Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)	SNV Germline	Chr3:32159096	Conflicting classifications of pathogenicity	Brugada syndrome 2 Condition: not provided Death in infancy Cardiovascular phenotype not specified Brugada syndrome Brugada syndrome (shorter-than-normal QT interval) Long QT syndrome GPD1L-related disorder	Criteria Provided Conflicting Classifications	CA334813	rs_72552291	14 SubmittersRCV000000822 RCV000170923 RCV000234995 RCV000244771 RCV000614172 RCV000638732 RCV001192631 RCV003318331 RCV004757091
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)	SNV Germline	Chr3:32140231	Conflicting classifications of pathogenicity	Brugada syndrome 2 SUDDEN INFANT DEATH SYNDROME Long QT syndrome Primary familial hypertrophic cardiomyopathy Condition: not provided not specified Cardiovascular phenotype Hypertrophic cardiomyopathy Brugada syndrome GPD1L-related disorder	Criteria Provided Conflicting Classifications	CA213881	rs_72552293	18 SubmittersRCV000000824 RCV000029945 RCV000157243 RCV000203752 RCV000170920 RCV000620285 RCV000852958 RCV001081825 RCV003952333
NM_000218.3(KCNQ1):c.532G>C (p.Ala178Pro)	SNV Germline	Chr11:2570682	Pathogenic	Long QT syndrome 1 Congenital long QT syndrome	No Assertion Criteria Provided	CA007364	rs_120074177	2 SubmittersRCV000003260 RCV000057693
NM_000218.3(KCNQ1):c.916G>A (p.Gly306Arg)	SNV Germline	Chr11:2572981	Pathogenic	Long QT syndrome 1 Congenital long QT syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA008634	rs_120074181	6 SubmittersRCV000003262 RCV000057797 RCV000182132 RCV005403712
NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile)	SNV Germline	Chr11:2583448	Pathogenic/Likely pathogenic	Long QT syndrome 1 Congenital long QT syndrome Condition: not provided Cardiac arrhythmia Cardiovascular phenotype Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008759	rs_120074182	8 SubmittersRCV000003263 RCV000057808 RCV000182136 RCV001841222 RCV002444417 RCV001386969
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)	SNV Germline	Chr11:2570719	Pathogenic/Likely pathogenic	Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA007542	rs_120074178	16 SubmittersRCV000003264 RCV000046088 RCV000057706 RCV000182086 RCV000588393 RCV001841223
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met)	SNV Germline	Chr11:2572089	Pathogenic	Long QT syndrome 1 Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype Atrial fibrillation, familial, 3 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome Short QT syndrome type 2	Reviewed By Expert Panel	CA008122	rs_120074179	11 SubmittersRCV000003265 RCV000057749 RCV000182109 RCV000190212 RCV000619506 RCV005862693
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe)	SNV Germline	Chr11:2572882	Likely pathogenic	Long QT syndrome 1 Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome	Reviewed By Expert Panel	CA008331	rs_120074180	11 SubmittersRCV000003266 RCV000057769 RCV000182120 RCV000620696 RCV001192509
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu)	SNV Germline	Chr11:2583535	Pathogenic	Long QT syndrome 1/2, digenic Long QT syndrome 1 Congenital long QT syndrome Long QT syndrome Condition: not provided Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA004880	rs_12720459	10 SubmittersRCV000003268 RCV000003267 RCV000057526 RCV000045932 RCV000182154 RCV000621485 RCV003591617
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val)	SNV Germline	Chr11:2583535	Pathogenic	Long QT syndrome 1 Condition: not provided Long QT syndrome Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA004897	rs_12720459	13 SubmittersRCV000003269 RCV000057528 RCV000171124 RCV000619686 RCV006547484
NM_000218.3(KCNQ1):c.1034G>A (p.Gly345Glu)	SNV Germline	Chr11:2585213	Pathogenic/Likely pathogenic	Long QT syndrome 1 Congenital long QT syndrome Long QT syndrome Condition: not provided Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA005061	rs_120074183	5 SubmittersRCV000003270 RCV000057536 RCV002512696 RCV005241333 RCV005402794
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser)	SNV Germline	Chr11:2583453	Pathogenic	Long QT syndrome 1 Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA008773	rs_120074184	12 SubmittersRCV000003271 RCV000057810 RCV000182137 RCV000852434 RCV002371756
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys)	SNV Germline	Chr11:2776032	Pathogenic	Long QT syndrome 1 Congenital long QT syndrome Long QT syndrome Condition: not provided Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA006141	rs_120074185	13 SubmittersRCV000003274 RCV000057613 RCV000046011 RCV000182211 RCV000618290 RCV001841224
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser)	SNV Germline	Chr11:2572979	Pathogenic/Likely pathogenic	Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008623	rs_120074186	6 SubmittersRCV000003275 RCV000057796 RCV000182130 RCV000622153 RCV001385529
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)	SNV Germline	Chr11:2572963	Conflicting classifications of pathogenicity	Long QT syndrome 1 Condition: not provided not specified Cardiovascular phenotype Long QT syndrome Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA008554	rs_120074187	15 SubmittersRCV000003276 RCV000057789 RCV000182128 RCV000621158 RCV000541920 RCV001102803 RCV001104722 RCV001841225
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	SNV Germline	Chr11:2768881	Likely pathogenic	Long QT syndrome 1, recessive Long QT syndrome Condition: not provided Cardiovascular phenotype Congenital long QT syndrome Long QT syndrome 1 KCNQ1-related disorder not specified Cardiac arrhythmia Jervell and Lange-Nielsen syndrome 1 Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Monogenic hearing loss	Reviewed By Expert Panel	CA005894	rs_17215500	33 SubmittersRCV000003279 RCV000148548 RCV000182196 RCV000251958 RCV000614524 RCV000515748 RCV000779058 RCV000999897 RCV001841226 RCV001847566 RCV005644471 RCV005862694
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr)	SNV Germline	Chr11:2768902	Pathogenic/Likely pathogenic	Long QT syndrome 1, recessive Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA005949	rs_120074188	5 SubmittersRCV000003280 RCV000057600 RCV000182202 RCV000622131 RCV001851605
NM_000218.3(KCNQ1):c.922-1G>C	SNV Germline	Chr11:2583434	Pathogenic	Long QT syndrome 1 Long QT syndrome	Criteria Provided Single Submitter	CA008676	rs_387906290	2 SubmittersRCV000003282 RCV002512697
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)	SNV Germline	Chr11:2583545	Pathogenic	Long QT syndrome 1 Long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome 2 Beckwith-Wiedemann syndrome Congenital long QT syndrome	Reviewed By Expert Panel	CA005005	rs_1800171	17 SubmittersRCV000003283 RCV000045941 RCV000182159 RCV000621184 RCV000498423 RCV002247243 RCV004017223
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)	SNV Germline	Chr11:2778003	Pathogenic	Jervell and Lange-Nielsen syndrome 1 Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome 1 KCNQ1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA006328	rs_120074189	9 SubmittersRCV000003286 RCV000046026 RCV000057632 RCV000182221 RCV000619349 RCV003319300 RCV004732528
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)	SNV Germline	Chr11:2778009	Pathogenic	Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Cardiac arrhythmia	Reviewed By Expert Panel	CA006347	rs_120074190	8 SubmittersRCV000003288 RCV000003289 RCV000057633 RCV000182223 RCV000622145 RCV000699476 RCV001258106 RCV001841227
NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu)	SNV Germline	Chr11:2445448	Likely pathogenic	Long QT syndrome 1 Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA006854	rs_120074191	3 SubmittersRCV000003290 RCV000057662 RCV001349040
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)	SNV Germline	Chr11:2777990	Conflicting classifications of pathogenicity	Acquired susceptibility to long QT syndrome 1 Long QT syndrome 1 Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Atrial fibrillation, familial, 3 Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Beckwith-Wiedemann syndrome KCNQ1-related disorder Long QT syndrome Cardiovascular phenotype Cardiac arrhythmia Long QT syndrome 1 Atrial fibrillation, familial, 3 Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1	Criteria Provided Conflicting Classifications	CA006297	rs_17221854	12 SubmittersRCV000003292 RCV000003291 RCV000057628 RCV000182219 RCV000762837 RCV001824559 RCV001851606 RCV004018545 RCV003591618 RCV005364866
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)	SNV Germline	Chr11:2572870	Pathogenic	Long QT syndrome 1 Congenital long QT syndrome Condition: not provided Long QT syndrome Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Long QT syndrome 1 Short QT syndrome type 2 not specified Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA008278	rs_120074193	14 SubmittersRCV000003294 RCV000057765 RCV000182118 RCV000477568 RCV000762834 RCV001002562 RCV002408447 RCV005402795
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp)	SNV Germline	Chr11:2572871	Pathogenic/Likely pathogenic	Long QT syndrome 1 Congenital long QT syndrome Long QT syndrome Condition: not provided Cardiovascular phenotype KCNQ1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA008292	rs_120074194	10 SubmittersRCV000003295 RCV000057766 RCV000046133 RCV000182119 RCV002415391 RCV004540987
NM_000218.3(KCNQ1):c.728G>C (p.Arg243Pro)	SNV Germline	Chr11:2572057	Pathogenic	Long QT syndrome 1/2, digenic Congenital long QT syndrome	No Assertion Criteria Provided	CA008027	rs_120074196	2 SubmittersRCV000003300 RCV000057743
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu)	SNV Germline	Chr7:92040690	Conflicting classifications of pathogenicity	Long QT syndrome 11 Long QT syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA253635	rs_121908566	5 SubmittersRCV000006241 RCV000631713 RCV000756981 RCV002336077
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)	SNV Germline	Chr21:34370639	Conflicting classifications of pathogenicity; risk factor	Long QT syndrome 6 Congenital long QT syndrome Condition: not provided KCNE2-related disorder Cardiac arrhythmia Cardiovascular phenotype Long QT syndrome not specified	Criteria Provided Conflicting Classifications	CA253741	rs_74315447	11 SubmittersRCV000006425 RCV000058360 RCV000212497 RCV000407848 RCV001841228 RCV002399310 RCV004772828 RCV005237356
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)	SNV Germline	Chr21:34370648	Conflicting classifications of pathogenicity	Long QT syndrome 6 Condition: not provided Cardiovascular phenotype Atrial fibrillation, familial, 4 Cardiac arrhythmia KCNE2-related disorder	Criteria Provided Conflicting Classifications	CA218805	rs_74315448	18 SubmittersRCV000006426 RCV000058362 RCV000241603 RCV001139401 RCV001841229 RCV004532298
NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys)	SNV Germline	Chr21:34370557	Conflicting classifications of pathogenicity	Atrial fibrillation, familial, 4 Atrial fibrillation Long QT syndrome Primary familial hypertrophic cardiomyopathy Atrial fibrillation, familial, 4 Long QT syndrome 6 Condition: not provided Long QT syndrome 6 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA117924	rs_74315449	8 SubmittersRCV000006427 RCV000058377 RCV000157256 RCV000490451 RCV000756281 RCV001080271 RCV004018576
NM_172201.2(KCNE2):c.178T>C (p.Phe60Leu)	SNV Germline	Chr21:34370656	Pathogenic	Long QT syndrome 3/6, digenic Congenital long QT syndrome	No Assertion Criteria Provided	CA117926	rs_16991654	2 SubmittersRCV000006428 RCV000058363
NM_033337.3(CAV3):c.314C>T (p.Pro105Leu)	SNV Germline	Chr3:8745725	Pathogenic	Rippling muscle disease 2 Condition: not provided Long QT syndrome	Criteria Provided Single Submitter	CA119419	rs_116840805	3 SubmittersRCV000008765 RCV000024379 RCV005089211
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)	SNV Germline	Chr3:8745627	Conflicting classifications of pathogenicity	Rippling muscle disease 2 Condition: not provided not specified Limb-girdle muscular dystrophy Cardiovascular phenotype Hypertrophic cardiomyopathy 1 Elevated circulating creatine kinase concentration Distal myopathy, Tateyama type Long QT syndrome 9 Rippling muscle disease 2 Long QT syndrome 1 Cardiomyopathy Long QT syndrome Caveolinopathy CAV3-related disorder	Criteria Provided Conflicting Classifications	CA175393	rs_116840776	20 SubmittersRCV000008769 RCV000024381 RCV000150236 RCV000171752 RCV000249612 RCV000477819 RCV000987087 RCV000769171 RCV001084478 RCV001144018 RCV003952349
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)	SNV Germline	Chr3:8745547	Pathogenic/Likely pathogenic	Rippling muscle disease 2 Elevated circulating creatine kinase concentration Condition: not provided Long QT syndrome Cardiovascular phenotype Myopathy with tubular aggregates	Criteria Provided Multiple Submitters No Conflicts	CA119428	rs_116840789	10 SubmittersRCV000008772 RCV000008774 RCV000024382 RCV001384920 RCV002381245 RCV004585993
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)	SNV Germline	Chr3:8745688	Conflicting classifications of pathogenicity	Rippling muscle disease 2, autosomal recessive Condition: not provided Long QT syndrome Rippling muscle disease 2 Cardiovascular phenotype Hypertrophic cardiomyopathy 1 Rippling muscle disease 2 Elevated circulating creatine kinase concentration Long QT syndrome 9 Distal myopathy, Tateyama type Caveolinopathy Hypertrophic cardiomyopathy 1	Criteria Provided Conflicting Classifications	CA119440	rs_28936686	15 SubmittersRCV000008780 RCV000024388 RCV000234612 RCV000826098 RCV000622234 RCV005031426 RCV005357099 RCV005409597
NM_033337.3(CAV3):c.99C>G (p.Asn33Lys)	SNV Germline	Chr3:8733975	Pathogenic	Distal myopathy, Tateyama type Long QT syndrome	Criteria Provided Single Submitter	CA119446	rs_1008642	3 SubmittersRCV000008786 RCV001212042
NM_033337.3(CAV3):c.423C>G (p.Ser141Arg)	SNV Germline	Chr3:8745834	Pathogenic	Long QT syndrome 9 Condition: not provided	No Assertion Criteria Provided	CA215221	rs_104893713	2 SubmittersRCV000008788 RCV000024432
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)	SNV Germline	Chr3:8745644	Conflicting classifications of pathogenicity	Long QT syndrome 2/9, digenic Long QT syndrome 9 Condition: not provided not specified Long QT syndrome Cardiovascular phenotype Long QT syndrome 1 Cardiomyopathy Caveolinopathy CAV3-related disorder Hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA119455	rs_72546668	25 SubmittersRCV000008791 RCV000008790 RCV000024406 RCV000039801 RCV000168328 RCV000242756 RCV000987088 RCV000769173 RCV001144019 RCV003924817 RCV004764897
NM_033337.3(CAV3):c.253G>A (p.Ala85Thr)	SNV Germline	Chr3:8745664	Pathogenic	Long QT syndrome 9 Condition: not provided	No Assertion Criteria Provided	CA215218	rs_104893715	2 SubmittersRCV000008792 RCV000024430
NM_033337.3(CAV3):c.40G>C (p.Val14Leu)	SNV Germline	Chr3:8733916	Pathogenic	Long QT syndrome 9 Condition: not provided	No Assertion Criteria Provided	CA215224	rs_121909281	2 SubmittersRCV000008793 RCV000024433
NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val)	SNV Germline	Chr20:33410203	Conflicting classifications of pathogenicity	Long QT syndrome 12 Condition: not provided Long QT syndrome Atrial fibrillation Cardiovascular phenotype Long QT syndrome	Criteria Provided Conflicting Classifications	CA254410	rs_121434500	6 SubmittersRCV000008997 RCV000414434 RCV000852541 RCV002326671 RCV002512925
NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val)	SNV Germline	Chr17:70175251	Pathogenic	Andersen Tawil syndrome Congenital long QT syndrome Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Single Submitter	CA254592	rs_104894575	3 SubmittersRCV000009473 RCV000058298 RCV001851763
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)	SNV Germline	Chr17:70175691	Pathogenic/Likely pathogenic	Andersen Tawil syndrome Congenital long QT syndrome Condition: not provided Short QT syndrome type 3 Andersen Tawil syndrome Cardiovascular phenotype Short QT syndrome type 3 Atrial fibrillation, familial, 9 Andersen Tawil syndrome	Criteria Provided Multiple Submitters No Conflicts	CA302041	rs_104894578	16 SubmittersRCV000009474 RCV000058326 RCV000170982 RCV000684775 RCV004018605 RCV005222677
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val)	SNV Germline	Chr17:70175938	Pathogenic	Andersen Tawil syndrome Congenital long QT syndrome Condition: not provided Andersen Tawil syndrome Short QT syndrome type 3 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA254594	rs_104894579	5 SubmittersRCV000009475 RCV000058332 RCV000170987 RCV002512943 RCV004629139
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)	SNV Germline	Chr17:70175238	Pathogenic	Andersen Tawil syndrome Congenital long QT syndrome Condition: not provided Short QT syndrome type 3 Atrial fibrillation, familial, 9 Andersen Tawil syndrome not specified Short QT syndrome type 3 Andersen Tawil syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA302015	rs_104894580	12 SubmittersRCV000009478 RCV000058294 RCV000170971 RCV000763415 RCV001000954 RCV000814909 RCV002415408
NM_000891.3(KCNJ2):c.557C>T (p.Pro186Leu)	SNV Germline	Chr17:70175596	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome	No Assertion Criteria Provided	CA254596	rs_104894581	2 SubmittersRCV000058319 RCV000009479
NM_000891.3(KCNJ2):c.904G>A (p.Val302Met)	SNV Germline	Chr17:70175943	Pathogenic	Andersen Tawil syndrome Congenital long QT syndrome	No Assertion Criteria Provided	CA254598	rs_104894582	2 SubmittersRCV000009480 RCV000058333
NM_000891.3(KCNJ2):c.646A>C (p.Asn216His)	SNV Germline	Chr17:70175685	Pathogenic	Andersen Tawil syndrome Congenital long QT syndrome	No Assertion Criteria Provided	CA254600	rs_104894583	2 SubmittersRCV000009481 RCV000058324
NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg)	SNV Germline	Chr17:70175263	Pathogenic	Andersen Tawil syndrome Congenital long QT syndrome Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Single Submitter	CA254602	rs_104894585	3 SubmittersRCV000009483 RCV000058301 RCV001851764
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)	SNV Germline	Chr3:38551441	Pathogenic	Long QT syndrome 3 Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome Cardiac arrhythmia SCN5A-related disorder Brugada syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA018760	rs_28937316	18 SubmittersRCV000009963 RCV000058726 RCV000183090 RCV000246905 RCV002307360 RCV003591624 RCV004545721 RCV006434910
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser)	SNV Germline	Chr3:38560418	Pathogenic/Likely pathogenic	Long QT syndrome 3 Congenital long QT syndrome Cardiovascular phenotype Condition: not provided Long QT syndrome Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA017679	rs_28937317	8 SubmittersRCV000009964 RCV000058618 RCV002354154 RCV003234898 RCV005417427 RCV006547487
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)	SNV Germline	Chr3:38551505	Pathogenic	Sick sinus syndrome 1 Condition: not provided Familial isolated arrhythmogenic right ventricular dysplasia Long QT syndrome 3 Cardiovascular phenotype 8 conditions Cardiac arrhythmia SCN5A-related disorder Brugada syndrome	Criteria Provided Multiple Submitters No Conflicts	CA018662	rs_137854613	13 SubmittersRCV000009968 RCV000183087 RCV000465149 RCV000477950 RCV000622049 RCV002496317 RCV001841231 RCV004528097 RCV003996083
NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys)	SNV Germline	Chr3:38550988	Pathogenic	Long QT syndrome 3 Congenital long QT syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA019196	rs_137854614	5 SubmittersRCV000009969 RCV000058778 RCV001561910 RCV002345237
NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln)	SNV Germline	Chr3:38551504	Pathogenic	Long QT syndrome 3 Long QT syndrome 3/6, digenic Congenital long QT syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA018670	rs_137854600	5 SubmittersRCV000009970 RCV000009971 RCV000058716 RCV001588806 RCV004984637
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)	SNV Germline	Chr3:38551022	Pathogenic/Likely pathogenic	Long QT syndrome 3 Brugada syndrome 1 Sinoatrial node disorder Congenital long QT syndrome Condition: not provided Brugada syndrome Cardiovascular phenotype Long QT syndrome 1 Congenital long QT syndrome Brugada syndrome Cardiac arrhythmia SCN5A-related disorder 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA019148	rs_137854601	26 SubmittersRCV000009972 RCV000009973 RCV000009974 RCV000058773 RCV000183117 RCV000208193 RCV000245905 RCV000588022 RCV000824758 RCV003591625 RCV004545722 RCV004795388
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr)	SNV Germline	Chr3:38550602	Conflicting classifications of pathogenicity	Brugada syndrome 1 Brugada syndrome Condition: not provided Cardiac arrhythmia Long QT syndrome Brugada syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA019460	rs_137854603	9 SubmittersRCV000009978 RCV000058806 RCV000420298 RCV001841233 RCV002251424 RCV004017231 RCV006268075
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)	SNV Germline	Chr3:38551243	Pathogenic/Likely pathogenic	Ventricular fibrillation, paroxysmal familial, type 1 Ventricular fibrillation Condition: not provided Brugada syndrome 1 Cardiovascular phenotype Cardiac arrhythmia 8 conditions Brugada syndrome Brugada syndrome 1 Long QT syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA018910	rs_137854604	16 SubmittersRCV000009981 RCV000058743 RCV000183102 RCV000197520 RCV000246596 RCV001841234 RCV002504774 RCV004017232 RCV004554591
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)	SNV Germline	Chr3:38581170	Conflicting classifications of pathogenicity	Long QT syndrome 3 Congenital long QT syndrome Condition: not provided 8 conditions Cardiac arrhythmia SCN5A-related disorder Atrial fibrillation, familial, 10 Brugada syndrome 1 Dilated cardiomyopathy 1E Long QT syndrome 3	Criteria Provided Conflicting Classifications	CA016718	rs_137854609	9 SubmittersRCV000009986 RCV000058542 RCV000183020 RCV002504775 RCV003591626 RCV004532320 RCV005051733
NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val)	SNV Germline	Chr3:38597787	Pathogenic/Likely pathogenic	Brugada syndrome 1 Brugada syndrome Condition: not provided Congenital long QT syndrome Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA015951	rs_137854611	8 SubmittersRCV000009989 RCV000058488 RCV003654175 RCV003996084 RCV003591627
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)	SNV Germline	Chr3:38579416	Conflicting classifications of pathogenicity	SUDDEN INFANT DEATH SYNDROME Long QT syndrome 3, acquired, susceptibility to not specified Condition: not provided Progressive familial heart block, type 1A Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome Dilated cardiomyopathy 1E Long QT syndrome 3 Cardiovascular phenotype Brugada syndrome 1 Cardiac arrhythmia Primary dilated cardiomyopathy Cardiomyopathy 8 conditions	Criteria Provided Conflicting Classifications	CA017028	rs_7626962	23 SubmittersRCV000009993 RCV000009992 RCV000041615 RCV000058563 RCV000304064 RCV000368908 RCV000396768 RCV000204216 RCV000274325 RCV000755696 RCV000621429 RCV001094834 RCV001841239 RCV003125829 RCV003149567 RCV002504776
NM_000335.5(SCN5A):c.3890C>T (p.Pro1297Leu)	SNV Germline	Chr3:38562485	Conflicting classifications of pathogenicity	Sick sinus syndrome 1 Sick sinus syndrome Cardiac arrhythmia Long QT syndrome 3 Brugada syndrome 1 Dilated cardiomyopathy 1E	Criteria Provided Conflicting Classifications	CA017599	rs_28937319	5 SubmittersRCV000009994 RCV000058612 RCV001841240 RCV004819205
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg)	SNV Germline	Chr3:38560170	Pathogenic	Sick sinus syndrome 1 Brugada syndrome 1 Conduction system disorder Brugada syndrome Condition: not provided 8 conditions Cardiovascular phenotype Congenital long QT syndrome Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA017985	rs_137854612	11 SubmittersRCV000009995 RCV000009996 RCV000009997 RCV000058649 RCV000183190 RCV002496318 RCV002326672 RCV003996085 RCV005402797
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)	SNV Germline	Chr3:38613787	Conflicting classifications of pathogenicity	Sick sinus syndrome 1 Brugada syndrome not specified AV junctional rhythm Cardiovascular phenotype Dilated cardiomyopathy 1E Primary familial dilated cardiomyopathy Long QT syndrome 3 Condition: not provided Cardiac arrhythmia SCN5A-related disorder Brugada syndrome 1 Long QT syndrome 3 Brugada syndrome 1	Criteria Provided Conflicting Classifications	CA019690	rs_45620037	17 SubmittersRCV000009998 RCV000058832 RCV000151804 RCV000148857 RCV000251727 RCV000258831 RCV000622951 RCV000678935 RCV000586618 RCV001841241 RCV004528099 RCV005411283 RCV006434911
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser)	SNV Germline	Chr3:38566465	Conflicting classifications of pathogenicity	Brugada syndrome 1 Brugada syndrome Long QT syndrome 3 Progressive familial heart block, type 1A Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Condition: not provided Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA017513	rs_137854616	11 SubmittersRCV000010001 RCV000058602 RCV000755698 RCV001146725 RCV001146726 RCV001146727 RCV001753410 RCV003996086 RCV004018613
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)	SNV Germline	Chr3:38581002	Conflicting classifications of pathogenicity	Brugada syndrome 1 Atrial fibrillation, familial, 10 Congenital long QT syndrome Long QT syndrome 3 Condition: not provided Cardiac arrhythmia Cardiovascular phenotype not specified Dilated cardiomyopathy 1E	Criteria Provided Conflicting Classifications	CA016871	rs_137854617	15 SubmittersRCV000010002 RCV000022945 RCV000058552 RCV000755695 RCV001528558 RCV001841242 RCV002321478 RCV004526592 RCV005246592
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn)	SNV Germline	Chr3:38566426	Pathogenic	Dilated cardiomyopathy 1E Brugada syndrome Atrial fibrillation, familial, 10 ATRIAL STANDSTILL 1, DIGENIC Condition: not provided Long QT syndrome 3 Cardiovascular phenotype Cardiac arrhythmia SCN5A-related disorder Brugada syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA017530	rs_137854618	14 SubmittersRCV000010003 RCV000058604 RCV000022946 RCV000114992 RCV000183045 RCV000656563 RCV000617238 RCV002222347 RCV004532321 RCV006434912
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)	SNV Germline	Chr3:38550917	Conflicting classifications of pathogenicity	Long QT syndrome 2/3, digenic Congenital long QT syndrome Long QT syndrome Brugada syndrome 1 Condition: not provided Cardiac arrhythmia Cardiovascular phenotype Atrial fibrillation	Criteria Provided Conflicting Classifications	CA019238	rs_137854619	12 SubmittersRCV000010005 RCV000058782 RCV000171695 RCV000987198 RCV001507624 RCV001841243 RCV002345238 RCV004772829
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His)	SNV Germline	Chr3:38554309	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1E Primary dilated cardiomyopathy Long QT syndrome 3 Brugada syndrome 1 Condition: not provided 8 conditions Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA018558	rs_137854607	7 SubmittersRCV000010009 RCV000058706 RCV001258074 RCV003156212 RCV005031434 RCV006547488
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_000219.6(KCNE1):c.20C>T (p.Thr7Ile)	SNV Germline	Chr21:34449615	Pathogenic	Jervell and Lange-Nielsen syndrome 2 Congenital long QT syndrome Long QT syndrome 5	No Assertion Criteria Provided	CA256863	rs_28933384	3 SubmittersRCV000014418 RCV000119076 RCV004777562
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)	SNV Germline	Chr21:34449409	Conflicting classifications of pathogenicity	Jervell and Lange-Nielsen syndrome 2 Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 5 Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome Jervell and Lange-Nielsen syndrome not specified Arrhythmogenic right ventricular cardiomyopathy	Criteria Provided Conflicting Classifications	CA256867	rs_74315445	26 SubmittersRCV000014419 RCV000148512 RCV000014420 RCV000119080 RCV000222568 RCV000243273 RCV000471399 RCV000606753 RCV000678806 RCV005054138
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu)	SNV Germline	Chr21:34449414	Conflicting classifications of pathogenicity	Long QT syndrome 5 Congenital long QT syndrome Long QT syndrome not specified Long QT syndrome 5 Jervell and Lange-Nielsen syndrome 2 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA256871	rs_74315446	8 SubmittersRCV000014421 RCV000119079 RCV000471661 RCV000603252 RCV002482866 RCV003318541 RCV004017244
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)	SNV Germline	Chr21:34449382	Conflicting classifications of pathogenicity; other; risk factor	Long QT syndrome 2/5, digenic Long QT syndrome 5, acquired, susceptibility to not specified Condition: not provided Cardiovascular phenotype Long QT syndrome Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5 Cardiomyopathy Congenital long QT syndrome Long QT syndrome 5 Jervell and Lange-Nielsen syndrome 2	Criteria Provided Conflicting Classifications	CA123130	rs_1805128	22 SubmittersRCV000014423 RCV000014422 RCV000035353 RCV000057858 RCV000247942 RCV000157255 RCV000399257 RCV000709727 RCV000852954 RCV001195103 RCV003224097
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)	SNV Germline	Chr7:150951711	Pathogenic/Likely pathogenic	Long QT syndrome 2 Congenital long QT syndrome Condition: not provided Long QT syndrome Obesity Prolonged QT interval Cardiovascular phenotype Cardiac arrhythmia Short QT syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA005035	rs_121912504	9 SubmittersRCV000015501 RCV000057941 RCV000181806 RCV000229360 RCV000626630 RCV000620827 RCV003492296 RCV004562210
NM_000238.4(KCNH2):c.1408A>G (p.Asn470Asp)	SNV Germline	Chr7:150952574	Pathogenic	Long QT syndrome 2 Congenital long QT syndrome	No Assertion Criteria Provided	CA004572	rs_121912505	2 SubmittersRCV000015502 RCV000057902
NM_000238.4(KCNH2):c.1778T>G (p.Ile593Arg)	SNV Germline	Chr7:150951615	Pathogenic	Long QT syndrome 2 Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA005460	rs_28928904	4 SubmittersRCV000015504 RCV000057986 RCV001545123 RCV001851874
NM_000238.4(KCNH2):c.2464G>A (p.Val822Met)	SNV Germline	Chr7:150948984	Pathogenic	Long QT syndrome 2 Congenital long QT syndrome Cardiovascular phenotype Long QT syndrome 1 Long QT syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA006796	rs_121912506	7 SubmittersRCV000015505 RCV000058125 RCV000254122 RCV000509399 RCV000806677 RCV001544763
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser)	SNV Germline	Chr7:150951511	Pathogenic	Long QT syndrome 2 Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype KCNH2-related disorder Short QT syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA005807	rs_121912507	12 SubmittersRCV000015508 RCV000058029 RCV000223848 RCV000822422 RCV002408467 RCV004549371 RCV004558262
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys)	SNV Germline	Chr7:150951649	Pathogenic/Likely pathogenic	Long QT syndrome 2 Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA005345	rs_121912508	9 SubmittersRCV000015509 RCV000057970 RCV000181815 RCV000537059 RCV002399326 RCV006547495
NM_000238.4(KCNH2):c.1714G>C (p.Gly572Arg)	SNV Germline	Chr7:150951679	Pathogenic	Long QT syndrome 2 Congenital long QT syndrome	No Assertion Criteria Provided	CA005249	rs_9333649	2 SubmittersRCV000015510 RCV000057960
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr)	SNV Germline	Chr7:150952514	Pathogenic/Likely pathogenic	Long QT syndrome, bradycardia-induced Congenital long QT syndrome Condition: not provided Long QT syndrome Long QT syndrome 2 Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA004650	rs_28928905	8 SubmittersRCV000015511 RCV000057910 RCV000182022 RCV000703745 RCV000709729 RCV002390110 RCV005402798
NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter)	SNV Germline	Chr7:150947477	Pathogenic	Long QT syndrome 2 Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007783	rs_121912509	3 SubmittersRCV000015512 RCV000181905 RCV001207958
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu)	SNV Germline	Chr7:150948995	Pathogenic	Long QT syndrome 2 Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype Condition: not provided Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA006763	rs_121912510	9 SubmittersRCV000015513 RCV000058123 RCV000631649 RCV002426506 RCV004696637 RCV003591634
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp)	SNV Germline	Chr7:150950216	Conflicting classifications of pathogenicity	Congenital long QT syndrome Brugada syndrome Long QT syndrome 2 Cardiac arrhythmia Long QT syndrome Condition: not provided Cardiovascular phenotype KCNH2-related disorder Reclassified - variant of unknown significance	Criteria Provided Conflicting Classifications	CA006462	rs_12720441	12 SubmittersRCV000058108 RCV000208497 RCV001262685 RCV001841245 RCV001851875 RCV002223758 RCV003162252 RCV004549372 RCV004720231
NM_000238.4(KCNH2):c.193A>C (p.Thr65Pro)	SNV Germline	Chr7:150974825	Pathogenic	Long QT syndrome 2 Congenital long QT syndrome	No Assertion Criteria Provided	CA006061	rs_121912511	2 SubmittersRCV000015515 RCV000058063
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln)	SNV Germline	Chr7:150950311	Pathogenic/Likely pathogenic	Long QT syndrome 2 Congenital long QT syndrome Long QT syndrome Condition: not provided Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA006389	rs_121912512	8 SubmittersRCV000015516 RCV000058100 RCV000148536 RCV001659699 RCV005348058 RCV005402799
NM_000238.4(KCNH2):c.1764C>A (p.Asn588Lys)	SNV Germline	Chr7:150951629	Pathogenic/Likely pathogenic	Short QT syndrome type 1 Short QT syndrome Cardiovascular phenotype Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA005420	rs_104894021	4 SubmittersRCV000015518 RCV000057980 RCV004991977 RCV006461165
NM_000238.4(KCNH2):c.2592+1G>A	SNV Germline	Chr7:150948855	Pathogenic/Likely pathogenic	Long QT syndrome 1/2, digenic Long QT syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA369854665	rs_1554424772	3 SubmittersRCV000015519 RCV003531902 RCV004719649
NM_000238.4(KCNH2):c.2842C>T (p.Arg948Cys)	SNV Germline	Chr7:150947729	Conflicting classifications of pathogenicity	Long QT syndrome 1/2, digenic Congenital long QT syndrome Long QT syndrome Condition: not provided Cardiac arrhythmia Long QT syndrome 2 Short QT syndrome type 1	Criteria Provided Conflicting Classifications	CA007496	rs_121912514	7 SubmittersRCV000015524 RCV000058169 RCV001318613 RCV001794448 RCV001841246 RCV002496372
NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly)	SNV Germline	Chr7:150974720	Conflicting classifications of pathogenicity	Long QT syndrome 2/3, digenic Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Short QT syndrome type 1	Criteria Provided Conflicting Classifications	CA007737	rs_121912515	5 SubmittersRCV000015525 RCV000058186 RCV000181948 RCV000617723 RCV002247344
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)	SNV Germline	Chr7:150947833	Conflicting classifications of pathogenicity	Long QT syndrome 2/9, digenic Long QT syndrome 2 Congenital long QT syndrome Long QT syndrome Condition: not provided Cardiovascular phenotype Cardiac arrhythmia not specified	Criteria Provided Conflicting Classifications	CA007260	rs_77331749	14 SubmittersRCV000015527 RCV000015526 RCV000058156 RCV000204621 RCV000589886 RCV000620709 RCV001841247 RCV006268079
NM_000238.4(KCNH2):c.1672G>C (p.Ala558Pro)	SNV Germline	Chr7:150951721	Pathogenic	Long QT syndrome 2 Congenital long QT syndrome	No Assertion Criteria Provided	CA004968	rs_121912516	2 SubmittersRCV000015528 RCV000057935
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)	SNV Germline	Chr1:156130741	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1A Condition: not provided Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiomyopathy Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA018140	rs_28933093	19 SubmittersRCV000015598 RCV000057409 RCV000211788 RCV000687241 RCV001170451 RCV003318333 RCV004018635
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter)	SNV Germline	Chr3:170999142	Pathogenic	Fanconi-Bickel syndrome Type 2 diabetes mellitus Fanconi-Bickel syndrome Condition: not provided Congenital long QT syndrome Glioma susceptibility 1	Criteria Provided Multiple Submitters No Conflicts	CA019983	rs_121909742	8 SubmittersRCV000017472 RCV002490379 RCV004719651 RCV004732549 RCV005887534
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 Condition: not provided Cardiomyopathy Long QT syndrome DSG2-related disorder	Criteria Provided Conflicting Classifications	CA021523	rs_121913013	29 SubmittersRCV000018311 RCV000018312 RCV000037270 RCV000148471 RCV000157179 RCV000157180 RCV000243248 RCV000757183 RCV000769508 RCV000852739 RCV003944829
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)	SNV Germline	Chr6:7579989	Pathogenic/Likely pathogenic	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Primary dilated cardiomyopathy Long QT syndrome Condition: not provided Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Cardiovascular phenotype Cardiomyopathy Primary dilated cardiomyopathy	Criteria Provided Multiple Submitters No Conflicts	CA004255	rs_121912997	10 SubmittersRCV000018339 RCV000157195 RCV000598733 RCV001851909 RCV002354165 RCV003531904 RCV004786273
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)	SNV Germline	Chr12:2504944	Pathogenic	Timothy syndrome Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype Long QT syndrome 8 Timothy syndrome Brugada syndrome 3 Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Long QT syndrome 8 CACNA1C-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA301246	rs_79891110	13 SubmittersRCV000019199 RCV000058285 RCV000170771 RCV000199739 RCV002354166 RCV003224103 RCV003332999 RCV003985262
NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser)	SNV Germline	Chr12:2504932	Pathogenic	Timothy syndrome Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA329627	rs_80315385	5 SubmittersRCV000019200 RCV000058284 RCV000422493 RCV001851937
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)	SNV Germline	Chr12:2550020	Conflicting classifications of pathogenicity	Brugada syndrome 3 Brugada syndrome not specified Timothy syndrome Cardiovascular phenotype Condition: not provided Long QT syndrome CACNA1C-related disorder	Criteria Provided Conflicting Classifications	CA264819	rs_121912775	15 SubmittersRCV000019201 RCV000058286 RCV000170775 RCV000334098 RCV000618330 RCV000586094 RCV001085545 RCV003944830
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)	SNV Germline	Chr4:113348277	Conflicting classifications of pathogenicity	Long QT syndrome 4 Cardiac arrhythmia, ankyrin-B-related Congenital long QT syndrome Long QT syndrome Condition: not provided Cardiovascular phenotype Conduction disorder of the heart not specified	Criteria Provided Conflicting Classifications	CA127763	rs_72544141	12 SubmittersRCV000019672 RCV000019673 RCV000058356 RCV000171737 RCV000170702 RCV000244762 RCV000845369 RCV001002092
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)	SNV Germline	Chr4:113367764	Conflicting classifications of pathogenicity	Cardiac arrhythmia, ankyrin-B-related Long QT syndrome not specified Cardiovascular phenotype Condition: not provided Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA145030	rs_121912705	16 SubmittersRCV000019674 RCV000204635 RCV000223796 RCV000618056 RCV000723633 RCV001841248
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp)	SNV Germline	Chr4:113373306	Conflicting classifications of pathogenicity	Long QT syndrome 4 Death in infancy not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Long QT syndrome Cardiac arrhythmia, ankyrin-B-related Cardiac arrhythmia ANK2-related disorder	Criteria Provided Conflicting Classifications	CA127768	rs_121912706	15 SubmittersRCV000019676 RCV000234999 RCV000211890 RCV000474063 RCV000620379 RCV000852983 RCV001082560 RCV001145853 RCV001841250 RCV003904850
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)	SNV Germline	Chr7:150951552	Pathogenic	Long QT syndrome 2 Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA005654	rs_199472944	10 SubmittersRCV000022643 RCV000058010 RCV000254785 RCV000462085 RCV002408476
NM_000238.4(KCNH2):c.1831T>C (p.Tyr611His)	SNV Germline	Chr7:150951562	Pathogenic	Long QT syndrome 2 Congenital long QT syndrome	No Assertion Criteria Provided	CA005621	rs_199472942	2 SubmittersRCV000022644 RCV000058006
NM_000891.3(KCNJ2):c.913A>C (p.Thr305Pro)	SNV Germline	Chr17:70175952	Pathogenic	Andersen Tawil syndrome Congenital long QT syndrome	No Assertion Criteria Provided	CA259745	rs_199473387	2 SubmittersRCV000023028 RCV000058335
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)	SNV Germline	Chr17:70175316	Conflicting classifications of pathogenicity	Atrial fibrillation, familial, 9 Atrial fibrillation Condition: not provided Short QT syndrome type 3 Andersen Tawil syndrome Andersen Tawil syndrome Short QT syndrome type 3 Cardiovascular phenotype Long QT syndrome	Criteria Provided Conflicting Classifications	CA128946	rs_147750704	10 SubmittersRCV000023029 RCV000148540 RCV000170978 RCV000544361 RCV001127504 RCV001127505 RCV002433466 RCV003318334
NM_033337.3(CAV3):c.169G>A (p.Val57Met)	SNV Germline	Chr3:8745580	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome Cardiomyopathy Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA215150	rs_116840795	7 SubmittersRCV000024391 RCV000706810 RCV001171082 RCV004017265 RCV004782023
NM_033337.3(CAV3):c.79C>G (p.Arg27Gly)	SNV Germline	Chr3:8733955	Pathogenic	Condition: not provided Long QT syndrome	Criteria Provided Single Submitter	CA215172	rs_199476324	2 SubmittersRCV000024407 RCV002513227
NM_033337.3(CAV3):c.100G>A (p.Glu34Lys)	SNV Germline	Chr3:8733976	Conflicting classifications of pathogenicity	Condition: not provided Rippling muscle disease 2 Long QT syndrome Cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA215184	rs_199476325	5 SubmittersRCV000024415 RCV000234023 RCV000560643 RCV000770194 RCV004018672
NM_033337.3(CAV3):c.301T>C (p.Trp101Arg)	SNV Germline	Chr3:8745712	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome	Criteria Provided Conflicting Classifications	CA215196	rs_199476337	4 SubmittersRCV000024420 RCV001852570
NM_033337.3(CAV3):c.114+2T>C	SNV Germline	Chr3:8733992	Pathogenic	Condition: not provided Long QT syndrome Distal myopathy, Tateyama type Rippling muscle disease 2 Hypertrophic cardiomyopathy 1 Elevated circulating creatine kinase concentration Long QT syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA215208	rs_116840787	3 SubmittersRCV000024426 RCV001238633 RCV002496441
NM_033337.3(CAV3):c.80G>C (p.Arg27Pro)	SNV Germline	Chr3:8733956	Conflicting classifications of pathogenicity	Condition: not provided CAV3-related disorder Long QT syndrome	Criteria Provided Conflicting Classifications	CA215237	rs_116840778	3 SubmittersRCV000024438 RCV003407362 RCV002513228
NM_005751.5(AKAP9):c.4837A>G (p.Met1613Val)	SNV Germline	Chr7:92040818	Conflicting classifications of pathogenicity	not specified Long QT syndrome Condition: not provided Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA213516	rs_193922723	6 SubmittersRCV000202769 RCV000542732 RCV001551993 RCV001841513
NM_001148.6(ANK2):c.3796+18G>A	SNV Germline	Chr4:113336799	Conflicting classifications of pathogenicity	Condition: not provided Cardiac arrhythmia Long QT syndrome	Criteria Provided Conflicting Classifications	CA213525	rs_66792339	4 SubmittersRCV001650843 RCV001841515 RCV002054478
NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile)	SNV Germline	Chr4:113356784	Conflicting classifications of pathogenicity	Long QT syndrome Condition: not provided Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA213530	rs_193922637	4 SubmittersRCV000691559 RCV001775543 RCV002415429 RCV005414253
NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser)	SNV Germline	Chr12:2691089	Conflicting classifications of pathogenicity	not specified Cardiac arrhythmia Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA213545	rs_193922616	4 SubmittersRCV000170764 RCV001841523 RCV001852586 RCV005318315
NM_033337.3(CAV3):c.417C>T (p.Val139=)	SNV Germline	Chr3:8745828	Conflicting classifications of pathogenicity	Cardiomyopathy Long QT syndrome Caveolinopathy Condition: not provided Cardiovascular phenotype not specified CAV3-related disorder	Criteria Provided Conflicting Classifications	CA325683	rs_147250678	11 SubmittersRCV000029456 RCV000226274 RCV000349095 RCV000379233 RCV000620134 RCV001699183 RCV003914865
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu)	SNV Germline	Chr7:150947340	Conflicting classifications of pathogenicity	Condition: not provided Torsades de pointes Sudden unexplained death Long QT syndrome 2 Cardiovascular phenotype Long QT syndrome not specified Cardiac arrhythmia KCNH2-related disorder	Criteria Provided Conflicting Classifications	CA008041	rs_36210421	17 SubmittersRCV000058202 RCV000171814 RCV000172896 RCV000203011 RCV000243613 RCV000401763 RCV000517346 RCV001841531 RCV004549392
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)	SNV Germline	Chr11:2572970	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Cardiovascular phenotype Long QT syndrome 1 Condition: not provided Cardiac arrhythmia Incidental Discovery	Criteria Provided Multiple Submitters No Conflicts	CA008587	rs_193922365	16 SubmittersRCV000030111 RCV000057792 RCV000618395 RCV000709734 RCV001532623 RCV005402806 RCV006555026
NM_000335.5(SCN5A):c.2436+12G>A	SNV Germline	Chr3:38587388	Conflicting classifications of pathogenicity	Cardiomyopathy not specified Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Progressive familial heart block, type 1A Long QT syndrome 3 Dilated cardiomyopathy 1E Condition: not provided	Criteria Provided Conflicting Classifications	CA016146	rs_41312419	12 SubmittersRCV000030437 RCV000041610 RCV000302686 RCV000336094 RCV000362031 RCV000404199 RCV000337701 RCV000393121 RCV001529361
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=)	SNV Germline	Chr3:38560174	Conflicting classifications of pathogenicity	Cardiomyopathy not specified Cardiovascular phenotype Condition: not provided Brugada syndrome Long QT syndrome 3 Sick sinus syndrome 1 Ventricular fibrillation, paroxysmal familial, type 1 Progressive familial heart block, type 1A Dilated cardiomyopathy 1E Brugada syndrome 1 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA017977	rs_41311123	20 SubmittersRCV000030440 RCV000041622 RCV000246331 RCV000713142 RCV001082798 RCV001146498 RCV001146499 RCV001149266 RCV001149267 RCV001146497 RCV001146496 RCV001841548
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=)	SNV Germline	Chr3:38555689	Conflicting classifications of pathogenicity	Long QT syndrome not specified Condition: not provided Cardiovascular phenotype Brugada syndrome 1 Progressive familial heart block, type 1A Dilated cardiomyopathy 1E Ventricular fibrillation, paroxysmal familial, type 1 Long QT syndrome 3 Sick sinus syndrome 1 Cardiac arrhythmia Cardiomyopathy	Criteria Provided Conflicting Classifications	CA018381	rs_45548237	18 SubmittersRCV000030442 RCV000041623 RCV000199109 RCV000246870 RCV001144455 RCV001146361 RCV001146363 RCV001144454 RCV001144456 RCV001146362 RCV001841549 RCV003486547
NM_000335.5(SCN5A):c.630G>A (p.Val210=)	SNV Germline	Chr3:38613816	Conflicting classifications of pathogenicity	Cardiomyopathy not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1E Ventricular fibrillation, paroxysmal familial, type 1 Progressive familial heart block, type 1A Sick sinus syndrome 1 Long QT syndrome 3 Brugada syndrome 1 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA019666	rs_193922727	18 SubmittersRCV000030445 RCV000151806 RCV000620296 RCV000757740 RCV001149163 RCV001150668 RCV001150667 RCV001150669 RCV001150670 RCV001150671 RCV001841552
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)	SNV Germline	Chr3:38613799	Conflicting classifications of pathogenicity	Condition: not provided not specified Cardiovascular phenotype Ventricular tachycardia Brugada syndrome Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Dilated cardiomyopathy 1E Long QT syndrome 3 Progressive familial heart block, type 1A Sick sinus syndrome 1 Cardiac arrhythmia 8 conditions	Criteria Provided Conflicting Classifications	CA019682	rs_41276525	27 SubmittersRCV000058831 RCV000151805 RCV000248707 RCV000852966 RCV001081940 RCV001149159 RCV001149161 RCV001149157 RCV001149158 RCV001149160 RCV001149162 RCV001841553 RCV003224111
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)	SNV Germline	Chr11:2571333	Pathogenic	Long QT syndrome 1 Condition: not provided Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype KCNQ1-related disorder Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA007777	rs_151344631	14 SubmittersRCV000030815 RCV000057723 RCV000119056 RCV000148547 RCV000252730 RCV005229835 RCV006547505
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)	SNV Germline	Chr3:38613781	Pathogenic	Dilated cardiomyopathy 1E Congenital long QT syndrome Condition: not provided Primary dilated cardiomyopathy 8 conditions Long QT syndrome 3 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA019704	rs_45546039	14 SubmittersRCV000032639 RCV000058833 RCV000182941 RCV000211852 RCV000763109 RCV000678965 RCV005403729
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_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)	SNV Germline	Chr12:112489093	Pathogenic	RASopathy LEOPARD syndrome 1 Condition: not provided Noonan syndrome with multiple lentigines Noonan syndrome Cardiovascular phenotype Congenital long QT syndrome PTPN11-related disorder Noonan syndrome 1	Reviewed By Expert Panel	CA235331	rs_397507548	17 SubmittersRCV000033550 RCV000055887 RCV000157683 RCV000154371 RCV001849289 RCV002390133 RCV004732584 RCV004541060 RCV004554638
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)	SNV Germline	Chr1:115768445	Pathogenic/Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 2 Condition: not provided Long QT syndrome Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 1 Catecholaminergic polymorphic ventricular tachycardia 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA301925	rs_397507556	9 SubmittersRCV000033942 RCV000170900 RCV003318336 RCV002513332 RCV005428996 RCV005305949
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly)	SNV Germline	Chr11:47351383	Conflicting classifications of pathogenicity	not specified Hypertrophic cardiomyopathy Cardiomyopathy Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA010476	rs_373164247	11 SubmittersRCV000035404 RCV001057933 RCV000770384 RCV001701644 RCV003318337 RCV004018742
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly)	SNV Germline	Chr11:47349779	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Hypertrophic cardiomyopathy 4 Hypertrophic cardiomyopathy Left ventricular noncompaction 10 Long QT syndrome	Criteria Provided Conflicting Classifications	CA015609	rs_138753870	14 SubmittersRCV000035656 RCV000172559 RCV000618826 RCV000771156 RCV001105225 RCV001082031 RCV001105224 RCV003318339
NM_001018005.2(TPM1):c.240+4430G>A	SNV Germline	Chr15:63048582	Conflicting classifications of pathogenicity	not specified Long QT syndrome Paroxysmal familial ventricular fibrillation	Criteria Provided Conflicting Classifications	CA018745	rs_397516490	2 SubmittersRCV000036633 RCV005054144
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)	SNV Germline	Chr6:7581408	Conflicting classifications of pathogenicity	not specified Condition: not provided Arrhythmogenic right ventricular cardiomyopathy Lethal acantholytic epidermolysis bullosa Woolly hair-skin fragility syndrome Primary dilated cardiomyopathy Hemiplegia Migraine Cardiovascular phenotype Cardiomyopathy Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Arrhythmogenic right ventricular dysplasia 8 Long QT syndrome DSP-related disorder	Criteria Provided Conflicting Classifications	CA004588	rs_142885240	22 SubmittersRCV000038062 RCV000172543 RCV000291666 RCV000376629 RCV000406700 RCV000415071 RCV000621777 RCV000769232 RCV001095215 RCV001082740 RCV003318345 RCV003974881
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)	SNV Germline	Chr12:32841139	Conflicting classifications of pathogenicity	not specified Familial isolated arrhythmogenic right ventricular dysplasia Arrhythmogenic right ventricular dysplasia 9 Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype Premature ventricular contraction Brugada syndrome Cardiomyopathy Condition: not provided Long QT syndrome	Criteria Provided Conflicting Classifications	CA010636	rs_146882581	24 SubmittersRCV000038172 RCV000148726 RCV000205511 RCV000239283 RCV000621305 RCV000852676 RCV000771145 RCV001705683 RCV003318346
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)	SNV Germline	Chr12:32796167	Conflicting classifications of pathogenicity	not specified Familial isolated arrhythmogenic right ventricular dysplasia Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular dysplasia 9 Cardiomyopathy Condition: not provided Long QT syndrome PKP2-related disorder	Criteria Provided Conflicting Classifications	CA010668	rs_139734328	23 SubmittersRCV000038209 RCV000148730 RCV000190558 RCV000244829 RCV000458904 RCV000776101 RCV000858416 RCV003318347 RCV003934921
NM_033337.3(CAV3):c.276C>T (p.Phe92=)	SNV Germline	Chr3:8745687	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Cardiomyopathy Long QT syndrome Caveolinopathy CAV3-related disorder	Criteria Provided Conflicting Classifications	CA138566	rs_72546669	16 SubmittersRCV000039802 RCV000622151 RCV000725467 RCV000769175 RCV001085894 RCV001144020 RCV003924952
