYR2):c.7315G>A (p.Ala2439Thr)

SNV
Germline

Chr1:237643420

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA087359

rs_367818536

4 SubmittersRCV001760361 RCV001526316 RCV002543116 RCV002384370

NM_001035.3(RYR2):c.8792G>T (p.Arg2931Leu)

SNV
Germline

Chr1:237674808

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA39819868

rs_905226907

2 SubmittersRCV002541923 RCV002375361

NM_001035.3(RYR2):c.12343C>T (p.Leu4115Phe)

SNV
Germline

Chr1:237784055

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345413011

rs_1695349832

1 SubmittersRCV002544987

NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr)

SNV
Germline

Chr1:237784136

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Paroxysmal familial ventricular fibrillation

Criteria Provided
Multiple Submitters
No Conflicts

CA085181

rs_761834154

2 SubmittersRCV002543200 RCV003325995

NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly)

SNV
Germline

Chr1:237784350

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345413806

rs_1178157004

4 SubmittersRCV002541904 RCV002447282 RCV004004991 RCV002493581

NM_001035.3(RYR2):c.3431G>A (p.Arg1144Gln)

SNV
Germline

Chr1:237569152

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA086386

rs_193125030

3 SubmittersRCV004005068 RCV005470734 RCV002543623

NM_001035.3(RYR2):c.5590C>A (p.Leu1864Met)

SNV
Germline

Chr1:237614718

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA345405357

rs_1202498329

4 SubmittersRCV002546199 RCV004035220 RCV003532950 RCV004005133

NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn)

SNV
Germline

Chr1:237784046

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA345412990

rs_1695348814

3 SubmittersRCV002543807 RCV005271157

NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly)

SNV
Germline

Chr1:237784577

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA345414501

rs_1386632671

4 SubmittersRCV002476447 RCV003153986 RCV004005069 RCV003532941

NM_006073.4(TRDN):c.1547G>C (p.Gly516Ala)

SNV
Germline

Chr6:123278338

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA3983869

rs_145032876

2 SubmittersRCV002402880 RCV002543665

NM_006073.4(TRDN):c.1257C>G (p.Asp419Glu)

SNV
Germline

Chr6:123375621

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3984032

rs_17737379

2 SubmittersRCV002543795 RCV003382520

NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter)

SNV
Germline

Chr1:115727014

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA341768662

rs_1647617368

3 SubmittersRCV002378353 RCV003526161 RCV005002831

NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro)

SNV
Germline

Chr1:115701344

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1023616

rs_762153545

3 SubmittersRCV002546829 RCV003346486 RCV002447390

NM_001035.3(RYR2):c.2698C>T (p.Leu900Phe)

SNV
Germline

Chr1:237506794

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA086108

rs_754314526

2 SubmittersRCV002547441 RCV005403042

NM_001035.3(RYR2):c.5793T>G (p.Asp1931Glu)

SNV
Germline

Chr1:237617363

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086975

rs_372222227

3 SubmittersRCV001524546 RCV002546983 RCV004803647

NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys)

SNV
Germline

Chr1:237638375

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Criteria Provided
Conflicting Classifications

CA087230

rs_375371340

5 SubmittersRCV002368152 RCV002499702 RCV002547513 RCV004005237 RCV005400760

NM_001035.3(RYR2):c.8407C>T (p.Arg2803Trp)

SNV
Germline

Chr1:237660918

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA087615

rs_754674622

5 SubmittersRCV001776213 RCV002412092 RCV003104051 RCV004005217 RCV005403045

NM_001035.3(RYR2):c.14368C>T (p.Arg4790Ter)

SNV
Germline

Chr1:237808970

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA345424300

rs_1660964820

2 SubmittersRCV002545594 RCV004005224

NM_006073.4(TRDN):c.1721-4A>T

SNV
Germline

Chr6:123269870

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 5
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3983789

rs_60743141

4 SubmittersRCV001664841 RCV002547008 RCV003741256 RCV005503101

NM_006073.4(TRDN):c.1622A>G (p.His541Arg)

SNV
Germline

Chr6:123273339

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA147231749

rs_919195476

2 SubmittersRCV002404822 RCV002547089

NM_001035.3(RYR2):c.5311A>G (p.Ile1771Val)

SNV
Germline

Chr1:237614439

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345404748

rs_1678240011

3 SubmittersRCV002493885 RCV002350711 RCV002548634

NM_001035.3(RYR2):c.6504C>A (p.His2168Gln)

SNV
Germline

Chr1:237631490

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345413160

rs_760237464

1 SubmittersRCV003106213

NM_001035.3(RYR2):c.6585C>G (p.Asn2195Lys)

SNV
Germline

Chr1:237633607

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345393988

rs_2148700748

2 SubmittersRCV002368206 RCV002548670

NM_001035.3(RYR2):c.8879T>C (p.Ile2960Thr)

SNV
Germline

Chr1:237678096

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA087757

rs_759048462

3 SubmittersRCV002550078 RCV004037054 RCV003481097

NM_001035.3(RYR2):c.537T>A (p.Asp179Glu)

SNV
Germline

Chr1:237377396

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345375658

rs_1362710187

1 SubmittersRCV003104059

NM_001035.3(RYR2):c.11836G>C (p.Gly3946Arg)

SNV
Germline

Chr1:237778726

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA345409319

rs_794728777

2 SubmittersRCV002550254 RCV001762663

NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys)

SNV
Germline

Chr1:237806159

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA345422692

rs_2149437479

3 SubmittersRCV001379326 RCV003225185 RCV004699353

NM_001035.3(RYR2):c.14234A>G (p.Asp4745Gly)

SNV
Germline

Chr1:237806219

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345423074

rs_2149437640

1 SubmittersRCV003104058

NM_001035.3(RYR2):c.514G>A (p.Gly172Arg)