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)	SNV Germline	Chr2:178698879	Conflicting classifications of pathogenicity	not specified Condition: not provided Tibial muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Hypertrophic cardiomyopathy Cardiomyopathy Long QT syndrome Autosomal recessive limb-girdle muscular dystrophy type 2J Dilated cardiomyopathy 1G Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy TTN-related disorder	Criteria Provided Conflicting Classifications	CA139329	rs_111671438	20 SubmittersRCV000040111 RCV000172682 RCV000578036 RCV000577956 RCV000578117 RCV000852879 RCV001084360 RCV001129423 RCV001129424 RCV004541143
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)	SNV Germline	Chr2:178614880	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Early-onset myopathy with fatal cardiomyopathy Dilated cardiomyopathy 1G Tibial muscular dystrophy Cardiomyopathy Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Long QT syndrome Tip-toe gait TTN-related disorder	Criteria Provided Conflicting Classifications	CA139792	rs_72677242	16 SubmittersRCV000040294 RCV000172666 RCV000244085 RCV000337051 RCV000278356 RCV000284453 RCV000335718 RCV000406708 RCV000768998 RCV001081356 RCV000852850 RCV001358658 RCV004528209
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)	SNV Germline	Chr2:178593006	Conflicting classifications of pathogenicity	not specified Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Arrhythmogenic right ventricular dysplasia 9 Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA140129	rs_72646839	12 SubmittersRCV000040416 RCV000469250 RCV000491963 RCV000725816 RCV000852513 RCV002321523
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)	SNV Germline	Chr2:178539675	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Cardiomyopathy Long QT syndrome Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J Myopathy, myofibrillar, 9, with early respiratory failure Dilated cardiomyopathy 1G Early-onset myopathy with fatal cardiomyopathy Tibial muscular dystrophy	Criteria Provided Conflicting Classifications	CA284164	rs_149001703	23 SubmittersRCV000040869 RCV000419770 RCV000621374 RCV000768846 RCV000852783 RCV001082901 RCV001129725 RCV001132433 RCV001129726 RCV001132434 RCV001132435
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp)	SNV Germline	Chr3:38604806	Conflicting classifications of pathogenicity	not specified Condition: not provided Brugada syndrome 1 Long QT syndrome 3 Brugada syndrome Long QT syndrome 3 Cardiovascular phenotype Dilated cardiomyopathy 1E Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Long QT syndrome 3 Progressive familial heart block, type 1A Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA014875	rs_144511230	18 SubmittersRCV000041599 RCV000058424 RCV000203074 RCV000238622 RCV000249137 RCV001148784 RCV001148786 RCV001148783 RCV001148785 RCV001148787 RCV001148788 RCV001841588
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=)	SNV Germline	Chr3:38603921	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Long QT syndrome 3 Sick sinus syndrome 1 Ventricular fibrillation, paroxysmal familial, type 1 Dilated cardiomyopathy 1E Progressive familial heart block, type 1A Condition: not provided Brugada syndrome 1 Cardiac arrhythmia Cardiomyopathy	Criteria Provided Conflicting Classifications	CA015163	rs_45522138	20 SubmittersRCV000041605 RCV000248733 RCV000272112 RCV000293403 RCV000329437 RCV000386322 RCV000388793 RCV000586693 RCV001094812 RCV001841594 RCV003486624
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile)	SNV Germline	Chr3:38585708	Conflicting classifications of pathogenicity	not specified Condition: not provided Ventricular tachycardia Brugada syndrome Long QT syndrome 3 Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA016475	rs_199473177	9 SubmittersRCV000041611 RCV000058525 RCV000157486 RCV000238603 RCV001841599 RCV004018914
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln)	SNV Germline	Chr3:38633255	Conflicting classifications of pathogenicity	not specified Congenital long QT syndrome Condition: not provided Cardiac arrhythmia Cardiovascular phenotype Brugada syndrome 1 Long QT syndrome 3 Brugada syndrome 1	Criteria Provided Conflicting Classifications	CA019208	rs_41311087	11 SubmittersRCV000041626 RCV000058779 RCV000766749 RCV001841609 RCV002345328 RCV005049408 RCV006434915
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)	SNV Germline	Chr3:38550661	Conflicting classifications of pathogenicity	not specified Condition: not provided Long QT syndrome Death in infancy Cardiovascular phenotype Brugada syndrome 1 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA019439	rs_150264233	11 SubmittersRCV000041630 RCV000058802 RCV000148839 RCV000234983 RCV000620507 RCV000987195 RCV001841613
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu)	SNV Germline	Chr3:38550487	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Progressive familial heart block, type 1A Sick sinus syndrome 1 Dilated cardiomyopathy 1E Brugada syndrome 1 Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA019523	rs_199473638	8 SubmittersRCV000041634 RCV000058813 RCV000620208 RCV001145796 RCV001145797 RCV001145798 RCV001145799 RCV001145800 RCV001145801 RCV001841616
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)	SNV Germline	Chr3:38550362	Conflicting classifications of pathogenicity	not specified Condition: not provided Long QT syndrome Brugada syndrome Brugada syndrome 1 Long QT syndrome 3 Cardiovascular phenotype Brugada syndrome 1 Cardiomyopathy Dilated cardiomyopathy 1E Sick sinus syndrome 1 Progressive familial heart block, type 1A Long QT syndrome 3 Ventricular fibrillation, paroxysmal familial, type 1 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA019578	rs_41311117	22 SubmittersRCV000041636 RCV000058821 RCV000171818 RCV000202785 RCV000251940 RCV000678922 RCV000852960 RCV001145574 RCV001145575 RCV001145687 RCV001145688 RCV001145689 RCV001841618
NM_000335.5(SCN5A):c.717C>T (p.Ile239=)	SNV Germline	Chr3:38609951	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Dilated cardiomyopathy 1E Ventricular fibrillation, paroxysmal familial, type 1 Brugada syndrome 1 Sick sinus syndrome 1 Long QT syndrome 3 Progressive familial heart block, type 1A Cardiac arrhythmia Cardiomyopathy	Criteria Provided Conflicting Classifications	CA019760	rs_41285129	20 SubmittersRCV000041638 RCV000249766 RCV000590534 RCV001144458 RCV001150547 RCV001144457 RCV001150548 RCV001144459 RCV001144460 RCV001841619 RCV003486627
NM_000218.3(KCNQ1):c.1013C>T (p.Ser338Phe)	SNV Germline	Chr11:2583526	Pathogenic	Long QT syndrome Congenital long QT syndrome	Criteria Provided Single Submitter	CA004825	rs_199472758	2 SubmittersRCV000045928 RCV000057523
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser)	SNV Germline	Chr11:2583529	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Cardiovascular phenotype Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA004838	rs_199472759	6 SubmittersRCV000057525 RCV000182311 RCV000515709 RCV002336178 RCV002514220
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe)	SNV Germline	Chr11:2583537	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA004906	rs_199472760	5 SubmittersRCV000057529 RCV000182312 RCV000617516 RCV000845338
NM_000218.3(KCNQ1):c.1027C>T (p.Pro343Ser)	SNV Germline	Chr11:2583540	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA004923	rs_199472762	3 SubmittersRCV000057530 RCV001387951 RCV003362679
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val)	SNV Germline	Chr11:2583544	Pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype Long QT syndrome 1 Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA004967	rs_199472763	14 SubmittersRCV000057534 RCV000223824 RCV001384422 RCV002381340 RCV002470738 RCV003591636
NM_000218.3(KCNQ1):c.1032+1G>A	SNV Germline	Chr11:2583546	Pathogenic/Likely pathogenic	Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA004984	rs_397508070	4 SubmittersRCV000182161 RCV000190169 RCV003162395
NM_000218.3(KCNQ1):c.1032+5G>A	SNV Germline	Chr11:2583550	Pathogenic/Likely pathogenic	Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA004997	rs_397508071	3 SubmittersRCV000577113
NM_000218.3(KCNQ1):c.1032G>C (p.Ala344=)	SNV Germline	Chr11:2583545	Pathogenic	Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA005015	rs_1800171	2 SubmittersRCV000182160 RCV005089428
NM_000218.3(KCNQ1):c.1033G>C (p.Gly345Arg)	SNV Germline	Chr11:2585212	Pathogenic	Long QT syndrome Congenital long QT syndrome	Criteria Provided Single Submitter	CA005053	rs_199473471	2 SubmittersRCV000045943 RCV000057535
NM_000218.3(KCNQ1):c.1045T>C (p.Ser349Pro)	SNV Germline	Chr11:2585224	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome	Criteria Provided Conflicting Classifications	CA005070	rs_199472764	3 SubmittersRCV000057537 RCV001378980
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp)	SNV Germline	Chr11:2585225	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA005079	rs_199472765	6 SubmittersRCV000057538 RCV000182330 RCV001377773 RCV003162396
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)	SNV Germline	Chr11:2585245	Pathogenic	Long QT syndrome Condition: not provided Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Cardiovascular phenotype Cardiac arrhythmia Congenital long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA005143	rs_397508072	12 SubmittersRCV000045950 RCV000182167 RCV000678957 RCV001258105 RCV002408545 RCV003155055 RCV004017346
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)	SNV Germline	Chr11:2585254	Pathogenic	Long QT syndrome Condition: not provided Cardiovascular phenotype Cardiac arrhythmia Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Long QT syndrome 1 Long QT syndrome 1 KCNQ1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA005174	rs_397508075	14 SubmittersRCV000045954 RCV000223715 RCV000617465 RCV001841622 RCV002496699 RCV003319304 RCV004732637
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	SNV Germline	Chr11:2585264	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Short QT syndrome type 2 Long QT syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Cardiac arrhythmia Cardiovascular phenotype Short QT syndrome type 2 Long QT syndrome 1 Atrial fibrillation, familial, 3 KCNQ1-related disorder Short QT syndrome type 2 Long QT syndrome 1 Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA005223	rs_12720458	24 SubmittersRCV000045957 RCV000057548 RCV000223836 RCV000762835 RCV000851291 RCV001841623 RCV003162397 RCV003330078 RCV003335077 RCV003448253 RCV005862750
NM_000218.3(KCNQ1):c.1087C>A (p.His363Asn)	SNV Germline	Chr11:2585266	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Conflicting Classifications	CA005231	rs_199473408	3 SubmittersRCV000057549 RCV000182172 RCV001306051
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)	SNV Germline	Chr11:2585275	Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Cardiovascular phenotype Jervell and Lange-Nielsen syndrome 1	Reviewed By Expert Panel	CA005255	rs_199473411	17 SubmittersRCV000045959 RCV000057551 RCV000182173 RCV000496023 RCV000617196 RCV004760361
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)	SNV Germline	Chr11:2585276	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA005263	rs_199473410	20 SubmittersRCV000057552 RCV000786152 RCV001384915 RCV002251734 RCV002054871 RCV005401308
NM_000218.3(KCNQ1):c.1097G>C (p.Arg366Pro)	SNV Germline	Chr11:2585276	Pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA005270	rs_199473410	2 SubmittersRCV000057553 RCV002514222
NM_000218.3(KCNQ1):c.1101G>T (p.Gln367His)	SNV Germline	Chr11:2585280	Likely pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA005281	rs_199473663	2 SubmittersRCV000057554 RCV001350647
NM_000218.3(KCNQ1):c.1111G>A (p.Ala371Thr)	SNV Germline	Chr11:2585290	Likely pathogenic	Congenital long QT syndrome Cardiovascular phenotype	Criteria Provided Single Submitter	CA005300	rs_199473412	2 SubmittersRCV000057555 RCV004991997
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His)	SNV Germline	Chr11:2585300	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Cardiovascular phenotype Condition: not provided Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA005326	rs_199472767	7 SubmittersRCV000045965 RCV000057558 RCV000618916 RCV000721103 RCV001841624
NM_000218.3(KCNQ1):c.1128+1G>T	SNV Germline	Chr11:2585308	Likely pathogenic	Long QT syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA005355	rs_397508078	3 SubmittersRCV000576927 RCV002223777
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser)	SNV Germline	Chr11:2587581	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Cardiovascular phenotype Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA005394	rs_199472771	4 SubmittersRCV000045968 RCV000057563 RCV002453353 RCV003319305
NM_000218.3(KCNQ1):c.1178A>T (p.Lys393Met)	SNV Germline	Chr11:2587619	Conflicting classifications of pathogenicity	Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA005470	rs_199472775	5 SubmittersRCV000045973 RCV000057569 RCV000218718 RCV001841625
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)	SNV Germline	Chr11:2587630	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Condition: not provided Long QT syndrome 1 Cardiovascular phenotype Wolff-Parkinson-White pattern not specified Cardiac arrhythmia Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Atrial fibrillation, familial, 3	Criteria Provided Conflicting Classifications	CA005482	rs_199472776	17 SubmittersRCV000057571 RCV000148545 RCV000182181 RCV000203070 RCV000619428 RCV000656189 RCV000825350 RCV001841626 RCV002467560
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp)	SNV Germline	Chr11:2588815	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Long QT syndrome 1 Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA005672	rs_140452381	11 SubmittersRCV000057582 RCV000224680 RCV000148551 RCV000621439 RCV000764974 RCV001248784 RCV001841631
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter)	SNV Germline	Chr11:2662080	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome 1 Long QT syndrome Condition: not provided Cardiovascular phenotype Atrial fibrillation, familial, 3	Criteria Provided Multiple Submitters No Conflicts	CA005820	rs_397508091	7 SubmittersRCV000614087 RCV000577463 RCV000622334 RCV001659985 RCV002390193 RCV006449268
NM_000218.3(KCNQ1):c.1514+1G>A	SNV Germline	Chr11:2662082	Pathogenic	Long QT syndrome 1 Cardiovascular phenotype	Criteria Provided Single Submitter	CA005829	rs_397508093	2 SubmittersRCV000577184 RCV000617855
NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter)	SNV Germline	Chr11:2445251	Pathogenic/Likely pathogenic	Long QT syndrome Condition: not provided Cardiac arrhythmia Cardiovascular phenotype Congenital long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA005867	rs_397508096	5 SubmittersRCV000045993 RCV000182246 RCV001841633 RCV002399405 RCV004017347
NM_000218.3(KCNQ1):c.1541T>C (p.Ile514Thr)	SNV Germline	Chr11:2768870	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA005875	rs_199472786	3 SubmittersRCV000057590 RCV000790440 RCV005582260
NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly)	SNV Germline	Chr11:2768881	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Long QT syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA005889	rs_17215500	4 SubmittersRCV000045995 RCV000057592 RCV000735257 RCV004017348
NM_000218.3(KCNQ1):c.1559T>G (p.Met520Arg)	SNV Germline	Chr11:2768888	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA005930	rs_199473479	7 SubmittersRCV000045999 RCV000057597 RCV000182199 RCV000621710 RCV004786319
NM_000218.3(KCNQ1):c.1571T>G (p.Val524Gly)	SNV Germline	Chr11:2768900	Pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA005943	rs_199472790	6 SubmittersRCV000046000 RCV000057599 RCV000182201 RCV004017349
NM_000218.3(KCNQ1):c.1576A>G (p.Lys526Glu)	SNV Germline	Chr11:2768905	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Condition: not provided Long QT syndrome 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA005962	rs_199472792	6 SubmittersRCV000057602 RCV000148558 RCV000182203 RCV004786320 RCV004018943
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)	SNV Germline	Chr11:2768917	Pathogenic	Long QT syndrome Condition: not provided Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Short QT syndrome type 2 Cardiovascular phenotype Long QT syndrome 1 Cardiac arrhythmia Jervell and Lange-Nielsen syndrome 1 KCNQ1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA005967	rs_397508097	17 SubmittersRCV000046003 RCV000182204 RCV000515204 RCV000619891 RCV001029805 RCV001841634 RCV001847642 RCV004528255
NM_000218.3(KCNQ1):c.1608C>A (p.Tyr536Ter)	SNV Germline	Chr11:2775977	Pathogenic	Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA005987	rs_138551008	3 SubmittersRCV000182320 RCV001857383 RCV005582261
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)	SNV Germline	Chr11:2775984	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Long QT syndrome 1 Long QT syndrome 1 Cardiovascular phenotype KCNQ1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA005994	rs_199472795	14 SubmittersRCV000046006 RCV000057604 RCV000223851 RCV000762836 RCV001248800 RCV002390194 RCV004732638
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu)	SNV Germline	Chr11:2776006	Pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Cardiac arrhythmia Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA006028	rs_199473480	10 SubmittersRCV000046008 RCV000057608 RCV000182209 RCV000619557 RCV001841635 RCV001807769
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)	SNV Germline	Chr11:2776033	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome 1 Short QT syndrome type 2 Long QT syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Cardiac arrhythmia Short QT syndrome type 2 Long QT syndrome 1 Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA006147	rs_199472800	14 SubmittersRCV000046012 RCV000057614 RCV000182212 RCV000619418 RCV003319308 RCV002483049 RCV003591637 RCV006257263
NM_000218.3(KCNQ1):c.1697C>A (p.Ser566Tyr)	SNV Germline	Chr11:2776997	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA006206	rs_199472804	4 SubmittersRCV000046014 RCV000057618 RCV000505737 RCV003591638
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)	SNV Germline	Chr11:2776997	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Long QT syndrome 1 not specified Cardiovascular phenotype Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA006211	rs_199472804	13 SubmittersRCV000046015 RCV000057619 RCV000223686 RCV000477954 RCV000678814 RCV002399406 RCV002504937
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr)	SNV Germline	Chr11:2777000	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA006217	rs_199472805	7 SubmittersRCV000046016 RCV000057620 RCV000182217 RCV001258363 RCV001841636 RCV002399407
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)	SNV Germline	Chr11:2777002	Pathogenic/Likely pathogenic	Congenital long QT syndrome Cardiovascular phenotype Condition: not provided not specified Long QT syndrome Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA006232	rs_199472807	8 SubmittersRCV000057622 RCV000250706 RCV000505735 RCV000678815 RCV001192510 RCV002496701
NM_000218.3(KCNQ1):c.1703G>C (p.Gly568Ala)	SNV Germline	Chr11:2777003	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome 1 Cardiovascular phenotype Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA006239	rs_199472806	4 SubmittersRCV000057623 RCV000239705 RCV002408546 RCV005089429
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr)	SNV Germline	Chr11:2778011	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided not specified Long QT syndrome 1 Cardiac arrhythmia Long QT syndrome	Criteria Provided Conflicting Classifications	CA006354	rs_199472813	8 SubmittersRCV000057634 RCV000182224 RCV000223805 RCV001027732 RCV001841637 RCV001852971
NM_000218.3(KCNQ1):c.1771C>T (p.Arg591Cys)	SNV Germline	Chr11:2778014	Pathogenic/Likely pathogenic	Congenital long QT syndrome Cardiac arrhythmia Condition: not provided Long QT syndrome Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA006360	rs_199473483	6 SubmittersRCV000057635 RCV001841638 RCV002223778 RCV002513651 RCV004795975
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His)	SNV Germline	Chr11:2778015	Pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Long QT syndrome Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA006369	rs_199472814	12 SubmittersRCV000057636 RCV000505785 RCV000678914 RCV001388792 RCV002399408 RCV006547566
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	SNV Germline	Chr11:2778024	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Short QT syndrome type 2 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Short QT syndrome type 2 Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA006388	rs_199472815	21 SubmittersRCV000046031 RCV000057637 RCV000182228 RCV000247524 RCV001258107 RCV001731336 RCV002496702 RCV003224128 RCV003591639
NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro)	SNV Germline	Chr11:2778024	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA006395	rs_199472815	5 SubmittersRCV000046032 RCV000057638 RCV000182324 RCV000620919
NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser)	SNV Germline	Chr11:2445117	Conflicting classifications of pathogenicity	Congenital long QT syndrome not specified Long QT syndrome 1 Long QT syndrome Condition: not provided Long QT syndrome 1 Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA006651	rs_199473443	9 SubmittersRCV000057653 RCV000454712 RCV000495985 RCV001305107 RCV002223779 RCV002483050 RCV004018946
NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys)	SNV Germline	Chr11:2445430	Pathogenic	Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA006810	rs_199472678	8 SubmittersRCV000057659 RCV000182260 RCV002321544 RCV002513652 RCV004786322
NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro)	SNV Germline	Chr11:2445439	Likely pathogenic	Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA006819	rs_199473448	3 SubmittersRCV000057660 RCV001378785 RCV002453354
NM_000218.3(KCNQ1):c.344A>G (p.Glu115Gly)	SNV Germline	Chr11:2445442	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA006838	rs_199472679	4 SubmittersRCV000057661 RCV001312785 RCV002453355 RCV005000991
NM_000218.3(KCNQ1):c.365G>A (p.Cys122Tyr)	SNV Germline	Chr11:2445463	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Conflicting Classifications	CA006889	rs_199472681	3 SubmittersRCV000057664 RCV000182262 RCV001368545
NM_000218.3(KCNQ1):c.409C>T (p.Leu137Phe)	SNV Germline	Chr11:2527950	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Conflicting Classifications	CA007018	rs_199473450	3 SubmittersRCV000057671 RCV000182252 RCV001852976
NM_000218.3(KCNQ1):c.477+5G>A	SNV Germline	Chr11:2528023	Likely pathogenic	Long QT syndrome Condition: not provided Long QT syndrome 1 Congenital long QT syndrome Cardiac arrhythmia Cardiovascular phenotype Short QT syndrome type 2 Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome Long QT syndrome 1	Reviewed By Expert Panel	CA007174	rs_397508111	17 SubmittersRCV000046061 RCV000182254 RCV000851189 RCV000826192 RCV001841645 RCV002336179 RCV005862751
NM_000218.3(KCNQ1):c.478G>A (p.Glu160Lys)	SNV Germline	Chr11:2570628	Conflicting classifications of pathogenicity	Congenital long QT syndrome Cardiovascular phenotype Long QT syndrome	Criteria Provided Conflicting Classifications	CA007208	rs_199473453	3 SubmittersRCV000057681 RCV002336180 RCV002514225
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)	SNV Germline	Chr11:2570652	Pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Cardiovascular phenotype Cardiac arrhythmia Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA007263	rs_179489	14 SubmittersRCV000046066 RCV000057684 RCV000223900 RCV000234807 RCV000588586 RCV001841646 RCV004795976
NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg)	SNV Germline	Chr11:2570652	Pathogenic	Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007272	rs_179489	7 SubmittersRCV000057685 RCV000182077 RCV000618982 RCV000627154
NM_000218.3(KCNQ1):c.506C>G (p.Thr169Arg)	SNV Germline	Chr11:2570656	Likely pathogenic	Congenital long QT syndrome Long QT syndrome 1	Criteria Provided Single Submitter	CA007290	rs_199472693	2 SubmittersRCV000057686 RCV003319309
NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter)	SNV Germline	Chr11:2570663	Pathogenic	Long QT syndrome Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Long QT syndrome 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA007295	rs_139042529	4 SubmittersRCV000046070 RCV002490607 RCV004018949 RCV005252717
NM_000218.3(KCNQ1):c.518T>A (p.Val173Asp)	SNV Germline	Chr11:2570668	Pathogenic	Congenital long QT syndrome Recurrent spontaneous abortion	Criteria Provided Single Submitter	CA007313	rs_199472695	2 SubmittersRCV000057688 RCV001530975
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)	SNV Germline	Chr11:2570670	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Cardiac arrhythmia Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Long QT syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA007321	rs_199472696	14 SubmittersRCV000046072 RCV000057689 RCV000182078 RCV000587627 RCV001841647 RCV002504938 RCV002345338
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)	SNV Germline	Chr11:2570671	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Long QT syndrome Short QT syndrome type 2 Long QT syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Jervell and Lange-Nielsen syndrome 1 Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA007329	rs_199472697	10 SubmittersRCV000057690 RCV000223741 RCV000984322 RCV001386000 RCV002496703 RCV002336182 RCV006547567
NM_000218.3(KCNQ1):c.521G>C (p.Arg174Pro)	SNV Germline	Chr11:2570671	Likely pathogenic	Congenital long QT syndrome Cardiovascular phenotype	Criteria Provided Single Submitter	CA007337	rs_199472697	2 SubmittersRCV000057691 RCV003162398
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)	SNV Germline	Chr11:2570682	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Long QT syndrome 1 Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA007353	rs_120074177	14 SubmittersRCV000057692 RCV000148553 RCV000182081 RCV000244422 RCV001028063 RCV001258060 RCV003591642
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)	SNV Germline	Chr11:2570685	Pathogenic	Congenital long QT syndrome Long QT syndrome Long QT syndrome 1 Condition: not provided Cardiovascular phenotype Cardiac arrhythmia KCNQ1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA007379	rs_199473394	17 SubmittersRCV000057694 RCV000148544 RCV000234794 RCV000505781 RCV000620835 RCV001841648 RCV004542712
NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser)	SNV Germline	Chr11:2570701	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA007421	rs_199473397	4 SubmittersRCV000057698 RCV000988472 RCV002345339
NM_000218.3(KCNQ1):c.556G>C (p.Gly186Arg)	SNV Germline	Chr11:2570706	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA007440	rs_199473398	3 SubmittersRCV000057700 RCV001379025 RCV002223780
NM_000218.3(KCNQ1):c.560T>C (p.Leu187Pro)	SNV Germline	Chr11:2570710	Conflicting classifications of pathogenicity	Long QT syndrome Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007460	rs_199473399	5 SubmittersRCV000046081 RCV000057701 RCV000182084 RCV003319310 RCV004017352
NM_000218.3(KCNQ1):c.566G>A (p.Gly189Glu)	SNV Germline	Chr11:2570716	Likely pathogenic	Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA007497	rs_199473400	5 SubmittersRCV000057704 RCV003996475 RCV004017353 RCV005402829
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp)	SNV Germline	Chr11:2570718	Pathogenic/Likely pathogenic	Congenital long QT syndrome Cardiovascular phenotype Long QT syndrome Condition: not provided Long QT syndrome 1 Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Long QT syndrome 1 Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA007529	rs_199473662	13 SubmittersRCV000057705 RCV000244400 RCV001380572 RCV001705704 RCV002259313 RCV004795977 RCV005402830
NM_000218.3(KCNQ1):c.572T>C (p.Leu191Pro)	SNV Germline	Chr11:2570722	Pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA007572	rs_199473401	2 SubmittersRCV000057708 RCV006461315
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)	SNV Germline	Chr11:2570754	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome Long QT syndrome 1 Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Long QT syndrome 1 Jervell and Lange-Nielsen syndrome Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA007717	rs_199472702	14 SubmittersRCV000057718 RCV000182091 RCV000620936 RCV001379267 RCV002483052 RCV003236664 RCV003492374 RCV003591645
NM_000218.3(KCNQ1):c.612C>G (p.Ile204Met)	SNV Germline	Chr11:2571332	Conflicting classifications of pathogenicity	Long QT syndrome Congenital long QT syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA007766	rs_199473455	3 SubmittersRCV000046098 RCV000057722 RCV001507784
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met)	SNV Germline	Chr11:2571363	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiac arrhythmia Cardiovascular phenotype Long QT syndrome 1	Criteria Provided Conflicting Classifications	CA007820	rs_17215479	9 SubmittersRCV000057727 RCV000255103 RCV001295604 RCV003591646 RCV004018950 RCV003485533
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)	SNV Germline	Chr11:2571394	Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Cardiac arrhythmia Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Long QT syndrome 1 Cardiovascular phenotype KCNQ1-related disorder	Reviewed By Expert Panel	CA007870	rs_199473456	14 SubmittersRCV000046103 RCV000057730 RCV000182302 RCV001256914 RCV001841649 RCV002504939 RCV002362677 RCV003335079
NM_000218.3(KCNQ1):c.683+5G>A	SNV Germline	Chr11:2571408	Conflicting classifications of pathogenicity	Condition: not provided not specified Long QT syndrome Long QT syndrome 1 Cardiac arrhythmia Cardiovascular phenotype Long QT syndrome 1 Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3	Criteria Provided Conflicting Classifications	CA007901	rs_397508122	13 SubmittersRCV000182098 RCV001255476 RCV001389794 RCV002267608 RCV001841650 RCV002362678 RCV005042126
NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp)	SNV Germline	Chr11:2572015	Pathogenic/Likely pathogenic	Congenital long QT syndrome Atrial fibrillation, familial, 3 Condition: not provided Long QT syndrome KCNQ1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA007911	rs_199472708	5 SubmittersRCV000057732 RCV000115009 RCV000182099 RCV001320480 RCV003335080
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)	SNV Germline	Chr11:2572020	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Long QT syndrome Cardiovascular phenotype Cardiac arrhythmia Short QT syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA007919	rs_199473457	13 SubmittersRCV000057733 RCV000182100 RCV000240642 RCV001385527 RCV002362679 RCV003591647 RCV006436418
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His)	SNV Germline	Chr11:2572021	Pathogenic	Long QT syndrome Congenital long QT syndrome Atrial fibrillation, familial, 3 Long QT syndrome 1 Condition: not provided Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Long QT syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA007925	rs_199472709	9 SubmittersRCV000046107 RCV000057734 RCV000115007 RCV000115008 RCV000182101 RCV000762833 RCV002371883
NM_000218.3(KCNQ1):c.704T>A (p.Ile235Asn)	SNV Germline	Chr11:2572033	Pathogenic	Long QT syndrome Congenital long QT syndrome Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA007935	rs_199472710	3 SubmittersRCV000046108 RCV000057735 RCV001841651
NM_000218.3(KCNQ1):c.716T>C (p.Leu239Pro)	SNV Germline	Chr11:2572045	Conflicting classifications of pathogenicity	Congenital long QT syndrome Cardiovascular phenotype Long QT syndrome	Criteria Provided Conflicting Classifications	CA007953	rs_199473458	3 SubmittersRCV000057736 RCV002371884 RCV005089430
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn)	SNV Germline	Chr11:2572053	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Wolff-Parkinson-White pattern Cardiovascular phenotype Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA007986	rs_199472712	9 SubmittersRCV000046110 RCV000057738 RCV000182103 RCV000656159 RCV002371885 RCV003319312
NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys)	SNV Germline	Chr11:2572056	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Cardiac arrhythmia Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA008011	rs_199472713	8 SubmittersRCV000046111 RCV000057741 RCV000255620 RCV002381342 RCV003591648 RCV004786323
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)	SNV Germline	Chr11:2572057	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Cardiac arrhythmia Jervell and Lange-Nielsen syndrome 1 Cardiovascular phenotype Jervell and Lange-Nielsen syndrome Long QT syndrome 1 KCNQ1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA008018	rs_120074196	9 SubmittersRCV000057742 RCV001385528 RCV001841652 RCV001807770 RCV002381343 RCV003482908 RCV004786324 RCV004542713
NM_000218.3(KCNQ1):c.752T>C (p.Leu251Pro)	SNV Germline	Chr11:2572081	Pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008083	rs_199472716	4 SubmittersRCV000057748 RCV000182106 RCV001258361 RCV001852977
NM_000218.3(KCNQ1):c.760G>T (p.Val254Leu)	SNV Germline	Chr11:2572089	Likely pathogenic	Congenital long QT syndrome Cardiovascular phenotype	Criteria Provided Single Submitter	CA008142	rs_120074179	2 SubmittersRCV000057751 RCV000620025
NM_000218.3(KCNQ1):c.773A>G (p.His258Arg)	SNV Germline	Chr11:2572102	Likely pathogenic	Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA008167	rs_199472718	4 SubmittersRCV000057754 RCV000182111 RCV004018951 RCV006249577
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)	SNV Germline	Chr11:2572104	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome 1 Monogenic hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA008177	rs_199472719	14 SubmittersRCV000046123 RCV000057755 RCV000223916 RCV000619999 RCV000678929 RCV005859485
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)	SNV Germline	Chr11:2572105	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Cardiac arrhythmia Short QT syndrome type 2 Short QT syndrome type 2 Long QT syndrome 1 Atrial fibrillation, familial, 3 KCNQ1-related disorder Cardiovascular phenotype Short QT syndrome type 2 Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA008184	rs_199472720	15 SubmittersRCV000046124 RCV000057756 RCV000182113 RCV000709733 RCV001841653 RCV001843471 RCV001814031 RCV001813753 RCV002408548 RCV004819214
NM_000218.3(KCNQ1):c.776G>T (p.Arg259Leu)	SNV Germline	Chr11:2572105	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA008191	rs_199472720	4 SubmittersRCV000057757 RCV000182114 RCV001390400 RCV002408549
NM_000218.3(KCNQ1):c.781G>A (p.Glu261Lys)	SNV Germline	Chr11:2572846	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA008215	rs_199472722	3 SubmittersRCV000057758 RCV001368546 RCV004018952
NM_000218.3(KCNQ1):c.783G>C (p.Glu261Asp)	SNV Germline	Chr11:2572848	Pathogenic	Congenital long QT syndrome Long QT syndrome Condition: not provided Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA008229	rs_199472721	5 SubmittersRCV000057760 RCV001381194 RCV004696660 RCV005402831
NM_000218.3(KCNQ1):c.794C>T (p.Thr265Ile)	SNV Germline	Chr11:2572859	Pathogenic	Congenital long QT syndrome Condition: not provided	Criteria Provided Single Submitter	CA008246	rs_199472724	2 SubmittersRCV000057762 RCV000182115
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)	SNV Germline	Chr11:2572862	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome 1 Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Long QT syndrome 1 Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA008262	rs_199473460	15 SubmittersRCV000046131 RCV000057763 RCV000182116 RCV000250332 RCV002483053 RCV004786325 RCV005401309
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp)	SNV Germline	Chr11:2572880	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Beckwith-Wiedemann syndrome Short QT syndrome type 2 Atrial fibrillation, familial, 3 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA008316	rs_199472726	6 SubmittersRCV000046134 RCV000057767 RCV000523854 RCV002415500 RCV002490608
NM_000218.3(KCNQ1):c.818T>G (p.Leu273Arg)	SNV Germline	Chr11:2572883	Likely pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA008339	rs_199472727	2 SubmittersRCV000057770 RCV001852978
NM_000218.3(KCNQ1):c.830C>G (p.Ser277Trp)	SNV Germline	Chr11:2572895	Pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008428	rs_199472730	3 SubmittersRCV000046141 RCV000057774 RCV000182308
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu)	SNV Germline	Chr11:2572895	Pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome 1 Cardiac arrhythmia KCNQ1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA008437	rs_199472730	13 SubmittersRCV000046142 RCV000057775 RCV000182123 RCV000619785 RCV003319313 RCV003591649 RCV004528256
NM_000218.3(KCNQ1):c.839T>A (p.Val280Glu)	SNV Germline	Chr11:2572904	Pathogenic/Likely pathogenic	Long QT syndrome Congenital long QT syndrome Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA008454	rs_199473462	3 SubmittersRCV000046143 RCV000057777 RCV001841654
NM_000218.3(KCNQ1):c.910T>C (p.Trp304Arg)	SNV Germline	Chr11:2572975	Pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA008598	rs_199473466	2 SubmittersRCV000057794 RCV003531945
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter)	SNV Germline	Chr11:2572979	Pathogenic	Long QT syndrome Condition: not provided Cardiovascular phenotype Congenital long QT syndrome Cardiac arrhythmia Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Long QT syndrome 1 Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA008615	rs_120074186	10 SubmittersRCV000046150 RCV000254708 RCV000619717 RCV000826193 RCV001841658 RCV002496704 RCV006249578
NM_000218.3(KCNQ1):c.921+1G>T	SNV Germline	Chr11:2572987	Pathogenic/Likely pathogenic	Condition: not provided Long QT syndrome Beckwith-Wiedemann syndrome Short QT syndrome type 2 Atrial fibrillation, familial, 3 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA008659	rs_397508130	5 SubmittersRCV000182134 RCV001377884 RCV002496705 RCV002444508
NM_000218.3(KCNQ1):c.926C>T (p.Thr309Ile)	SNV Germline	Chr11:2583439	Pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA008720	rs_199472743	2 SubmittersRCV000057803 RCV001379437
NM_000218.3(KCNQ1):c.928G>A (p.Val310Ile)	SNV Germline	Chr11:2583441	Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA008728	rs_199472745	5 SubmittersRCV000057804 RCV000520168 RCV001852980 RCV003591650
NM_000218.3(KCNQ1):c.932C>T (p.Thr311Ile)	SNV Germline	Chr11:2583445	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Long QT syndrome 1	Criteria Provided Conflicting Classifications	CA008752	rs_199472746	4 SubmittersRCV000057807 RCV002513653 RCV003319314
NM_000218.3(KCNQ1):c.940G>C (p.Gly314Arg)	SNV Germline	Chr11:2583453	Pathogenic/Likely pathogenic	Congenital long QT syndrome Cardiovascular phenotype Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008777	rs_120074184	3 SubmittersRCV000057811 RCV000621036 RCV005089431
NM_000218.3(KCNQ1):c.941G>A (p.Gly314Asp)	SNV Germline	Chr11:2583454	Pathogenic	Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008793	rs_199472748	4 SubmittersRCV000057813 RCV001555578 RCV002444509 RCV002514226
NM_000218.3(KCNQ1):c.944A>C (p.Tyr315Ser)	SNV Germline	Chr11:2583457	Pathogenic	Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008803	rs_74462309	4 SubmittersRCV000057815 RCV001387949 RCV002371888 RCV003156223
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys)	SNV Germline	Chr11:2583457	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Cardiovascular phenotype Long QT syndrome Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA008807	rs_74462309	12 SubmittersRCV000057816 RCV000182138 RCV000709732 RCV000619103 RCV000678812 RCV005402832
NM_000218.3(KCNQ1):c.944A>T (p.Tyr315Phe)	SNV Germline	Chr11:2583457	Likely pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA008817	rs_74462309	2 SubmittersRCV000057817 RCV003531946
NM_000218.3(KCNQ1):c.946G>A (p.Gly316Arg)	SNV Germline	Chr11:2583459	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA008823	rs_104894255	4 SubmittersRCV000057818 RCV000182139 RCV001368547 RCV003327365
NM_000218.3(KCNQ1):c.947G>A (p.Gly316Glu)	SNV Germline	Chr11:2583460	Pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA008848	rs_199472749	2 SubmittersRCV000057820 RCV005089432
NM_000218.3(KCNQ1):c.949G>A (p.Asp317Asn)	SNV Germline	Chr11:2583462	Pathogenic	Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008869	rs_199472751	4 SubmittersRCV000057822 RCV000182310 RCV000586037 RCV001389796
NM_000218.3(KCNQ1):c.959C>A (p.Pro320His)	SNV Germline	Chr11:2583472	Pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA008917	rs_199473470	2 SubmittersRCV000057828 RCV001387950
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala)	SNV Germline	Chr11:2583477	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Long QT syndrome 1 Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA008936	rs_199472754	8 SubmittersRCV000057829 RCV000182147 RCV001386679 RCV001258360 RCV002381344 RCV006547569
NM_000218.3(KCNQ1):c.965C>A (p.Thr322Lys)	SNV Germline	Chr11:2583478	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome 1 Cardiovascular phenotype Long QT syndrome	Criteria Provided Conflicting Classifications	CA008945	rs_199472755	4 SubmittersRCV000057830 RCV000853590 RCV004017356 RCV004806046
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met)	SNV Germline	Chr11:2583478	Pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype Long QT syndrome 1 Short QT syndrome type 2 Long QT syndrome 1 Atrial fibrillation, familial, 3 Jervell and Lange-Nielsen syndrome 1 Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA008957	rs_199472755	9 SubmittersRCV000057831 RCV000182149 RCV000190213 RCV000247480 RCV004786326 RCV005357373 RCV006547570
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg)	SNV Germline	Chr11:2583486	Pathogenic	Long QT syndrome Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA008972	rs_199472756	11 SubmittersRCV000046184 RCV000057832 RCV000182150 RCV001248782 RCV002371889
NM_000218.3(KCNQ1):c.1016T>A (p.Phe339Tyr)	SNV Germline	Chr11:2583529	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Long QT syndrome 1	Criteria Provided Conflicting Classifications	CA004833	rs_199472759	3 SubmittersRCV000057524 RCV000703853 RCV000755757
NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly)	SNV Germline	Chr11:2583535	Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA004889	rs_12720459	4 SubmittersRCV000057527 RCV000182145 RCV002513746 RCV003333023
NM_000218.3(KCNQ1):c.1031C>A (p.Ala344Glu)	SNV Germline	Chr11:2583544	Pathogenic/Likely pathogenic	Congenital long QT syndrome not specified Cardiovascular phenotype Long QT syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA004955	rs_199472763	5 SubmittersRCV000057533 RCV000223742 RCV000617913 RCV001212181 RCV004696675
NM_000218.3(KCNQ1):c.1078A>G (p.Arg360Gly)	SNV Germline	Chr11:2585257	Pathogenic	Congenital long QT syndrome Condition: not provided	Criteria Provided Single Submitter	CA005181	rs_199473406	2 SubmittersRCV000057545 RCV005003449
NM_000218.3(KCNQ1):c.1135T>C (p.Trp379Arg)	SNV Germline	Chr11:2587576	Conflicting classifications of pathogenicity	SUDDEN INFANT DEATH SYNDROME Long QT syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA005370	rs_199472768	5 SubmittersRCV000057559 RCV000462343 RCV000505766
NM_000218.3(KCNQ1):c.1174T>C (p.Trp392Arg)	SNV Germline	Chr11:2587615	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided	No Assertion Criteria Provided	CA005449	rs_199472774	3 SubmittersRCV000057568 RCV001701653
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)	SNV Germline	Chr11:2587620	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome not specified Atrial fibrillation, familial, 3 Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Cardiomyopathy Long QT syndrome 1 Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA005477	rs_12720457	22 SubmittersRCV000057570 RCV000148543 RCV000154657 RCV000305127 RCV000394030 RCV000306809 RCV000852645 RCV001094051 RCV002336208 RCV001841659
NM_000218.3(KCNQ1):c.1338C>G (p.Asp446Glu)	SNV Germline	Chr11:2588799	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Cardiac arrhythmia Condition: not provided	Criteria Provided Conflicting Classifications	CA005607	rs_199472780	5 SubmittersRCV000057577 RCV001500920 RCV001841661 RCV006272365
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln)	SNV Germline	Chr11:2588813	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome type 2 Atrial fibrillation, familial, 3 Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA005664	rs_199472781	9 SubmittersRCV000057581 RCV000148550 RCV001104828 RCV001104830 RCV001104620 RCV001104829 RCV001841665 RCV002381370
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)	SNV Germline	Chr11:2588816	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Long QT syndrome Long QT syndrome 1 Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome not specified Cardiac arrhythmia Long QT syndrome 1 Short QT syndrome type 2 Atrial fibrillation, familial, 3	Criteria Provided Conflicting Classifications	CA005679	rs_145229963	9 SubmittersRCV000057583 RCV000246256 RCV000297971 RCV000764975 RCV001255594 RCV001841666 RCV003448257
NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln)	SNV Germline	Chr11:2768882	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Condition: not provided not specified Cardiac arrhythmia Long QT syndrome 1 Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA005903	rs_145974930	10 SubmittersRCV000057593 RCV000148557 RCV000505803 RCV001824592 RCV001841668 RCV002483092 RCV003162436
NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His)	SNV Germline	Chr11:2768885	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Short QT syndrome type 2 Cardiac arrhythmia Cardiovascular phenotype KCNQ1-related disorder	Criteria Provided Conflicting Classifications	CA005923	rs_199472788	9 SubmittersRCV000057596 RCV000543065 RCV000988473 RCV001104917 RCV001106072 RCV001104916 RCV001841670 RCV004018993 RCV004537258
NM_000218.3(KCNQ1):c.1565A>C (p.Tyr522Ser)	SNV Germline	Chr11:2768894	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA005936	rs_199472789	4 SubmittersRCV000057598 RCV000182200 RCV002399418
NM_000218.3(KCNQ1):c.1574C>T (p.Ala525Val)	SNV Germline	Chr11:2768903	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Long QT syndrome 1	Criteria Provided Conflicting Classifications	CA005956	rs_199472791	3 SubmittersRCV000057601 RCV001854180 RCV003319316
NM_000218.3(KCNQ1):c.1597C>T (p.Arg533Trp)	SNV Germline	Chr11:2775966	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome 1 Long QT syndrome Cardiac arrhythmia Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA005979	rs_199472793	7 SubmittersRCV000057603 RCV000234802 RCV000456908 RCV001841671 RCV002223181 RCV003162437
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln)	SNV Germline	Chr11:2775985	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Cardiovascular phenotype Long QT syndrome Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA006001	rs_199472794	6 SubmittersRCV000057605 RCV000182207 RCV000584804 RCV000619224 RCV000556413 RCV001841672
NM_000218.3(KCNQ1):c.1663C>A (p.Arg555Ser)	SNV Germline	Chr11:2776032	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiac arrhythmia Long QT syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA006138	rs_120074185	7 SubmittersRCV000057612 RCV000479287 RCV001226497 RCV003591657 RCV004786336
NM_000218.3(KCNQ1):c.1669A>G (p.Lys557Glu)	SNV Germline	Chr11:2776038	Pathogenic	Congenital long QT syndrome Cardiovascular phenotype Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA006153	rs_199472801	4 SubmittersRCV000057615 RCV000249066 RCV000489493 RCV001380059
NM_000218.3(KCNQ1):c.1685G>T (p.Arg562Met)	SNV Germline	Chr11:2776054	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome	Criteria Provided Conflicting Classifications	CA006176	rs_199472802	3 SubmittersRCV000057616 RCV002513747
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His)	SNV Germline	Chr11:2777991	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiac arrhythmia Long QT syndrome 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA006304	rs_199473482	11 SubmittersRCV000057629 RCV000182220 RCV000557272 RCV001841675 RCV002054904 RCV003298107
NM_000218.3(KCNQ1):c.1799C>T (p.Thr600Met)	SNV Germline	Chr11:2847771	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype Condition: not provided Cardiac arrhythmia KCNQ1-related disorder not specified	Criteria Provided Conflicting Classifications	CA006439	rs_34516117	8 SubmittersRCV000057641 RCV000148552 RCV000242195 RCV000859076 RCV001841677 RCV004542725 RCV004700359
NM_000218.3(KCNQ1):c.1831G>T (p.Asp611Tyr)	SNV Germline	Chr11:2847803	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome	Criteria Provided Conflicting Classifications	CA006483	rs_147445322	3 SubmittersRCV000057644 RCV002513748
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser)	SNV Germline	Chr11:2847833	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome not specified Long QT syndrome 1 Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA006526	rs_199472820	8 SubmittersRCV000057646 RCV000471820 RCV000484989 RCV000763730 RCV001841679 RCV003372614
NM_000218.3(KCNQ1):c.401T>C (p.Leu134Pro)	SNV Germline	Chr11:2527942	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA006992	rs_199472685	5 SubmittersRCV000057669 RCV000182326 RCV001067053 RCV006342099
NM_000218.3(KCNQ1):c.421G>A (p.Val141Met)	SNV Germline	Chr11:2527962	Pathogenic	Atrial fibrillation Short QT syndrome type 2 Long QT syndrome Condition: not provided Cardiovascular phenotype KCNQ1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA007045	rs_199472687	9 SubmittersRCV000057674 RCV000417071 RCV000468931 RCV000494365 RCV000621525 RCV005250009
NM_000218.3(KCNQ1):c.430A>G (p.Thr144Ala)	SNV Germline	Chr11:2527971	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007072	rs_199473451	4 SubmittersRCV000057675 RCV000463475 RCV000489920 RCV000618499
NM_000218.3(KCNQ1):c.550T>C (p.Tyr184His)	SNV Germline	Chr11:2570700	Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA007405	rs_199473661	4 SubmittersRCV000057697 RCV000182297 RCV001349041 RCV006547577
NM_000218.3(KCNQ1):c.556G>A (p.Gly186Ser)	SNV Germline	Chr11:2570706	Likely pathogenic	Congenital long QT syndrome Long QT syndrome 1 Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007432	rs_199473398	3 SubmittersRCV000057699 RCV000779057 RCV003996517
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu)	SNV Germline	Chr11:2570719	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome 1 Long QT syndrome Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA007551	rs_120074178	11 SubmittersRCV000057707 RCV000182299 RCV000678947 RCV000698459 RCV001841685 RCV002345367
NM_000218.3(KCNQ1):c.575G>A (p.Arg192His)	SNV Germline	Chr11:2570725	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome Long QT syndrome 1 Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007593	rs_199472698	9 SubmittersRCV000057709 RCV000182300 RCV000530014 RCV001253678 RCV001841686 RCV003162438
NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp)	SNV Germline	Chr11:2570733	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Cardiac arrhythmia Long QT syndrome 1 Short QT syndrome type 2 Jervell and Lange-Nielsen syndrome 1 Atrial fibrillation, familial, 3 Beckwith-Wiedemann syndrome Cardiovascular phenotype not specified Atrial fibrillation	Criteria Provided Conflicting Classifications	CA007637	rs_150172393	9 SubmittersRCV000057713 RCV000148554 RCV001841687 RCV002483094 RCV003162439 RCV003993784 RCV004772836
NM_000218.3(KCNQ1):c.595T>G (p.Ser199Ala)	SNV Germline	Chr11:2570745	Pathogenic	Congenital long QT syndrome Long QT syndrome 1	Criteria Provided Single Submitter	CA007685	rs_199472701	2 SubmittersRCV000057716 RCV003227632
NM_000218.3(KCNQ1):c.608T>C (p.Leu203Pro)	SNV Germline	Chr11:2571328	Pathogenic	Congenital long QT syndrome Long QT syndrome 1	Criteria Provided Single Submitter	CA007745	rs_199472823	2 SubmittersRCV000057720 RCV003330079
NM_000218.3(KCNQ1):c.625T>C (p.Ser209Pro)	SNV Germline	Chr11:2571345	Pathogenic	Atrial fibrillation Atrial fibrillation, familial, 3 Long QT syndrome	Criteria Provided Single Submitter	CA007795	rs_199472705	3 SubmittersRCV000057725 RCV000115006 RCV000232681
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met)	SNV Germline	Chr11:2571391	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Cardiac arrhythmia Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA007860	rs_199472706	9 SubmittersRCV000057729 RCV000754820 RCV001841689 RCV001843472 RCV004018998
NM_000218.3(KCNQ1):c.677C>T (p.Ala226Val)	SNV Germline	Chr11:2571397	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007880	rs_199472707	5 SubmittersRCV000057731 RCV000521709 RCV000821599 RCV002362691
NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr)	SNV Germline	Chr11:2572053	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007996	rs_199472712	4 SubmittersRCV000057739 RCV000182104 RCV000476524
NM_000218.3(KCNQ1):c.727C>A (p.Arg243Ser)	SNV Germline	Chr11:2572056	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008003	rs_199472713	3 SubmittersRCV000057740 RCV000631706 RCV005255562
NM_000218.3(KCNQ1):c.742T>C (p.Trp248Arg)	SNV Germline	Chr11:2572071	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008035	rs_199473459	3 SubmittersRCV000057744 RCV000182105 RCV000631660
NM_000218.3(KCNQ1):c.773A>C (p.His258Pro)	SNV Germline	Chr11:2572102	Pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008159	rs_199472718	3 SubmittersRCV000057753 RCV001545914 RCV001854184
NM_000218.3(KCNQ1):c.781G>C (p.Glu261Gln)	SNV Germline	Chr11:2572846	Likely pathogenic	Congenital long QT syndrome Condition: not provided	Criteria Provided Single Submitter	CA008221	rs_199472722	2 SubmittersRCV000057759 RCV000493609
NM_000218.3(KCNQ1):c.803T>G (p.Ile268Ser)	SNV Germline	Chr11:2572868	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA008270	rs_199472725	4 SubmittersRCV000057764 RCV000182117 RCV000466406 RCV004018999
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)	SNV Germline	Chr11:2572885	Conflicting classifications of pathogenicity	Congenital long QT syndrome SUDDEN INFANT DEATH SYNDROME Condition: not provided not specified Long QT syndrome Short QT syndrome type 2 Atrial fibrillation, familial, 3 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA008353	rs_199472728	11 SubmittersRCV000057771 RCV000148546 RCV000182121 RCV000219577 RCV001080930 RCV001108024 RCV001108025 RCV001102797 RCV001108026 RCV001841690 RCV002426616
NM_000218.3(KCNQ1):c.842A>G (p.Tyr281Cys)	SNV Germline	Chr11:2572907	Likely pathogenic	Congenital long QT syndrome Condition: not provided	Criteria Provided Single Submitter	CA008464	rs_199472732	2 SubmittersRCV000057778 RCV005644504
NM_000218.3(KCNQ1):c.845T>C (p.Leu282Pro)	SNV Germline	Chr11:2572910	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA008471	rs_199472733	3 SubmittersRCV000057779 RCV001854185 RCV004019000
NM_000218.3(KCNQ1):c.848C>G (p.Ala283Gly)	SNV Germline	Chr11:2572913	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Conflicting Classifications	CA008478	rs_199473463	3 SubmittersRCV000057780 RCV000520786 RCV003531950
NM_000218.3(KCNQ1):c.850G>A (p.Glu284Lys)	SNV Germline	Chr11:2572915	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA008486	rs_199472734	4 SubmittersRCV000057781 RCV000182125 RCV000204994 RCV002444516
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys)	SNV Germline	Chr11:2572942	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome 1 Atrial fibrillation, familial, 3 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA008527	rs_199472737	13 SubmittersRCV000057785 RCV000148555 RCV000182127 RCV000621242 RCV000678913 RCV001331076 RCV001841692
NM_000218.3(KCNQ1):c.878G>A (p.Arg293His)	SNV Germline	Chr11:2572943	Conflicting classifications of pathogenicity	Condition: not provided not specified Long QT syndrome 1 Cardiac arrhythmia Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA008532	rs_199473465	7 SubmittersRCV000057786 RCV000182309 RCV001258359 RCV001841693 RCV002513751 RCV004019001
NM_000218.3(KCNQ1):c.887T>C (p.Phe296Ser)	SNV Germline	Chr11:2572952	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome	Criteria Provided Conflicting Classifications	CA008541	rs_199472738	3 SubmittersRCV000057787 RCV001044347
NM_000218.3(KCNQ1):c.905C>A (p.Ala302Glu)	SNV Germline	Chr11:2572970	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA008583	rs_193922365	7 SubmittersRCV000057791 RCV000182129 RCV000689954 RCV002371901 RCV005402840
NM_000218.3(KCNQ1):c.908T>C (p.Leu303Pro)	SNV Germline	Chr11:2572973	Likely pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA008593	rs_199472740	2 SubmittersRCV000057793 RCV002513752
NM_000218.3(KCNQ1):c.916G>C (p.Gly306Arg)	SNV Germline	Chr11:2572981	Pathogenic	Congenital long QT syndrome Long QT syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008640	rs_120074181	3 SubmittersRCV000057798 RCV003159095 RCV003317071
NM_000218.3(KCNQ1):c.950A>G (p.Asp317Gly)	SNV Germline	Chr11:2583463	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008884	rs_199472750	3 SubmittersRCV000057824 RCV001206137 RCV001507785
NM_000238.4(KCNH2):c.1001C>T (p.Pro334Leu)	SNV Germline	Chr7:150957418	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Conflicting Classifications	CA004159	rs_199472888	3 SubmittersRCV000057868 RCV000181776 RCV001055822
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)	SNV Germline	Chr7:150957380	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome not specified Cardiovascular phenotype Long QT syndrome 2 Cardiac arrhythmia KCNH2-related disorder	Criteria Provided Conflicting Classifications	CA004184	rs_138776684	20 SubmittersRCV000057870 RCV000148527 RCV000181777 RCV000619112 RCV000678963 RCV001841694 RCV004549481
NM_000238.4(KCNH2):c.1205A>G (p.His402Arg)	SNV Germline	Chr7:150952777	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA004277	rs_199473506	3 SubmittersRCV000057873 RCV000535219 RCV002460903
NM_000238.4(KCNH2):c.1262C>T (p.Thr421Met)	SNV Germline	Chr7:150952720	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome not specified Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA004350	rs_199472894	6 SubmittersRCV000057880 RCV000181785 RCV000527961 RCV004782038 RCV005401317
NM_000238.4(KCNH2):c.1264G>A (p.Ala422Thr)	SNV Germline	Chr7:150952718	Pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA004358	rs_199472895	3 SubmittersRCV000057881 RCV000181786 RCV003531951
NM_000238.4(KCNH2):c.127T>G (p.Tyr43Asp)	SNV Germline	Chr7:150974891	Pathogenic	Congenital long QT syndrome Short QT syndrome type 1	Criteria Provided Single Submitter	CA004378	rs_199472837	2 SubmittersRCV000057884 RCV002247455
NM_000238.4(KCNH2):c.1280A>C (p.Tyr427Ser)	SNV Germline	Chr7:150952702	Conflicting classifications of pathogenicity	Congenital long QT syndrome Cardiovascular phenotype Long QT syndrome	Criteria Provided Conflicting Classifications	CA004385	rs_199472897	4 SubmittersRCV000057885 RCV000246613 RCV001854188
NM_000238.4(KCNH2):c.1280A>G (p.Tyr427Cys)	SNV Germline	Chr7:150952702	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome 1 Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA004393	rs_199472897	4 SubmittersRCV000057886 RCV000584803 RCV005089474 RCV005403747
NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu)	SNV Germline	Chr7:150952699	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome not specified Cardiac arrhythmia Long QT syndrome 2	Criteria Provided Conflicting Classifications	CA004407	rs_199472899	7 SubmittersRCV000057887 RCV001588889 RCV001854189 RCV003993785 RCV005402841 RCV005862964
NM_000238.4(KCNH2):c.128A>G (p.Tyr43Cys)	SNV Germline	Chr7:150974890	Pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Long QT syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA004427	rs_199472836	4 SubmittersRCV000057889 RCV000181926 RCV000823889 RCV006249580
NM_000238.4(KCNH2):c.1293C>A (p.Phe431Leu)	SNV Germline	Chr7:150952689	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA004434	rs_199472900	4 SubmittersRCV000057890 RCV000481749 RCV001854190 RCV002381372
NM_000238.4(KCNH2):c.1352C>T (p.Pro451Leu)	SNV Germline	Chr7:150952630	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome 2 Long QT syndrome Cardiac arrhythmia Condition: not provided	Criteria Provided Conflicting Classifications	CA004511	rs_199472902	7 SubmittersRCV000057897 RCV000208345 RCV001324448 RCV001841698 RCV004808571
NM_000238.4(KCNH2):c.140G>T (p.Gly47Val)	SNV Germline	Chr7:150974878	Pathogenic	Congenital long QT syndrome Short QT syndrome type 1	Criteria Provided Single Submitter	CA004581	rs_199473490	2 SubmittersRCV000057903 RCV002247456
NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn)	SNV Germline	Chr7:150952564	Conflicting classifications of pathogenicity	Condition: not provided Congenital long QT syndrome	Criteria Provided Conflicting Classifications	CA004603	rs_199472905	3 SubmittersRCV003137596 RCV000057905
NM_000238.4(KCNH2):c.1421C>T (p.Thr474Ile)	SNV Germline	Chr7:150952561	Pathogenic/Likely pathogenic	Condition: not provided Congenital long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA004610	rs_199472906	3 SubmittersRCV000182021 RCV000057906 RCV002390207
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr)	SNV Germline	Chr7:150952508	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome 2 Cardiac arrhythmia Long QT syndrome Short QT syndrome type 1 Short QT syndrome type 1 Long QT syndrome 2 Cardiovascular phenotype KCNH2-related disorder	Criteria Provided Conflicting Classifications	CA004679	rs_199472910	9 SubmittersRCV000057913 RCV000778143 RCV001841700 RCV001854192 RCV002250552 RCV002504961 RCV003343626 RCV004549482
NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys)	SNV Germline	Chr7:150952504	Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA004695	rs_199472911	3 SubmittersRCV000057915 RCV000412722 RCV001207034
NM_000238.4(KCNH2):c.1501G>A (p.Asp501Asn)	SNV Germline	Chr7:150952481	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA004728	rs_199472912	4 SubmittersRCV000057917 RCV000181794 RCV000467289 RCV000618688
NM_000238.4(KCNH2):c.1502A>G (p.Asp501Gly)	SNV Germline	Chr7:150952480	Pathogenic	Congenital long QT syndrome Condition: not provided	Criteria Provided Single Submitter	CA004741	rs_199473513	2 SubmittersRCV000057919 RCV000181795
NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg)	SNV Germline	Chr7:150974861	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA004831	rs_199472842	6 SubmittersRCV000057924 RCV001267970 RCV001841702 RCV002399419
NM_000238.4(KCNH2):c.158G>A (p.Gly53Asp)	SNV Germline	Chr7:150974860	Pathogenic	Congenital long QT syndrome Condition: not provided	Criteria Provided Single Submitter	CA004864	rs_199473491	2 SubmittersRCV000057926 RCV003326345
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp)	SNV Germline	Chr7:150951802	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome not specified Condition: not provided Long QT syndrome 2	Criteria Provided Conflicting Classifications	CA004871	rs_199472915	8 SubmittersRCV000057927 RCV000698598 RCV001269138 RCV001664237 RCV002470743
NM_000238.4(KCNH2):c.1592G>A (p.Arg531Gln)	SNV Germline	Chr7:150951801	Likely pathogenic	Congenital long QT syndrome Cardiovascular phenotype	Criteria Provided Single Submitter	CA004878	rs_199473515	2 SubmittersRCV000057928 RCV004992004
NM_000238.4(KCNH2):c.1600C>T (p.Arg534Cys)	SNV Germline	Chr7:150951793	Pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA004904	rs_199472916	4 SubmittersRCV000057929 RCV000181800 RCV000470519 RCV002399420
NM_000238.4(KCNH2):c.160T>C (p.Tyr54His)	SNV Germline	Chr7:150974858	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Long QT syndrome 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA004937	rs_199472843	4 SubmittersRCV000057932 RCV001854195 RCV005054154 RCV005364952
NM_000238.4(KCNH2):c.164C>T (p.Ser55Leu)	SNV Germline	Chr7:150974854	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype Long QT syndrome 2	Criteria Provided Conflicting Classifications	CA004951	rs_199472844	5 SubmittersRCV000057933 RCV000182049 RCV001320245 RCV002399421 RCV005862965
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser)	SNV Germline	Chr7:150951738	Pathogenic	Congenital long QT syndrome Long QT syndrome 2 Condition: not provided Cardiovascular phenotype Long QT syndrome Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA004960	rs_199472918	11 SubmittersRCV000057934 RCV000208055 RCV000223726 RCV000248595 RCV000543570 RCV003591658
NM_000238.4(KCNH2):c.1673C>A (p.Ala558Glu)	SNV Germline	Chr7:150951720	Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA004976	rs_199472919	3 SubmittersRCV000057936 RCV001703966 RCV001854196
NM_000238.4(KCNH2):c.167G>A (p.Arg56Gln)	SNV Germline	Chr7:150974851	Likely pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA005006	rs_199472845	2 SubmittersRCV000057938 RCV000462413
NM_000238.4(KCNH2):c.1681G>A (p.Ala561Thr)	SNV Germline	Chr7:150951712	Pathogenic	Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA005019	rs_199472921	5 SubmittersRCV000057939 RCV000181805 RCV000619406 RCV001390277
NM_000238.4(KCNH2):c.1681G>C (p.Ala561Pro)	SNV Germline	Chr7:150951712	Pathogenic	Congenital long QT syndrome Cardiovascular phenotype	Criteria Provided Single Submitter	CA005027	rs_199472921	2 SubmittersRCV000057940 RCV000244156
NM_000238.4(KCNH2):c.1685A>C (p.His562Pro)	SNV Germline	Chr7:150951708	Likely pathogenic	Congenital long QT syndrome Long QT syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA005058	rs_199472922	3 SubmittersRCV000057942 RCV002513753 RCV004719688
NM_000238.4(KCNH2):c.1685A>G (p.His562Arg)	SNV Germline	Chr7:150951708	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype Long QT syndrome 2 Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA005065	rs_199472922	6 SubmittersRCV000057943 RCV000544355 RCV002399422 RCV002468562 RCV005402842
NM_000238.4(KCNH2):c.1704G>C (p.Trp568Cys)	SNV Germline	Chr7:150951689	Likely pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA005198	rs_199472926	2 SubmittersRCV000057954 RCV000689953
NM_000238.4(KCNH2):c.1705T>C (p.Tyr569His)	SNV Germline	Chr7:150951688	Likely pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA005214	rs_199473520	2 SubmittersRCV000057956 RCV006461344
NM_000238.4(KCNH2):c.1711A>G (p.Ile571Val)	SNV Germline	Chr7:150951682	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA005235	rs_199472928	4 SubmittersRCV000057958 RCV000436135 RCV000556890 RCV004017367
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser)	SNV Germline	Chr7:150951679	Pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Long QT syndrome 2 Cardiovascular phenotype Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	Criteria Provided Multiple Submitters No Conflicts	CA005241	rs_9333649	10 SubmittersRCV000057959 RCV000181811 RCV000631548 RCV000678923 RCV000619615 RCV004813051
NM_000238.4(KCNH2):c.1715G>T (p.Gly572Val)	SNV Germline	Chr7:150951678	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA005271	rs_199473423	3 SubmittersRCV000057963 RCV000181812 RCV003531953
NM_000238.4(KCNH2):c.172G>A (p.Glu58Lys)	SNV Germline	Chr7:150974846	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA005294	rs_199473413	5 SubmittersRCV000057966 RCV000472868 RCV001582554 RCV005403748
NM_000238.4(KCNH2):c.173A>G (p.Glu58Gly)	SNV Germline	Chr7:150974845	Likely pathogenic	Congenital long QT syndrome Condition: not provided	Criteria Provided Single Submitter	CA005331	rs_199472847	2 SubmittersRCV000057969 RCV000181920
NM_000238.4(KCNH2):c.1745G>T (p.Arg582Leu)	SNV Germline	Chr7:150951648	Likely pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA005353	rs_199473426	2 SubmittersRCV000057971 RCV001377677
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)	SNV Germline	Chr7:150951643	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome 2 Long QT syndrome Long QT syndrome 2 Short QT syndrome type 1 Cardiovascular phenotype Cardiac arrhythmia Short QT syndrome type 1 KCNH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA005371	rs_199473428	14 SubmittersRCV000057974 RCV000181816 RCV000157264 RCV000470290 RCV000477917 RCV000618627 RCV001841704 RCV004562234 RCV005250010
NM_000238.4(KCNH2):c.1750G>T (p.Gly584Cys)	SNV Germline	Chr7:150951643	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Conflicting Classifications	CA005388	rs_199473428	3 SubmittersRCV000057976 RCV000181817 RCV000820068
NM_000238.4(KCNH2):c.1762A>G (p.Asn588Asp)	SNV Germline	Chr7:150951631	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA005415	rs_199473431	3 SubmittersRCV000057979 RCV001854197 RCV002280098
NM_000238.4(KCNH2):c.1777A>G (p.Ile593Val)	SNV Germline	Chr7:150951616	Likely pathogenic	Congenital long QT syndrome Condition: not provided	Criteria Provided Single Submitter	CA005440	rs_199472930	2 SubmittersRCV000057983 RCV005411318
NM_000238.4(KCNH2):c.1778T>A (p.Ile593Lys)	SNV Germline	Chr7:150951615	Pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA005445	rs_28928904	2 SubmittersRCV000057984 RCV000557658
NM_000238.4(KCNH2):c.1778T>C (p.Ile593Thr)	SNV Germline	Chr7:150951615	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome	Criteria Provided Conflicting Classifications	CA005452	rs_28928904	4 SubmittersRCV000057985 RCV000181818 RCV004019003 RCV005089475
NM_000238.4(KCNH2):c.1781G>A (p.Gly594Asp)	SNV Germline	Chr7:150951612	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA005466	rs_199472931	3 SubmittersRCV000057987 RCV001205698 RCV003162441
NM_000238.4(KCNH2):c.1787C>A (p.Pro596His)	SNV Germline	Chr7:150951606	Pathogenic	Congenital long QT syndrome Condition: not provided	Criteria Provided Single Submitter	CA005488	rs_199472933	2 SubmittersRCV000057990 RCV000181819
NM_000238.4(KCNH2):c.1790A>G (p.Tyr597Cys)	SNV Germline	Chr7:150951603	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA005509	rs_199472934	3 SubmittersRCV000057993 RCV000168208 RCV000414552
NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser)	SNV Germline	Chr7:150951592	Pathogenic	Congenital long QT syndrome Long QT syndrome 2 Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA005525	rs_199472936	4 SubmittersRCV000057995 RCV000208241 RCV000233419 RCV000619597
NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser)	SNV Germline	Chr7:150951583	Pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA005546	rs_199473522	6 SubmittersRCV000057997 RCV000181821 RCV000205578 RCV002408563
NM_000238.4(KCNH2):c.1813C>T (p.Pro605Ser)	SNV Germline	Chr7:150951580	Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA005568	rs_199472939	3 SubmittersRCV000057999 RCV003480050 RCV003531955
NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu)	SNV Germline	Chr7:150951579	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Long QT syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA005574	rs_199472938	4 SubmittersRCV000058000 RCV000631723 RCV000735254
NM_000238.4(KCNH2):c.1825G>A (p.Asp609Asn)	SNV Germline	Chr7:150951568	Pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA005592	rs_199472941	3 SubmittersRCV000058002 RCV000413200 RCV000526585
NM_000238.4(KCNH2):c.1826A>G (p.Asp609Gly)	SNV Germline	Chr7:150951567	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA005614	rs_199472940	3 SubmittersRCV000058005 RCV001211004 RCV002408564
NM_000238.4(KCNH2):c.1831T>G (p.Tyr611Asp)	SNV Germline	Chr7:150951562	Likely pathogenic	Congenital long QT syndrome Long QT syndrome	No Assertion Criteria Provided	CA005628	rs_199472942	2 SubmittersRCV000058007 RCV000190215
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)	SNV Germline	Chr7:150951555	Pathogenic/Likely pathogenic	Congenital long QT syndrome Cardiovascular phenotype Condition: not provided Long QT syndrome Short QT syndrome type 1 Long QT syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA005647	rs_199473524	10 SubmittersRCV000058009 RCV000244892 RCV000223761 RCV000527495 RCV001196417 RCV001258357
NM_000238.4(KCNH2):c.1843C>G (p.Leu615Val)	SNV Germline	Chr7:150951550	Likely pathogenic	Congenital long QT syndrome Long QT syndrome 2	Criteria Provided Single Submitter	CA005660	rs_199472945	2 SubmittersRCV000058011 RCV002470744
NM_000238.4(KCNH2):c.1843C>T (p.Leu615Phe)	SNV Germline	Chr7:150951550	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Conflicting Classifications	CA005667	rs_199472945	3 SubmittersRCV000058012 RCV001577623 RCV001854199
NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys)	SNV Germline	Chr7:150951546	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA005674	rs_199472946	3 SubmittersRCV000058013 RCV000157265 RCV000182032
NM_000238.4(KCNH2):c.1853C>T (p.Thr618Ile)	SNV Germline	Chr7:150951540	Pathogenic	Short QT syndrome Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA005690	rs_199472947	3 SubmittersRCV000058015 RCV001376739 RCV002408565
NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn)	SNV Germline	Chr7:150951531	Pathogenic/Likely pathogenic	Congenital long QT syndrome Primary familial hypertrophic cardiomyopathy Long QT syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA005703	rs_199472948	4 SubmittersRCV000058017 RCV000845307 RCV001208803 RCV001781395
NM_000238.4(KCNH2):c.1868C>T (p.Thr623Ile)	SNV Germline	Chr7:150951525	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Long QT syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA005728	rs_199472950	3 SubmittersRCV000058020 RCV003531956 RCV006249581
NM_000238.4(KCNH2):c.1876G>A (p.Gly626Ser)	SNV Germline	Chr7:150951517	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA005743	rs_199472953	3 SubmittersRCV000058022 RCV000240640 RCV001545650
NM_000238.4(KCNH2):c.1879T>C (p.Phe627Leu)	SNV Germline	Chr7:150951514	Pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA005780	rs_199472954	2 SubmittersRCV000058027 RCV002513755
NM_000238.4(KCNH2):c.1881C>G (p.Phe627Leu)	SNV Germline	Chr7:150951512	Pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA005797	rs_199473039	2 SubmittersRCV000058028 RCV005089476
NM_000238.4(KCNH2):c.1885A>G (p.Asn629Asp)	SNV Germline	Chr7:150951508	Pathogenic	Condition: not provided Congenital long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA005840	rs_199472956	3 SubmittersRCV000181822 RCV000058032 RCV005403749
NM_000238.4(KCNH2):c.1886A>C (p.Asn629Thr)	SNV Germline	Chr7:150951507	Pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA005846	rs_199472957	3 SubmittersRCV000058033 RCV000413164 RCV000475088
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser)	SNV Germline	Chr7:150951507	Pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome 2 Short QT syndrome type 1 Long QT syndrome 2 Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA005852	rs_199472957	7 SubmittersRCV000058034 RCV000181823 RCV000678941 RCV000763171 RCV000781486
NM_000238.4(KCNH2):c.1887C>A (p.Asn629Lys)	SNV Germline	Chr7:150951506	Likely pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA005864	rs_41307295	2 SubmittersRCV000058036 RCV001854201
NM_000238.4(KCNH2):c.1888G>C (p.Val630Leu)	SNV Germline	Chr7:150951505	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome 2 Long QT syndrome	Criteria Provided Conflicting Classifications	CA005870	rs_199472958	3 SubmittersRCV000058037 RCV002470745 RCV002513757
NM_000238.4(KCNH2):c.1894C>T (p.Pro632Ser)	SNV Germline	Chr7:150951499	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA005893	rs_199473527	4 SubmittersRCV000058040 RCV000181824 RCV000621397
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser)	SNV Germline	Chr7:150951495	Pathogenic	Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome 2 Long QT syndrome KCNH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA005905	rs_199472961	7 SubmittersRCV000058042 RCV000181825 RCV000617489 RCV000678919 RCV000799027 RCV004549483
NM_000238.4(KCNH2):c.1904A>T (p.Asn635Ile)	SNV Germline	Chr7:150951489	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA005941	rs_199472964	3 SubmittersRCV000058046 RCV001207618 RCV002408566
NM_000238.4(KCNH2):c.1909G>A (p.Glu637Lys)	SNV Germline	Chr7:150951484	Pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA005952	rs_199472968	2 SubmittersRCV000058048 RCV000691309
NM_000238.4(KCNH2):c.1911G>C (p.Glu637Asp)	SNV Germline	Chr7:150951482	Conflicting classifications of pathogenicity	Congenital long QT syndrome Cardiovascular phenotype Long QT syndrome	Criteria Provided Conflicting Classifications	CA005970	rs_199472966	3 SubmittersRCV000058050 RCV002408567 RCV002513758
NM_000238.4(KCNH2):c.1912A>G (p.Lys638Glu)	SNV Germline	Chr7:150951481	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA005976	rs_199473528	3 SubmittersRCV000058051 RCV001854202 RCV005865227
NM_000238.4(KCNH2):c.1920C>A (p.Phe640Leu)	SNV Germline	Chr7:150951473	Pathogenic	Congenital long QT syndrome Long QT syndrome 2	Criteria Provided Single Submitter	CA006030	rs_199472970	2 SubmittersRCV000058055 RCV000234804
NM_000238.4(KCNH2):c.1922C>T (p.Ser641Phe)	SNV Germline	Chr7:150951471	Pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA006035	rs_199472971	2 SubmittersRCV000058056 RCV000803218
NM_000238.4(KCNH2):c.1933A>G (p.Met645Val)	SNV Germline	Chr7:150951460	Pathogenic	Congenital long QT syndrome Condition: not provided	Criteria Provided Single Submitter	CA006050	rs_199472974	2 SubmittersRCV000058060 RCV000181830
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser)	SNV Germline	Chr7:150951097	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA006114	rs_199472978	5 SubmittersRCV000058068 RCV000205745 RCV003162442 RCV004719689
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu)	SNV Germline	Chr7:150951087	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype Long QT syndrome 2 Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA006139	rs_199472979	9 SubmittersRCV000058072 RCV000181833 RCV000468503 RCV000621327 RCV000851290 RCV005402843
NM_000238.4(KCNH2):c.202T>C (p.Phe68Leu)	SNV Germline	Chr7:150974816	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA006163	rs_199473417	3 SubmittersRCV000058075 RCV000181933 RCV004019004
NM_000238.4(KCNH2):c.206T>C (p.Leu69Pro)	SNV Germline	Chr7:150974812	Pathogenic	Congenital long QT syndrome Long QT syndrome 2	Criteria Provided Single Submitter	CA006187	rs_199473665	2 SubmittersRCV000058078 RCV002470746
NM_000238.4(KCNH2):c.2078T>C (p.Leu693Pro)	SNV Germline	Chr7:150950988	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA006194	rs_199472983	5 SubmittersRCV000058079 RCV000181836 RCV000546253 RCV000624294
NM_000238.4(KCNH2):c.209A>G (p.His70Arg)	SNV Germline	Chr7:150974809	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA006229	rs_199473419	5 SubmittersRCV000058083 RCV000181934 RCV000460303 RCV002415513
NM_000238.4(KCNH2):c.211G>C (p.Gly71Arg)	SNV Germline	Chr7:150974807	Pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA006261	rs_199473420	3 SubmittersRCV000058086 RCV000181935 RCV001194446
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln)	SNV Germline	Chr7:150974803	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype Condition: not provided Long QT syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA006293	rs_199473421	8 SubmittersRCV000058088 RCV000463612 RCV000588659 RCV000786141 RCV001258077
NM_000238.4(KCNH2):c.215C>G (p.Pro72Arg)	SNV Germline	Chr7:150974803	Likely pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA006299	rs_199473421	2 SubmittersRCV000058089 RCV000464288
NM_000238.4(KCNH2):c.215C>T (p.Pro72Leu)	SNV Germline	Chr7:150974803	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA006305	rs_199473421	4 SubmittersRCV000058090 RCV000181938 RCV002415514 RCV002513759
NM_000238.4(KCNH2):c.2162C>T (p.Pro721Leu)	SNV Germline	Chr7:150950404	Likely pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA006311	rs_199472986	3 SubmittersRCV000058091 RCV000458802
NM_000238.4(KCNH2):c.221C>G (p.Thr74Arg)	SNV Germline	Chr7:150974797	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Conflicting Classifications	CA006358	rs_199473422	3 SubmittersRCV000058096 RCV000182051 RCV001060143
NM_000238.4(KCNH2):c.221C>T (p.Thr74Met)	SNV Germline	Chr7:150974797	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome Short QT syndrome type 1	Criteria Provided Conflicting Classifications	CA006365	rs_199473422	4 SubmittersRCV000058097 RCV000807020 RCV002247457
NM_000238.4(KCNH2):c.2246G>T (p.Gly749Val)	SNV Germline	Chr7:150950320	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA006377	rs_199472989	3 SubmittersRCV000058098 RCV000181844 RCV000454509
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp)	SNV Germline	Chr7:150950312	Pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype Cardiac arrhythmia Long QT syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA006383	rs_199472990	11 SubmittersRCV000058099 RCV000181845 RCV000631584 RCV000621587 RCV001841706 RCV005623066
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val)	SNV Germline	Chr7:150950300	Conflicting classifications of pathogenicity	Acquired long QT syndrome Long QT syndrome 2 Long QT syndrome	Criteria Provided Conflicting Classifications	CA006412	rs_199473534	5 SubmittersRCV000058102 RCV001031014 RCV002514287
NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr)	SNV Germline	Chr7:150950246	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome 2 Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA006441	rs_199472995	5 SubmittersRCV000058106 RCV000182045 RCV000208316 RCV003531958
NM_000238.4(KCNH2):c.2354G>T (p.Gly785Val)	SNV Germline	Chr7:150950212	Pathogenic	Congenital long QT syndrome Condition: not provided	Criteria Provided Single Submitter	CA006478	rs_199472996	2 SubmittersRCV000058110 RCV004696676
NM_000238.4(KCNH2):c.2362G>A (p.Glu788Lys)	SNV Germline	Chr7:150950204	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome	Criteria Provided Conflicting Classifications	CA006501	rs_199472997	3 SubmittersRCV000058111 RCV000230704
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp)	SNV Germline	Chr7:150950195	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype Condition: not provided Long QT syndrome 2 Cardiac arrhythmia Brugada syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA006525	rs_138498207	13 SubmittersRCV000058113 RCV000148535 RCV000618893 RCV000586962 RCV001162548 RCV001841708 RCV001778698 RCV002228167
NM_000238.4(KCNH2):c.2414T>C (p.Phe805Ser)	SNV Germline	Chr7:150949034	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA006704	rs_199472999	3 SubmittersRCV000058118 RCV000182046 RCV006461346
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys)	SNV Germline	Chr7:150949034	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype Long QT syndrome 2 Short QT syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA006712	rs_199472999	5 SubmittersRCV000058119 RCV000181862 RCV000474113 RCV000621445 RCV005042177
NM_000238.4(KCNH2):c.2417G>A (p.Gly806Glu)	SNV Germline	Chr7:150949031	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA006718	rs_199473000	4 SubmittersRCV000058120 RCV000181863 RCV001362440 RCV003162443
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp)	SNV Germline	Chr7:150948981	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA006812	rs_199473538	7 SubmittersRCV000058126 RCV000234770 RCV000618449 RCV000786142
NM_000238.4(KCNH2):c.2477C>T (p.Thr826Ile)	SNV Germline	Chr7:150948971	Pathogenic	Congenital long QT syndrome Condition: not provided	Criteria Provided Single Submitter	CA006823	rs_199473002	2 SubmittersRCV000058127 RCV000181868
NM_000238.4(KCNH2):c.2509G>A (p.Asp837Asn)	SNV Germline	Chr7:150948939	Pathogenic/Likely pathogenic	Congenital long QT syndrome Long QT syndrome 2 Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA006870	rs_199473005	3 SubmittersRCV000058129 RCV000240628 RCV000631627
NM_000238.4(KCNH2):c.2509G>T (p.Asp837Tyr)	SNV Germline	Chr7:150948939	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Conflicting Classifications	CA006879	rs_199473005	3 SubmittersRCV000058130 RCV002272049 RCV006461347
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly)	SNV Germline	Chr7:150948938	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome Long QT syndrome 2 Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA006888	rs_199473004	10 SubmittersRCV000058131 RCV000181873 RCV000469039 RCV000677334 RCV001841710 RCV002433554
NM_000238.4(KCNH2):c.2536C>T (p.Pro846Ser)	SNV Germline	Chr7:150948912	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype KCNH2-related disorder Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA006916	rs_199473006	6 SubmittersRCV000058133 RCV000181874 RCV000464496 RCV005364953 RCV004549484 RCV006547580
NM_000238.4(KCNH2):c.254C>T (p.Ala85Val)	SNV Germline	Chr7:150974764	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Conflicting Classifications	CA006934	rs_199473494	3 SubmittersRCV000058135 RCV003162444 RCV005089479
NM_000238.4(KCNH2):c.257T>G (p.Leu86Arg)	SNV Germline	Chr7:150974761	Pathogenic	Congenital long QT syndrome Short QT syndrome type 1	Criteria Provided Single Submitter	CA006969	rs_199472851	2 SubmittersRCV000058138 RCV002247458
NM_000238.4(KCNH2):c.260T>C (p.Leu87Pro)	SNV Germline	Chr7:150974758	Likely pathogenic	Congenital long QT syndrome Condition: not provided	No Assertion Criteria Provided	CA007042	rs_199473495	3 SubmittersRCV000058143 RCV001701488
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys)	SNV Germline	Chr7:150948483	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome not specified Cardiac arrhythmia Long QT syndrome 2 Short QT syndrome type 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA007076	rs_143512106	10 SubmittersRCV000058147 RCV000148524 RCV000780364 RCV001841713 RCV002477188 RCV002453373 RCV003884345
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His)	SNV Germline	Chr7:150948476	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Long QT syndrome 2 Condition: not provided not specified Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007095	rs_199473432	9 SubmittersRCV000058148 RCV000148534 RCV000210414 RCV000438782 RCV001193784 RCV001841714 RCV002426617
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met)	SNV Germline	Chr7:150948452	Conflicting classifications of pathogenicity	SUDDEN INFANT DEATH SYNDROME Long QT syndrome Long QT syndrome 2 Long QT syndrome 1 Condition: not provided Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007147	rs_199473434	10 SubmittersRCV000058151 RCV000699702 RCV000988000 RCV001256913 RCV001588890 RCV001841715 RCV004019008
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg)	SNV Germline	Chr7:150947864	Conflicting classifications of pathogenicity	Congenital long QT syndrome not specified Long QT syndrome Cardiovascular phenotype Condition: not provided Cardiac arrhythmia Long QT syndrome 2 Short QT syndrome type 1	Criteria Provided Conflicting Classifications	CA007192	rs_199473669	12 SubmittersRCV000058153 RCV000181883 RCV000465531 RCV000621231 RCV000767043 RCV001841717 RCV002498335
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)	SNV Germline	Chr7:150947854	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Long QT syndrome 2 Short QT syndrome type 1 Condition: not provided Cardiac arrhythmia Long QT syndrome 2 Cardiovascular phenotype KCNH2-related disorder	Criteria Provided Conflicting Classifications	CA007206	rs_199473435	15 SubmittersRCV000058154 RCV000203863 RCV000765943 RCV001699029 RCV001841718 RCV002470748 RCV003298110 RCV004739329
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu)	SNV Germline	Chr7:150947842	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Long QT syndrome not specified Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA007231	rs_199473436	7 SubmittersRCV000058155 RCV000621145 RCV000631580 RCV001731351 RCV001841719
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu)	SNV Germline	Chr7:150947821	Conflicting classifications of pathogenicity	Condition: not provided not specified Long QT syndrome Long QT syndrome 2 Cardiac arrhythmia Cardiovascular phenotype Long QT syndrome 2 Short QT syndrome type 1	Criteria Provided Conflicting Classifications	CA007286	rs_76420733	10 SubmittersRCV000058158 RCV000181888 RCV000699321 RCV001160952 RCV001841720 RCV002433555 RCV002504963
NM_000238.4(KCNH2):c.2759G>A (p.Arg920Gln)	SNV Germline	Chr7:150947812	Conflicting classifications of pathogenicity	Congenital long QT syndrome Cardiovascular phenotype Long QT syndrome Condition: not provided Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA007319	rs_199473670	6 SubmittersRCV000058160 RCV000618714 RCV001058527 RCV001582555 RCV001841722
NM_000238.4(KCNH2):c.2765G>A (p.Arg922Gln)	SNV Germline	Chr7:150947806	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Cardiac arrhythmia Long QT syndrome 2 Short QT syndrome type 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007347	rs_199473439	6 SubmittersRCV000058162 RCV000471859 RCV001841723 RCV002483096 RCV002433556
NM_000238.4(KCNH2):c.2771G>A (p.Gly924Glu)	SNV Germline	Chr7:150947800	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Cardiovascular phenotype Long QT syndrome Long QT syndrome 2 Cardiac arrhythmia Long QT syndrome 2 Short QT syndrome type 1	Criteria Provided Conflicting Classifications	CA007369	rs_199473009	9 SubmittersRCV000058163 RCV000181891 RCV000251484 RCV000817376 RCV000987999 RCV001841724 RCV005042178
NM_000238.4(KCNH2):c.2771G>C (p.Gly924Ala)	SNV Germline	Chr7:150947800	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome not specified Cardiovascular phenotype Short QT syndrome type 1 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA007376	rs_199473009	7 SubmittersRCV000058164 RCV000468983 RCV000454684 RCV000619828 RCV001198823 RCV001841725
NM_000238.4(KCNH2):c.2810G>A (p.Ser937Asn)	SNV Germline	Chr7:150947761	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiac arrhythmia Long QT syndrome 2 Short QT syndrome type 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007468	rs_199473540	9 SubmittersRCV000058166 RCV000181897 RCV000631729 RCV001841726 RCV002490644 RCV004019009
NM_000238.4(KCNH2):c.281T>G (p.Val94Gly)	SNV Germline	Chr7:150974737	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA007478	rs_199472852	3 SubmittersRCV000058167 RCV000809130 RCV004791257
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)	SNV Germline	Chr7:150947728	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome 2 Long QT syndrome not specified Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007504	rs_199473011	12 SubmittersRCV000058170 RCV000182047 RCV000578446 RCV000794762 RCV001358716 RCV001841727 RCV004019010
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val)	SNV Germline	Chr7:150947708	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiac arrhythmia Cardiovascular phenotype not specified Long QT syndrome 2 Short QT syndrome type 1 Primary familial dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA007537	rs_199473012	15 SubmittersRCV000058172 RCV000413036 RCV000509284 RCV001841729 RCV003162447 RCV004700361 RCV005364954 RCV006250248
NM_000238.4(KCNH2):c.2887C>A (p.Pro963Thr)	SNV Germline	Chr7:150947684	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Cardiac arrhythmia Cardiovascular phenotype Long QT syndrome 2 Short QT syndrome type 1 Long QT syndrome	Criteria Provided Conflicting Classifications	CA007577	rs_199473014	7 SubmittersRCV000058176 RCV000756285 RCV001841730 RCV002433557 RCV002483097 RCV003531960
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly)	SNV Germline	Chr7:150947630	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype not specified Long QT syndrome Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA007666	rs_76649554	10 SubmittersRCV000058181 RCV000621297 RCV001002378 RCV001086448 RCV001841734
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile)	SNV Germline	Chr7:150947623	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome not specified Condition: not provided Long QT syndrome 2 Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007674	rs_149955375	14 SubmittersRCV000058182 RCV000148532 RCV000181901 RCV000724866 RCV001159570 RCV001841735 RCV002433559
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile)	SNV Germline	Chr7:150947493	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome 2 Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007728	rs_199473018	5 SubmittersRCV000058185 RCV000181903 RCV001248786 RCV006461348
NM_000238.4(KCNH2):c.298C>T (p.Arg100Trp)	SNV Germline	Chr7:150974720	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA007747	rs_121912515	5 SubmittersRCV000058187 RCV001230350 RCV002433560 RCV006547581
NM_000238.4(KCNH2):c.299G>A (p.Arg100Gln)	SNV Germline	Chr7:150974719	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007764	rs_199472855	4 SubmittersRCV000058188 RCV000181949 RCV001301364 RCV004019011
NM_000238.4(KCNH2):c.301A>G (p.Lys101Glu)	SNV Germline	Chr7:150974717	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome Short QT syndrome type 1	Criteria Provided Conflicting Classifications	CA007817	rs_199472856	4 SubmittersRCV000058190 RCV000182053 RCV001364660 RCV002247459
NM_000238.4(KCNH2):c.3095G>A (p.Arg1032Gln)	SNV Germline	Chr7:150947385	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Long QT syndrome 2 Cardiac arrhythmia Long QT syndrome 2 Short QT syndrome type 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007902	rs_199473020	8 SubmittersRCV000058194 RCV000703148 RCV000987997 RCV001841739 RCV002490646 RCV004019012
NM_000238.4(KCNH2):c.3097C>T (p.Arg1033Trp)	SNV Germline	Chr7:150947383	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Long QT syndrome 1 Condition: not provided Cardiac arrhythmia Cardiovascular phenotype Long QT syndrome 2 Short QT syndrome type 1	Criteria Provided Conflicting Classifications	CA007914	rs_199473021	10 SubmittersRCV000058195 RCV000685270 RCV001256912 RCV001664238 RCV001841740 RCV003298111 RCV002483098
NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp)	SNV Germline	Chr7:150947373	Conflicting classifications of pathogenicity	Congenital long QT syndrome not specified Long QT syndrome Condition: not provided Cardiac arrhythmia Short QT syndrome type 1 Long QT syndrome 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007960	rs_199473022	9 SubmittersRCV000058197 RCV000454975 RCV000795860 RCV001548137 RCV001841742 RCV002477190 RCV004019014
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met)	SNV Germline	Chr7:150947368	Conflicting classifications of pathogenicity	Congenital long QT syndrome Condition: not provided Long QT syndrome 2 Long QT syndrome Cardiac arrhythmia not specified Cardiovascular phenotype KCNH2-related disorder	Criteria Provided Conflicting Classifications	CA007991	rs_199473544	10 SubmittersRCV000058199 RCV000181911 RCV000987996 RCV001088304 RCV001841744 RCV001804794 RCV004019015 RCV004549486
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe)	SNV Germline	Chr7:150947347	Conflicting classifications of pathogenicity	Congenital long QT syndrome Arrhythmogenic right ventricular cardiomyopathy Primary dilated cardiomyopathy Long QT syndrome Cardiac arrhythmia Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA008015	rs_199473025	7 SubmittersRCV000058201 RCV000143906 RCV000143907 RCV000157268 RCV001841746 RCV002321556 RCV004791258
NM_000238.4(KCNH2):c.3203A>G (p.Gln1068Arg)	SNV Germline	Chr7:150947004	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA008110	rs_151031345	6 SubmittersRCV000058209 RCV000200795 RCV000620371 RCV001841748
NM_000238.4(KCNH2):c.322T>C (p.Cys108Arg)	SNV Germline	Chr7:150959722	Likely pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA008126	rs_199472859	2 SubmittersRCV000058211 RCV001040354
NM_000238.4(KCNH2):c.3322C>G (p.Leu1108Val)	SNV Germline	Chr7:150946885	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome 2 Long QT syndrome Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA008187	rs_199473031	6 SubmittersRCV000058217 RCV001164500 RCV001296616 RCV001841751 RCV004019018
NM_000238.4(KCNH2):c.3347C>T (p.Ala1116Val)	SNV Germline	Chr7:150945498	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Cardiac arrhythmia Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA008234	rs_199473032	6 SubmittersRCV000058220 RCV001257224 RCV001841753 RCV002221485 RCV004019019
NM_000238.4(KCNH2):c.340C>T (p.Pro114Ser)	SNV Germline	Chr7:150959704	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Long QT syndrome 2	Criteria Provided Conflicting Classifications	CA008285	rs_199472861	3 SubmittersRCV000058223 RCV003531962 RCV006249582
NM_000238.4(KCNH2):c.371T>G (p.Met124Arg)	SNV Germline	Chr7:150959673	Pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Single Submitter	CA008369	rs_199472862	2 SubmittersRCV000058230 RCV002514290
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu)	SNV Germline	Chr7:150959622	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome not specified Cardiovascular phenotype Long QT syndrome 2 Hypertrophic cardiomyopathy Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA008431	rs_199472864	14 SubmittersRCV000058233 RCV000148539 RCV000181756 RCV000620293 RCV000988005 RCV000853031 RCV001841759
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)	SNV Germline	Chr7:150959602	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome not specified Cardiovascular phenotype Long QT syndrome 2 Conduction disorder of the heart Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA008448	rs_139544114	20 SubmittersRCV000058234 RCV000148528 RCV000223902 RCV000618143 RCV000988004 RCV001256843 RCV001841760
NM_000238.4(KCNH2):c.446G>C (p.Gly149Ala)	SNV Germline	Chr7:150959598	Conflicting classifications of pathogenicity	Congenital long QT syndrome Long QT syndrome Long QT syndrome 2 Short QT syndrome type 1 Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA008457	rs_199472865	6 SubmittersRCV000058235 RCV000706355 RCV000765948 RCV003591665 RCV004017372
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)	SNV Germline	Chr7:150958449	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome 2 not specified Long QT syndrome Cardiovascular phenotype Short QT syndrome type 1 Long QT syndrome 2 Short QT syndrome type 1 Cardiac arrhythmia Prolonged QT interval	Criteria Provided Conflicting Classifications	CA008553	rs_36210422	22 SubmittersRCV000058238 RCV000157257 RCV000181761 RCV000199086 RCV000617719 RCV001196177 RCV005394293 RCV006255140 RCV005620340
NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr)	SNV Germline	Chr7:150958407	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome Long QT syndrome 2 Short QT syndrome type 1 not specified Cardiovascular phenotype KCNH2-related disorder	Criteria Provided Conflicting Classifications	CA008604	rs_150817714	7 SubmittersRCV000058241 RCV000532958 RCV000765946 RCV000780360 RCV002345368 RCV004549487
NM_000238.4(KCNH2):c.82A>G (p.Lys28Glu)	SNV Germline	Chr7:150974936	Pathogenic	Congenital long QT syndrome	No Assertion Criteria Provided	CA008871	rs_199472829	2 SubmittersRCV000058261
NM_000238.4(KCNH2):c.87C>A (p.Phe29Leu)	SNV Germline	Chr7:150974931	Pathogenic	Congenital long QT syndrome Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008941	rs_199472830	3 SubmittersRCV000058267 RCV001068013
NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg)	SNV Germline	Chr7:150958059	Likely pathogenic	Congenital long QT syndrome Long QT syndrome 2 Long QT syndrome	Criteria Provided Single Submitter	CA008981	rs_199472884	3 SubmittersRCV000058272 RCV000157261 RCV000198797
NM_000238.4(KCNH2):c.916G>T (p.Gly306Trp)	SNV Germline	Chr7:150958059	Likely pathogenic	Congenital long QT syndrome Condition: not provided Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008988	rs_199472884	3 SubmittersRCV000058273 RCV000182020 RCV000229643
NM_000238.4(KCNH2):c.92T>C (p.Ile31Thr)	SNV Germline	Chr7:150974926	Likely pathogenic	Congenital long QT syndrome Condition: not provided	Criteria Provided Single Submitter	CA008995	rs_199472833	2 SubmittersRCV000058274 RCV000181922
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys)	SNV Germline	Chr7:150957437	Conflicting classifications of pathogenicity	Condition: not provided not specified Long QT syndrome Cardiovascular phenotype Long QT syndrome 2 Cardiac arrhythmia KCNH2-related disorder	Criteria Provided Conflicting Classifications	CA009053	rs_199473505	11 SubmittersRCV000058281 RCV000157262 RCV000210884 RCV000620416 RCV001162645 RCV001841763 RCV004549488
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr)	SNV Germline	Chr7:150974920	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome Cardiovascular phenotype Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA009070	rs_199473487	7 SubmittersRCV000058282 RCV000780363 RCV003343627 RCV005401318
NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys)	SNV Germline	Chr12:2607117	Pathogenic/Likely pathogenic	Brugada syndrome Long QT syndrome Timothy syndrome Long QT syndrome 8 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA264828	rs_199473391	7 SubmittersRCV000058287 RCV000475353 RCV001795047 RCV004786338 RCV005430959
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)	SNV Germline	Chr12:2688702	Conflicting classifications of pathogenicity	Brugada syndrome Brugada syndrome (shorter-than-normal QT interval) not specified Cardiovascular phenotype Condition: not provided Brugada syndrome 3 Long QT syndrome Timothy syndrome CACNA1C-related disorder	Criteria Provided Conflicting Classifications	CA211379	rs_199473660	12 SubmittersRCV000058289 RCV000148443 RCV000212341 RCV000620928 RCV000724590 RCV000678943 RCV001086309 RCV000988771 RCV004734615
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn)	SNV Germline	Chr12:2691170	Conflicting classifications of pathogenicity	Brugada syndrome Condition: not provided Timothy syndrome Long QT syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA264837	rs_199473392	7 SubmittersRCV000058290 RCV000170829 RCV000678917 RCV001089169 RCV002362692
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln)	SNV Germline	Chr17:70175239	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided not specified Andersen Tawil syndrome Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Multiple Submitters No Conflicts	CA302017	rs_199473368	6 SubmittersRCV000058295 RCV000170972 RCV000678807 RCV001218636 RCV004017374
NM_000891.3(KCNJ2):c.211G>A (p.Asp71Asn)	SNV Germline	Chr17:70175250	Likely pathogenic	Congenital long QT syndrome Condition: not provided	Criteria Provided Single Submitter	CA329642	rs_199473369	2 SubmittersRCV000058297 RCV000413768
NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met)	SNV Germline	Chr17:70175263	Pathogenic/Likely pathogenic	Congenital long QT syndrome Condition: not provided Andersen Tawil syndrome Short QT syndrome type 3 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA302067	rs_104894585	4 SubmittersRCV000058302 RCV000170993 RCV000644783 RCV004629147
NM_000891.3(KCNJ2):c.232G>T (p.Asp78Tyr)	SNV Germline	Chr17:70175271	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Single Submitter	CA329651	rs_199473372	2 SubmittersRCV000058303 RCV001246254
NM_000891.3(KCNJ2):c.233A>G (p.Asp78Gly)	SNV Germline	Chr17:70175272	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome	No Assertion Criteria Provided	CA329654	rs_199473371	2 SubmittersRCV000058304 RCV000157272
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)	SNV Germline	Chr17:70175284	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Cardiovascular phenotype Andersen Tawil syndrome Short QT syndrome type 3 Condition: not provided Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA329657	rs_199473653	7 SubmittersRCV000058306 RCV000466653 RCV000619060 RCV000791354 RCV001575542 RCV004700362
NM_000891.3(KCNJ2):c.407C>T (p.Ser136Phe)	SNV Germline	Chr17:70175446	Pathogenic	Congenital long QT syndrome Condition: not provided	Criteria Provided Single Submitter	CA329663	rs_199473376	2 SubmittersRCV000058310 RCV004819992
NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser)	SNV Germline	Chr17:70175469	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Multiple Submitters No Conflicts	CA329666	rs_199473378	3 SubmittersRCV000058311 RCV001382882 RCV002470749
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)	SNV Germline	Chr17:70175470	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Short QT syndrome type 3 Condition: not provided Andersen Tawil syndrome Short QT syndrome type 3 Atrial fibrillation, familial, 9 Andersen Tawil syndrome Short QT syndrome type 1 Atrial fibrillation, familial, 1	Criteria Provided Multiple Submitters No Conflicts	CA329669	rs_199473377	5 SubmittersRCV000058312 RCV000644780 RCV001775567 RCV001535632 RCV001824594
NM_000891.3(KCNJ2):c.431G>C (p.Gly144Ala)	SNV Germline	Chr17:70175470	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Short QT syndrome type 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA329672	rs_199473377	3 SubmittersRCV000058313 RCV001057585 RCV003480051
NM_000891.3(KCNJ2):c.436G>A (p.Gly146Ser)	SNV Germline	Chr17:70175475	Pathogenic/Likely pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Short QT syndrome type 3 Andersen Tawil syndrome	Criteria Provided Multiple Submitters No Conflicts	CA329675	rs_199473654	3 SubmittersRCV000058314 RCV003764731 RCV005867843
NM_000891.3(KCNJ2):c.566G>T (p.Arg189Ile)	SNV Germline	Chr17:70175605	Likely pathogenic	Congenital long QT syndrome Condition: not provided	Criteria Provided Single Submitter	CA302038	rs_199473381	2 SubmittersRCV000058320 RCV000170981
NM_000891.3(KCNJ2):c.574A>G (p.Thr192Ala)	SNV Germline	Chr17:70175613	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome	Criteria Provided Single Submitter	CA329687	rs_199473382	2 SubmittersRCV000058321 RCV001258374
NM_000891.3(KCNJ2):c.575C>T (p.Thr192Ile)	SNV Germline	Chr17:70175614	Conflicting classifications of pathogenicity	Congenital long QT syndrome Andersen Tawil syndrome Short QT syndrome type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA329690	rs_199473655	3 SubmittersRCV000058322 RCV002513763 RCV005639080
NM_000891.3(KCNJ2):c.644G>A (p.Gly215Asp)	SNV Germline	Chr17:70175683	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Short QT syndrome type 3	Criteria Provided Single Submitter	CA329693	rs_199473383	2 SubmittersRCV000058323 RCV001388390
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)	SNV Germline	Chr17:70175692	Pathogenic	Congenital long QT syndrome Andersen Tawil syndrome Condition: not provided Andersen Tawil syndrome Short QT syndrome type 3 Cardiovascular phenotype Andersen Tawil syndrome Short QT syndrome type 3 Atrial fibrillation, familial, 9	Criteria Provided Multiple Submitters No Conflicts	CA329699	rs_199473384	10 SubmittersRCV000058327 RCV000157273 RCV000255682 RCV000791452 RCV002362693 RCV002483105
NM_000891.3(KCNJ2):c.779G>C (p.Arg260Pro)	SNV Germline	Chr17:70175818	Pathogenic	Congenital long QT syndrome Condition: not provided	Criteria Provided Single Submitter	CA302046	rs_199473385	2 SubmittersRCV000058329 RCV000170984

NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)

SNV
Germline

Chr3:32159096

Conflicting classifications of pathogenicity

Brugada syndrome 2
Condition: not provided
Death in infancy
Cardiovascular phenotype
not specified
Brugada syndrome
Brugada syndrome (shorter-than-normal QT interval)
Long QT syndrome
GPD1L-related disorder

Criteria Provided
Conflicting Classifications

CA334813

rs_72552291

14 SubmittersRCV000000822 RCV000170923 RCV000234995 RCV000244771 RCV000614172 RCV000638732 RCV001192631 RCV003318331 RCV004757091

NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)

SNV
Germline

Chr3:32140231

Conflicting classifications of pathogenicity

Brugada syndrome 2
SUDDEN INFANT DEATH SYNDROME
Long QT syndrome
Primary familial hypertrophic cardiomyopathy
Condition: not provided
not specified
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Brugada syndrome
GPD1L-related disorder

Criteria Provided
Conflicting Classifications

CA213881

rs_72552293

18 SubmittersRCV000000824 RCV000029945 RCV000157243 RCV000203752 RCV000170920 RCV000620285 RCV000852958 RCV001081825 RCV003952333

NM_000218.3(KCNQ1):c.532G>C (p.Ala178Pro)

SNV
Germline

Chr11:2570682

Pathogenic

Long QT syndrome 1
Congenital long QT syndrome

No Assertion Criteria Provided

CA007364

rs_120074177

2 SubmittersRCV000003260 RCV000057693

NM_000218.3(KCNQ1):c.916G>A (p.Gly306Arg)

SNV
Germline

Chr11:2572981

Pathogenic

Long QT syndrome 1
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA008634

rs_120074181

6 SubmittersRCV000003262 RCV000057797 RCV000182132 RCV005403712

NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile)

SNV
Germline

Chr11:2583448

Pathogenic/Likely pathogenic

Long QT syndrome 1
Congenital long QT syndrome
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008759

rs_120074182

8 SubmittersRCV000003263 RCV000057808 RCV000182136 RCV001841222 RCV002444417 RCV001386969

NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)