SNV
Germline

Chr1:237377373

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345375569

rs_1701129738

1 SubmittersRCV002550280

NM_001035.3(RYR2):c.6933G>C (p.Glu2311Asp)

SNV
Germline

Chr1:237639019

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345395738

rs_794728747

1 SubmittersRCV002550966

NM_001035.3(RYR2):c.7421G>A (p.Arg2474Lys)

SNV
Germline

Chr1:237648522

Pathogenic

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA345398296

rs_2148789775

2 SubmittersRCV001751752 RCV002551541

NM_001035.3(RYR2):c.12269C>T (p.Pro4090Leu)

SNV
Germline

Chr1:237783981

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345412853

rs_2149353116

1 SubmittersRCV002550270

NM_006073.4(TRDN):c.22+29A>G

SNV
Germline

Chr6:123636725

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 5
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 5
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA3984519

rs_774068079

5 SubmittersRCV001580169 RCV002432068 RCV002499793 RCV002550267

NM_001035.3(RYR2):c.9549C>T (p.Ile3183=)

SNV
Germline

Chr1:237705312

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA423819329

rs_1360654111

3 SubmittersRCV002384592 RCV002553428 RCV004006906

NM_001035.3(RYR2):c.14301C>T (p.Leu4767=)

SNV
Germline

Chr1:237808903

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA085642

rs_369715118

5 SubmittersRCV002553400 RCV003298659 RCV004006894 RCV005243535 RCV005405591

NM_006073.4(TRDN):c.1472-5C>T

SNV
Germline

Chr6:123316500

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA2499218052

rs_2114699560

2 SubmittersRCV002395935 RCV002554036

NM_001035.3(RYR2):c.274-5C>A

SNV
Germline

Chr1:237355960

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA2499214582

rs_768394710

2 SubmittersRCV002559322 RCV004007037

NM_006073.4(TRDN):c.1365G>A (p.Glu455=)

SNV
Germline

Chr6:123352543

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA452055044

rs_1452206168

3 SubmittersRCV001762680 RCV003298755 RCV002555561

NM_001035.3(RYR2):c.12587C>T (p.Thr4196Ile)

SNV
Germline

Chr1:237784299

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Criteria Provided
Single Submitter

CA345413692

rs_2149354389

2 SubmittersRCV002557515 RCV001814322

NM_001035.3(RYR2):c.7428T>C (p.Tyr2476=)

SNV
Germline

Chr1:237648529

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA087387

rs_770823825

4 SubmittersRCV001525840 RCV003160864 RCV004007074 RCV002561261

NM_001035.3(RYR2):c.51T>C (p.Asp17=)

SNV
Germline

Chr1:237270499

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA086849

rs_373674802

3 SubmittersRCV003331172 RCV004037416 RCV002563331

NM_001035.3(RYR2):c.279T>A (p.Val93=)

SNV
Germline

Chr1:237355970

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA40009786

rs_1037732490

3 SubmittersRCV002439147 RCV003104126 RCV004804196

NM_001035.3(RYR2):c.4659C>T (p.Phe1553=)

SNV
Germline

Chr1:237602087

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086679

rs_767900430

3 SubmittersRCV002329610 RCV002563301 RCV004007196

NM_001035.3(RYR2):c.14434-5T>C

SNV
Germline

Chr1:237819031

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499214615

rs_2102824382

2 SubmittersRCV002562689 RCV003886517

NM_001035.3(RYR2):c.4626G>A (p.Ala1542=)

SNV
Germline

Chr1:237602054

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA423820752

rs_1272771676

5 SubmittersRCV001509125 RCV002564275 RCV002329648 RCV004007232 RCV005403100

NM_001035.3(RYR2):c.836C>A (p.Thr279Lys)

SNV
Germline

Chr1:237417111

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA345383834

rs_754312807

3 SubmittersRCV001524015 RCV003638789 RCV004007248

NM_001035.3(RYR2):c.4388G>A (p.Arg1463His)

SNV
Germline

Chr1:237593588

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA086602

rs_753707154

4 SubmittersRCV001525292 RCV002568091 RCV004008832 RCV005271343

NM_001035.3(RYR2):c.7222-15T>A

SNV
Germline

Chr1:237643312

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA2487424688

rs_1681763241

3 SubmittersRCV001524615 RCV002568785 RCV004008772

NM_001035.3(RYR2):c.10555-5T>G

SNV
Germline

Chr1:237723123

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA2499214595

rs_2149125350

3 SubmittersRCV001525217 RCV004008825 RCV005057480

NM_001035.3(RYR2):c.10839-8C>T

SNV
Germline

Chr1:237730252

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA2499214596

rs_2149159271

2 SubmittersRCV001524157 RCV002568056

NM_001035.3(RYR2):c.9259C>T (p.Pro3087Ser)

SNV
Germline

Chr1:237700359

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
not specified

Criteria Provided
Conflicting Classifications

CA087851

rs_777736127

4 SubmittersRCV001528412 RCV002568867 RCV003235582

NM_001232.4(CASQ2):c.737+6T>A

SNV
Germline

Chr1:115726986

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA1023810

rs_760688872

2 SubmittersRCV001595862 RCV003120645

NM_001035.3(RYR2):c.4148G>A (p.Arg1383His)

SNV
Germline

Chr1:237590980

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA086539

rs_752124839

7 SubmittersRCV001700837 RCV004008963 RCV002539688 RCV003365438

NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp)

SNV
Germline

Chr1:237614790

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA39828812

rs_1006109370

4 SubmittersRCV001755381 RCV002343837 RCV002489811 RCV003526106

NM_001035.3(RYR2):c.12752A>G (p.Asn4251Ser)

SNV
Germline

Chr1:237784464

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085228

rs_750064223

4 SubmittersRCV001757409 RCV002544167 RCV004009032

NM_001035.3(RYR2):c.7010G>T (p.Gly2337Val)

SNV
Germline

Chr1:237639096

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345395898

rs_2148727943

2 SubmittersRCV001768062 RCV005095076

NM_001035.3(RYR2):c.5254G>A (p.Gly1752Ser)

SNV
Germline

Chr1:237614382

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086859

rs_771662129

3 SubmittersRCV001755638 RCV002544195 RCV004009040

NM_001035.3(RYR2):c.10189C>T (p.Arg3397Cys)

SNV
Germline

Chr1:237709526

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084205

rs_764084155

6 SubmittersRCV001776365 RCV003120684 RCV003298995 RCV003533026 RCV004009042

NM_001035.3(RYR2):c.13957-7C>T

SNV
Germline

Chr1:237798030

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA2573051533

rs_1659470496

2 SubmittersRCV001776767 RCV003772120

NM_001035.3(RYR2):c.5336G>A (p.Ser1779Asn)

SNV
Germline

Chr1:237614464

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA086873

rs_778312204

5 SubmittersRCV001776827 RCV001806260 RCV002343845 RCV004009047 RCV002541078

NM_001035.3(RYR2):c.11621C>T (p.Thr3874Ile)

SNV
Germline

Chr1:237772075

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345407219

rs_2149314726

1 SubmittersRCV002255104

NM_001035.3(RYR2):c.9068-3T>C

SNV
Germline

Chr1:237698962

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA529553472

rs_1273937983

3 SubmittersRCV001804545 RCV003299013 RCV005095198

NM_001035.3(RYR2):c.13252A>G (p.Lys4418Glu)

SNV
Germline

Chr1:237784964

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA39828338

rs_1029442866

4 SubmittersRCV001804586 RCV002541414 RCV004804242 RCV004988758

NM_001035.3(RYR2):c.14656-13C>A

SNV
Germline

Chr1:237830517

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA2487502566

rs_1663654908

3 SubmittersRCV001804609 RCV002542389 RCV004009102

NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys)

SNV
Germline

Chr1:237784376

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085213

rs_758453646

4 SubmittersRCV001805282 RCV002541424 RCV002482337 RCV004009117

NM_001035.3(RYR2):c.6167-3C>T

SNV
Germline

Chr1:237627804

Conflicting classifications of pathogenicity

Cardiomyopathy
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA074771

rs_1327145604

3 SubmittersRCV001805714 RCV002359265 RCV002541446

NM_001035.3(RYR2):c.10212C>T (p.Ile3404=)

SNV
Germline

Chr1:237709549

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA423819503

rs_2149069969

3 SubmittersRCV001805726 RCV004009157 RCV005057635

NM_001035.3(RYR2):c.14638G>A (p.Val4880Ile)

SNV
Germline

Chr1:237828428

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345429420

rs_2102926494

1 SubmittersRCV002562193

NM_001035.3(RYR2):c.6900C>G (p.Asp2300Glu)

SNV
Germline

Chr1:237638464

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345395652

rs_2148724390

1 SubmittersRCV002552904

NM_001232.4(CASQ2):c.839-2A>G

SNV
Germline

Chr1:115705294

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA341766951

rs_1338756025

1 SubmittersRCV002549041

NM_001035.3(RYR2):c.7580T>G (p.Leu2527Trp)

SNV
Germline

Chr1:237649944

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345399118

rs_1682561583

1 SubmittersRCV002553463

NM_001035.3(RYR2):c.11321A>G (p.Gln3774Arg)

SNV
Germline

Chr1:237757772

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345427798

rs_2149266454

1 SubmittersRCV002642006

NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp)

SNV
Germline

Chr1:237445402

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA345377303

rs_374306538

2 SubmittersRCV002549075 RCV002331653

NM_006073.4(TRDN):c.604G>A (p.Ala202Thr)

SNV
Germline

Chr6:123512309

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 5
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA365568031

rs_1335196025

3 SubmittersRCV005301010 RCV002484520 RCV002557753

NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys)

SNV
Germline

Chr1:237784158

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA345413286

rs_1234449785

2 SubmittersRCV002562806 RCV005405781

NM_001035.3(RYR2):c.13798T>C (p.Phe4600Leu)

SNV
Germline

Chr1:237793882

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345418013

rs_2149388042

1 SubmittersRCV002562809

NM_001035.3(RYR2):c.13836T>G (p.Phe4612Leu)

SNV
Germline

Chr1:237793920

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345418098

rs_2149388137

1 SubmittersRCV002550308

NM_001035.3(RYR2):c.13399A>G (p.Thr4467Ala)

SNV
Germline

Chr1:237788058

Conflicting classifications of pathogenicity

Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA085364

rs_774270919

2 SubmittersRCV003533074 RCV002563457

NM_001035.3(RYR2):c.4911A>G (p.Arg1637=)

SNV
Germline

Chr1:237614039

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA423821063

rs_1251055364

3 SubmittersRCV002555318 RCV004010823 RCV005482981

NM_001232.4(CASQ2):c.1014+1G>A

SNV
Germline

Chr1:115702920

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA341766565

rs_1654250819

1 SubmittersRCV002564387

NM_001035.3(RYR2):c.12603G>T (p.Gln4201His)

SNV
Germline

Chr1:237784315

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345413730

rs_2149354441

1 SubmittersRCV002571341

NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)

SNV
Germline

Chr1:115732931

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341768994

rs_758748280

5 SubmittersRCV002550401 RCV002482548 RCV004601556 RCV003339773 RCV005603744

NM_001035.3(RYR2):c.9679C>T (p.Arg3227Cys)

SNV
Germline

Chr1:237707047

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA087943

rs_747271394

3 SubmittersRCV002555380 RCV003533051 RCV003167092

NM_001035.3(RYR2):c.13229T>C (p.Val4410Ala)