SNV
Germline

Chr11:2570719

Pathogenic/Likely pathogenic

Long QT syndrome 1
Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA007542

rs_120074178

16 SubmittersRCV000003264 RCV000046088 RCV000057706 RCV000182086 RCV000588393 RCV001841223

NM_000218.3(KCNQ1):c.760G>A (p.Val254Met)

SNV
Germline

Chr11:2572089

Pathogenic

Long QT syndrome 1
Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Atrial fibrillation, familial, 3
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome
Short QT syndrome type 2

Reviewed By Expert Panel

CA008122

rs_120074179

11 SubmittersRCV000003265 RCV000057749 RCV000182109 RCV000190212 RCV000619506 RCV005862693

NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe)

SNV
Germline

Chr11:2572882

Likely pathogenic

Long QT syndrome 1
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Reviewed By Expert Panel

CA008331

rs_120074180

11 SubmittersRCV000003266 RCV000057769 RCV000182120 RCV000620696 RCV001192509

NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu)

SNV
Germline

Chr11:2583535

Pathogenic

Long QT syndrome 1/2, digenic
Long QT syndrome 1
Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA004880

rs_12720459

10 SubmittersRCV000003268 RCV000003267 RCV000057526 RCV000045932 RCV000182154 RCV000621485 RCV003591617

NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val)

SNV
Germline

Chr11:2583535

Pathogenic

Long QT syndrome 1
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA004897

rs_12720459

13 SubmittersRCV000003269 RCV000057528 RCV000171124 RCV000619686 RCV006547484

NM_000218.3(KCNQ1):c.1034G>A (p.Gly345Glu)

SNV
Germline

Chr11:2585213

Pathogenic/Likely pathogenic

Long QT syndrome 1
Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA005061

rs_120074183

5 SubmittersRCV000003270 RCV000057536 RCV002512696 RCV005241333 RCV005402794

NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser)

SNV
Germline

Chr11:2583453

Pathogenic

Long QT syndrome 1
Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA008773

rs_120074184

12 SubmittersRCV000003271 RCV000057810 RCV000182137 RCV000852434 RCV002371756

NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys)

SNV
Germline

Chr11:2776032

Pathogenic

Long QT syndrome 1
Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA006141

rs_120074185

13 SubmittersRCV000003274 RCV000057613 RCV000046011 RCV000182211 RCV000618290 RCV001841224

NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser)

SNV
Germline

Chr11:2572979

Pathogenic/Likely pathogenic

Jervell and Lange-Nielsen syndrome 1
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008623

rs_120074186

6 SubmittersRCV000003275 RCV000057796 RCV000182130 RCV000622153 RCV001385529

NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)

SNV
Germline

Chr11:2572963

Conflicting classifications of pathogenicity

Long QT syndrome 1
Condition: not provided
not specified
Cardiovascular phenotype
Long QT syndrome
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA008554

rs_120074187

15 SubmittersRCV000003276 RCV000057789 RCV000182128 RCV000621158 RCV000541920 RCV001102803 RCV001104722 RCV001841225

NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)

SNV
Germline

Chr11:2768881

Likely pathogenic

Long QT syndrome 1, recessive
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Congenital long QT syndrome
Long QT syndrome 1
KCNQ1-related disorder
not specified
Cardiac arrhythmia
Jervell and Lange-Nielsen syndrome 1
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Monogenic hearing loss

Reviewed By Expert Panel

CA005894

rs_17215500

33 SubmittersRCV000003279 RCV000148548 RCV000182196 RCV000251958 RCV000614524 RCV000515748 RCV000779058 RCV000999897 RCV001841226 RCV001847566 RCV005644471 RCV005862694

NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr)

SNV
Germline

Chr11:2768902

Pathogenic/Likely pathogenic

Long QT syndrome 1, recessive
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005949

rs_120074188

5 SubmittersRCV000003280 RCV000057600 RCV000182202 RCV000622131 RCV001851605

NM_000218.3(KCNQ1):c.922-1G>C

SNV
Germline

Chr11:2583434

Pathogenic

Long QT syndrome 1
Long QT syndrome

Criteria Provided
Single Submitter

CA008676

rs_387906290

2 SubmittersRCV000003282 RCV002512697

NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)

SNV
Germline

Chr11:2583545

Pathogenic

Long QT syndrome 1
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 2
Beckwith-Wiedemann syndrome
Congenital long QT syndrome

Reviewed By Expert Panel

CA005005

rs_1800171

17 SubmittersRCV000003283 RCV000045941 RCV000182159 RCV000621184 RCV000498423 RCV002247243 RCV004017223

NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)

SNV
Germline

Chr11:2778003

Pathogenic

Jervell and Lange-Nielsen syndrome 1
Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 1
KCNQ1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA006328

rs_120074189

9 SubmittersRCV000003286 RCV000046026 RCV000057632 RCV000182221 RCV000619349 RCV003319300 RCV004732528

NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)

SNV
Germline

Chr11:2778009

Pathogenic

Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Cardiac arrhythmia

Reviewed By Expert Panel

CA006347

rs_120074190

8 SubmittersRCV000003288 RCV000003289 RCV000057633 RCV000182223 RCV000622145 RCV000699476 RCV001258106 RCV001841227

NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu)

SNV
Germline

Chr11:2445448

Likely pathogenic

Long QT syndrome 1
Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA006854

rs_120074191

3 SubmittersRCV000003290 RCV000057662 RCV001349040

NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)

SNV
Germline

Chr11:2777990

Conflicting classifications of pathogenicity

Acquired susceptibility to long QT syndrome 1
Long QT syndrome 1
Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Beckwith-Wiedemann syndrome
KCNQ1-related disorder
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia
Long QT syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Conflicting Classifications

CA006297

rs_17221854

12 SubmittersRCV000003292 RCV000003291 RCV000057628 RCV000182219 RCV000762837 RCV001824559 RCV001851606 RCV004018545 RCV003591618 RCV005364866

NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)

SNV
Germline

Chr11:2572870

Pathogenic

Long QT syndrome 1
Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Short QT syndrome type 2
not specified
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA008278

rs_120074193

14 SubmittersRCV000003294 RCV000057765 RCV000182118 RCV000477568 RCV000762834 RCV001002562 RCV002408447 RCV005402795

NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp)

SNV
Germline

Chr11:2572871

Pathogenic/Likely pathogenic

Long QT syndrome 1
Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
KCNQ1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA008292

rs_120074194

10 SubmittersRCV000003295 RCV000057766 RCV000046133 RCV000182119 RCV002415391 RCV004540987

NM_000218.3(KCNQ1):c.728G>C (p.Arg243Pro)

SNV
Germline

Chr11:2572057

Pathogenic

Long QT syndrome 1/2, digenic
Congenital long QT syndrome

No Assertion Criteria Provided

CA008027

rs_120074196

2 SubmittersRCV000003300 RCV000057743

NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu)

SNV
Germline

Chr7:92040690

Conflicting classifications of pathogenicity

Long QT syndrome 11
Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA253635

rs_121908566

5 SubmittersRCV000006241 RCV000631713 RCV000756981 RCV002336077

NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)

SNV
Germline

Chr21:34370639

Conflicting classifications of pathogenicity; risk factor

Long QT syndrome 6
Congenital long QT syndrome
Condition: not provided
KCNE2-related disorder
Cardiac arrhythmia
Cardiovascular phenotype
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA253741

rs_74315447

11 SubmittersRCV000006425 RCV000058360 RCV000212497 RCV000407848 RCV001841228 RCV002399310 RCV004772828 RCV005237356

NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)

SNV
Germline

Chr21:34370648

Conflicting classifications of pathogenicity

Long QT syndrome 6
Condition: not provided
Cardiovascular phenotype
Atrial fibrillation, familial, 4
Cardiac arrhythmia
KCNE2-related disorder

Criteria Provided
Conflicting Classifications

CA218805

rs_74315448

18 SubmittersRCV000006426 RCV000058362 RCV000241603 RCV001139401 RCV001841229 RCV004532298

NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys)

SNV
Germline

Chr21:34370557

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 4
Atrial fibrillation
Long QT syndrome
Primary familial hypertrophic cardiomyopathy
Atrial fibrillation, familial, 4
Long QT syndrome 6
Condition: not provided
Long QT syndrome 6
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA117924

rs_74315449

8 SubmittersRCV000006427 RCV000058377 RCV000157256 RCV000490451 RCV000756281 RCV001080271 RCV004018576

NM_172201.2(KCNE2):c.178T>C (p.Phe60Leu)

SNV
Germline

Chr21:34370656

Pathogenic

Long QT syndrome 3/6, digenic
Congenital long QT syndrome

No Assertion Criteria Provided

CA117926

rs_16991654

2 SubmittersRCV000006428 RCV000058363

NM_033337.3(CAV3):c.314C>T (p.Pro105Leu)

SNV
Germline

Chr3:8745725

Pathogenic

Rippling muscle disease 2
Condition: not provided
Long QT syndrome

Criteria Provided
Single Submitter

CA119419

rs_116840805

3 SubmittersRCV000008765 RCV000024379 RCV005089211

NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)

SNV
Germline

Chr3:8745627

Conflicting classifications of pathogenicity

Rippling muscle disease 2
Condition: not provided
not specified
Limb-girdle muscular dystrophy
Cardiovascular phenotype
Hypertrophic cardiomyopathy 1
Elevated circulating creatine kinase concentration
Distal myopathy, Tateyama type
Long QT syndrome 9
Rippling muscle disease 2
Long QT syndrome 1
Cardiomyopathy
Long QT syndrome
Caveolinopathy
CAV3-related disorder

Criteria Provided
Conflicting Classifications

CA175393

rs_116840776

20 SubmittersRCV000008769 RCV000024381 RCV000150236 RCV000171752 RCV000249612 RCV000477819 RCV000987087 RCV000769171 RCV001084478 RCV001144018 RCV003952349

NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)

SNV
Germline

Chr3:8745547

Pathogenic/Likely pathogenic

Rippling muscle disease 2
Elevated circulating creatine kinase concentration
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Myopathy with tubular aggregates

Criteria Provided
Multiple Submitters
No Conflicts

CA119428

rs_116840789

10 SubmittersRCV000008772 RCV000008774 RCV000024382 RCV001384920 RCV002381245 RCV004585993

NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)

SNV
Germline

Chr3:8745688

Conflicting classifications of pathogenicity

Rippling muscle disease 2, autosomal recessive
Condition: not provided
Long QT syndrome
Rippling muscle disease 2
Cardiovascular phenotype
Hypertrophic cardiomyopathy 1
Rippling muscle disease 2
Elevated circulating creatine kinase concentration
Long QT syndrome 9
Distal myopathy, Tateyama type
Caveolinopathy
Hypertrophic cardiomyopathy 1

Criteria Provided
Conflicting Classifications

CA119440

rs_28936686

15 SubmittersRCV000008780 RCV000024388 RCV000234612 RCV000826098 RCV000622234 RCV005031426 RCV005357099 RCV005409597

NM_033337.3(CAV3):c.99C>G (p.Asn33Lys)

SNV
Germline

Chr3:8733975

Pathogenic

Distal myopathy, Tateyama type
Long QT syndrome

Criteria Provided
Single Submitter

CA119446

rs_1008642

3 SubmittersRCV000008786 RCV001212042

NM_033337.3(CAV3):c.423C>G (p.Ser141Arg)

SNV
Germline

Chr3:8745834

Pathogenic

Long QT syndrome 9
Condition: not provided

No Assertion Criteria Provided

CA215221

rs_104893713

2 SubmittersRCV000008788 RCV000024432

NM_033337.3(CAV3):c.233C>T (p.Thr78Met)

SNV
Germline

Chr3:8745644

Conflicting classifications of pathogenicity

Long QT syndrome 2/9, digenic
Long QT syndrome 9
Condition: not provided
not specified
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 1
Cardiomyopathy
Caveolinopathy
CAV3-related disorder
Hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA119455

rs_72546668

25 SubmittersRCV000008791 RCV000008790 RCV000024406 RCV000039801 RCV000168328 RCV000242756 RCV000987088 RCV000769173 RCV001144019 RCV003924817 RCV004764897

NM_033337.3(CAV3):c.253G>A (p.Ala85Thr)

SNV
Germline

Chr3:8745664

Pathogenic

Long QT syndrome 9
Condition: not provided

No Assertion Criteria Provided

CA215218

rs_104893715

2 SubmittersRCV000008792 RCV000024430

NM_033337.3(CAV3):c.40G>C (p.Val14Leu)

SNV
Germline

Chr3:8733916

Pathogenic

Long QT syndrome 9
Condition: not provided

No Assertion Criteria Provided

CA215224

rs_121909281

2 SubmittersRCV000008793 RCV000024433

NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val)

SNV
Germline

Chr20:33410203

Conflicting classifications of pathogenicity

Long QT syndrome 12
Condition: not provided
Long QT syndrome
Atrial fibrillation
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA254410

rs_121434500

6 SubmittersRCV000008997 RCV000414434 RCV000852541 RCV002326671 RCV002512925

NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val)

SNV
Germline

Chr17:70175251

Pathogenic

Andersen Tawil syndrome
Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Single Submitter

CA254592

rs_104894575

3 SubmittersRCV000009473 RCV000058298 RCV001851763

NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)

SNV
Germline

Chr17:70175691

Pathogenic/Likely pathogenic

Andersen Tawil syndrome
Congenital long QT syndrome
Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome
Cardiovascular phenotype
Short QT syndrome type 3
Atrial fibrillation, familial, 9
Andersen Tawil syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA302041

rs_104894578

16 SubmittersRCV000009474 RCV000058326 RCV000170982 RCV000684775 RCV004018605 RCV005222677

NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val)

SNV
Germline

Chr17:70175938

Pathogenic

Andersen Tawil syndrome
Congenital long QT syndrome
Condition: not provided
Andersen Tawil syndrome
Short QT syndrome type 3
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA254594

rs_104894579

5 SubmittersRCV000009475 RCV000058332 RCV000170987 RCV002512943 RCV004629139

NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)

SNV
Germline

Chr17:70175238

Pathogenic

Andersen Tawil syndrome
Congenital long QT syndrome
Condition: not provided
Short QT syndrome type 3
Atrial fibrillation, familial, 9
Andersen Tawil syndrome
not specified
Short QT syndrome type 3
Andersen Tawil syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA302015

rs_104894580

12 SubmittersRCV000009478 RCV000058294 RCV000170971 RCV000763415 RCV001000954 RCV000814909 RCV002415408

NM_000891.3(KCNJ2):c.557C>T (p.Pro186Leu)

SNV
Germline

Chr17:70175596

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome

No Assertion Criteria Provided

CA254596

rs_104894581

2 SubmittersRCV000058319 RCV000009479

NM_000891.3(KCNJ2):c.904G>A (p.Val302Met)

SNV
Germline

Chr17:70175943

Pathogenic

Andersen Tawil syndrome
Congenital long QT syndrome

No Assertion Criteria Provided

CA254598

rs_104894582

2 SubmittersRCV000009480 RCV000058333

NM_000891.3(KCNJ2):c.646A>C (p.Asn216His)

SNV
Germline

Chr17:70175685

Pathogenic

Andersen Tawil syndrome
Congenital long QT syndrome

No Assertion Criteria Provided

CA254600

rs_104894583

2 SubmittersRCV000009481 RCV000058324

NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg)

SNV
Germline

Chr17:70175263

Pathogenic

Andersen Tawil syndrome
Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Single Submitter

CA254602

rs_104894585

3 SubmittersRCV000009483 RCV000058301 RCV001851764

NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)

SNV
Germline

Chr3:38551441

Pathogenic

Long QT syndrome 3
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia
SCN5A-related disorder
Brugada syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA018760

rs_28937316

18 SubmittersRCV000009963 RCV000058726 RCV000183090 RCV000246905 RCV002307360 RCV003591624 RCV004545721 RCV006434910

NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser)

SNV
Germline

Chr3:38560418

Pathogenic/Likely pathogenic

Long QT syndrome 3
Congenital long QT syndrome
Cardiovascular phenotype
Condition: not provided
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA017679

rs_28937317

8 SubmittersRCV000009964 RCV000058618 RCV002354154 RCV003234898 RCV005417427 RCV006547487

NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)

SNV
Germline

Chr3:38551505

Pathogenic

Sick sinus syndrome 1
Condition: not provided
Familial isolated arrhythmogenic right ventricular dysplasia
Long QT syndrome 3
Cardiovascular phenotype
8 conditions
Cardiac arrhythmia
SCN5A-related disorder
Brugada syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA018662

rs_137854613

13 SubmittersRCV000009968 RCV000183087 RCV000465149 RCV000477950 RCV000622049 RCV002496317 RCV001841231 RCV004528097 RCV003996083

NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys)

SNV
Germline

Chr3:38550988

Pathogenic

Long QT syndrome 3
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA019196

rs_137854614

5 SubmittersRCV000009969 RCV000058778 RCV001561910 RCV002345237

NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln)

SNV
Germline

Chr3:38551504

Pathogenic

Long QT syndrome 3
Long QT syndrome 3/6, digenic
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA018670

rs_137854600

5 SubmittersRCV000009970 RCV000009971 RCV000058716 RCV001588806 RCV004984637

NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)

SNV
Germline

Chr3:38551022

Pathogenic/Likely pathogenic

Long QT syndrome 3
Brugada syndrome 1
Sinoatrial node disorder
Congenital long QT syndrome
Condition: not provided
Brugada syndrome
Cardiovascular phenotype
Long QT syndrome 1
Congenital long QT syndrome
Brugada syndrome
Cardiac arrhythmia
SCN5A-related disorder
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA019148

rs_137854601

26 SubmittersRCV000009972 RCV000009973 RCV000009974 RCV000058773 RCV000183117 RCV000208193 RCV000245905 RCV000588022 RCV000824758 RCV003591625 RCV004545722 RCV004795388

NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr)

SNV
Germline

Chr3:38550602

Conflicting classifications of pathogenicity

Brugada syndrome 1
Brugada syndrome
Condition: not provided
Cardiac arrhythmia
Long QT syndrome
Brugada syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA019460

rs_137854603

9 SubmittersRCV000009978 RCV000058806 RCV000420298 RCV001841233 RCV002251424 RCV004017231 RCV006268075

NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)

SNV
Germline

Chr3:38551243

Pathogenic/Likely pathogenic

Ventricular fibrillation, paroxysmal familial, type 1
Ventricular fibrillation
Condition: not provided
Brugada syndrome 1
Cardiovascular phenotype
Cardiac arrhythmia
8 conditions
Brugada syndrome
Brugada syndrome 1
Long QT syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA018910

rs_137854604

16 SubmittersRCV000009981 RCV000058743 RCV000183102 RCV000197520 RCV000246596 RCV001841234 RCV002504774 RCV004017232 RCV004554591

NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)

SNV
Germline

Chr3:38581170

Conflicting classifications of pathogenicity

Long QT syndrome 3
Congenital long QT syndrome
Condition: not provided
8 conditions
Cardiac arrhythmia
SCN5A-related disorder
Atrial fibrillation, familial, 10
Brugada syndrome 1
Dilated cardiomyopathy 1E
Long QT syndrome 3

Criteria Provided
Conflicting Classifications

CA016718

rs_137854609

9 SubmittersRCV000009986 RCV000058542 RCV000183020 RCV002504775 RCV003591626 RCV004532320 RCV005051733

NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val)

SNV
Germline

Chr3:38597787

Pathogenic/Likely pathogenic

Brugada syndrome 1
Brugada syndrome
Condition: not provided
Congenital long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA015951

rs_137854611

8 SubmittersRCV000009989 RCV000058488 RCV003654175 RCV003996084 RCV003591627

NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)

SNV
Germline

Chr3:38579416

Conflicting classifications of pathogenicity

SUDDEN INFANT DEATH SYNDROME
Long QT syndrome 3, acquired, susceptibility to
not specified
Condition: not provided
Progressive familial heart block, type 1A
Ventricular fibrillation, paroxysmal familial, type 1
Sick sinus syndrome 1
Brugada syndrome
Dilated cardiomyopathy 1E
Long QT syndrome 3
Cardiovascular phenotype
Brugada syndrome 1
Cardiac arrhythmia
Primary dilated cardiomyopathy
Cardiomyopathy
8 conditions

Criteria Provided
Conflicting Classifications

CA017028

rs_7626962

23 SubmittersRCV000009993 RCV000009992 RCV000041615 RCV000058563 RCV000304064 RCV000368908 RCV000396768 RCV000204216 RCV000274325 RCV000755696 RCV000621429 RCV001094834 RCV001841239 RCV003125829 RCV003149567 RCV002504776

NM_000335.5(SCN5A):c.3890C>T (p.Pro1297Leu)

SNV
Germline

Chr3:38562485

Conflicting classifications of pathogenicity

Sick sinus syndrome 1
Sick sinus syndrome
Cardiac arrhythmia
Long QT syndrome 3
Brugada syndrome 1
Dilated cardiomyopathy 1E

Criteria Provided
Conflicting Classifications

CA017599

rs_28937319

5 SubmittersRCV000009994 RCV000058612 RCV001841240 RCV004819205

NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg)

SNV
Germline

Chr3:38560170

Pathogenic

Sick sinus syndrome 1
Brugada syndrome 1
Conduction system disorder
Brugada syndrome
Condition: not provided
8 conditions
Cardiovascular phenotype
Congenital long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA017985

rs_137854612

11 SubmittersRCV000009995 RCV000009996 RCV000009997 RCV000058649 RCV000183190 RCV002496318 RCV002326672 RCV003996085 RCV005402797

NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)

SNV
Germline

Chr3:38613787

Conflicting classifications of pathogenicity

Sick sinus syndrome 1
Brugada syndrome
not specified
AV junctional rhythm
Cardiovascular phenotype
Dilated cardiomyopathy 1E
Primary familial dilated cardiomyopathy
Long QT syndrome 3
Condition: not provided
Cardiac arrhythmia
SCN5A-related disorder
Brugada syndrome 1
Long QT syndrome 3
Brugada syndrome 1

Criteria Provided
Conflicting Classifications

CA019690

rs_45620037

17 SubmittersRCV000009998 RCV000058832 RCV000151804 RCV000148857 RCV000251727 RCV000258831 RCV000622951 RCV000678935 RCV000586618 RCV001841241 RCV004528099 RCV005411283 RCV006434911

NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser)

SNV
Germline

Chr3:38566465

Conflicting classifications of pathogenicity

Brugada syndrome 1
Brugada syndrome
Long QT syndrome 3
Progressive familial heart block, type 1A
Ventricular fibrillation, paroxysmal familial, type 1
Sick sinus syndrome 1
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA017513

rs_137854616

11 SubmittersRCV000010001 RCV000058602 RCV000755698 RCV001146725 RCV001146726 RCV001146727 RCV001753410 RCV003996086 RCV004018613

NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)

SNV
Germline

Chr3:38581002

Conflicting classifications of pathogenicity

Brugada syndrome 1
Atrial fibrillation, familial, 10
Congenital long QT syndrome
Long QT syndrome 3
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
not specified
Dilated cardiomyopathy 1E

Criteria Provided
Conflicting Classifications

CA016871

rs_137854617

15 SubmittersRCV000010002 RCV000022945 RCV000058552 RCV000755695 RCV001528558 RCV001841242 RCV002321478 RCV004526592 RCV005246592

NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn)

SNV
Germline

Chr3:38566426

Pathogenic

Dilated cardiomyopathy 1E
Brugada syndrome
Atrial fibrillation, familial, 10
ATRIAL STANDSTILL 1, DIGENIC
Condition: not provided
Long QT syndrome 3
Cardiovascular phenotype
Cardiac arrhythmia
SCN5A-related disorder
Brugada syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA017530

rs_137854618

14 SubmittersRCV000010003 RCV000058604 RCV000022946 RCV000114992 RCV000183045 RCV000656563 RCV000617238 RCV002222347 RCV004532321 RCV006434912

NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)

SNV
Germline

Chr3:38550917

Conflicting classifications of pathogenicity

Long QT syndrome 2/3, digenic
Congenital long QT syndrome
Long QT syndrome
Brugada syndrome 1
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
Atrial fibrillation

Criteria Provided
Conflicting Classifications

CA019238

rs_137854619

12 SubmittersRCV000010005 RCV000058782 RCV000171695 RCV000987198 RCV001507624 RCV001841243 RCV002345238 RCV004772829

NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His)

SNV
Germline

Chr3:38554309

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1E
Primary dilated cardiomyopathy
Long QT syndrome 3
Brugada syndrome 1
Condition: not provided
8 conditions
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA018558

rs_137854607

7 SubmittersRCV000010009 RCV000058706 RCV001258074 RCV003156212 RCV005031434 RCV006547488

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_000219.6(KCNE1):c.20C>T (p.Thr7Ile)

SNV
Germline

Chr21:34449615

Pathogenic

Jervell and Lange-Nielsen syndrome 2
Congenital long QT syndrome
Long QT syndrome 5

No Assertion Criteria Provided

CA256863

rs_28933384

3 SubmittersRCV000014418 RCV000119076 RCV004777562

NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)

SNV
Germline

Chr21:34449409

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 2
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 5
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Jervell and Lange-Nielsen syndrome
not specified
Arrhythmogenic right ventricular cardiomyopathy

Criteria Provided
Conflicting Classifications

CA256867

rs_74315445

26 SubmittersRCV000014419 RCV000148512 RCV000014420 RCV000119080 RCV000222568 RCV000243273 RCV000471399 RCV000606753 RCV000678806 RCV005054138

NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu)

SNV
Germline

Chr21:34449414

Conflicting classifications of pathogenicity

Long QT syndrome 5
Congenital long QT syndrome
Long QT syndrome
not specified
Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA256871

rs_74315446

8 SubmittersRCV000014421 RCV000119079 RCV000471661 RCV000603252 RCV002482866 RCV003318541 RCV004017244

NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)

SNV
Germline

Chr21:34449382

Conflicting classifications of pathogenicity; other; risk factor

Long QT syndrome 2/5, digenic
Long QT syndrome 5, acquired, susceptibility to
not specified
Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5
Cardiomyopathy
Congenital long QT syndrome
Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2

Criteria Provided
Conflicting Classifications

CA123130

rs_1805128

22 SubmittersRCV000014423 RCV000014422 RCV000035353 RCV000057858 RCV000247942 RCV000157255 RCV000399257 RCV000709727 RCV000852954 RCV001195103 RCV003224097

NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)

SNV
Germline

Chr7:150951711

Pathogenic/Likely pathogenic

Long QT syndrome 2
Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Obesity
Prolonged QT interval
Cardiovascular phenotype
Cardiac arrhythmia
Short QT syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA005035

rs_121912504

9 SubmittersRCV000015501 RCV000057941 RCV000181806 RCV000229360 RCV000626630 RCV000620827 RCV003492296 RCV004562210

NM_000238.4(KCNH2):c.1408A>G (p.Asn470Asp)

SNV
Germline

Chr7:150952574

Pathogenic

Long QT syndrome 2
Congenital long QT syndrome

No Assertion Criteria Provided

CA004572

rs_121912505

2 SubmittersRCV000015502 RCV000057902

NM_000238.4(KCNH2):c.1778T>G (p.Ile593Arg)

SNV
Germline

Chr7:150951615

Pathogenic

Long QT syndrome 2
Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005460

rs_28928904

4 SubmittersRCV000015504 RCV000057986 RCV001545123 RCV001851874

NM_000238.4(KCNH2):c.2464G>A (p.Val822Met)

SNV
Germline

Chr7:150948984

Pathogenic

Long QT syndrome 2
Congenital long QT syndrome
Cardiovascular phenotype
Long QT syndrome 1
Long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA006796

rs_121912506

7 SubmittersRCV000015505 RCV000058125 RCV000254122 RCV000509399 RCV000806677 RCV001544763

NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser)

SNV
Germline

Chr7:150951511

Pathogenic

Long QT syndrome 2
Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
KCNH2-related disorder
Short QT syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA005807

rs_121912507

12 SubmittersRCV000015508 RCV000058029 RCV000223848 RCV000822422 RCV002408467 RCV004549371 RCV004558262

NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys)

SNV
Germline

Chr7:150951649

Pathogenic/Likely pathogenic

Long QT syndrome 2
Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA005345

rs_121912508

9 SubmittersRCV000015509 RCV000057970 RCV000181815 RCV000537059 RCV002399326 RCV006547495

NM_000238.4(KCNH2):c.1714G>C (p.Gly572Arg)

SNV
Germline

Chr7:150951679

Pathogenic

Long QT syndrome 2
Congenital long QT syndrome

No Assertion Criteria Provided

CA005249

rs_9333649

2 SubmittersRCV000015510 RCV000057960

NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr)

SNV
Germline

Chr7:150952514

Pathogenic/Likely pathogenic

Long QT syndrome, bradycardia-induced
Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Long QT syndrome 2
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA004650

rs_28928905

8 SubmittersRCV000015511 RCV000057910 RCV000182022 RCV000703745 RCV000709729 RCV002390110 RCV005402798

NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter)

SNV
Germline

Chr7:150947477

Pathogenic

Long QT syndrome 2
Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007783

rs_121912509

3 SubmittersRCV000015512 RCV000181905 RCV001207958

NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu)

SNV
Germline

Chr7:150948995

Pathogenic

Long QT syndrome 2
Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA006763

rs_121912510

9 SubmittersRCV000015513 RCV000058123 RCV000631649 RCV002426506 RCV004696637 RCV003591634

NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp)

SNV
Germline

Chr7:150950216

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Brugada syndrome
Long QT syndrome 2
Cardiac arrhythmia
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
KCNH2-related disorder
Reclassified - variant of unknown significance

Criteria Provided
Conflicting Classifications

CA006462

rs_12720441

12 SubmittersRCV000058108 RCV000208497 RCV001262685 RCV001841245 RCV001851875 RCV002223758 RCV003162252 RCV004549372 RCV004720231

NM_000238.4(KCNH2):c.193A>C (p.Thr65Pro)

SNV
Germline

Chr7:150974825

Pathogenic

Long QT syndrome 2
Congenital long QT syndrome

No Assertion Criteria Provided

CA006061

rs_121912511

2 SubmittersRCV000015515 RCV000058063

NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln)

SNV
Germline

Chr7:150950311

Pathogenic/Likely pathogenic

Long QT syndrome 2
Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA006389

rs_121912512

8 SubmittersRCV000015516 RCV000058100 RCV000148536 RCV001659699 RCV005348058 RCV005402799

NM_000238.4(KCNH2):c.1764C>A (p.Asn588Lys)

SNV
Germline

Chr7:150951629

Pathogenic/Likely pathogenic

Short QT syndrome type 1
Short QT syndrome
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005420

rs_104894021

4 SubmittersRCV000015518 RCV000057980 RCV004991977 RCV006461165

NM_000238.4(KCNH2):c.2592+1G>A

SNV
Germline

Chr7:150948855

Pathogenic/Likely pathogenic

Long QT syndrome 1/2, digenic
Long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA369854665

rs_1554424772

3 SubmittersRCV000015519 RCV003531902 RCV004719649

NM_000238.4(KCNH2):c.2842C>T (p.Arg948Cys)

SNV
Germline

Chr7:150947729

Conflicting classifications of pathogenicity

Long QT syndrome 1/2, digenic
Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiac arrhythmia
Long QT syndrome 2
Short QT syndrome type 1

Criteria Provided
Conflicting Classifications

CA007496

rs_121912514

7 SubmittersRCV000015524 RCV000058169 RCV001318613 RCV001794448 RCV001841246 RCV002496372

NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly)

SNV
Germline

Chr7:150974720

Conflicting classifications of pathogenicity

Long QT syndrome 2/3, digenic
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Short QT syndrome type 1

Criteria Provided
Conflicting Classifications

CA007737

rs_121912515

5 SubmittersRCV000015525 RCV000058186 RCV000181948 RCV000617723 RCV002247344

NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)

SNV
Germline

Chr7:150947833

Conflicting classifications of pathogenicity

Long QT syndrome 2/9, digenic
Long QT syndrome 2
Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia
not specified

Criteria Provided
Conflicting Classifications

CA007260

rs_77331749

14 SubmittersRCV000015527 RCV000015526 RCV000058156 RCV000204621 RCV000589886 RCV000620709 RCV001841247 RCV006268079

NM_000238.4(KCNH2):c.1672G>C (p.Ala558Pro)

SNV
Germline

Chr7:150951721

Pathogenic

Long QT syndrome 2
Congenital long QT syndrome

No Assertion Criteria Provided

CA004968

rs_121912516

2 SubmittersRCV000015528 RCV000057935

NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)

SNV
Germline

Chr1:156130741

Pathogenic/Likely pathogenic

Dilated cardiomyopathy 1A
Condition: not provided
Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA018140

rs_28933093

19 SubmittersRCV000015598 RCV000057409 RCV000211788 RCV000687241 RCV001170451 RCV003318333 RCV004018635

NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter)

SNV
Germline

Chr3:170999142

Pathogenic

Fanconi-Bickel syndrome
Type 2 diabetes mellitus
Fanconi-Bickel syndrome
Condition: not provided
Congenital long QT syndrome
Glioma susceptibility 1

Criteria Provided
Multiple Submitters
No Conflicts

CA019983

rs_121909742

8 SubmittersRCV000017472 RCV002490379 RCV004719651 RCV004732549 RCV005887534

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
Condition: not provided
Cardiomyopathy
Long QT syndrome
DSG2-related disorder

Criteria Provided
Conflicting Classifications

CA021523

rs_121913013

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

NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)

SNV
Germline

Chr6:7579989

Pathogenic/Likely pathogenic

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Primary dilated cardiomyopathy
Long QT syndrome
Condition: not provided
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
Cardiomyopathy
Primary dilated cardiomyopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA004255

rs_121912997

10 SubmittersRCV000018339 RCV000157195 RCV000598733 RCV001851909 RCV002354165 RCV003531904 RCV004786273

NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)

SNV
Germline

Chr12:2504944

Pathogenic

Timothy syndrome
Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 8
Timothy syndrome
Brugada syndrome 3
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Long QT syndrome 8
CACNA1C-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA301246

rs_79891110

13 SubmittersRCV000019199 RCV000058285 RCV000170771 RCV000199739 RCV002354166 RCV003224103 RCV003332999 RCV003985262

NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser)

SNV
Germline

Chr12:2504932

Pathogenic

Timothy syndrome
Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA329627

rs_80315385

5 SubmittersRCV000019200 RCV000058284 RCV000422493 RCV001851937

NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)

SNV
Germline

Chr12:2550020

Conflicting classifications of pathogenicity

Brugada syndrome 3
Brugada syndrome
not specified
Timothy syndrome
Cardiovascular phenotype
Condition: not provided
Long QT syndrome
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA264819

rs_121912775

15 SubmittersRCV000019201 RCV000058286 RCV000170775 RCV000334098 RCV000618330 RCV000586094 RCV001085545 RCV003944830

NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)

SNV
Germline

Chr4:113348277

Conflicting classifications of pathogenicity

Long QT syndrome 4
Cardiac arrhythmia, ankyrin-B-related
Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Conduction disorder of the heart
not specified

Criteria Provided
Conflicting Classifications

CA127763

rs_72544141

12 SubmittersRCV000019672 RCV000019673 RCV000058356 RCV000171737 RCV000170702 RCV000244762 RCV000845369 RCV001002092

NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)

SNV
Germline

Chr4:113367764

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
not specified
Cardiovascular phenotype
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA145030

rs_121912705

16 SubmittersRCV000019674 RCV000204635 RCV000223796 RCV000618056 RCV000723633 RCV001841248

NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp)

SNV
Germline

Chr4:113373306

Conflicting classifications of pathogenicity

Long QT syndrome 4
Death in infancy
not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiac arrhythmia
ANK2-related disorder

Criteria Provided
Conflicting Classifications

CA127768

rs_121912706

15 SubmittersRCV000019676 RCV000234999 RCV000211890 RCV000474063 RCV000620379 RCV000852983 RCV001082560 RCV001145853 RCV001841250 RCV003904850

NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)

SNV
Germline

Chr7:150951552

Pathogenic

Long QT syndrome 2
Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005654

rs_199472944

10 SubmittersRCV000022643 RCV000058010 RCV000254785 RCV000462085 RCV002408476

NM_000238.4(KCNH2):c.1831T>C (p.Tyr611His)

SNV
Germline

Chr7:150951562

Pathogenic

Long QT syndrome 2
Congenital long QT syndrome

No Assertion Criteria Provided

CA005621

rs_199472942

2 SubmittersRCV000022644 RCV000058006

NM_000891.3(KCNJ2):c.913A>C (p.Thr305Pro)

SNV
Germline

Chr17:70175952

Pathogenic

Andersen Tawil syndrome
Congenital long QT syndrome

No Assertion Criteria Provided

CA259745

rs_199473387

2 SubmittersRCV000023028 RCV000058335

NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)

SNV
Germline

Chr17:70175316

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 9
Atrial fibrillation
Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome
Andersen Tawil syndrome
Short QT syndrome type 3
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA128946

rs_147750704

10 SubmittersRCV000023029 RCV000148540 RCV000170978 RCV000544361 RCV001127504 RCV001127505 RCV002433466 RCV003318334

NM_033337.3(CAV3):c.169G>A (p.Val57Met)

SNV
Germline

Chr3:8745580

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA215150

rs_116840795

7 SubmittersRCV000024391 RCV000706810 RCV001171082 RCV004017265 RCV004782023

NM_033337.3(CAV3):c.79C>G (p.Arg27Gly)

SNV
Germline

Chr3:8733955

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Single Submitter

CA215172

rs_199476324

2 SubmittersRCV000024407 RCV002513227

NM_033337.3(CAV3):c.100G>A (p.Glu34Lys)

SNV
Germline

Chr3:8733976

Conflicting classifications of pathogenicity

Condition: not provided
Rippling muscle disease 2
Long QT syndrome
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA215184

rs_199476325

5 SubmittersRCV000024415 RCV000234023 RCV000560643 RCV000770194 RCV004018672

NM_033337.3(CAV3):c.301T>C (p.Trp101Arg)

SNV
Germline

Chr3:8745712

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA215196

rs_199476337

4 SubmittersRCV000024420 RCV001852570

NM_033337.3(CAV3):c.114+2T>C

SNV
Germline

Chr3:8733992

Pathogenic

Condition: not provided
Long QT syndrome
Distal myopathy, Tateyama type
Rippling muscle disease 2
Hypertrophic cardiomyopathy 1
Elevated circulating creatine kinase concentration
Long QT syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA215208

rs_116840787

3 SubmittersRCV000024426 RCV001238633 RCV002496441

NM_033337.3(CAV3):c.80G>C (p.Arg27Pro)

SNV
Germline

Chr3:8733956

Conflicting classifications of pathogenicity

Condition: not provided
CAV3-related disorder
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA215237

rs_116840778

3 SubmittersRCV000024438 RCV003407362 RCV002513228

NM_005751.5(AKAP9):c.4837A>G (p.Met1613Val)

SNV
Germline

Chr7:92040818

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA213516

rs_193922723

6 SubmittersRCV000202769 RCV000542732 RCV001551993 RCV001841513

NM_001148.6(ANK2):c.3796+18G>A

SNV
Germline

Chr4:113336799

Conflicting classifications of pathogenicity

Condition: not provided
Cardiac arrhythmia
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA213525

rs_66792339

4 SubmittersRCV001650843 RCV001841515 RCV002054478

NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile)

SNV
Germline

Chr4:113356784

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA213530

rs_193922637

4 SubmittersRCV000691559 RCV001775543 RCV002415429 RCV005414253

NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser)

SNV
Germline

Chr12:2691089

Conflicting classifications of pathogenicity

not specified
Cardiac arrhythmia
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA213545

rs_193922616

4 SubmittersRCV000170764 RCV001841523 RCV001852586 RCV005318315

NM_033337.3(CAV3):c.417C>T (p.Val139=)