SNV
Germline

Chr1:237784941

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA085313

rs_748604898

3 SubmittersRCV002563476 RCV002386798 RCV003533076

NM_001035.3(RYR2):c.11959G>C (p.Glu3987Gln)

SNV
Germline

Chr1:237781643

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345410299

rs_794728778

1 SubmittersRCV002573405

NM_001035.3(RYR2):c.9770A>G (p.Asn3257Ser)

SNV
Germline

Chr1:237707138

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345408881

rs_1167753426

2 SubmittersRCV002386881 RCV002657673

NM_006073.4(TRDN):c.391+1G>A

SNV
Germline

Chr6:123548453

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 5
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA365568634

rs_2114436209

2 SubmittersRCV002507817 RCV002548881

NM_001035.3(RYR2):c.7213G>A (p.Glu2405Lys)

SNV
Germline

Chr1:237640994

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345396814

rs_2148739141

1 SubmittersRCV002563617

NM_006073.4(TRDN):c.1276A>G (p.Thr426Ala)

SNV
Germline

Chr6:123366180

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA365565979

rs_1040336692

2 SubmittersRCV002545493 RCV005505386

NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter)

SNV
Germline

Chr1:115702947

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA341766623

rs_767023791

1 SubmittersRCV002560503

NM_001035.3(RYR2):c.14226C>A (p.His4742Gln)

SNV
Germline

Chr1:237806211

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345423041

rs_2149437622

1 SubmittersRCV002573533

NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu)

SNV
Germline

Chr1:237772077

Likely pathogenic

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA345407225

rs_1060500137

2 SubmittersRCV003147725 RCV002579534 RCV003147726

NM_001035.3(RYR2):c.14710G>A (p.Gly4904Ser)

SNV
Germline

Chr1:237830584

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345409747

rs_2102947297

1 SubmittersRCV002573516

NM_006073.4(TRDN):c.541G>T (p.Glu181Ter)

SNV
Germline

Chr6:123516150

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 5

Criteria Provided
Multiple Submitters
No Conflicts

CA365568185

rs_1198103383

4 SubmittersRCV002344065 RCV002305635 RCV002560543 RCV005031911

NM_001035.3(RYR2):c.11444A>G (p.Glu3815Gly)

SNV
Germline

Chr1:237760996

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345430038

rs_2149277178

1 SubmittersRCV002545311

NM_001035.3(RYR2):c.14252A>T (p.Lys4751Met)

SNV
Germline

Chr1:237806237

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345423169

rs_2149437719

1 SubmittersRCV002571223

NM_001232.4(CASQ2):c.939+5G>C

SNV
Germline

Chr1:115705187

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1023689

rs_746128346

4 SubmittersRCV002370607 RCV002569140 RCV003348689

NM_001035.3(RYR2):c.6647A>G (p.Asp2216Gly)

SNV
Germline

Chr1:237633669

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345394257

rs_1328318082

1 SubmittersRCV002642075

NM_001035.3(RYR2):c.4603C>T (p.Pro1535Ser)

SNV
Germline

Chr1:237602031

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA345401534

rs_1376021262

3 SubmittersRCV002334866 RCV002555736 RCV004010851

NM_001035.3(RYR2):c.8816A>G (p.Tyr2939Cys)

SNV
Germline

Chr1:237674832

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA087731

rs_375408791

2 SubmittersRCV002449540 RCV002554175

NM_001232.4(CASQ2):c.319+1G>C

SNV
Germline

Chr1:115744827

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA341765213

rs_1459829853

1 SubmittersRCV002550446

NM_001035.3(RYR2):c.12464C>A (p.Ser4155Tyr)

SNV
Germline

Chr1:237784176

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345413376

rs_2149353940

1 SubmittersRCV002555798

NM_001035.3(RYR2):c.14542A>G (p.Ile4848Val)

SNV
Germline

Chr1:237819144

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA345426512

rs_1363298408

2 SubmittersRCV002548898 RCV004804346

NM_001035.3(RYR2):c.6749A>T (p.Asn2250Ile)

SNV
Unknown

Chr1:237634949

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345394728

rs_2148707460

1 SubmittersRCV002074452

NM_001035.3(RYR2):c.14737C>T (p.His4913Tyr)

SNV
Unknown

Chr1:237830611

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345409812

rs_2102947618

1 SubmittersRCV002074457

NM_006073.4(TRDN):c.1683T>C (p.Val561=)

SNV
Germline

Chr6:123271176

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3983806

rs_777229118

2 SubmittersRCV002555436 RCV005505407

NM_001232.4(CASQ2):c.784-5T>C

SNV
Germline

Chr1:115717899

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2573130558

rs_2101068877

2 SubmittersRCV003104180 RCV004990694

NM_001035.3(RYR2):c.11146-15G>T

SNV
Germline

Chr1:237756273

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA2487471285

rs_1692945934

2 SubmittersRCV003025384 RCV004005372

NM_001035.3(RYR2):c.11118T>C (p.Asp3706=)

SNV
Germline

Chr1:237742322

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA423821318

rs_1691685791

3 SubmittersRCV002427680 RCV004005440 RCV003053419

NM_001035.3(RYR2):c.13783-4G>A

SNV
Germline

Chr1:237793863

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA529564835

rs_1364773484

3 SubmittersRCV002382473 RCV004005526 RCV003101215

NM_001035.3(RYR2):c.9384G>A (p.Val3128=)

SNV
Germline

Chr1:237701994

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA423818848

rs_1225100895

2 SubmittersRCV003289458 RCV003070607

NM_001035.3(RYR2):c.6793-4G>A

SNV
Germline

Chr1:237638353

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087226

rs_568936247

3 SubmittersRCV002363671 RCV003061777 RCV004005473

NM_001035.3(RYR2):c.12344T>G (p.Leu4115Arg)