SNV
Germline

Chr3:8745828

Conflicting classifications of pathogenicity

Cardiomyopathy
Long QT syndrome
Caveolinopathy
Condition: not provided
Cardiovascular phenotype
not specified
CAV3-related disorder

Criteria Provided
Conflicting Classifications

CA325683

rs_147250678

11 SubmittersRCV000029456 RCV000226274 RCV000349095 RCV000379233 RCV000620134 RCV001699183 RCV003914865

NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu)

SNV
Germline

Chr7:150947340

Conflicting classifications of pathogenicity

Condition: not provided
Torsades de pointes
Sudden unexplained death
Long QT syndrome 2
Cardiovascular phenotype
Long QT syndrome
not specified
Cardiac arrhythmia
KCNH2-related disorder

Criteria Provided
Conflicting Classifications

CA008041

rs_36210421

17 SubmittersRCV000058202 RCV000171814 RCV000172896 RCV000203011 RCV000243613 RCV000401763 RCV000517346 RCV001841531 RCV004549392

NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)

SNV
Germline

Chr11:2572970

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Cardiovascular phenotype
Long QT syndrome 1
Condition: not provided
Cardiac arrhythmia
Incidental Discovery

Criteria Provided
Multiple Submitters
No Conflicts

CA008587

rs_193922365

16 SubmittersRCV000030111 RCV000057792 RCV000618395 RCV000709734 RCV001532623 RCV005402806 RCV006555026

NM_000335.5(SCN5A):c.2436+12G>A

SNV
Germline

Chr3:38587388

Conflicting classifications of pathogenicity

Cardiomyopathy
not specified
Ventricular fibrillation, paroxysmal familial, type 1
Brugada syndrome 1
Sick sinus syndrome 1
Progressive familial heart block, type 1A
Long QT syndrome 3
Dilated cardiomyopathy 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA016146

rs_41312419

12 SubmittersRCV000030437 RCV000041610 RCV000302686 RCV000336094 RCV000362031 RCV000404199 RCV000337701 RCV000393121 RCV001529361

NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=)

SNV
Germline

Chr3:38560174

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017977

rs_41311123

20 SubmittersRCV000030440 RCV000041622 RCV000246331 RCV000713142 RCV001082798 RCV001146498 RCV001146499 RCV001149266 RCV001149267 RCV001146497 RCV001146496 RCV001841548

NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=)

SNV
Germline

Chr3:38555689

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018381

rs_45548237

18 SubmittersRCV000030442 RCV000041623 RCV000199109 RCV000246870 RCV001144455 RCV001146361 RCV001146363 RCV001144454 RCV001144456 RCV001146362 RCV001841549 RCV003486547

NM_000335.5(SCN5A):c.630G>A (p.Val210=)

SNV
Germline

Chr3:38613816

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019666

rs_193922727

18 SubmittersRCV000030445 RCV000151806 RCV000620296 RCV000757740 RCV001149163 RCV001150668 RCV001150667 RCV001150669 RCV001150670 RCV001150671 RCV001841552

NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)

SNV
Germline

Chr3:38613799

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019682

rs_41276525

27 SubmittersRCV000058831 RCV000151805 RCV000248707 RCV000852966 RCV001081940 RCV001149159 RCV001149161 RCV001149157 RCV001149158 RCV001149160 RCV001149162 RCV001841553 RCV003224111

NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)

SNV
Germline

Chr11:2571333

Pathogenic

Long QT syndrome 1
Condition: not provided
Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype
KCNQ1-related disorder
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA007777

rs_151344631

14 SubmittersRCV000030815 RCV000057723 RCV000119056 RCV000148547 RCV000252730 RCV005229835 RCV006547505

NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)

SNV
Germline

Chr3:38613781

Pathogenic

Dilated cardiomyopathy 1E
Congenital long QT syndrome
Condition: not provided
Primary dilated cardiomyopathy
8 conditions
Long QT syndrome 3
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA019704

rs_45546039

14 SubmittersRCV000032639 RCV000058833 RCV000182941 RCV000211852 RCV000763109 RCV000678965 RCV005403729

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_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)

SNV
Germline

Chr12:112489093

Pathogenic

RASopathy
LEOPARD syndrome 1
Condition: not provided
Noonan syndrome with multiple lentigines
Noonan syndrome
Cardiovascular phenotype
Congenital long QT syndrome
PTPN11-related disorder
Noonan syndrome 1

Reviewed By Expert Panel

CA235331

rs_397507548

17 SubmittersRCV000033550 RCV000055887 RCV000157683 RCV000154371 RCV001849289 RCV002390133 RCV004732584 RCV004541060 RCV004554638

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

SNV
Germline

Chr1:115768445

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA301925

rs_397507556

9 SubmittersRCV000033942 RCV000170900 RCV003318336 RCV002513332 RCV005428996 RCV005305949

NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly)

SNV
Germline

Chr11:47351383

Conflicting classifications of pathogenicity

not specified
Hypertrophic cardiomyopathy
Cardiomyopathy
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA010476

rs_373164247

11 SubmittersRCV000035404 RCV001057933 RCV000770384 RCV001701644 RCV003318337 RCV004018742

NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly)

SNV
Germline

Chr11:47349779

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy 4
Hypertrophic cardiomyopathy
Left ventricular noncompaction 10
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA015609

rs_138753870

14 SubmittersRCV000035656 RCV000172559 RCV000618826 RCV000771156 RCV001105225 RCV001082031 RCV001105224 RCV003318339

NM_001018005.2(TPM1):c.240+4430G>A

SNV
Germline

Chr15:63048582

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Paroxysmal familial ventricular fibrillation

Criteria Provided
Conflicting Classifications

CA018745

rs_397516490

2 SubmittersRCV000036633 RCV005054144

NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)

SNV
Germline

Chr6:7581408

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004588

rs_142885240

22 SubmittersRCV000038062 RCV000172543 RCV000291666 RCV000376629 RCV000406700 RCV000415071 RCV000621777 RCV000769232 RCV001095215 RCV001082740 RCV003318345 RCV003974881

NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)

SNV
Germline

Chr12:32841139

Conflicting classifications of pathogenicity

not specified
Familial isolated arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular dysplasia 9
Arrhythmogenic right ventricular cardiomyopathy
Cardiovascular phenotype
Premature ventricular contraction
Brugada syndrome
Cardiomyopathy
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA010636

rs_146882581

24 SubmittersRCV000038172 RCV000148726 RCV000205511 RCV000239283 RCV000621305 RCV000852676 RCV000771145 RCV001705683 RCV003318346

NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)

SNV
Germline

Chr12:32796167

Conflicting classifications of pathogenicity

not specified
Familial isolated arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular cardiomyopathy
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 9
Cardiomyopathy
Condition: not provided
Long QT syndrome
PKP2-related disorder

Criteria Provided
Conflicting Classifications

CA010668

rs_139734328

23 SubmittersRCV000038209 RCV000148730 RCV000190558 RCV000244829 RCV000458904 RCV000776101 RCV000858416 RCV003318347 RCV003934921

NM_033337.3(CAV3):c.276C>T (p.Phe92=)

SNV
Germline

Chr3:8745687

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Long QT syndrome
Caveolinopathy
CAV3-related disorder

Criteria Provided
Conflicting Classifications

CA138566

rs_72546669

16 SubmittersRCV000039802 RCV000622151 RCV000725467 RCV000769175 RCV001085894 RCV001144020 RCV003924952

NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)

SNV
Germline

Chr2:178698879

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tibial muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Hypertrophic cardiomyopathy
Cardiomyopathy
Long QT syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139329

rs_111671438

20 SubmittersRCV000040111 RCV000172682 RCV000578036 RCV000577956 RCV000578117 RCV000852879 RCV001084360 RCV001129423 RCV001129424 RCV004541143

NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)

SNV
Germline

Chr2:178614880

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy, myofibrillar, 9, with early respiratory failure
Early-onset myopathy with fatal cardiomyopathy
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Cardiomyopathy
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Long QT syndrome
Tip-toe gait
TTN-related disorder

Criteria Provided
Conflicting Classifications

CA139792

rs_72677242

16 SubmittersRCV000040294 RCV000172666 RCV000244085 RCV000337051 RCV000278356 RCV000284453 RCV000335718 RCV000406708 RCV000768998 RCV001081356 RCV000852850 RCV001358658 RCV004528209

NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)

SNV
Germline

Chr2:178593006

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Arrhythmogenic right ventricular dysplasia 9
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA140129

rs_72646839

12 SubmittersRCV000040416 RCV000469250 RCV000491963 RCV000725816 RCV000852513 RCV002321523

NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)

SNV
Germline

Chr2:178539675

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA284164

rs_149001703

23 SubmittersRCV000040869 RCV000419770 RCV000621374 RCV000768846 RCV000852783 RCV001082901 RCV001129725 RCV001132433 RCV001129726 RCV001132434 RCV001132435

NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp)

SNV
Germline

Chr3:38604806

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014875

rs_144511230

18 SubmittersRCV000041599 RCV000058424 RCV000203074 RCV000238622 RCV000249137 RCV001148784 RCV001148786 RCV001148783 RCV001148785 RCV001148787 RCV001148788 RCV001841588

NM_000335.5(SCN5A):c.1681C>T (p.Leu561=)

SNV
Germline

Chr3:38603921

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015163

rs_45522138

20 SubmittersRCV000041605 RCV000248733 RCV000272112 RCV000293403 RCV000329437 RCV000386322 RCV000388793 RCV000586693 RCV001094812 RCV001841594 RCV003486624

NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile)

SNV
Germline

Chr3:38585708

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Ventricular tachycardia
Brugada syndrome
Long QT syndrome 3
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA016475

rs_199473177

9 SubmittersRCV000041611 RCV000058525 RCV000157486 RCV000238603 RCV001841599 RCV004018914

NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln)

SNV
Germline

Chr3:38633255

Conflicting classifications of pathogenicity

not specified
Congenital long QT syndrome
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
Brugada syndrome 1
Long QT syndrome 3
Brugada syndrome 1

Criteria Provided
Conflicting Classifications

CA019208

rs_41311087

11 SubmittersRCV000041626 RCV000058779 RCV000766749 RCV001841609 RCV002345328 RCV005049408 RCV006434915

NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)

SNV
Germline

Chr3:38550661

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Long QT syndrome
Death in infancy
Cardiovascular phenotype
Brugada syndrome 1
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA019439

rs_150264233

11 SubmittersRCV000041630 RCV000058802 RCV000148839 RCV000234983 RCV000620507 RCV000987195 RCV001841613

NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu)

SNV
Germline

Chr3:38550487

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019523

rs_199473638

8 SubmittersRCV000041634 RCV000058813 RCV000620208 RCV001145796 RCV001145797 RCV001145798 RCV001145799 RCV001145800 RCV001145801 RCV001841616

NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)

SNV
Germline

Chr3:38550362

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019578

rs_41311117

22 SubmittersRCV000041636 RCV000058821 RCV000171818 RCV000202785 RCV000251940 RCV000678922 RCV000852960 RCV001145574 RCV001145575 RCV001145687 RCV001145688 RCV001145689 RCV001841618

NM_000335.5(SCN5A):c.717C>T (p.Ile239=)

SNV
Germline

Chr3:38609951

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019760

rs_41285129

20 SubmittersRCV000041638 RCV000249766 RCV000590534 RCV001144458 RCV001150547 RCV001144457 RCV001150548 RCV001144459 RCV001144460 RCV001841619 RCV003486627

NM_000218.3(KCNQ1):c.1013C>T (p.Ser338Phe)

SNV
Germline

Chr11:2583526

Pathogenic

Long QT syndrome
Congenital long QT syndrome

Criteria Provided
Single Submitter

CA004825

rs_199472758

2 SubmittersRCV000045928 RCV000057523

NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser)

SNV
Germline

Chr11:2583529

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA004838

rs_199472759

6 SubmittersRCV000057525 RCV000182311 RCV000515709 RCV002336178 RCV002514220

NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe)

SNV
Germline

Chr11:2583537

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA004906

rs_199472760

5 SubmittersRCV000057529 RCV000182312 RCV000617516 RCV000845338

NM_000218.3(KCNQ1):c.1027C>T (p.Pro343Ser)

SNV
Germline

Chr11:2583540

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA004923

rs_199472762

3 SubmittersRCV000057530 RCV001387951 RCV003362679

NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val)

SNV
Germline

Chr11:2583544

Pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 1
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA004967

rs_199472763

14 SubmittersRCV000057534 RCV000223824 RCV001384422 RCV002381340 RCV002470738 RCV003591636

NM_000218.3(KCNQ1):c.1032+1G>A

SNV
Germline

Chr11:2583546

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA004984

rs_397508070

4 SubmittersRCV000182161 RCV000190169 RCV003162395

NM_000218.3(KCNQ1):c.1032+5G>A

SNV
Germline

Chr11:2583550

Pathogenic/Likely pathogenic

Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA004997

rs_397508071

3 SubmittersRCV000577113

NM_000218.3(KCNQ1):c.1032G>C (p.Ala344=)

SNV
Germline

Chr11:2583545

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005015

rs_1800171

2 SubmittersRCV000182160 RCV005089428

NM_000218.3(KCNQ1):c.1033G>C (p.Gly345Arg)

SNV
Germline

Chr11:2585212

Pathogenic

Long QT syndrome
Congenital long QT syndrome

Criteria Provided
Single Submitter

CA005053

rs_199473471

2 SubmittersRCV000045943 RCV000057535

NM_000218.3(KCNQ1):c.1045T>C (p.Ser349Pro)

SNV
Germline

Chr11:2585224

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA005070

rs_199472764

3 SubmittersRCV000057537 RCV001378980

NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp)

SNV
Germline

Chr11:2585225

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005079

rs_199472765

6 SubmittersRCV000057538 RCV000182330 RCV001377773 RCV003162396

NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)

SNV
Germline

Chr11:2585245

Pathogenic

Long QT syndrome
Condition: not provided
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Cardiovascular phenotype
Cardiac arrhythmia
Congenital long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005143

rs_397508072

12 SubmittersRCV000045950 RCV000182167 RCV000678957 RCV001258105 RCV002408545 RCV003155055 RCV004017346

NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)

SNV
Germline

Chr11:2585254

Pathogenic

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Long QT syndrome 1
KCNQ1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA005174

rs_397508075

14 SubmittersRCV000045954 RCV000223715 RCV000617465 RCV001841622 RCV002496699 RCV003319304 RCV004732637

NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)

SNV
Germline

Chr11:2585264

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Short QT syndrome type 2
Long QT syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Cardiac arrhythmia
Cardiovascular phenotype
Short QT syndrome type 2
Long QT syndrome 1
Atrial fibrillation, familial, 3
KCNQ1-related disorder
Short QT syndrome type 2
Long QT syndrome 1
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA005223

rs_12720458

24 SubmittersRCV000045957 RCV000057548 RCV000223836 RCV000762835 RCV000851291 RCV001841623 RCV003162397 RCV003330078 RCV003335077 RCV003448253 RCV005862750

NM_000218.3(KCNQ1):c.1087C>A (p.His363Asn)

SNV
Germline

Chr11:2585266

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA005231

rs_199473408

3 SubmittersRCV000057549 RCV000182172 RCV001306051

NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)

SNV
Germline

Chr11:2585275

Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiovascular phenotype
Jervell and Lange-Nielsen syndrome 1

Reviewed By Expert Panel

CA005255

rs_199473411

17 SubmittersRCV000045959 RCV000057551 RCV000182173 RCV000496023 RCV000617196 RCV004760361

NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)

SNV
Germline

Chr11:2585276

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA005263

rs_199473410

20 SubmittersRCV000057552 RCV000786152 RCV001384915 RCV002251734 RCV002054871 RCV005401308

NM_000218.3(KCNQ1):c.1097G>C (p.Arg366Pro)

SNV
Germline

Chr11:2585276

Pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA005270

rs_199473410

2 SubmittersRCV000057553 RCV002514222

NM_000218.3(KCNQ1):c.1101G>T (p.Gln367His)

SNV
Germline

Chr11:2585280

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA005281

rs_199473663

2 SubmittersRCV000057554 RCV001350647

NM_000218.3(KCNQ1):c.1111G>A (p.Ala371Thr)

SNV
Germline

Chr11:2585290

Likely pathogenic

Congenital long QT syndrome
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA005300

rs_199473412

2 SubmittersRCV000057555 RCV004991997

NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His)

SNV
Germline

Chr11:2585300

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Cardiovascular phenotype
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA005326

rs_199472767

7 SubmittersRCV000045965 RCV000057558 RCV000618916 RCV000721103 RCV001841624

NM_000218.3(KCNQ1):c.1128+1G>T

SNV
Germline

Chr11:2585308

Likely pathogenic

Long QT syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA005355

rs_397508078

3 SubmittersRCV000576927 RCV002223777

NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser)

SNV
Germline

Chr11:2587581

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Cardiovascular phenotype
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA005394

rs_199472771

4 SubmittersRCV000045968 RCV000057563 RCV002453353 RCV003319305

NM_000218.3(KCNQ1):c.1178A>T (p.Lys393Met)

SNV
Germline

Chr11:2587619

Conflicting classifications of pathogenicity

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA005470

rs_199472775

5 SubmittersRCV000045973 RCV000057569 RCV000218718 RCV001841625

NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)

SNV
Germline

Chr11:2587630

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiovascular phenotype
Wolff-Parkinson-White pattern
not specified
Cardiac arrhythmia
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Atrial fibrillation, familial, 3

Criteria Provided
Conflicting Classifications

CA005482

rs_199472776

17 SubmittersRCV000057571 RCV000148545 RCV000182181 RCV000203070 RCV000619428 RCV000656189 RCV000825350 RCV001841626 RCV002467560

NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp)

SNV
Germline

Chr11:2588815

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA005672

rs_140452381

11 SubmittersRCV000057582 RCV000224680 RCV000148551 RCV000621439 RCV000764974 RCV001248784 RCV001841631

NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter)

SNV
Germline

Chr11:2662080

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome 1
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Atrial fibrillation, familial, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA005820

rs_397508091

7 SubmittersRCV000614087 RCV000577463 RCV000622334 RCV001659985 RCV002390193 RCV006449268

NM_000218.3(KCNQ1):c.1514+1G>A

SNV
Germline

Chr11:2662082

Pathogenic

Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA005829

rs_397508093

2 SubmittersRCV000577184 RCV000617855

NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter)

SNV
Germline

Chr11:2445251

Pathogenic/Likely pathogenic

Long QT syndrome
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
Congenital long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005867

rs_397508096

5 SubmittersRCV000045993 RCV000182246 RCV001841633 RCV002399405 RCV004017347

NM_000218.3(KCNQ1):c.1541T>C (p.Ile514Thr)

SNV
Germline

Chr11:2768870

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005875

rs_199472786

3 SubmittersRCV000057590 RCV000790440 RCV005582260

NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly)

SNV
Germline

Chr11:2768881

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005889

rs_17215500

4 SubmittersRCV000045995 RCV000057592 RCV000735257 RCV004017348

NM_000218.3(KCNQ1):c.1559T>G (p.Met520Arg)

SNV
Germline

Chr11:2768888

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA005930

rs_199473479

7 SubmittersRCV000045999 RCV000057597 RCV000182199 RCV000621710 RCV004786319

NM_000218.3(KCNQ1):c.1571T>G (p.Val524Gly)

SNV
Germline

Chr11:2768900

Pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005943

rs_199472790

6 SubmittersRCV000046000 RCV000057599 RCV000182201 RCV004017349

NM_000218.3(KCNQ1):c.1576A>G (p.Lys526Glu)

SNV
Germline

Chr11:2768905

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005962

rs_199472792

6 SubmittersRCV000057602 RCV000148558 RCV000182203 RCV004786320 RCV004018943

NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)

SNV
Germline

Chr11:2768917

Pathogenic

Long QT syndrome
Condition: not provided
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Short QT syndrome type 2
Cardiovascular phenotype
Long QT syndrome 1
Cardiac arrhythmia
Jervell and Lange-Nielsen syndrome 1
KCNQ1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA005967

rs_397508097

17 SubmittersRCV000046003 RCV000182204 RCV000515204 RCV000619891 RCV001029805 RCV001841634 RCV001847642 RCV004528255

NM_000218.3(KCNQ1):c.1608C>A (p.Tyr536Ter)

SNV
Germline

Chr11:2775977

Pathogenic

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005987

rs_138551008

3 SubmittersRCV000182320 RCV001857383 RCV005582261

NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)

SNV
Germline

Chr11:2775984

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Long QT syndrome 1
Cardiovascular phenotype
KCNQ1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA005994

rs_199472795

14 SubmittersRCV000046006 RCV000057604 RCV000223851 RCV000762836 RCV001248800 RCV002390194 RCV004732638

NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu)

SNV
Germline

Chr11:2776006

Pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006028

rs_199473480

10 SubmittersRCV000046008 RCV000057608 RCV000182209 RCV000619557 RCV001841635 RCV001807769

NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)

SNV
Germline

Chr11:2776033

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 1
Short QT syndrome type 2
Long QT syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Cardiac arrhythmia
Short QT syndrome type 2
Long QT syndrome 1
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006147

rs_199472800

14 SubmittersRCV000046012 RCV000057614 RCV000182212 RCV000619418 RCV003319308 RCV002483049 RCV003591637 RCV006257263

NM_000218.3(KCNQ1):c.1697C>A (p.Ser566Tyr)

SNV
Germline

Chr11:2776997

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA006206

rs_199472804

4 SubmittersRCV000046014 RCV000057618 RCV000505737 RCV003591638

NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)

SNV
Germline

Chr11:2776997

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
not specified
Cardiovascular phenotype
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006211

rs_199472804

13 SubmittersRCV000046015 RCV000057619 RCV000223686 RCV000477954 RCV000678814 RCV002399406 RCV002504937

NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr)

SNV
Germline

Chr11:2777000

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA006217

rs_199472805

7 SubmittersRCV000046016 RCV000057620 RCV000182217 RCV001258363 RCV001841636 RCV002399407

NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)

SNV
Germline

Chr11:2777002

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Cardiovascular phenotype
Condition: not provided
not specified
Long QT syndrome
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006232

rs_199472807

8 SubmittersRCV000057622 RCV000250706 RCV000505735 RCV000678815 RCV001192510 RCV002496701

NM_000218.3(KCNQ1):c.1703G>C (p.Gly568Ala)

SNV
Germline

Chr11:2777003

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome 1
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006239

rs_199472806

4 SubmittersRCV000057623 RCV000239705 RCV002408546 RCV005089429

NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr)

SNV
Germline

Chr11:2778011

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
not specified
Long QT syndrome 1
Cardiac arrhythmia
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA006354

rs_199472813

8 SubmittersRCV000057634 RCV000182224 RCV000223805 RCV001027732 RCV001841637 RCV001852971

NM_000218.3(KCNQ1):c.1771C>T (p.Arg591Cys)

SNV
Germline

Chr11:2778014

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Cardiac arrhythmia
Condition: not provided
Long QT syndrome
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006360

rs_199473483

6 SubmittersRCV000057635 RCV001841638 RCV002223778 RCV002513651 RCV004795975

NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His)

SNV
Germline

Chr11:2778015

Pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA006369

rs_199472814

12 SubmittersRCV000057636 RCV000505785 RCV000678914 RCV001388792 RCV002399408 RCV006547566

NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)

SNV
Germline

Chr11:2778024

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Short QT syndrome type 2
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA006388

rs_199472815

21 SubmittersRCV000046031 RCV000057637 RCV000182228 RCV000247524 RCV001258107 RCV001731336 RCV002496702 RCV003224128 RCV003591639

NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro)

SNV
Germline

Chr11:2778024

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA006395

rs_199472815

5 SubmittersRCV000046032 RCV000057638 RCV000182324 RCV000620919

NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser)

SNV
Germline

Chr11:2445117

Conflicting classifications of pathogenicity

Congenital long QT syndrome
not specified
Long QT syndrome 1
Long QT syndrome
Condition: not provided
Long QT syndrome 1
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006651

rs_199473443

9 SubmittersRCV000057653 RCV000454712 RCV000495985 RCV001305107 RCV002223779 RCV002483050 RCV004018946

NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys)

SNV
Germline

Chr11:2445430

Pathogenic

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006810

rs_199472678

8 SubmittersRCV000057659 RCV000182260 RCV002321544 RCV002513652 RCV004786322

NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro)

SNV
Germline

Chr11:2445439

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA006819

rs_199473448

3 SubmittersRCV000057660 RCV001378785 RCV002453354

NM_000218.3(KCNQ1):c.344A>G (p.Glu115Gly)

SNV
Germline

Chr11:2445442

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA006838

rs_199472679

4 SubmittersRCV000057661 RCV001312785 RCV002453355 RCV005000991

NM_000218.3(KCNQ1):c.365G>A (p.Cys122Tyr)

SNV
Germline

Chr11:2445463

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA006889

rs_199472681

3 SubmittersRCV000057664 RCV000182262 RCV001368545

NM_000218.3(KCNQ1):c.409C>T (p.Leu137Phe)

SNV
Germline

Chr11:2527950

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA007018

rs_199473450

3 SubmittersRCV000057671 RCV000182252 RCV001852976

NM_000218.3(KCNQ1):c.477+5G>A

SNV
Germline

Chr11:2528023

Likely pathogenic

Long QT syndrome
Condition: not provided
Long QT syndrome 1
Congenital long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome
Long QT syndrome 1

Reviewed By Expert Panel

CA007174

rs_397508111

17 SubmittersRCV000046061 RCV000182254 RCV000851189 RCV000826192 RCV001841645 RCV002336179 RCV005862751

NM_000218.3(KCNQ1):c.478G>A (p.Glu160Lys)

SNV
Germline

Chr11:2570628

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA007208

rs_199473453

3 SubmittersRCV000057681 RCV002336180 RCV002514225

NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)

SNV
Germline

Chr11:2570652

Pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiovascular phenotype
Cardiac arrhythmia
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007263

rs_179489

14 SubmittersRCV000046066 RCV000057684 RCV000223900 RCV000234807 RCV000588586 RCV001841646 RCV004795976

NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg)

SNV
Germline

Chr11:2570652

Pathogenic

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007272

rs_179489

7 SubmittersRCV000057685 RCV000182077 RCV000618982 RCV000627154

NM_000218.3(KCNQ1):c.506C>G (p.Thr169Arg)

SNV
Germline

Chr11:2570656

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome 1

Criteria Provided
Single Submitter

CA007290

rs_199472693

2 SubmittersRCV000057686 RCV003319309

NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter)

SNV
Germline

Chr11:2570663

Pathogenic

Long QT syndrome
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA007295

rs_139042529

4 SubmittersRCV000046070 RCV002490607 RCV004018949 RCV005252717

NM_000218.3(KCNQ1):c.518T>A (p.Val173Asp)

SNV
Germline

Chr11:2570668

Pathogenic

Congenital long QT syndrome
Recurrent spontaneous abortion

Criteria Provided
Single Submitter

CA007313

rs_199472695

2 SubmittersRCV000057688 RCV001530975

NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)

SNV
Germline

Chr11:2570670

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiac arrhythmia
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA007321

rs_199472696

14 SubmittersRCV000046072 RCV000057689 RCV000182078 RCV000587627 RCV001841647 RCV002504938 RCV002345338

NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)

SNV
Germline

Chr11:2570671

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Long QT syndrome
Short QT syndrome type 2
Long QT syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA007329

rs_199472697

10 SubmittersRCV000057690 RCV000223741 RCV000984322 RCV001386000 RCV002496703 RCV002336182 RCV006547567

NM_000218.3(KCNQ1):c.521G>C (p.Arg174Pro)

SNV
Germline

Chr11:2570671

Likely pathogenic

Congenital long QT syndrome
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA007337

rs_199472697

2 SubmittersRCV000057691 RCV003162398

NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)

SNV
Germline

Chr11:2570682

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA007353

rs_120074177

14 SubmittersRCV000057692 RCV000148553 RCV000182081 RCV000244422 RCV001028063 RCV001258060 RCV003591642

NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)

SNV
Germline

Chr11:2570685

Pathogenic

Congenital long QT syndrome
Long QT syndrome
Long QT syndrome 1
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia
KCNQ1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA007379

rs_199473394

17 SubmittersRCV000057694 RCV000148544 RCV000234794 RCV000505781 RCV000620835 RCV001841648 RCV004542712

NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser)

SNV
Germline

Chr11:2570701

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA007421

rs_199473397

4 SubmittersRCV000057698 RCV000988472 RCV002345339

NM_000218.3(KCNQ1):c.556G>C (p.Gly186Arg)

SNV
Germline

Chr11:2570706

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007440

rs_199473398

3 SubmittersRCV000057700 RCV001379025 RCV002223780

NM_000218.3(KCNQ1):c.560T>C (p.Leu187Pro)

SNV
Germline

Chr11:2570710

Conflicting classifications of pathogenicity

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007460

rs_199473399

5 SubmittersRCV000046081 RCV000057701 RCV000182084 RCV003319310 RCV004017352

NM_000218.3(KCNQ1):c.566G>A (p.Gly189Glu)

SNV
Germline

Chr11:2570716

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA007497

rs_199473400

5 SubmittersRCV000057704 RCV003996475 RCV004017353 RCV005402829

NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp)

SNV
Germline

Chr11:2570718

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Cardiovascular phenotype
Long QT syndrome
Condition: not provided
Long QT syndrome 1
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Long QT syndrome 1
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA007529

rs_199473662

13 SubmittersRCV000057705 RCV000244400 RCV001380572 RCV001705704 RCV002259313 RCV004795977 RCV005402830

NM_000218.3(KCNQ1):c.572T>C (p.Leu191Pro)

SNV
Germline

Chr11:2570722

Pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA007572

rs_199473401

2 SubmittersRCV000057708 RCV006461315

NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)

SNV
Germline

Chr11:2570754

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 1
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA007717

rs_199472702

14 SubmittersRCV000057718 RCV000182091 RCV000620936 RCV001379267 RCV002483052 RCV003236664 RCV003492374 RCV003591645

NM_000218.3(KCNQ1):c.612C>G (p.Ile204Met)

SNV
Germline

Chr11:2571332

Conflicting classifications of pathogenicity

Long QT syndrome
Congenital long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007766

rs_199473455

3 SubmittersRCV000046098 RCV000057722 RCV001507784

NM_000218.3(KCNQ1):c.643G>A (p.Val215Met)

SNV
Germline

Chr11:2571363

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

CA007820

rs_17215479

9 SubmittersRCV000057727 RCV000255103 RCV001295604 RCV003591646 RCV004018950 RCV003485533

NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)

SNV
Germline

Chr11:2571394

Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiac arrhythmia
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Cardiovascular phenotype
KCNQ1-related disorder

Reviewed By Expert Panel

CA007870

rs_199473456

14 SubmittersRCV000046103 RCV000057730 RCV000182302 RCV001256914 RCV001841649 RCV002504939 RCV002362677 RCV003335079

NM_000218.3(KCNQ1):c.683+5G>A

SNV
Germline

Chr11:2571408

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Long QT syndrome
Long QT syndrome 1
Cardiac arrhythmia
Cardiovascular phenotype
Long QT syndrome 1
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3

Criteria Provided
Conflicting Classifications

CA007901

rs_397508122

13 SubmittersRCV000182098 RCV001255476 RCV001389794 RCV002267608 RCV001841650 RCV002362678 RCV005042126

NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp)

SNV
Germline

Chr11:2572015

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Atrial fibrillation, familial, 3
Condition: not provided
Long QT syndrome
KCNQ1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA007911

rs_199472708

5 SubmittersRCV000057732 RCV000115009 RCV000182099 RCV001320480 RCV003335080

NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)

SNV
Germline

Chr11:2572020

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia
Short QT syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007919

rs_199473457

13 SubmittersRCV000057733 RCV000182100 RCV000240642 RCV001385527 RCV002362679 RCV003591647 RCV006436418

NM_000218.3(KCNQ1):c.692G>A (p.Arg231His)

SNV
Germline

Chr11:2572021

Pathogenic

Long QT syndrome
Congenital long QT syndrome
Atrial fibrillation, familial, 3
Long QT syndrome 1
Condition: not provided
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA007925

rs_199472709

9 SubmittersRCV000046107 RCV000057734 RCV000115007 RCV000115008 RCV000182101 RCV000762833 RCV002371883

NM_000218.3(KCNQ1):c.704T>A (p.Ile235Asn)

SNV
Germline

Chr11:2572033

Pathogenic

Long QT syndrome
Congenital long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA007935

rs_199472710

3 SubmittersRCV000046108 RCV000057735 RCV001841651

NM_000218.3(KCNQ1):c.716T>C (p.Leu239Pro)

SNV
Germline

Chr11:2572045

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA007953

rs_199473458

3 SubmittersRCV000057736 RCV002371884 RCV005089430

NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn)

SNV
Germline

Chr11:2572053

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Wolff-Parkinson-White pattern
Cardiovascular phenotype
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007986

rs_199472712

9 SubmittersRCV000046110 RCV000057738 RCV000182103 RCV000656159 RCV002371885 RCV003319312

NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys)

SNV
Germline

Chr11:2572056

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008011

rs_199472713

8 SubmittersRCV000046111 RCV000057741 RCV000255620 RCV002381342 RCV003591648 RCV004786323

NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)

SNV
Germline

Chr11:2572057

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Cardiac arrhythmia
Jervell and Lange-Nielsen syndrome 1
Cardiovascular phenotype
Jervell and Lange-Nielsen syndrome
Long QT syndrome 1
KCNQ1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA008018

rs_120074196

9 SubmittersRCV000057742 RCV001385528 RCV001841652 RCV001807770 RCV002381343 RCV003482908 RCV004786324 RCV004542713

NM_000218.3(KCNQ1):c.752T>C (p.Leu251Pro)

SNV
Germline

Chr11:2572081

Pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008083

rs_199472716

4 SubmittersRCV000057748 RCV000182106 RCV001258361 RCV001852977

NM_000218.3(KCNQ1):c.760G>T (p.Val254Leu)

SNV
Germline

Chr11:2572089

Likely pathogenic

Congenital long QT syndrome
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA008142

rs_120074179

2 SubmittersRCV000057751 RCV000620025

NM_000218.3(KCNQ1):c.773A>G (p.His258Arg)

SNV
Germline

Chr11:2572102

Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008167

rs_199472718

4 SubmittersRCV000057754 RCV000182111 RCV004018951 RCV006249577

NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)

SNV
Germline

Chr11:2572104

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 1
Monogenic hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA008177

rs_199472719

14 SubmittersRCV000046123 RCV000057755 RCV000223916 RCV000619999 RCV000678929 RCV005859485

NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)

SNV
Germline

Chr11:2572105

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiac arrhythmia
Short QT syndrome type 2
Short QT syndrome type 2
Long QT syndrome 1
Atrial fibrillation, familial, 3
KCNQ1-related disorder
Cardiovascular phenotype
Short QT syndrome type 2
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008184

rs_199472720

15 SubmittersRCV000046124 RCV000057756 RCV000182113 RCV000709733 RCV001841653 RCV001843471 RCV001814031 RCV001813753 RCV002408548 RCV004819214

NM_000218.3(KCNQ1):c.776G>T (p.Arg259Leu)

SNV
Germline

Chr11:2572105

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA008191

rs_199472720

4 SubmittersRCV000057757 RCV000182114 RCV001390400 RCV002408549

NM_000218.3(KCNQ1):c.781G>A (p.Glu261Lys)

SNV
Germline

Chr11:2572846

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA008215

rs_199472722

3 SubmittersRCV000057758 RCV001368546 RCV004018952

NM_000218.3(KCNQ1):c.783G>C (p.Glu261Asp)

SNV
Germline

Chr11:2572848

Pathogenic

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA008229

rs_199472721

5 SubmittersRCV000057760 RCV001381194 RCV004696660 RCV005402831

NM_000218.3(KCNQ1):c.794C>T (p.Thr265Ile)

SNV
Germline

Chr11:2572859

Pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA008246

rs_199472724

2 SubmittersRCV000057762 RCV000182115

NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)

SNV
Germline

Chr11:2572862

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 1
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA008262

rs_199473460

15 SubmittersRCV000046131 RCV000057763 RCV000182116 RCV000250332 RCV002483053 RCV004786325 RCV005401309

NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp)

SNV
Germline

Chr11:2572880

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Beckwith-Wiedemann syndrome
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008316

rs_199472726

6 SubmittersRCV000046134 RCV000057767 RCV000523854 RCV002415500 RCV002490608

NM_000218.3(KCNQ1):c.818T>G (p.Leu273Arg)

SNV
Germline

Chr11:2572883

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA008339

rs_199472727

2 SubmittersRCV000057770 RCV001852978

NM_000218.3(KCNQ1):c.830C>G (p.Ser277Trp)

SNV
Germline

Chr11:2572895

Pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA008428

rs_199472730

3 SubmittersRCV000046141 RCV000057774 RCV000182308

NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu)

SNV
Germline

Chr11:2572895

Pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 1
Cardiac arrhythmia
KCNQ1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA008437

rs_199472730

13 SubmittersRCV000046142 RCV000057775 RCV000182123 RCV000619785 RCV003319313 RCV003591649 RCV004528256

NM_000218.3(KCNQ1):c.839T>A (p.Val280Glu)

SNV
Germline

Chr11:2572904

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA008454

rs_199473462

3 SubmittersRCV000046143 RCV000057777 RCV001841654

NM_000218.3(KCNQ1):c.910T>C (p.Trp304Arg)

SNV
Germline

Chr11:2572975

Pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA008598

rs_199473466

2 SubmittersRCV000057794 RCV003531945

NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter)

SNV
Germline

Chr11:2572979

Pathogenic

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Congenital long QT syndrome
Cardiac arrhythmia
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008615

rs_120074186

10 SubmittersRCV000046150 RCV000254708 RCV000619717 RCV000826193 RCV001841658 RCV002496704 RCV006249578

NM_000218.3(KCNQ1):c.921+1G>T

SNV
Germline

Chr11:2572987

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome
Beckwith-Wiedemann syndrome
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA008659

rs_397508130

5 SubmittersRCV000182134 RCV001377884 RCV002496705 RCV002444508

NM_000218.3(KCNQ1):c.926C>T (p.Thr309Ile)

SNV
Germline

Chr11:2583439

Pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA008720

rs_199472743

2 SubmittersRCV000057803 RCV001379437

NM_000218.3(KCNQ1):c.928G>A (p.Val310Ile)

SNV
Germline

Chr11:2583441

Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA008728

rs_199472745

5 SubmittersRCV000057804 RCV000520168 RCV001852980 RCV003591650

NM_000218.3(KCNQ1):c.932C>T (p.Thr311Ile)

SNV
Germline

Chr11:2583445

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

CA008752

rs_199472746

4 SubmittersRCV000057807 RCV002513653 RCV003319314

NM_000218.3(KCNQ1):c.940G>C (p.Gly314Arg)

SNV
Germline

Chr11:2583453

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008777

rs_120074184

3 SubmittersRCV000057811 RCV000621036 RCV005089431

NM_000218.3(KCNQ1):c.941G>A (p.Gly314Asp)

SNV
Germline

Chr11:2583454

Pathogenic

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008793

rs_199472748

4 SubmittersRCV000057813 RCV001555578 RCV002444509 RCV002514226

NM_000218.3(KCNQ1):c.944A>C (p.Tyr315Ser)

SNV
Germline

Chr11:2583457

Pathogenic

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA008803

rs_74462309

4 SubmittersRCV000057815 RCV001387949 RCV002371888 RCV003156223

NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys)

SNV
Germline

Chr11:2583457

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA008807

rs_74462309

12 SubmittersRCV000057816 RCV000182138 RCV000709732 RCV000619103 RCV000678812 RCV005402832

NM_000218.3(KCNQ1):c.944A>T (p.Tyr315Phe)

SNV
Germline

Chr11:2583457

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA008817

rs_74462309

2 SubmittersRCV000057817 RCV003531946

NM_000218.3(KCNQ1):c.946G>A (p.Gly316Arg)

SNV
Germline

Chr11:2583459

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008823

rs_104894255

4 SubmittersRCV000057818 RCV000182139 RCV001368547 RCV003327365

NM_000218.3(KCNQ1):c.947G>A (p.Gly316Glu)

SNV
Germline

Chr11:2583460

Pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA008848

rs_199472749

2 SubmittersRCV000057820 RCV005089432

NM_000218.3(KCNQ1):c.949G>A (p.Asp317Asn)

SNV
Germline

Chr11:2583462

Pathogenic

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008869

rs_199472751

4 SubmittersRCV000057822 RCV000182310 RCV000586037 RCV001389796

NM_000218.3(KCNQ1):c.959C>A (p.Pro320His)

SNV
Germline

Chr11:2583472

Pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA008917

rs_199473470

2 SubmittersRCV000057828 RCV001387950

NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala)

SNV
Germline

Chr11:2583477

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Long QT syndrome 1
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA008936

rs_199472754

8 SubmittersRCV000057829 RCV000182147 RCV001386679 RCV001258360 RCV002381344 RCV006547569

NM_000218.3(KCNQ1):c.965C>A (p.Thr322Lys)

SNV
Germline

Chr11:2583478

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome 1
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA008945

rs_199472755

4 SubmittersRCV000057830 RCV000853590 RCV004017356 RCV004806046

NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met)

SNV
Germline

Chr11:2583478

Pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 1
Short QT syndrome type 2
Long QT syndrome 1
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA008957

rs_199472755

9 SubmittersRCV000057831 RCV000182149 RCV000190213 RCV000247480 RCV004786326 RCV005357373 RCV006547570

NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg)

SNV
Germline

Chr11:2583486

Pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA008972

rs_199472756

11 SubmittersRCV000046184 RCV000057832 RCV000182150 RCV001248782 RCV002371889

NM_000218.3(KCNQ1):c.1016T>A (p.Phe339Tyr)

SNV
Germline

Chr11:2583529

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

CA004833

rs_199472759

3 SubmittersRCV000057524 RCV000703853 RCV000755757

NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly)

SNV
Germline

Chr11:2583535

Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA004889

rs_12720459

4 SubmittersRCV000057527 RCV000182145 RCV002513746 RCV003333023

NM_000218.3(KCNQ1):c.1031C>A (p.Ala344Glu)

SNV
Germline

Chr11:2583544

Pathogenic/Likely pathogenic

Congenital long QT syndrome
not specified
Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA004955

rs_199472763

5 SubmittersRCV000057533 RCV000223742 RCV000617913 RCV001212181 RCV004696675

NM_000218.3(KCNQ1):c.1078A>G (p.Arg360Gly)

SNV
Germline

Chr11:2585257

Pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA005181

rs_199473406

2 SubmittersRCV000057545 RCV005003449

NM_000218.3(KCNQ1):c.1135T>C (p.Trp379Arg)

SNV
Germline

Chr11:2587576

Conflicting classifications of pathogenicity

SUDDEN INFANT DEATH SYNDROME
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA005370

rs_199472768

5 SubmittersRCV000057559 RCV000462343 RCV000505766

NM_000218.3(KCNQ1):c.1174T>C (p.Trp392Arg)

SNV
Germline

Chr11:2587615

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided

No Assertion Criteria Provided

CA005449

rs_199472774

3 SubmittersRCV000057568 RCV001701653

NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)

SNV
Germline

Chr11:2587620

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Cardiomyopathy
Long QT syndrome 1
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA005477

rs_12720457

22 SubmittersRCV000057570 RCV000148543 RCV000154657 RCV000305127 RCV000394030 RCV000306809 RCV000852645 RCV001094051 RCV002336208 RCV001841659

NM_000218.3(KCNQ1):c.1338C>G (p.Asp446Glu)

SNV
Germline

Chr11:2588799

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Cardiac arrhythmia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA005607

rs_199472780

5 SubmittersRCV000057577 RCV001500920 RCV001841661 RCV006272365

NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln)

SNV
Germline

Chr11:2588813

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005664

rs_199472781

9 SubmittersRCV000057581 RCV000148550 RCV001104828 RCV001104830 RCV001104620 RCV001104829 RCV001841665 RCV002381370

NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)

SNV
Germline

Chr11:2588816

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 1
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
not specified
Cardiac arrhythmia
Long QT syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3

Criteria Provided
Conflicting Classifications

CA005679

rs_145229963

9 SubmittersRCV000057583 RCV000246256 RCV000297971 RCV000764975 RCV001255594 RCV001841666 RCV003448257

NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln)

SNV
Germline

Chr11:2768882

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
not specified
Cardiac arrhythmia
Long QT syndrome 1
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005903

rs_145974930

10 SubmittersRCV000057593 RCV000148557 RCV000505803 RCV001824592 RCV001841668 RCV002483092 RCV003162436

NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His)

SNV
Germline

Chr11:2768885

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Cardiac arrhythmia
Cardiovascular phenotype
KCNQ1-related disorder

Criteria Provided
Conflicting Classifications

CA005923

rs_199472788

9 SubmittersRCV000057596 RCV000543065 RCV000988473 RCV001104917 RCV001106072 RCV001104916 RCV001841670 RCV004018993 RCV004537258

NM_000218.3(KCNQ1):c.1565A>C (p.Tyr522Ser)

SNV
Germline

Chr11:2768894

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005936

rs_199472789

4 SubmittersRCV000057598 RCV000182200 RCV002399418

NM_000218.3(KCNQ1):c.1574C>T (p.Ala525Val)

SNV
Germline

Chr11:2768903

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

CA005956

rs_199472791

3 SubmittersRCV000057601 RCV001854180 RCV003319316

NM_000218.3(KCNQ1):c.1597C>T (p.Arg533Trp)

SNV
Germline

Chr11:2775966

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome 1
Long QT syndrome
Cardiac arrhythmia
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005979

rs_199472793

7 SubmittersRCV000057603 RCV000234802 RCV000456908 RCV001841671 RCV002223181 RCV003162437

NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln)

SNV
Germline

Chr11:2775985

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA006001

rs_199472794

6 SubmittersRCV000057605 RCV000182207 RCV000584804 RCV000619224 RCV000556413 RCV001841672

NM_000218.3(KCNQ1):c.1663C>A (p.Arg555Ser)

SNV
Germline

Chr11:2776032

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiac arrhythmia
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006138

rs_120074185

7 SubmittersRCV000057612 RCV000479287 RCV001226497 RCV003591657 RCV004786336

NM_000218.3(KCNQ1):c.1669A>G (p.Lys557Glu)

SNV
Germline

Chr11:2776038

Pathogenic

Congenital long QT syndrome
Cardiovascular phenotype
Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006153

rs_199472801

4 SubmittersRCV000057615 RCV000249066 RCV000489493 RCV001380059

NM_000218.3(KCNQ1):c.1685G>T (p.Arg562Met)

SNV
Germline

Chr11:2776054

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA006176

rs_199472802

3 SubmittersRCV000057616 RCV002513747

NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His)

SNV
Germline

Chr11:2777991

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiac arrhythmia
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006304

rs_199473482

11 SubmittersRCV000057629 RCV000182220 RCV000557272 RCV001841675 RCV002054904 RCV003298107

NM_000218.3(KCNQ1):c.1799C>T (p.Thr600Met)

SNV
Germline

Chr11:2847771

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype
Condition: not provided
Cardiac arrhythmia
KCNQ1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA006439

rs_34516117

8 SubmittersRCV000057641 RCV000148552 RCV000242195 RCV000859076 RCV001841677 RCV004542725 RCV004700359

NM_000218.3(KCNQ1):c.1831G>T (p.Asp611Tyr)

SNV
Germline

Chr11:2847803

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA006483

rs_147445322

3 SubmittersRCV000057644 RCV002513748

NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser)

SNV
Germline

Chr11:2847833

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Long QT syndrome 1
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006526

rs_199472820

8 SubmittersRCV000057646 RCV000471820 RCV000484989 RCV000763730 RCV001841679 RCV003372614

NM_000218.3(KCNQ1):c.401T>C (p.Leu134Pro)

SNV
Germline

Chr11:2527942

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006992

rs_199472685

5 SubmittersRCV000057669 RCV000182326 RCV001067053 RCV006342099

NM_000218.3(KCNQ1):c.421G>A (p.Val141Met)

SNV
Germline

Chr11:2527962

Pathogenic

Atrial fibrillation
Short QT syndrome type 2
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
KCNQ1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA007045

rs_199472687

9 SubmittersRCV000057674 RCV000417071 RCV000468931 RCV000494365 RCV000621525 RCV005250009

NM_000218.3(KCNQ1):c.430A>G (p.Thr144Ala)

SNV
Germline

Chr11:2527971

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007072

rs_199473451

4 SubmittersRCV000057675 RCV000463475 RCV000489920 RCV000618499

NM_000218.3(KCNQ1):c.550T>C (p.Tyr184His)

SNV
Germline

Chr11:2570700

Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA007405

rs_199473661

4 SubmittersRCV000057697 RCV000182297 RCV001349041 RCV006547577

NM_000218.3(KCNQ1):c.556G>A (p.Gly186Ser)

SNV
Germline

Chr11:2570706

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome 1
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007432

rs_199473398

3 SubmittersRCV000057699 RCV000779057 RCV003996517

NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu)

SNV
Germline

Chr11:2570719

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome 1
Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA007551

rs_120074178

11 SubmittersRCV000057707 RCV000182299 RCV000678947 RCV000698459 RCV001841685 RCV002345367

NM_000218.3(KCNQ1):c.575G>A (p.Arg192His)

SNV
Germline

Chr11:2570725

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Long QT syndrome 1
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007593

rs_199472698

9 SubmittersRCV000057709 RCV000182300 RCV000530014 RCV001253678 RCV001841686 RCV003162438

NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp)

SNV
Germline

Chr11:2570733

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Cardiac arrhythmia
Long QT syndrome 1
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Cardiovascular phenotype
not specified
Atrial fibrillation

Criteria Provided
Conflicting Classifications

CA007637

rs_150172393

9 SubmittersRCV000057713 RCV000148554 RCV001841687 RCV002483094 RCV003162439 RCV003993784 RCV004772836

NM_000218.3(KCNQ1):c.595T>G (p.Ser199Ala)

SNV
Germline

Chr11:2570745

Pathogenic

Congenital long QT syndrome
Long QT syndrome 1

Criteria Provided
Single Submitter

CA007685

rs_199472701

2 SubmittersRCV000057716 RCV003227632

NM_000218.3(KCNQ1):c.608T>C (p.Leu203Pro)

SNV
Germline

Chr11:2571328

Pathogenic

Congenital long QT syndrome
Long QT syndrome 1

Criteria Provided
Single Submitter

CA007745

rs_199472823

2 SubmittersRCV000057720 RCV003330079

NM_000218.3(KCNQ1):c.625T>C (p.Ser209Pro)

SNV
Germline

Chr11:2571345

Pathogenic

Atrial fibrillation
Atrial fibrillation, familial, 3
Long QT syndrome

Criteria Provided
Single Submitter

CA007795

rs_199472705

3 SubmittersRCV000057725 RCV000115006 RCV000232681

NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met)

SNV
Germline

Chr11:2571391

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Cardiac arrhythmia
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA007860

rs_199472706

9 SubmittersRCV000057729 RCV000754820 RCV001841689 RCV001843472 RCV004018998

NM_000218.3(KCNQ1):c.677C>T (p.Ala226Val)

SNV
Germline

Chr11:2571397

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007880

rs_199472707

5 SubmittersRCV000057731 RCV000521709 RCV000821599 RCV002362691

NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr)

SNV
Germline

Chr11:2572053

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007996

rs_199472712

4 SubmittersRCV000057739 RCV000182104 RCV000476524

NM_000218.3(KCNQ1):c.727C>A (p.Arg243Ser)

SNV
Germline

Chr11:2572056

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA008003

rs_199472713

3 SubmittersRCV000057740 RCV000631706 RCV005255562

NM_000218.3(KCNQ1):c.742T>C (p.Trp248Arg)

SNV
Germline

Chr11:2572071

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008035

rs_199473459

3 SubmittersRCV000057744 RCV000182105 RCV000631660

NM_000218.3(KCNQ1):c.773A>C (p.His258Pro)

SNV
Germline

Chr11:2572102

Pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008159

rs_199472718

3 SubmittersRCV000057753 RCV001545914 RCV001854184

NM_000218.3(KCNQ1):c.781G>C (p.Glu261Gln)

SNV
Germline

Chr11:2572846

Likely pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA008221

rs_199472722

2 SubmittersRCV000057759 RCV000493609

NM_000218.3(KCNQ1):c.803T>G (p.Ile268Ser)

SNV
Germline

Chr11:2572868

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA008270

rs_199472725

4 SubmittersRCV000057764 RCV000182117 RCV000466406 RCV004018999

NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)

SNV
Germline

Chr11:2572885

Conflicting classifications of pathogenicity

Congenital long QT syndrome
SUDDEN INFANT DEATH SYNDROME
Condition: not provided
not specified
Long QT syndrome
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA008353

rs_199472728

11 SubmittersRCV000057771 RCV000148546 RCV000182121 RCV000219577 RCV001080930 RCV001108024 RCV001108025 RCV001102797 RCV001108026 RCV001841690 RCV002426616

NM_000218.3(KCNQ1):c.842A>G (p.Tyr281Cys)

SNV
Germline

Chr11:2572907

Likely pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA008464

rs_199472732

2 SubmittersRCV000057778 RCV005644504

NM_000218.3(KCNQ1):c.845T>C (p.Leu282Pro)

SNV
Germline

Chr11:2572910

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA008471

rs_199472733

3 SubmittersRCV000057779 RCV001854185 RCV004019000

NM_000218.3(KCNQ1):c.848C>G (p.Ala283Gly)

SNV
Germline

Chr11:2572913

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA008478

rs_199473463

3 SubmittersRCV000057780 RCV000520786 RCV003531950

NM_000218.3(KCNQ1):c.850G>A (p.Glu284Lys)

SNV
Germline

Chr11:2572915

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA008486

rs_199472734

4 SubmittersRCV000057781 RCV000182125 RCV000204994 RCV002444516

NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys)

SNV
Germline

Chr11:2572942

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 1
Atrial fibrillation, familial, 3
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA008527

rs_199472737

13 SubmittersRCV000057785 RCV000148555 RCV000182127 RCV000621242 RCV000678913 RCV001331076 RCV001841692

NM_000218.3(KCNQ1):c.878G>A (p.Arg293His)

SNV
Germline

Chr11:2572943

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Long QT syndrome 1
Cardiac arrhythmia
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA008532

rs_199473465

7 SubmittersRCV000057786 RCV000182309 RCV001258359 RCV001841693 RCV002513751 RCV004019001

NM_000218.3(KCNQ1):c.887T>C (p.Phe296Ser)

SNV
Germline

Chr11:2572952

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA008541

rs_199472738

3 SubmittersRCV000057787 RCV001044347

NM_000218.3(KCNQ1):c.905C>A (p.Ala302Glu)

SNV
Germline

Chr11:2572970

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA008583

rs_193922365

7 SubmittersRCV000057791 RCV000182129 RCV000689954 RCV002371901 RCV005402840

NM_000218.3(KCNQ1):c.908T>C (p.Leu303Pro)

SNV
Germline

Chr11:2572973

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA008593

rs_199472740

2 SubmittersRCV000057793 RCV002513752

NM_000218.3(KCNQ1):c.916G>C (p.Gly306Arg)

SNV
Germline

Chr11:2572981

Pathogenic

Congenital long QT syndrome
Long QT syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA008640

rs_120074181

3 SubmittersRCV000057798 RCV003159095 RCV003317071

NM_000218.3(KCNQ1):c.950A>G (p.Asp317Gly)

SNV
Germline

Chr11:2583463

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA008884

rs_199472750

3 SubmittersRCV000057824 RCV001206137 RCV001507785

NM_000238.4(KCNH2):c.1001C>T (p.Pro334Leu)

SNV
Germline

Chr7:150957418

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA004159

rs_199472888

3 SubmittersRCV000057868 RCV000181776 RCV001055822

NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)

SNV
Germline

Chr7:150957380

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Cardiovascular phenotype
Long QT syndrome 2
Cardiac arrhythmia
KCNH2-related disorder

Criteria Provided
Conflicting Classifications

CA004184

rs_138776684

20 SubmittersRCV000057870 RCV000148527 RCV000181777 RCV000619112 RCV000678963 RCV001841694 RCV004549481

NM_000238.4(KCNH2):c.1205A>G (p.His402Arg)

SNV
Germline

Chr7:150952777

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA004277

rs_199473506

3 SubmittersRCV000057873 RCV000535219 RCV002460903

NM_000238.4(KCNH2):c.1262C>T (p.Thr421Met)

SNV
Germline

Chr7:150952720

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
not specified
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA004350

rs_199472894

6 SubmittersRCV000057880 RCV000181785 RCV000527961 RCV004782038 RCV005401317

NM_000238.4(KCNH2):c.1264G>A (p.Ala422Thr)

SNV
Germline

Chr7:150952718

Pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA004358

rs_199472895

3 SubmittersRCV000057881 RCV000181786 RCV003531951

NM_000238.4(KCNH2):c.127T>G (p.Tyr43Asp)

SNV
Germline

Chr7:150974891

Pathogenic

Congenital long QT syndrome
Short QT syndrome type 1

Criteria Provided
Single Submitter

CA004378

rs_199472837

2 SubmittersRCV000057884 RCV002247455

NM_000238.4(KCNH2):c.1280A>C (p.Tyr427Ser)

SNV
Germline

Chr7:150952702

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA004385

rs_199472897

4 SubmittersRCV000057885 RCV000246613 RCV001854188

NM_000238.4(KCNH2):c.1280A>G (p.Tyr427Cys)

SNV
Germline

Chr7:150952702

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome 1
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA004393

rs_199472897

4 SubmittersRCV000057886 RCV000584803 RCV005089474 RCV005403747

NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu)

SNV
Germline

Chr7:150952699

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
not specified
Cardiac arrhythmia
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA004407

rs_199472899

7 SubmittersRCV000057887 RCV001588889 RCV001854189 RCV003993785 RCV005402841 RCV005862964

NM_000238.4(KCNH2):c.128A>G (p.Tyr43Cys)

SNV
Germline

Chr7:150974890

Pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Long QT syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA004427

rs_199472836

4 SubmittersRCV000057889 RCV000181926 RCV000823889 RCV006249580

NM_000238.4(KCNH2):c.1293C>A (p.Phe431Leu)

SNV
Germline

Chr7:150952689

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA004434

rs_199472900

4 SubmittersRCV000057890 RCV000481749 RCV001854190 RCV002381372

NM_000238.4(KCNH2):c.1352C>T (p.Pro451Leu)

SNV
Germline

Chr7:150952630

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome 2
Long QT syndrome
Cardiac arrhythmia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA004511

rs_199472902

7 SubmittersRCV000057897 RCV000208345 RCV001324448 RCV001841698 RCV004808571

NM_000238.4(KCNH2):c.140G>T (p.Gly47Val)

SNV
Germline

Chr7:150974878

Pathogenic

Congenital long QT syndrome
Short QT syndrome type 1

Criteria Provided
Single Submitter

CA004581

rs_199473490

2 SubmittersRCV000057903 RCV002247456

NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn)

SNV
Germline

Chr7:150952564

Conflicting classifications of pathogenicity

Condition: not provided
Congenital long QT syndrome

Criteria Provided
Conflicting Classifications

CA004603

rs_199472905

3 SubmittersRCV003137596 RCV000057905

NM_000238.4(KCNH2):c.1421C>T (p.Thr474Ile)

SNV
Germline

Chr7:150952561

Pathogenic/Likely pathogenic

Condition: not provided
Congenital long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA004610

rs_199472906

3 SubmittersRCV000182021 RCV000057906 RCV002390207

NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr)

SNV
Germline

Chr7:150952508

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome 2
Cardiac arrhythmia
Long QT syndrome
Short QT syndrome type 1
Short QT syndrome type 1
Long QT syndrome 2
Cardiovascular phenotype
KCNH2-related disorder

Criteria Provided
Conflicting Classifications

CA004679

rs_199472910

9 SubmittersRCV000057913 RCV000778143 RCV001841700 RCV001854192 RCV002250552 RCV002504961 RCV003343626 RCV004549482

NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys)

SNV
Germline

Chr7:150952504

Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA004695

rs_199472911

3 SubmittersRCV000057915 RCV000412722 RCV001207034

NM_000238.4(KCNH2):c.1501G>A (p.Asp501Asn)

SNV
Germline

Chr7:150952481

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA004728

rs_199472912

4 SubmittersRCV000057917 RCV000181794 RCV000467289 RCV000618688

NM_000238.4(KCNH2):c.1502A>G (p.Asp501Gly)

SNV
Germline

Chr7:150952480

Pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA004741

rs_199473513

2 SubmittersRCV000057919 RCV000181795

NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg)

SNV
Germline

Chr7:150974861

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA004831

rs_199472842

6 SubmittersRCV000057924 RCV001267970 RCV001841702 RCV002399419

NM_000238.4(KCNH2):c.158G>A (p.Gly53Asp)

SNV
Germline

Chr7:150974860

Pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA004864

rs_199473491

2 SubmittersRCV000057926 RCV003326345

NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp)

SNV
Germline

Chr7:150951802

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
not specified
Condition: not provided
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA004871

rs_199472915

8 SubmittersRCV000057927 RCV000698598 RCV001269138 RCV001664237 RCV002470743

NM_000238.4(KCNH2):c.1592G>A (p.Arg531Gln)

SNV
Germline

Chr7:150951801

Likely pathogenic

Congenital long QT syndrome
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA004878

rs_199473515

2 SubmittersRCV000057928 RCV004992004

NM_000238.4(KCNH2):c.1600C>T (p.Arg534Cys)

SNV
Germline

Chr7:150951793

Pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA004904

rs_199472916

4 SubmittersRCV000057929 RCV000181800 RCV000470519 RCV002399420

NM_000238.4(KCNH2):c.160T>C (p.Tyr54His)

SNV
Germline

Chr7:150974858

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Long QT syndrome 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA004937

rs_199472843

4 SubmittersRCV000057932 RCV001854195 RCV005054154 RCV005364952

NM_000238.4(KCNH2):c.164C>T (p.Ser55Leu)

SNV
Germline

Chr7:150974854

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA004951

rs_199472844

5 SubmittersRCV000057933 RCV000182049 RCV001320245 RCV002399421 RCV005862965

NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser)

SNV
Germline

Chr7:150951738

Pathogenic

Congenital long QT syndrome
Long QT syndrome 2
Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA004960

rs_199472918

11 SubmittersRCV000057934 RCV000208055 RCV000223726 RCV000248595 RCV000543570 RCV003591658

NM_000238.4(KCNH2):c.1673C>A (p.Ala558Glu)

SNV
Germline

Chr7:150951720

Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA004976

rs_199472919

3 SubmittersRCV000057936 RCV001703966 RCV001854196

NM_000238.4(KCNH2):c.167G>A (p.Arg56Gln)

SNV
Germline

Chr7:150974851

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA005006

rs_199472845

2 SubmittersRCV000057938 RCV000462413

NM_000238.4(KCNH2):c.1681G>A (p.Ala561Thr)

SNV
Germline

Chr7:150951712

Pathogenic

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005019

rs_199472921

5 SubmittersRCV000057939 RCV000181805 RCV000619406 RCV001390277

NM_000238.4(KCNH2):c.1681G>C (p.Ala561Pro)

SNV
Germline

Chr7:150951712

Pathogenic

Congenital long QT syndrome
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA005027

rs_199472921

2 SubmittersRCV000057940 RCV000244156

NM_000238.4(KCNH2):c.1685A>C (p.His562Pro)

SNV
Germline

Chr7:150951708

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA005058

rs_199472922

3 SubmittersRCV000057942 RCV002513753 RCV004719688

NM_000238.4(KCNH2):c.1685A>G (p.His562Arg)

SNV
Germline

Chr7:150951708

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 2
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA005065

rs_199472922

6 SubmittersRCV000057943 RCV000544355 RCV002399422 RCV002468562 RCV005402842

NM_000238.4(KCNH2):c.1704G>C (p.Trp568Cys)

SNV
Germline

Chr7:150951689

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA005198

rs_199472926

2 SubmittersRCV000057954 RCV000689953

NM_000238.4(KCNH2):c.1705T>C (p.Tyr569His)

SNV
Germline

Chr7:150951688

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA005214

rs_199473520

2 SubmittersRCV000057956 RCV006461344

NM_000238.4(KCNH2):c.1711A>G (p.Ile571Val)

SNV
Germline

Chr7:150951682

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005235

rs_199472928

4 SubmittersRCV000057958 RCV000436135 RCV000556890 RCV004017367

NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser)

SNV
Germline

Chr7:150951679

Pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Long QT syndrome 2
Cardiovascular phenotype
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA005241

rs_9333649

10 SubmittersRCV000057959 RCV000181811 RCV000631548 RCV000678923 RCV000619615 RCV004813051

NM_000238.4(KCNH2):c.1715G>T (p.Gly572Val)

SNV
Germline

Chr7:150951678

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005271

rs_199473423

3 SubmittersRCV000057963 RCV000181812 RCV003531953

NM_000238.4(KCNH2):c.172G>A (p.Glu58Lys)

SNV
Germline

Chr7:150974846

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005294

rs_199473413

5 SubmittersRCV000057966 RCV000472868 RCV001582554 RCV005403748

NM_000238.4(KCNH2):c.173A>G (p.Glu58Gly)

SNV
Germline

Chr7:150974845

Likely pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA005331

rs_199472847

2 SubmittersRCV000057969 RCV000181920

NM_000238.4(KCNH2):c.1745G>T (p.Arg582Leu)

SNV
Germline

Chr7:150951648

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA005353

rs_199473426

2 SubmittersRCV000057971 RCV001377677

NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)

SNV
Germline

Chr7:150951643

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome 2
Long QT syndrome
Long QT syndrome 2
Short QT syndrome type 1
Cardiovascular phenotype
Cardiac arrhythmia
Short QT syndrome type 1
KCNH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA005371

rs_199473428

14 SubmittersRCV000057974 RCV000181816 RCV000157264 RCV000470290 RCV000477917 RCV000618627 RCV001841704 RCV004562234 RCV005250010

NM_000238.4(KCNH2):c.1750G>T (p.Gly584Cys)

SNV
Germline

Chr7:150951643

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA005388

rs_199473428

3 SubmittersRCV000057976 RCV000181817 RCV000820068

NM_000238.4(KCNH2):c.1762A>G (p.Asn588Asp)

SNV
Germline

Chr7:150951631

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA005415

rs_199473431

3 SubmittersRCV000057979 RCV001854197 RCV002280098

NM_000238.4(KCNH2):c.1777A>G (p.Ile593Val)

SNV
Germline

Chr7:150951616

Likely pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA005440

rs_199472930

2 SubmittersRCV000057983 RCV005411318

NM_000238.4(KCNH2):c.1778T>A (p.Ile593Lys)

SNV
Germline

Chr7:150951615

Pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA005445

rs_28928904

2 SubmittersRCV000057984 RCV000557658

NM_000238.4(KCNH2):c.1778T>C (p.Ile593Thr)

SNV
Germline

Chr7:150951615

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA005452

rs_28928904

4 SubmittersRCV000057985 RCV000181818 RCV004019003 RCV005089475

NM_000238.4(KCNH2):c.1781G>A (p.Gly594Asp)

SNV
Germline

Chr7:150951612

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005466

rs_199472931

3 SubmittersRCV000057987 RCV001205698 RCV003162441

NM_000238.4(KCNH2):c.1787C>A (p.Pro596His)

SNV
Germline

Chr7:150951606

Pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA005488

rs_199472933

2 SubmittersRCV000057990 RCV000181819

NM_000238.4(KCNH2):c.1790A>G (p.Tyr597Cys)

SNV
Germline

Chr7:150951603

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA005509

rs_199472934

3 SubmittersRCV000057993 RCV000168208 RCV000414552

NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser)

SNV
Germline

Chr7:150951592

Pathogenic

Congenital long QT syndrome
Long QT syndrome 2
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005525

rs_199472936

4 SubmittersRCV000057995 RCV000208241 RCV000233419 RCV000619597

NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser)

SNV
Germline

Chr7:150951583

Pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005546

rs_199473522

6 SubmittersRCV000057997 RCV000181821 RCV000205578 RCV002408563

NM_000238.4(KCNH2):c.1813C>T (p.Pro605Ser)

SNV
Germline

Chr7:150951580

Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005568

rs_199472939

3 SubmittersRCV000057999 RCV003480050 RCV003531955

NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu)

SNV
Germline

Chr7:150951579

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Long QT syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA005574

rs_199472938

4 SubmittersRCV000058000 RCV000631723 RCV000735254

NM_000238.4(KCNH2):c.1825G>A (p.Asp609Asn)

SNV
Germline

Chr7:150951568

Pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005592

rs_199472941

3 SubmittersRCV000058002 RCV000413200 RCV000526585

NM_000238.4(KCNH2):c.1826A>G (p.Asp609Gly)

SNV
Germline

Chr7:150951567

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005614

rs_199472940

3 SubmittersRCV000058005 RCV001211004 RCV002408564

NM_000238.4(KCNH2):c.1831T>G (p.Tyr611Asp)

SNV
Germline

Chr7:150951562

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome

No Assertion Criteria Provided

CA005628

rs_199472942

2 SubmittersRCV000058007 RCV000190215

NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)

SNV
Germline

Chr7:150951555

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Cardiovascular phenotype
Condition: not provided
Long QT syndrome
Short QT syndrome type 1
Long QT syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA005647

rs_199473524

10 SubmittersRCV000058009 RCV000244892 RCV000223761 RCV000527495 RCV001196417 RCV001258357

NM_000238.4(KCNH2):c.1843C>G (p.Leu615Val)

SNV
Germline

Chr7:150951550

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome 2

Criteria Provided
Single Submitter

CA005660

rs_199472945

2 SubmittersRCV000058011 RCV002470744

NM_000238.4(KCNH2):c.1843C>T (p.Leu615Phe)

SNV
Germline

Chr7:150951550

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA005667

rs_199472945

3 SubmittersRCV000058012 RCV001577623 RCV001854199

NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys)

SNV
Germline

Chr7:150951546

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA005674

rs_199472946

3 SubmittersRCV000058013 RCV000157265 RCV000182032

NM_000238.4(KCNH2):c.1853C>T (p.Thr618Ile)

SNV
Germline

Chr7:150951540

Pathogenic

Short QT syndrome
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005690

rs_199472947

3 SubmittersRCV000058015 RCV001376739 RCV002408565

NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn)

SNV
Germline

Chr7:150951531

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Primary familial hypertrophic cardiomyopathy
Long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA005703

rs_199472948

4 SubmittersRCV000058017 RCV000845307 RCV001208803 RCV001781395

NM_000238.4(KCNH2):c.1868C>T (p.Thr623Ile)

SNV
Germline

Chr7:150951525

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Long QT syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA005728

rs_199472950

3 SubmittersRCV000058020 RCV003531956 RCV006249581

NM_000238.4(KCNH2):c.1876G>A (p.Gly626Ser)

SNV
Germline

Chr7:150951517

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA005743

rs_199472953

3 SubmittersRCV000058022 RCV000240640 RCV001545650

NM_000238.4(KCNH2):c.1879T>C (p.Phe627Leu)

SNV
Germline

Chr7:150951514

Pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA005780

rs_199472954

2 SubmittersRCV000058027 RCV002513755

NM_000238.4(KCNH2):c.1881C>G (p.Phe627Leu)

SNV
Germline

Chr7:150951512

Pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA005797

rs_199473039

2 SubmittersRCV000058028 RCV005089476

NM_000238.4(KCNH2):c.1885A>G (p.Asn629Asp)

SNV
Germline

Chr7:150951508

Pathogenic

Condition: not provided
Congenital long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005840

rs_199472956

3 SubmittersRCV000181822 RCV000058032 RCV005403749

NM_000238.4(KCNH2):c.1886A>C (p.Asn629Thr)

SNV
Germline

Chr7:150951507

Pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005846

rs_199472957

3 SubmittersRCV000058033 RCV000413164 RCV000475088

NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser)

SNV
Germline

Chr7:150951507

Pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome 2
Short QT syndrome type 1
Long QT syndrome 2
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005852

rs_199472957

7 SubmittersRCV000058034 RCV000181823 RCV000678941 RCV000763171 RCV000781486

NM_000238.4(KCNH2):c.1887C>A (p.Asn629Lys)

SNV
Germline

Chr7:150951506

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA005864

rs_41307295

2 SubmittersRCV000058036 RCV001854201

NM_000238.4(KCNH2):c.1888G>C (p.Val630Leu)

SNV
Germline

Chr7:150951505

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome 2
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA005870

rs_199472958

3 SubmittersRCV000058037 RCV002470745 RCV002513757

NM_000238.4(KCNH2):c.1894C>T (p.Pro632Ser)

SNV
Germline

Chr7:150951499

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005893

rs_199473527

4 SubmittersRCV000058040 RCV000181824 RCV000621397

NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser)

SNV
Germline

Chr7:150951495

Pathogenic

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 2
Long QT syndrome
KCNH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA005905

rs_199472961

7 SubmittersRCV000058042 RCV000181825 RCV000617489 RCV000678919 RCV000799027 RCV004549483

NM_000238.4(KCNH2):c.1904A>T (p.Asn635Ile)

SNV
Germline

Chr7:150951489

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005941

rs_199472964

3 SubmittersRCV000058046 RCV001207618 RCV002408566

NM_000238.4(KCNH2):c.1909G>A (p.Glu637Lys)

SNV
Germline

Chr7:150951484

Pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA005952

rs_199472968

2 SubmittersRCV000058048 RCV000691309

NM_000238.4(KCNH2):c.1911G>C (p.Glu637Asp)

SNV
Germline

Chr7:150951482

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA005970

rs_199472966

3 SubmittersRCV000058050 RCV002408567 RCV002513758

NM_000238.4(KCNH2):c.1912A>G (p.Lys638Glu)

SNV
Germline

Chr7:150951481

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA005976

rs_199473528

3 SubmittersRCV000058051 RCV001854202 RCV005865227

NM_000238.4(KCNH2):c.1920C>A (p.Phe640Leu)

SNV
Germline

Chr7:150951473

Pathogenic

Congenital long QT syndrome
Long QT syndrome 2

Criteria Provided
Single Submitter

CA006030

rs_199472970

2 SubmittersRCV000058055 RCV000234804

NM_000238.4(KCNH2):c.1922C>T (p.Ser641Phe)

SNV
Germline

Chr7:150951471

Pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA006035

rs_199472971

2 SubmittersRCV000058056 RCV000803218

NM_000238.4(KCNH2):c.1933A>G (p.Met645Val)

SNV
Germline

Chr7:150951460

Pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA006050

rs_199472974

2 SubmittersRCV000058060 RCV000181830

NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser)

SNV
Germline

Chr7:150951097

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA006114

rs_199472978

5 SubmittersRCV000058068 RCV000205745 RCV003162442 RCV004719689

NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu)

SNV
Germline

Chr7:150951087

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 2
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA006139

rs_199472979

9 SubmittersRCV000058072 RCV000181833 RCV000468503 RCV000621327 RCV000851290 RCV005402843

NM_000238.4(KCNH2):c.202T>C (p.Phe68Leu)

SNV
Germline

Chr7:150974816

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006163

rs_199473417

3 SubmittersRCV000058075 RCV000181933 RCV004019004

NM_000238.4(KCNH2):c.206T>C (p.Leu69Pro)

SNV
Germline

Chr7:150974812

Pathogenic

Congenital long QT syndrome
Long QT syndrome 2

Criteria Provided
Single Submitter

CA006187

rs_199473665

2 SubmittersRCV000058078 RCV002470746

NM_000238.4(KCNH2):c.2078T>C (p.Leu693Pro)

SNV
Germline

Chr7:150950988

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA006194

rs_199472983

5 SubmittersRCV000058079 RCV000181836 RCV000546253 RCV000624294

NM_000238.4(KCNH2):c.209A>G (p.His70Arg)

SNV
Germline

Chr7:150974809

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA006229

rs_199473419

5 SubmittersRCV000058083 RCV000181934 RCV000460303 RCV002415513

NM_000238.4(KCNH2):c.211G>C (p.Gly71Arg)

SNV
Germline

Chr7:150974807

Pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006261

rs_199473420

3 SubmittersRCV000058086 RCV000181935 RCV001194446

NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln)

SNV
Germline

Chr7:150974803

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype
Condition: not provided
Long QT syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA006293

rs_199473421

8 SubmittersRCV000058088 RCV000463612 RCV000588659 RCV000786141 RCV001258077

NM_000238.4(KCNH2):c.215C>G (p.Pro72Arg)

SNV
Germline

Chr7:150974803

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA006299

rs_199473421

2 SubmittersRCV000058089 RCV000464288

NM_000238.4(KCNH2):c.215C>T (p.Pro72Leu)

SNV
Germline

Chr7:150974803

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006305

rs_199473421

4 SubmittersRCV000058090 RCV000181938 RCV002415514 RCV002513759

NM_000238.4(KCNH2):c.2162C>T (p.Pro721Leu)

SNV
Germline

Chr7:150950404

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006311

rs_199472986

3 SubmittersRCV000058091 RCV000458802

NM_000238.4(KCNH2):c.221C>G (p.Thr74Arg)

SNV
Germline

Chr7:150974797

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA006358

rs_199473422

3 SubmittersRCV000058096 RCV000182051 RCV001060143

NM_000238.4(KCNH2):c.221C>T (p.Thr74Met)

SNV
Germline

Chr7:150974797

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Short QT syndrome type 1

Criteria Provided
Conflicting Classifications

CA006365

rs_199473422

4 SubmittersRCV000058097 RCV000807020 RCV002247457

NM_000238.4(KCNH2):c.2246G>T (p.Gly749Val)

SNV
Germline

Chr7:150950320

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA006377

rs_199472989

3 SubmittersRCV000058098 RCV000181844 RCV000454509

NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp)

SNV
Germline

Chr7:150950312

Pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia
Long QT syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA006383

rs_199472990

11 SubmittersRCV000058099 RCV000181845 RCV000631584 RCV000621587 RCV001841706 RCV005623066

NM_000238.4(KCNH2):c.2266A>G (p.Met756Val)

SNV
Germline

Chr7:150950300

Conflicting classifications of pathogenicity

Acquired long QT syndrome
Long QT syndrome 2
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA006412

rs_199473534

5 SubmittersRCV000058102 RCV001031014 RCV002514287

NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr)

SNV
Germline

Chr7:150950246

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome 2
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006441

rs_199472995

5 SubmittersRCV000058106 RCV000182045 RCV000208316 RCV003531958

NM_000238.4(KCNH2):c.2354G>T (p.Gly785Val)

SNV
Germline

Chr7:150950212

Pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA006478

rs_199472996

2 SubmittersRCV000058110 RCV004696676

NM_000238.4(KCNH2):c.2362G>A (p.Glu788Lys)

SNV
Germline

Chr7:150950204

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA006501

rs_199472997

3 SubmittersRCV000058111 RCV000230704

NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp)

SNV
Germline

Chr7:150950195

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype
Condition: not provided
Long QT syndrome 2
Cardiac arrhythmia
Brugada syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA006525

rs_138498207

13 SubmittersRCV000058113 RCV000148535 RCV000618893 RCV000586962 RCV001162548 RCV001841708 RCV001778698 RCV002228167

NM_000238.4(KCNH2):c.2414T>C (p.Phe805Ser)

SNV
Germline

Chr7:150949034

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006704

rs_199472999

3 SubmittersRCV000058118 RCV000182046 RCV006461346

NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys)

SNV
Germline

Chr7:150949034

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 2
Short QT syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006712

rs_199472999

5 SubmittersRCV000058119 RCV000181862 RCV000474113 RCV000621445 RCV005042177

NM_000238.4(KCNH2):c.2417G>A (p.Gly806Glu)