SNV
Germline

Chr1:237784056

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA345413013

rs_2527781764

2 SubmittersRCV003101714 RCV004982976

NM_001035.3(RYR2):c.3361G>A (p.Gly1121Ser)

SNV
Germline

Chr1:237566713

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA086356

rs_199682282

2 SubmittersRCV002321088 RCV003775600

NM_001035.3(RYR2):c.4381A>G (p.Arg1461Gly)

SNV
Germline

Chr1:237593581

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA39805676

rs_778794737

3 SubmittersRCV002333584 RCV005401960 RCV003102575

NM_001035.3(RYR2):c.5716-5C>G

SNV
Germline

Chr1:237617281

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA529912828

rs_1180981385

2 SubmittersRCV005058438 RCV002347660

NM_001035.3(RYR2):c.796G>T (p.Ala266Ser)

SNV
Germline

Chr1:237417071

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087548

rs_373326624

3 SubmittersRCV002412390 RCV003526166 RCV004005760

NM_001035.3(RYR2):c.8370A>T (p.Glu2790Asp)

SNV
Germline

Chr1:237660881

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345401885

rs_1472953017

2 SubmittersRCV002434777 RCV003776496

NM_001035.3(RYR2):c.8238A>G (p.Ile2746Met)

SNV
Germline

Chr1:237660014

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA39805230

rs_371604667

4 SubmittersRCV002428026 RCV003099879 RCV003228076 RCV004804454

NM_001035.3(RYR2):c.7808C>G (p.Ala2603Gly)

SNV
Germline

Chr1:237651485

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087499

rs_752607318

3 SubmittersRCV002409929 RCV003638861 RCV004804452

NM_001035.3(RYR2):c.12717G>C (p.Leu4239=)

SNV
Germline

Chr1:237784429

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA424032227

rs_2527790378

3 SubmittersRCV002376438 RCV003526169 RCV004007276

NM_001035.3(RYR2):c.8443G>A (p.Val2815Met)

SNV
Germline

Chr1:237666518

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
not specified

Criteria Provided
Conflicting Classifications

CA087628

rs_764241934

4 SubmittersRCV002447516 RCV003443048 RCV003526168 RCV005239406

NM_006073.4(TRDN):c.1832-4C>T

SNV
Germline

Chr6:123259666

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA2580074838

rs_539547575

2 SubmittersRCV002412660 RCV003097284

NM_001035.3(RYR2):c.261G>T (p.Glu87Asp)

SNV
Germline

Chr1:237330970

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345654724

rs_1408696693

2 SubmittersRCV002452922 RCV005098220

NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)

SNV
Germline

Chr1:115768343

Pathogenic

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA341767037

rs_2526105965

2 SubmittersRCV002417068 RCV003526193

NM_006073.4(TRDN):c.2T>C (p.Met1Thr)

SNV
Germline

Chr6:123636774

Pathogenic

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA365568008

rs_1209337990

2 SubmittersRCV002435645 RCV003102962

NM_001035.3(RYR2):c.11244A>G (p.Lys3748=)

SNV
Germline

Chr1:237756386

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA423821862

rs_2527395336

2 SubmittersRCV002435535 RCV005098377

NM_001035.3(RYR2):c.11863C>A (p.Gln3955Lys)

SNV
Germline

Chr1:237778753

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345409505

rs_1558393802

1 SubmittersRCV002471405

NM_001035.3(RYR2):c.139T>C (p.Cys47Arg)

SNV
Germline

Chr1:237270587

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345654453

rs_2528051422

1 SubmittersRCV002471814

NM_001035.3(RYR2):c.1244C>T (p.Thr415Ile)

SNV
Germline

Chr1:237445474

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345377764

rs_1288202574

1 SubmittersRCV002471915

NM_001035.3(RYR2):c.12313C>T (p.Leu4105Phe)

SNV
Germline

Chr1:237784025

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA345412943

rs_1413565928

2 SubmittersRCV002472126 RCV004593035

NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys)

SNV
Germline

Chr1:237640956

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA087314

rs_772220753

2 SubmittersRCV002472263

NM_001035.3(RYR2):c.6082C>T (p.Arg2028Cys)

SNV
Germline

Chr1:237625720

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA39838086

rs_767787774

2 SubmittersRCV002510111 RCV005098485

NM_001035.3(RYR2):c.10078A>G (p.Thr3360Ala)

SNV
Germline

Chr1:237709034

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA084141

rs_772763388

2 SubmittersRCV004009337 RCV003071374

NM_001035.3(RYR2):c.6023-14T>G

SNV
Germline

Chr1:237625647

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA2487417023

rs_1679568664

3 SubmittersRCV003056880 RCV003533335 RCV004009318

NM_001035.3(RYR2):c.8437-5T>C

SNV
Germline

Chr1:237666507

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA529548246

rs_760890029

2 SubmittersRCV003060351 RCV005473310

NM_001035.3(RYR2):c.4321G>A (p.Val1441Ile)

SNV
Germline

Chr1:237593521

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided
Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA086598

rs_376638283

4 SubmittersRCV003058404 RCV003138467 RCV004070141 RCV004804544

NM_006073.4(TRDN):c.1624+1G>A

SNV
Germline

Chr6:123273336

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA147231745

rs_748011906

2 SubmittersRCV003075105 RCV003377861

NM_001035.3(RYR2):c.6602G>A (p.Cys2201Tyr)

SNV
Germline

Chr1:237633624

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345394052

rs_2546926703

1 SubmittersRCV003074912

NM_001035.3(RYR2):c.6056G>A (p.Gly2019Glu)

SNV
Germline

Chr1:237625694

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA087041

rs_776327537

3 SubmittersRCV003086568 RCV004661565 RCV005403287

NM_001035.3(RYR2):c.12475C>A (p.Gln4159Lys)

SNV
Germline

Chr1:237784187

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345413416

rs_2527784909

1 SubmittersRCV003084856

NM_001035.3(RYR2):c.9522T>A (p.His3174Gln)

SNV
Germline

Chr1:237705285

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087911

rs_776330796

2 SubmittersRCV002595481 RCV004009453

NM_001035.3(RYR2):c.14807A>G (p.Gln4936Arg)

SNV
Germline

Chr1:237831564

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA345409992

rs_2528487643

2 SubmittersRCV002592412 RCV004009463

NM_001035.3(RYR2):c.12534C>T (p.Asn4178=)

SNV
Germline

Chr1:237784246

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA424032301

rs_1450929982

3 SubmittersRCV002616340 RCV004009477 RCV003294554

NM_001035.3(RYR2):c.4733C>T (p.Pro1578Leu)

SNV
Germline

Chr1:237610811

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345402323

rs_765351308

3 SubmittersRCV003162035 RCV004009501 RCV002650999

NM_001035.3(RYR2):c.490C>T (p.Pro164Ser)

SNV
Germline

Chr1:237377349

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345375479

rs_764772142

1 SubmittersRCV002651430

NM_001035.3(RYR2):c.11583G>T (p.Gln3861His)

SNV
Germline

Chr1:237772037

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345407043

rs_1014561815

1 SubmittersRCV002651432

NM_001035.3(RYR2):c.3107C>G (p.Thr1036Ser)

SNV
Germline

Chr1:237550584

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA071029

rs_772963051

2 SubmittersRCV004804573 RCV002664251

NM_001232.4(CASQ2):c.737+1G>A

SNV
Germline

Chr1:115726991

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1023812

rs_753636068

2 SubmittersRCV002634308 RCV005011096

NM_001035.3(RYR2):c.12845C>T (p.Ala4282Val)

SNV
Germline

Chr1:237784557

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA085248

rs_754921908

4 SubmittersRCV002633862 RCV004009510 RCV005405972 RCV005402006

NM_001035.3(RYR2):c.8741C>T (p.Thr2914Met)

SNV
Germline

Chr1:237674757

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA087719

rs_766484260

3 SubmittersRCV002640705 RCV004072020 RCV005402007

NM_001035.3(RYR2):c.7010G>A (p.Gly2337Glu)

SNV
Germline

Chr1:237639096

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA345395897

rs_2148727943

2 SubmittersRCV002592767 RCV005409886

NM_001035.3(RYR2):c.12811G>A (p.Val4271Ile)

SNV
Germline

Chr1:237784523

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA085241

rs_760015622

2 SubmittersRCV002590539 RCV005473191

NM_001035.3(RYR2):c.12322C>T (p.His4108Tyr)

SNV
Germline

Chr1:237784034

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345412963

rs_1250457347

1 SubmittersRCV002649377

NM_006073.4(TRDN):c.1087G>A (p.Val363Ile)

SNV
Germline

Chr6:123393642

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3984134

rs_768926663

2 SubmittersRCV002690620 RCV003167650

NM_006073.4(TRDN):c.1672+6T>C

SNV
Germline

Chr6:123272958

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 5

Criteria Provided
Conflicting Classifications

CA3983818

rs_755974871

2 SubmittersRCV002716041 RCV003741322

NM_001035.3(RYR2):c.9784G>A (p.Glu3262Lys)

SNV
Germline

Chr1:237707152

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA087960

rs_752022110

2 SubmittersRCV002750307 RCV005403229

NM_001035.3(RYR2):c.14475A>T (p.Gly4825=)

SNV
Germline

Chr1:237819077

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA424051783

rs_1468733041

2 SubmittersRCV002795870 RCV004007613

NM_001035.3(RYR2):c.12521T>A (p.Phe4174Tyr)

SNV
Germline

Chr1:237784233

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345413538

rs_2527785804

1 SubmittersRCV002807315

NM_001035.3(RYR2):c.6632A>C (p.Gln2211Pro)

SNV
Germline

Chr1:237633654

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345394195

rs_2546926824

1 SubmittersRCV002846703

NM_006073.4(TRDN):c.451C>T (p.Gln151Ter)

SNV
Germline

Chr6:123530539

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA365568467

rs_2534401993

1 SubmittersRCV002846754

NM_001035.3(RYR2):c.4375T>C (p.Leu1459=)

SNV
Germline

Chr1:237593575

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA423820176

rs_2546638824

2 SubmittersRCV002866150 RCV004007639

NM_001035.3(RYR2):c.1070G>A (p.Gly357Asp)

SNV
Germline

Chr1:237441383

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA084481

rs_762480374

2 SubmittersRCV002885662 RCV004007656

NM_001035.3(RYR2):c.8872C>A (p.Gln2958Lys)

SNV
Germline

Chr1:237678089

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA345403668

rs_1444337902

3 SubmittersRCV002919036 RCV004007693 RCV005403250

NM_001035.3(RYR2):c.48T>C (p.Thr16=)

SNV
Germline

Chr1:237042569

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA086760

rs_768458725

2 SubmittersRCV002909890 RCV003533315

NM_001035.3(RYR2):c.1199A>C (p.Asp400Ala)

SNV
Germline

Chr1:237445429

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345377494

rs_2528379037

1 SubmittersRCV002963374

NM_001232.4(CASQ2):c.319+2T>G

SNV
Germline

Chr1:115744826

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA341765204

rs_2526031776

2 SubmittersRCV003020425 RCV003367941

NM_001035.3(RYR2):c.12647C>T (p.Ala4216Val)

SNV
Germline

Chr1:237784359

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA085207

rs_375950722

2 SubmittersRCV003021898 RCV004804534

NM_001035.3(RYR2):c.6916G>T (p.Val2306Phe)

SNV
Germline

Chr1:237638480

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345395687

rs_794728746

1 SubmittersRCV003026117

NM_001035.3(RYR2):c.7256T>C (p.Ile2419Thr)

SNV
Germline

Chr1:237643361

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345396929

rs_1573300872

1 SubmittersRCV003023553

NM_001035.3(RYR2):c.8849A>G (p.Lys2950Arg)

SNV
Germline

Chr1:237678066

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA087750

rs_780609314

2 SubmittersRCV003029868 RCV005403269

NM_001035.3(RYR2):c.14311G>T (p.Val4771Phe)

SNV
Germline

Chr1:237808913

Likely pathogenic

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA345424024

rs_794728804

2 SubmittersRCV004983280 RCV003043629

NM_001035.3(RYR2):c.12268C>G (p.Pro4090Ala)

SNV
Germline

Chr1:237783980

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345412850

rs_794728782

1 SubmittersRCV003025288

NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe)

SNV
Unknown

Chr1:237778695

Likely pathogenic

Arrhythmogenic right ventricular dysplasia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Criteria Provided
Single Submitter

CA345409132

rs_2527697526

1 SubmittersRCV003148098 RCV003148099 RCV003148100

NM_001035.3(RYR2):c.5285A>G (p.Gln1762Arg)

SNV
Germline

Chr1:237614413

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA345404695

rs_772846797

3 SubmittersRCV003216302 RCV003525376 RCV004009674

NM_001035.3(RYR2):c.14297A>C (p.Gln4766Pro)

SNV
Germline

Chr1:237806282

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345423407

rs_2528138701

1 SubmittersRCV003225661

NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)

SNV
Germline

Chr1:115701413

Pathogenic

Cardiovascular phenotype
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1023630

rs_529562535

2 SubmittersRCV003301708 RCV003777184

NM_001035.3(RYR2):c.567A>C (p.Glu189Asp)

SNV
Germline

Chr1:237377426

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345375724

rs_1415931588

1 SubmittersRCV003525711

NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter)

SNV
Germline

Chr1:115701359

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA341766402

rs_786205792

1 SubmittersRCV003526716

NM_001035.3(RYR2):c.12272C>G (p.Ala4091Gly)

SNV
Germline

Chr1:237783984

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345412858

rs_794728783

1 SubmittersRCV003526956

NM_006073.4(TRDN):c.611-1G>A

SNV
Germline

Chr6:123503902

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA365567953

rs_1778806259

1 SubmittersRCV003527069

NM_001035.3(RYR2):c.14897T>C (p.Leu4966Pro)

SNV
Germline

Chr1:237832640

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345411179

rs_2528507871

1 SubmittersRCV003526768

NM_001035.3(RYR2):c.195C>T (p.Cys65=)

SNV
Germline

Chr1:237330904

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA40003267

rs_372132157

2 SubmittersRCV003527157 RCV004011408

NM_001035.3(RYR2):c.11040-14C>A

SNV
Germline

Chr1:237733691

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA2651212549

rs_1398488595

2 SubmittersRCV003527080 RCV004011402

NM_001035.3(RYR2):c.295-9C>A

SNV
Germline

Chr1:237364349

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA086254

rs_760744943

2 SubmittersRCV003527146 RCV003531517

NM_006073.4(TRDN):c.232+2T>C

SNV
Germline

Chr6:123570921

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA365569007

rs_1554258777

2 SubmittersRCV003527371 RCV004369325

NM_001035.3(RYR2):c.7420A>G (p.Arg2474Gly)

SNV
Germline

Chr1:237648521

Pathogenic/Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA345398292

rs_2547025987

2 SubmittersRCV003527196 RCV004701725

NM_001035.3(RYR2):c.1814G>T (p.Gly605Val)

SNV
Germline

Chr1:237491911

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345388337

rs_1663391660

1 SubmittersRCV003527236

NM_001035.3(RYR2):c.12511C>G (p.Gln4171Glu)

SNV
Germline

Chr1:237784223

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345413510

rs_2527785680

1 SubmittersRCV003527493

NM_001035.3(RYR2):c.798T>C (p.Ala266=)

SNV
Germline

Chr1:237417073

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA423810358

rs_1245793918

2 SubmittersRCV003526285 RCV004369420

NM_001232.4(CASQ2):c.939+1G>A

SNV
Germline

Chr1:115705191

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA341766740

rs_905985075

1 SubmittersRCV003526235

NM_001035.3(RYR2):c.13798T>A (p.Phe4600Ile)

SNV
Germline

Chr1:237793882

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345418011

rs_2149388042

1 SubmittersRCV003526316

NM_001035.3(RYR2):c.12494T>C (p.Val4165Ala)

SNV
Germline

Chr1:237784206

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA345413470

rs_2527785359

2 SubmittersRCV003526337 RCV005435229

NM_006073.4(TRDN):c.424G>T (p.Glu142Ter)

SNV
Germline

Chr6:123547340

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA365568547

rs_2534478800

1 SubmittersRCV003526420

NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter)

SNV
Germline

Chr1:115705285

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA341766928

rs_764692110

1 SubmittersRCV003639505

NM_001035.3(RYR2):c.3840C>T (p.Ser1280=)

SNV
Germline

Chr1:237590672

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA072175

rs_752970338

2 SubmittersRCV003639716 RCV004011685

NM_001035.3(RYR2):c.1199A>G (p.Asp400Gly)

SNV
Germline

Chr1:237445429

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345377496

rs_2528379037

1 SubmittersRCV003639640

NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter)

SNV
Germline

Chr1:115768337

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA341767022

rs_761862949

1 SubmittersRCV003639646

NM_001232.4(CASQ2):c.3G>A (p.Met1Ile)

SNV
Germline

Chr1:115768539

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA341767474

rs_1334439048

1 SubmittersRCV003639703

NM_001035.3(RYR2):c.13938C>A (p.Asp4646Glu)

SNV
Germline

Chr1:237795313

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345418616

rs_1378818859

1 SubmittersRCV003639940

NM_001035.3(RYR2):c.6898G>C (p.Asp2300His)

SNV
Germline

Chr1:237638462

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345395647

rs_2546959528

1 SubmittersRCV003640103

NM_001035.3(RYR2):c.7277T>G (p.Leu2426Arg)

SNV
Germline

Chr1:237643382

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345396973

rs_28677142

1 SubmittersRCV003638194

NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter)

SNV
Germline

Chr1:115732970

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA341769082

rs_2464907770

1 SubmittersRCV003638196

NM_001035.3(RYR2):c.6873C>A (p.Asn2291Lys)

SNV
Germline

Chr1:237638437

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345395594

rs_2546959354

1 SubmittersRCV003638385

NM_001035.3(RYR2):c.10626A>G (p.Ser3542=)

SNV
Germline

Chr1:237723199

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA423820357

rs_1429744029

2 SubmittersRCV003638481 RCV004005822

NM_001232.4(CASQ2):c.784-1G>A

SNV
Germline

Chr1:115717895

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA1023736

rs_773769524

1 SubmittersRCV003639268

NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter)

SNV
Germline

Chr1:115744903

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA341765536

rs_2526032244

1 SubmittersRCV003639272

NM_001035.3(RYR2):c.9368-11T>C

SNV
Germline

Chr1:237701967

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA087878

rs_747270146

2 SubmittersRCV003639274 RCV004005910

NM_001035.3(RYR2):c.14473G>A (p.Gly4825Arg)

SNV
Germline

Chr1:237819075

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

CA345426100

rs_2528295554

1 SubmittersRCV003639361

NM_001232.4(CASQ2):c.420+1G>A

SNV
Germline

Chr1:115740727

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA29606183

rs_368728701

2 SubmittersRCV003854512 RCV005311086

NM_001035.3(RYR2):c.295-3C>T

SNV
Germline

Chr1:237364355

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia

Criteria Provided
Conflicting Classifications

CA2574459279

rs_2529740615

2 SubmittersRCV003854126 RCV004006128

NM_001035.3(RYR2):c.6000T>G (p.His2000Gln)

SNV
Germline

Chr1:237623848

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA087017

rs_369182325

2 SubmittersRCV003852271 RCV004801419

NM_001035.3(RYR2):c.7210C>T (p.Pro2404Ser)

SNV
Germline

Chr1:237640991

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345396810

rs_1318711262

2 SubmittersRCV004014882 RCV005103260

NM_001035.3(RYR2):c.8224A>G (p.Ile2742Val)

SNV
Germline

Chr1:237660000

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Conflicting Classifications

CA345401339

rs_1438045891

2 SubmittersRCV004011934 RCV005103269

NM_001232.4(CASQ2):c.320-2A>G

SNV
Germline

Chr1:115740830

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA341764557

rs_2526018764

2 SubmittersRCV004555775 RCV005358111

NM_001035.3(RYR2):c.12457A>C (p.Ser4153Arg)

SNV
Germline

Chr1:237784169

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

rs_1273246817

1 SubmittersRCV004595233

NM_001035.3(RYR2):c.8740A>G (p.Thr2914Ala)

SNV
Germline

Chr1:237674756

Conflicting classifications of pathogenicity

Condition: not provided
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004772399 RCV005061406 RCV005475566

NM_001035.3(RYR2):c.11821T>C (p.Trp3941Arg)

SNV
Germline

Chr1:237778711

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV004781987

NM_001035.3(RYR2):c.10835C>T (p.Pro3612Leu)

SNV
Germline

Chr1:237727196

Likely pathogenic

Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV004797120

NM_001035.3(RYR2):c.14308A>G (p.Thr4770Ala)

SNV
Germline

Chr1:237808910

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV004796522

NM_001035.3(RYR2):c.6893A>G (p.Tyr2298Cys)

SNV
Germline

Chr1:237638457

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005000617

NM_001035.3(RYR2):c.7169C>T (p.Thr2390Ile)

SNV
Germline

Chr1:237640950

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005000625

NM_001035.3(RYR2):c.12521T>C (p.Phe4174Ser)

SNV
Germline

Chr1:237784233

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005002083

NM_001035.3(RYR2):c.6973A>G (p.Ile2325Val)

SNV
Germline

Chr1:237639059

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005113863

NM_001035.3(RYR2):c.12431G>T (p.Arg4144Leu)

SNV
Germline

Chr1:237784143

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005106242

NM_001035.3(RYR2):c.14012G>A (p.Gly4671Asp)

SNV
Germline

Chr1:237798092

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005106250

NM_006073.4(TRDN):c.23-2A>G

SNV
Germline

Chr6:123571134

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005145243

NM_001232.4(CASQ2):c.421-2A>T

SNV
Germline

Chr1:115738337

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005154402

NM_006073.4(TRDN):c.991+1G>A

SNV
Germline

Chr6:123438943

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005187284

NM_006073.4(TRDN):c.485-2A>T

SNV
Germline

Chr6:123516208

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005203223

NM_001232.4(CASQ2):c.172G>T (p.Glu58Ter)

SNV
Germline

Chr1:115768370

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005200956

NM_001035.3(RYR2):c.1255A>T (p.Ile419Phe)

SNV
Germline

Chr1:237445485

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005198097

NM_001035.3(RYR2):c.12259T>C (p.Phe4087Leu)

SNV
Germline

Chr1:237783971

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005234138

NM_006073.4(TRDN):c.1246+1G>T

SNV
Germline

Chr6:123377715

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 5
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005356899

NM_006073.4(TRDN):c.1784-1G>T

SNV
Germline

Chr6:123265339

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 5
Catecholaminergic polymorphic ventricular tachycardia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005356900

NM_001035.3(RYR2):c.622C>T (p.Gln208Ter)

SNV
Germline

Chr1:237387326

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 1

No Assertion Criteria Provided

1 SubmittersRCV005622862