SNV
Germline

Chr7:150949031

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006718

rs_199473000

4 SubmittersRCV000058120 RCV000181863 RCV001362440 RCV003162443

NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp)

SNV
Germline

Chr7:150948981

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA006812

rs_199473538

7 SubmittersRCV000058126 RCV000234770 RCV000618449 RCV000786142

NM_000238.4(KCNH2):c.2477C>T (p.Thr826Ile)

SNV
Germline

Chr7:150948971

Pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA006823

rs_199473002

2 SubmittersRCV000058127 RCV000181868

NM_000238.4(KCNH2):c.2509G>A (p.Asp837Asn)

SNV
Germline

Chr7:150948939

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome 2
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006870

rs_199473005

3 SubmittersRCV000058129 RCV000240628 RCV000631627

NM_000238.4(KCNH2):c.2509G>T (p.Asp837Tyr)

SNV
Germline

Chr7:150948939

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA006879

rs_199473005

3 SubmittersRCV000058130 RCV002272049 RCV006461347

NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly)

SNV
Germline

Chr7:150948938

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Long QT syndrome 2
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA006888

rs_199473004

10 SubmittersRCV000058131 RCV000181873 RCV000469039 RCV000677334 RCV001841710 RCV002433554

NM_000238.4(KCNH2):c.2536C>T (p.Pro846Ser)

SNV
Germline

Chr7:150948912

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
KCNH2-related disorder
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA006916

rs_199473006

6 SubmittersRCV000058133 RCV000181874 RCV000464496 RCV005364953 RCV004549484 RCV006547580

NM_000238.4(KCNH2):c.254C>T (p.Ala85Val)

SNV
Germline

Chr7:150974764

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA006934

rs_199473494

3 SubmittersRCV000058135 RCV003162444 RCV005089479

NM_000238.4(KCNH2):c.257T>G (p.Leu86Arg)

SNV
Germline

Chr7:150974761

Pathogenic

Congenital long QT syndrome
Short QT syndrome type 1

Criteria Provided
Single Submitter

CA006969

rs_199472851

2 SubmittersRCV000058138 RCV002247458

NM_000238.4(KCNH2):c.260T>C (p.Leu87Pro)

SNV
Germline

Chr7:150974758

Likely pathogenic

Congenital long QT syndrome
Condition: not provided

No Assertion Criteria Provided

CA007042

rs_199473495

3 SubmittersRCV000058143 RCV001701488

NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys)

SNV
Germline

Chr7:150948483

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
not specified
Cardiac arrhythmia
Long QT syndrome 2
Short QT syndrome type 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007076

rs_143512106

10 SubmittersRCV000058147 RCV000148524 RCV000780364 RCV001841713 RCV002477188 RCV002453373 RCV003884345

NM_000238.4(KCNH2):c.2660G>A (p.Arg887His)

SNV
Germline

Chr7:150948476

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Long QT syndrome 2
Condition: not provided
not specified
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007095

rs_199473432

9 SubmittersRCV000058148 RCV000148534 RCV000210414 RCV000438782 RCV001193784 RCV001841714 RCV002426617

NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met)

SNV
Germline

Chr7:150948452

Conflicting classifications of pathogenicity

SUDDEN INFANT DEATH SYNDROME
Long QT syndrome
Long QT syndrome 2
Long QT syndrome 1
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007147

rs_199473434

10 SubmittersRCV000058151 RCV000699702 RCV000988000 RCV001256913 RCV001588890 RCV001841715 RCV004019008

NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg)

SNV
Germline

Chr7:150947864

Conflicting classifications of pathogenicity

Congenital long QT syndrome
not specified
Long QT syndrome
Cardiovascular phenotype
Condition: not provided
Cardiac arrhythmia
Long QT syndrome 2
Short QT syndrome type 1

Criteria Provided
Conflicting Classifications

CA007192

rs_199473669

12 SubmittersRCV000058153 RCV000181883 RCV000465531 RCV000621231 RCV000767043 RCV001841717 RCV002498335

NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)

SNV
Germline

Chr7:150947854

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Long QT syndrome 2
Short QT syndrome type 1
Condition: not provided
Cardiac arrhythmia
Long QT syndrome 2
Cardiovascular phenotype
KCNH2-related disorder

Criteria Provided
Conflicting Classifications

CA007206

rs_199473435

15 SubmittersRCV000058154 RCV000203863 RCV000765943 RCV001699029 RCV001841718 RCV002470748 RCV003298110 RCV004739329

NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu)

SNV
Germline

Chr7:150947842

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
not specified
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA007231

rs_199473436

7 SubmittersRCV000058155 RCV000621145 RCV000631580 RCV001731351 RCV001841719

NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu)

SNV
Germline

Chr7:150947821

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Long QT syndrome
Long QT syndrome 2
Cardiac arrhythmia
Cardiovascular phenotype
Long QT syndrome 2
Short QT syndrome type 1

Criteria Provided
Conflicting Classifications

CA007286

rs_76420733

10 SubmittersRCV000058158 RCV000181888 RCV000699321 RCV001160952 RCV001841720 RCV002433555 RCV002504963

NM_000238.4(KCNH2):c.2759G>A (p.Arg920Gln)

SNV
Germline

Chr7:150947812

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Cardiovascular phenotype
Long QT syndrome
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA007319

rs_199473670

6 SubmittersRCV000058160 RCV000618714 RCV001058527 RCV001582555 RCV001841722

NM_000238.4(KCNH2):c.2765G>A (p.Arg922Gln)

SNV
Germline

Chr7:150947806

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Cardiac arrhythmia
Long QT syndrome 2
Short QT syndrome type 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007347

rs_199473439

6 SubmittersRCV000058162 RCV000471859 RCV001841723 RCV002483096 RCV002433556

NM_000238.4(KCNH2):c.2771G>A (p.Gly924Glu)

SNV
Germline

Chr7:150947800

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 2
Cardiac arrhythmia
Long QT syndrome 2
Short QT syndrome type 1

Criteria Provided
Conflicting Classifications

CA007369

rs_199473009

9 SubmittersRCV000058163 RCV000181891 RCV000251484 RCV000817376 RCV000987999 RCV001841724 RCV005042178

NM_000238.4(KCNH2):c.2771G>C (p.Gly924Ala)

SNV
Germline

Chr7:150947800

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
not specified
Cardiovascular phenotype
Short QT syndrome type 1
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA007376

rs_199473009

7 SubmittersRCV000058164 RCV000468983 RCV000454684 RCV000619828 RCV001198823 RCV001841725

NM_000238.4(KCNH2):c.2810G>A (p.Ser937Asn)

SNV
Germline

Chr7:150947761

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiac arrhythmia
Long QT syndrome 2
Short QT syndrome type 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007468

rs_199473540

9 SubmittersRCV000058166 RCV000181897 RCV000631729 RCV001841726 RCV002490644 RCV004019009

NM_000238.4(KCNH2):c.281T>G (p.Val94Gly)

SNV
Germline

Chr7:150974737

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007478

rs_199472852

3 SubmittersRCV000058167 RCV000809130 RCV004791257

NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)

SNV
Germline

Chr7:150947728

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome 2
Long QT syndrome
not specified
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007504

rs_199473011

12 SubmittersRCV000058170 RCV000182047 RCV000578446 RCV000794762 RCV001358716 RCV001841727 RCV004019010

NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val)

SNV
Germline

Chr7:150947708

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
not specified
Long QT syndrome 2
Short QT syndrome type 1
Primary familial dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA007537

rs_199473012

15 SubmittersRCV000058172 RCV000413036 RCV000509284 RCV001841729 RCV003162447 RCV004700361 RCV005364954 RCV006250248

NM_000238.4(KCNH2):c.2887C>A (p.Pro963Thr)

SNV
Germline

Chr7:150947684

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
Long QT syndrome 2
Short QT syndrome type 1
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA007577

rs_199473014

7 SubmittersRCV000058176 RCV000756285 RCV001841730 RCV002433557 RCV002483097 RCV003531960

NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly)

SNV
Germline

Chr7:150947630

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA007666

rs_76649554

10 SubmittersRCV000058181 RCV000621297 RCV001002378 RCV001086448 RCV001841734

NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile)

SNV
Germline

Chr7:150947623

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
not specified
Condition: not provided
Long QT syndrome 2
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007674

rs_149955375

14 SubmittersRCV000058182 RCV000148532 RCV000181901 RCV000724866 RCV001159570 RCV001841735 RCV002433559

NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile)

SNV
Germline

Chr7:150947493

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome 2
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007728

rs_199473018

5 SubmittersRCV000058185 RCV000181903 RCV001248786 RCV006461348

NM_000238.4(KCNH2):c.298C>T (p.Arg100Trp)

SNV
Germline

Chr7:150974720

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA007747

rs_121912515

5 SubmittersRCV000058187 RCV001230350 RCV002433560 RCV006547581

NM_000238.4(KCNH2):c.299G>A (p.Arg100Gln)

SNV
Germline

Chr7:150974719

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007764

rs_199472855

4 SubmittersRCV000058188 RCV000181949 RCV001301364 RCV004019011

NM_000238.4(KCNH2):c.301A>G (p.Lys101Glu)

SNV
Germline

Chr7:150974717

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Short QT syndrome type 1

Criteria Provided
Conflicting Classifications

CA007817

rs_199472856

4 SubmittersRCV000058190 RCV000182053 RCV001364660 RCV002247459

NM_000238.4(KCNH2):c.3095G>A (p.Arg1032Gln)

SNV
Germline

Chr7:150947385

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Long QT syndrome 2
Cardiac arrhythmia
Long QT syndrome 2
Short QT syndrome type 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007902

rs_199473020

8 SubmittersRCV000058194 RCV000703148 RCV000987997 RCV001841739 RCV002490646 RCV004019012

NM_000238.4(KCNH2):c.3097C>T (p.Arg1033Trp)

SNV
Germline

Chr7:150947383

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Long QT syndrome 1
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
Long QT syndrome 2
Short QT syndrome type 1

Criteria Provided
Conflicting Classifications

CA007914

rs_199473021

10 SubmittersRCV000058195 RCV000685270 RCV001256912 RCV001664238 RCV001841740 RCV003298111 RCV002483098

NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp)

SNV
Germline

Chr7:150947373

Conflicting classifications of pathogenicity

Congenital long QT syndrome
not specified
Long QT syndrome
Condition: not provided
Cardiac arrhythmia
Short QT syndrome type 1
Long QT syndrome 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007960

rs_199473022

9 SubmittersRCV000058197 RCV000454975 RCV000795860 RCV001548137 RCV001841742 RCV002477190 RCV004019014

NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met)

SNV
Germline

Chr7:150947368

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome 2
Long QT syndrome
Cardiac arrhythmia
not specified
Cardiovascular phenotype
KCNH2-related disorder

Criteria Provided
Conflicting Classifications

CA007991

rs_199473544

10 SubmittersRCV000058199 RCV000181911 RCV000987996 RCV001088304 RCV001841744 RCV001804794 RCV004019015 RCV004549486

NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe)

SNV
Germline

Chr7:150947347

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Arrhythmogenic right ventricular cardiomyopathy
Primary dilated cardiomyopathy
Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA008015

rs_199473025

7 SubmittersRCV000058201 RCV000143906 RCV000143907 RCV000157268 RCV001841746 RCV002321556 RCV004791258

NM_000238.4(KCNH2):c.3203A>G (p.Gln1068Arg)

SNV
Germline

Chr7:150947004

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA008110

rs_151031345

6 SubmittersRCV000058209 RCV000200795 RCV000620371 RCV001841748

NM_000238.4(KCNH2):c.322T>C (p.Cys108Arg)

SNV
Germline

Chr7:150959722

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA008126

rs_199472859

2 SubmittersRCV000058211 RCV001040354

NM_000238.4(KCNH2):c.3322C>G (p.Leu1108Val)

SNV
Germline

Chr7:150946885

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 2
Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA008187

rs_199473031

6 SubmittersRCV000058217 RCV001164500 RCV001296616 RCV001841751 RCV004019018

NM_000238.4(KCNH2):c.3347C>T (p.Ala1116Val)

SNV
Germline

Chr7:150945498

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Cardiac arrhythmia
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA008234

rs_199473032

6 SubmittersRCV000058220 RCV001257224 RCV001841753 RCV002221485 RCV004019019

NM_000238.4(KCNH2):c.340C>T (p.Pro114Ser)

SNV
Germline

Chr7:150959704

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA008285

rs_199472861

3 SubmittersRCV000058223 RCV003531962 RCV006249582

NM_000238.4(KCNH2):c.371T>G (p.Met124Arg)

SNV
Germline

Chr7:150959673

Pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Single Submitter

CA008369

rs_199472862

2 SubmittersRCV000058230 RCV002514290

NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu)

SNV
Germline

Chr7:150959622

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Cardiovascular phenotype
Long QT syndrome 2
Hypertrophic cardiomyopathy
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA008431

rs_199472864

14 SubmittersRCV000058233 RCV000148539 RCV000181756 RCV000620293 RCV000988005 RCV000853031 RCV001841759

NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)

SNV
Germline

Chr7:150959602

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Cardiovascular phenotype
Long QT syndrome 2
Conduction disorder of the heart
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA008448

rs_139544114

20 SubmittersRCV000058234 RCV000148528 RCV000223902 RCV000618143 RCV000988004 RCV001256843 RCV001841760

NM_000238.4(KCNH2):c.446G>C (p.Gly149Ala)

SNV
Germline

Chr7:150959598

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Long QT syndrome 2
Short QT syndrome type 1
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA008457

rs_199472865

6 SubmittersRCV000058235 RCV000706355 RCV000765948 RCV003591665 RCV004017372

NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)

SNV
Germline

Chr7:150958449

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 2
not specified
Long QT syndrome
Cardiovascular phenotype
Short QT syndrome type 1
Long QT syndrome 2
Short QT syndrome type 1
Cardiac arrhythmia
Prolonged QT interval

Criteria Provided
Conflicting Classifications

CA008553

rs_36210422

22 SubmittersRCV000058238 RCV000157257 RCV000181761 RCV000199086 RCV000617719 RCV001196177 RCV005394293 RCV006255140 RCV005620340

NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr)

SNV
Germline

Chr7:150958407

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Long QT syndrome 2
Short QT syndrome type 1
not specified
Cardiovascular phenotype
KCNH2-related disorder

Criteria Provided
Conflicting Classifications

CA008604

rs_150817714

7 SubmittersRCV000058241 RCV000532958 RCV000765946 RCV000780360 RCV002345368 RCV004549487

NM_000238.4(KCNH2):c.82A>G (p.Lys28Glu)

SNV
Germline

Chr7:150974936

Pathogenic

Congenital long QT syndrome

No Assertion Criteria Provided

CA008871

rs_199472829

2 SubmittersRCV000058261

NM_000238.4(KCNH2):c.87C>A (p.Phe29Leu)

SNV
Germline

Chr7:150974931

Pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008941

rs_199472830

3 SubmittersRCV000058267 RCV001068013

NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg)

SNV
Germline

Chr7:150958059

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome 2
Long QT syndrome

Criteria Provided
Single Submitter

CA008981

rs_199472884

3 SubmittersRCV000058272 RCV000157261 RCV000198797

NM_000238.4(KCNH2):c.916G>T (p.Gly306Trp)

SNV
Germline

Chr7:150958059

Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008988

rs_199472884

3 SubmittersRCV000058273 RCV000182020 RCV000229643

NM_000238.4(KCNH2):c.92T>C (p.Ile31Thr)

SNV
Germline

Chr7:150974926

Likely pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA008995

rs_199472833

2 SubmittersRCV000058274 RCV000181922

NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys)

SNV
Germline

Chr7:150957437

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 2
Cardiac arrhythmia
KCNH2-related disorder

Criteria Provided
Conflicting Classifications

CA009053

rs_199473505

11 SubmittersRCV000058281 RCV000157262 RCV000210884 RCV000620416 RCV001162645 RCV001841763 RCV004549488

NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr)

SNV
Germline

Chr7:150974920

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA009070

rs_199473487

7 SubmittersRCV000058282 RCV000780363 RCV003343627 RCV005401318

NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys)

SNV
Germline

Chr12:2607117

Pathogenic/Likely pathogenic

Brugada syndrome
Long QT syndrome
Timothy syndrome
Long QT syndrome 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA264828

rs_199473391

7 SubmittersRCV000058287 RCV000475353 RCV001795047 RCV004786338 RCV005430959

NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)

SNV
Germline

Chr12:2688702

Conflicting classifications of pathogenicity

Brugada syndrome
Brugada syndrome (shorter-than-normal QT interval)
not specified
Cardiovascular phenotype
Condition: not provided
Brugada syndrome 3
Long QT syndrome
Timothy syndrome
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA211379

rs_199473660

12 SubmittersRCV000058289 RCV000148443 RCV000212341 RCV000620928 RCV000724590 RCV000678943 RCV001086309 RCV000988771 RCV004734615

NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn)

SNV
Germline

Chr12:2691170

Conflicting classifications of pathogenicity

Brugada syndrome
Condition: not provided
Timothy syndrome
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA264837

rs_199473392

7 SubmittersRCV000058290 RCV000170829 RCV000678917 RCV001089169 RCV002362692

NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln)

SNV
Germline

Chr17:70175239

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
not specified
Andersen Tawil syndrome
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA302017

rs_199473368

6 SubmittersRCV000058295 RCV000170972 RCV000678807 RCV001218636 RCV004017374

NM_000891.3(KCNJ2):c.211G>A (p.Asp71Asn)

SNV
Germline

Chr17:70175250

Likely pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA329642

rs_199473369

2 SubmittersRCV000058297 RCV000413768

NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met)

SNV
Germline

Chr17:70175263

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Andersen Tawil syndrome
Short QT syndrome type 3
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA302067

rs_104894585

4 SubmittersRCV000058302 RCV000170993 RCV000644783 RCV004629147

NM_000891.3(KCNJ2):c.232G>T (p.Asp78Tyr)

SNV
Germline

Chr17:70175271

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Single Submitter

CA329651

rs_199473372

2 SubmittersRCV000058303 RCV001246254

NM_000891.3(KCNJ2):c.233A>G (p.Asp78Gly)

SNV
Germline

Chr17:70175272

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome

No Assertion Criteria Provided

CA329654

rs_199473371

2 SubmittersRCV000058304 RCV000157272

NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)

SNV
Germline

Chr17:70175284

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Cardiovascular phenotype
Andersen Tawil syndrome
Short QT syndrome type 3
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA329657

rs_199473653

7 SubmittersRCV000058306 RCV000466653 RCV000619060 RCV000791354 RCV001575542 RCV004700362

NM_000891.3(KCNJ2):c.407C>T (p.Ser136Phe)

SNV
Germline

Chr17:70175446

Pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA329663

rs_199473376

2 SubmittersRCV000058310 RCV004819992

NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser)

SNV
Germline

Chr17:70175469

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA329666

rs_199473378

3 SubmittersRCV000058311 RCV001382882 RCV002470749

NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)

SNV
Germline

Chr17:70175470

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3
Condition: not provided
Andersen Tawil syndrome
Short QT syndrome type 3
Atrial fibrillation, familial, 9
Andersen Tawil syndrome
Short QT syndrome type 1
Atrial fibrillation, familial, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA329669

rs_199473377

5 SubmittersRCV000058312 RCV000644780 RCV001775567 RCV001535632 RCV001824594

NM_000891.3(KCNJ2):c.431G>C (p.Gly144Ala)

SNV
Germline

Chr17:70175470

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA329672

rs_199473377

3 SubmittersRCV000058313 RCV001057585 RCV003480051

NM_000891.3(KCNJ2):c.436G>A (p.Gly146Ser)

SNV
Germline

Chr17:70175475

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3
Andersen Tawil syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA329675

rs_199473654

3 SubmittersRCV000058314 RCV003764731 RCV005867843

NM_000891.3(KCNJ2):c.566G>T (p.Arg189Ile)

SNV
Germline

Chr17:70175605

Likely pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA302038

rs_199473381

2 SubmittersRCV000058320 RCV000170981

NM_000891.3(KCNJ2):c.574A>G (p.Thr192Ala)

SNV
Germline

Chr17:70175613

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome

Criteria Provided
Single Submitter

CA329687

rs_199473382

2 SubmittersRCV000058321 RCV001258374

NM_000891.3(KCNJ2):c.575C>T (p.Thr192Ile)

SNV
Germline

Chr17:70175614

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA329690

rs_199473655

3 SubmittersRCV000058322 RCV002513763 RCV005639080

NM_000891.3(KCNJ2):c.644G>A (p.Gly215Asp)

SNV
Germline

Chr17:70175683

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Single Submitter

CA329693

rs_199473383

2 SubmittersRCV000058323 RCV001388390

NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)

SNV
Germline

Chr17:70175692

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Condition: not provided
Andersen Tawil syndrome
Short QT syndrome type 3
Cardiovascular phenotype
Andersen Tawil syndrome
Short QT syndrome type 3
Atrial fibrillation, familial, 9

Criteria Provided
Multiple Submitters
No Conflicts

CA329699

rs_199473384

10 SubmittersRCV000058327 RCV000157273 RCV000255682 RCV000791452 RCV002362693 RCV002483105

NM_000891.3(KCNJ2):c.779G>C (p.Arg260Pro)

SNV
Germline

Chr17:70175818

Pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA302046

rs_199473385

2 SubmittersRCV000058329 RCV000170984

NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp)

SNV
Germline

Chr17:70175938

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Condition: not provided
Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA329702

rs_104894579

4 SubmittersRCV000058330 RCV000194837 RCV001268135 RCV003764732

NM_000891.3(KCNJ2):c.926C>T (p.Thr309Ile)

SNV
Germline

Chr17:70175965

Pathogenic

Congenital long QT syndrome
Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Single Submitter

CA329714

rs_199473388

2 SubmittersRCV000058338 RCV002513764

NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys)

SNV
Germline

Chr17:70175973

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Andersen Tawil syndrome
Short QT syndrome type 3
Andersen Tawil syndrome
KCNJ2-related disorder
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA329717

rs_199473389

7 SubmittersRCV000058339 RCV000443262 RCV001055449 RCV002054905 RCV003390761 RCV004992005

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
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA329720

rs_180843436

7 SubmittersRCV000058340 RCV000143869 RCV000375362 RCV000818116 RCV002483106 RCV004019025

NM_001148.6(ANK2):c.10858T>A (p.Trp3620Arg)

SNV
Germline

Chr4:113363439

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA300933

rs_199473346

3 SubmittersRCV000058341 RCV000794010 RCV000779424

NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val)

SNV
Germline

Chr4:113363442

Conflicting classifications of pathogenicity

Congenital long QT syndrome
not specified
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA199905

rs_45570339

12 SubmittersRCV000058342 RCV000170658 RCV000171796 RCV000618704 RCV001150176 RCV001705712

NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp)

SNV
Germline

Chr4:113365051

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Familial dilated cardiomyopathy and peripheral neuropathy
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiac arrhythmia
ANK2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA145025

rs_66785829

12 SubmittersRCV000620213 RCV000589585 RCV000852980 RCV001085479 RCV001150178 RCV001841765 RCV003974947 RCV005400699

NM_001148.6(ANK2):c.11516G>C (p.Ser3839Thr)

SNV
Germline

Chr4:113369711

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA329735

rs_148654834

5 SubmittersRCV000058348 RCV001572006 RCV001854214 RCV002504967 RCV004019026

NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys)

SNV
Germline

Chr4:113345966

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Cardiomyopathy
Hypertrophic cardiomyopathy
Cardiac arrhythmia, ankyrin-B-related
not specified

Criteria Provided
Conflicting Classifications

CA218791

rs_34591340

12 SubmittersRCV000058355 RCV000247414 RCV000363942 RCV000852554 RCV000987467 RCV005434627

NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp)

SNV
Germline

Chr21:34370707

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
not specified
Long QT syndrome 6
Atrial fibrillation, familial, 4
Long QT syndrome 6
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA211462

rs_141423405

8 SubmittersRCV000058367 RCV000148522 RCV000170957 RCV000781484 RCV001246221 RCV002477193 RCV002444517

NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala)

SNV
Germline

Chr21:34370500

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Long QT syndrome, drug-associated
Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 6

Criteria Provided
Conflicting Classifications

CA199953

rs_2234916

11 SubmittersRCV000058368 RCV000170566 RCV000171812 RCV000248455 RCV000845300 RCV001086272

NM_172201.2(KCNE2):c.230G>A (p.Arg77Gln)

SNV
Germline

Chr21:34370708

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 6

Criteria Provided
Conflicting Classifications

CA211464

rs_199473365

4 SubmittersRCV000058369 RCV000148523 RCV002444518 RCV006461349

NM_172201.2(KCNE2):c.281A>G (p.Glu94Gly)

SNV
Germline

Chr21:34370759

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Cardiovascular phenotype
Long QT syndrome 6

Criteria Provided
Conflicting Classifications

CA329753

rs_74424227

3 SubmittersRCV000058372 RCV002433561 RCV002513765

NM_172201.2(KCNE2):c.29C>T (p.Thr10Met)

SNV
Germline

Chr21:34370507

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
not specified
Long QT syndrome 6
Hypertrophic cardiomyopathy
Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA199792

rs_199473648

10 SubmittersRCV000058373 RCV000171565 RCV000218738 RCV000576170 RCV000999581 RCV001703969 RCV002433562

NM_172201.2(KCNE2):c.347C>T (p.Ala116Val)

SNV
Germline

Chr21:34370825

Conflicting classifications of pathogenicity

Acquired long QT syndrome
Condition: not provided
Long QT syndrome 6

Criteria Provided
Conflicting Classifications

CA145058

rs_199473367

5 SubmittersRCV000058374 RCV000222131 RCV001823107

NM_172201.2(KCNE2):c.80G>A (p.Arg27His)

SNV
Germline

Chr21:34370558

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Long QT syndrome 6
Cardiovascular phenotype
Long QT syndrome 6
Atrial fibrillation, familial, 4

Criteria Provided
Conflicting Classifications

CA211459

rs_148968498

6 SubmittersRCV000058378 RCV000148520 RCV000786140 RCV001088249 RCV002415515 RCV002467562

NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln)

SNV
Germline

Chr3:38606790

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Brugada syndrome 1
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
8 conditions
not specified

Criteria Provided
Conflicting Classifications

CA014177

rs_191009474

14 SubmittersRCV000058382 RCV000991046 RCV001723640 RCV001841767 RCV002362694 RCV002504968 RCV004700363

NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn)

SNV
Germline

Chr3:38606743

Pathogenic/Likely pathogenic

Brugada syndrome
Condition: not provided
Brugada syndrome (shorter-than-normal QT interval)
Brugada syndrome 1
Cardiovascular phenotype
Long QT syndrome 3
Dilated cardiomyopathy 1E
Brugada syndrome 1
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA014277

rs_199473565

12 SubmittersRCV000058388 RCV000182956 RCV000588086 RCV000678958 RCV002408568 RCV006257265 RCV006547585

NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys)

SNV
Germline

Chr3:38606710

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Brugada syndrome
8 conditions
Cardiovascular phenotype
Cardiac arrhythmia
SCN5A-related disorder
Brugada syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA014305

rs_199473097

12 SubmittersRCV000058389 RCV000182957 RCV000466350 RCV000763108 RCV002444519 RCV003987345 RCV004545743 RCV006434918

NM_000335.5(SCN5A):c.1218C>A (p.Asn406Lys)

SNV
Germline

Chr3:38606071

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
SCN5A-related disorder
Long QT syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA014532

rs_199473108

4 SubmittersRCV000058405 RCV000182963 RCV004545744 RCV004786339

NM_000335.5(SCN5A):c.1218C>G (p.Asn406Lys)

SNV
Germline

Chr3:38606071

Pathogenic

Congenital long QT syndrome
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA014540

rs_199473108

2 SubmittersRCV000058406 RCV005400700

NM_000335.5(SCN5A):c.1231G>A (p.Val411Met)

SNV
Germline

Chr3:38606058

Pathogenic

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Long QT syndrome 3
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA014560

rs_72549410

13 SubmittersRCV000058408 RCV000157478 RCV000182964 RCV000234790 RCV000621361

NM_000335.5(SCN5A):c.128G>A (p.Arg43Gln)

SNV
Germline

Chr3:38633180

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Cardiac arrhythmia
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014665

rs_199473047

6 SubmittersRCV000058412 RCV001842274 RCV003319178 RCV003298118 RCV003654189

NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys)

SNV
Germline

Chr3:38604035

Conflicting classifications of pathogenicity

Congenital long QT syndrome
6 conditions
Condition: not provided
Wolff-Parkinson-White pattern
Cardiac arrhythmia
Brugada syndrome 1

Criteria Provided
Conflicting Classifications

CA014976

rs_199473119

8 SubmittersRCV000058429 RCV000196670 RCV000239767 RCV000656174 RCV001842283 RCV005859488

NM_000335.5(SCN5A):c.1714G>T (p.Ala572Ser)

SNV
Germline

Chr3:38603888

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
not specified
Brugada syndrome 1
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA015256

rs_184442491

7 SubmittersRCV000058446 RCV000148854 RCV000456073 RCV000987224 RCV003486629

NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val)

SNV
Germline

Chr3:38603887

Conflicting classifications of pathogenicity

Congenital long QT syndrome
not specified
Brugada syndrome 1
Cardiomyopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015275

rs_36210423

6 SubmittersRCV000058448 RCV000455370 RCV000987223 RCV003486631 RCV003541010

NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)

SNV
Germline

Chr3:38603758

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome, drug-associated
not specified
Death in early adulthood
Death in infancy
Long QT syndrome 3
Cardiovascular phenotype
Condition: not provided
Cardiac arrhythmia
Brugada syndrome 1

Criteria Provided
Conflicting Classifications

CA015428

rs_12720452

18 SubmittersRCV000058455 RCV000148853 RCV000151792 RCV000234978 RCV000234973 RCV000521151 RCV000622256 RCV000766786 RCV001842298 RCV006434926

NM_000335.5(SCN5A):c.1915G>A (p.Gly639Arg)

SNV
Germline

Chr3:38599026

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
SCN5A-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015554

rs_199473136

7 SubmittersRCV000058462 RCV000171572 RCV001842303 RCV003298119 RCV004528264 RCV003764734

NM_000335.5(SCN5A):c.2071G>A (p.Ala691Thr)

SNV
Germline

Chr3:38597920

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
8 conditions
Brugada syndrome

Criteria Provided
Conflicting Classifications

CA015822

rs_199473146

8 SubmittersRCV000058478 RCV001811346 RCV001842309 RCV003162455 RCV003224132 RCV005627342

NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)

SNV
Germline

Chr3:38597917

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015830

rs_45553235

23 SubmittersRCV000058479 RCV000148842 RCV000157484 RCV000151790 RCV000202895 RCV000618520 RCV000987217 RCV001149798 RCV001149799 RCV001149800 RCV001149801 RCV001149802 RCV001842310 RCV003486632

NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu)

SNV
Germline

Chr3:38597889

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia
8 conditions

Criteria Provided
Conflicting Classifications

CA015838

rs_199473147

11 SubmittersRCV000058480 RCV000171571 RCV000182996 RCV000619698 RCV001842311 RCV004795995

NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln)

SNV
Germline

Chr3:38586037

Pathogenic/Likely pathogenic

Brugada syndrome
Condition: not provided
Cardiovascular phenotype
not specified
Brugada syndrome 1
Long QT syndrome 3
Cardiac arrhythmia
Long QT syndrome 3
SCN5A-related disorder
Brugada syndrome 1
Brugada syndrome 1
Dilated cardiomyopathy 1E
Long QT syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA016182

rs_199473584

14 SubmittersRCV000058501 RCV000497380 RCV000620361 RCV000824760 RCV001258075 RCV001842314 RCV003322595 RCV004734619 RCV006434933 RCV006257266

NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg)

SNV
Germline

Chr3:38585981

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Long QT syndrome 3
Brugada syndrome
Brugada syndrome 1
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA016206

rs_45475899

11 SubmittersRCV000058503 RCV000148860 RCV000239085 RCV000987215 RCV001842315 RCV002426618

NM_000335.5(SCN5A):c.2527A>G (p.Thr843Ala)

SNV
Germline

Chr3:38585951

Pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA016243

rs_199473165

2 SubmittersRCV000058508 RCV000183178

NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu)

SNV
Germline

Chr3:38585749

Pathogenic/Likely pathogenic

Brugada syndrome
Cardiovascular phenotype
Condition: not provided
Brugada syndrome 1
Progressive familial heart block, type 1A
Dilated cardiomyopathy 1E
Atrial fibrillation, familial, 10
Long QT syndrome 3
Brugada syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA016445

rs_199473175

9 SubmittersRCV000058522 RCV000617872 RCV001588893 RCV004795996 RCV006249583

NM_000335.5(SCN5A):c.2911C>T (p.Arg971Cys)

SNV
Germline

Chr3:38581248

Conflicting classifications of pathogenicity

Condition: not provided
Cardiac arrhythmia
Long QT syndrome 3

Criteria Provided
Conflicting Classifications

CA016616

rs_61737825

6 SubmittersRCV000058536 RCV001842320 RCV004998184

NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)

SNV
Germline

Chr3:38581215

Conflicting classifications of pathogenicity

Sudden cardiac death
not specified
Condition: not provided
Sudden cardiac arrest
Progressive familial heart block, type 1A
Primary familial dilated cardiomyopathy
Dilated cardiomyopathy 1E
Long QT syndrome 3
Sick sinus syndrome 1
Brugada syndrome 1
Ventricular fibrillation, paroxysmal familial, type 1
Cardiac arrhythmia
Cardiovascular phenotype
SCN5A-related disorder

Criteria Provided
Conflicting Classifications

CA016652

rs_199473182

19 SubmittersRCV000058539 RCV000151788 RCV000724184 RCV000852549 RCV001149576 RCV000845398 RCV001145287 RCV001149578 RCV001149580 RCV001149577 RCV001149579 RCV001842322 RCV002433564 RCV004537260

NM_000335.5(SCN5A):c.2957G>A (p.Arg986Gln)

SNV
Germline

Chr3:38581202

Conflicting classifications of pathogenicity

Condition: not provided
Brugada syndrome 1
Sick sinus syndrome 1
Progressive familial heart block, type 1A
Dilated cardiomyopathy 1E
Long QT syndrome 3
Ventricular fibrillation, paroxysmal familial, type 1
Cardiac arrhythmia
Cardiovascular phenotype
SCN5A-related disorder

Criteria Provided
Conflicting Classifications

CA016672

rs_41313667

7 SubmittersRCV000058540 RCV001147141 RCV001147142 RCV001147138 RCV001147140 RCV001147137 RCV001147139 RCV001842323 RCV004019045 RCV004734620

NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)

SNV
Germline

Chr3:38581170

Conflicting classifications of pathogenicity

Brugada syndrome
SUDDEN INFANT DEATH SYNDROME
Brugada syndrome
Condition: not provided
Ventricular fibrillation, paroxysmal familial, type 1
Long QT syndrome 3
Dilated cardiomyopathy 1E
Progressive familial heart block, type 1A
Sick sinus syndrome 1
Cardiac arrhythmia
Cardiomyopathy
Cardiovascular phenotype
8 conditions

Criteria Provided
Conflicting Classifications

CA016710

rs_137854609

16 SubmittersRCV000058541 RCV000171570 RCV000766794 RCV001145179 RCV001145180 RCV001145181 RCV001147136 RCV001145182 RCV001842324 RCV003149712 RCV004019046 RCV005394295

NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)

SNV
Germline

Chr3:38581149

Conflicting classifications of pathogenicity

Congenital long QT syndrome
not specified
Brugada syndrome 1
Condition: not provided
Progressive familial heart block, type 1A
Sick sinus syndrome 1
Long QT syndrome 3
Ventricular fibrillation, paroxysmal familial, type 1
Dilated cardiomyopathy 1E
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA016748

rs_199473183

13 SubmittersRCV000058543 RCV000155885 RCV000987213 RCV000766795 RCV001145177 RCV001145178 RCV001149459 RCV001149460 RCV001145176 RCV001842325 RCV002433565

NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met)

SNV
Germline

Chr3:38580953

Conflicting classifications of pathogenicity

Congenital long QT syndrome
not specified
Condition: not provided
Brugada syndrome 1
Cardiac arrhythmia
Cardiovascular phenotype
8 conditions

Criteria Provided
Conflicting Classifications

CA016900

rs_199473187

10 SubmittersRCV000058554 RCV000183027 RCV000766797 RCV000987211 RCV001842330 RCV002321559 RCV005031545

NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu)

SNV
Germline

Chr3:38579432

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017002

rs_199473191

8 SubmittersRCV000058561 RCV001147832 RCV001089363 RCV001147831 RCV001147833 RCV001147830 RCV001149365 RCV001149366 RCV001842331 RCV002321560 RCV003235025

NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val)

SNV
Germline

Chr3:38579425

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia
8 conditions

Criteria Provided
Conflicting Classifications

CA017023

rs_199473192

8 SubmittersRCV000058562 RCV000148851 RCV000183030 RCV000621290 RCV001842332 RCV002477200

NM_000335.5(SCN5A):c.3337G>A (p.Asp1113Asn)

SNV
Germline

Chr3:38579384

Conflicting classifications of pathogenicity

Congenital long QT syndrome
not specified
Condition: not provided
Cardiac arrhythmia
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA017057

rs_199473195

9 SubmittersRCV000058566 RCV000454482 RCV001572250 RCV001842334 RCV003486634 RCV004019047

NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr)

SNV
Germline

Chr3:38575407

Conflicting classifications of pathogenicity

Congenital long QT syndrome
not specified
8 conditions
Brugada syndrome 1
Sick sinus syndrome 1
Dilated cardiomyopathy 1E
Progressive familial heart block, type 1A
Long QT syndrome 3
Ventricular fibrillation, paroxysmal familial, type 1
Cardiac arrhythmia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017261

rs_199473595

7 SubmittersRCV000058576 RCV000156315 RCV000765735 RCV001150963 RCV001150968 RCV001150964 RCV001150966 RCV001150965 RCV001150967 RCV001842338 RCV003654192

NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp)

SNV
Germline

Chr3:38630342

Pathogenic/Likely pathogenic

Brugada syndrome
Condition: not provided
Brugada syndrome 1
Cardiovascular phenotype
Brugada syndrome 1
Progressive familial heart block, type 1A
Dilated cardiomyopathy 1E
Atrial fibrillation, familial, 10
Long QT syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA017341

rs_199473556

8 SubmittersRCV000058582 RCV000413145 RCV000522231 RCV000622117 RCV004764901

NM_000335.5(SCN5A):c.3670G>A (p.Glu1224Lys)

SNV
Germline

Chr3:38566576

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
Brugada syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA017399

rs_199473204

7 SubmittersRCV000058585 RCV001731355 RCV001842341 RCV004019048 RCV006434947

NM_000335.5(SCN5A):c.3688G>A (p.Glu1230Lys)

SNV
Germline

Chr3:38566558

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017410

rs_199473598

3 SubmittersRCV000058587 RCV000183184

NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)

SNV
Germline

Chr3:38562500

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Brugada syndrome
Long QT syndrome
Primary familial dilated cardiomyopathy
Brugada syndrome 1
Cardiac arrhythmia
Cardiovascular phenotype
8 conditions

Criteria Provided
Conflicting Classifications

CA017579

rs_41311127

19 SubmittersRCV000058610 RCV000151781 RCV000171772 RCV000417329 RCV000845318 RCV001147537 RCV001842352 RCV002354250 RCV003224134

NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)

SNV
Germline

Chr3:38562467

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Brugada syndrome
Long QT syndrome 3
Cardiovascular phenotype
Condition: not provided
not specified
Conduction disorder of the heart
Brugada syndrome 1
Cardiac arrhythmia
SCN5A-related disorder

Criteria Provided
Conflicting Classifications

CA017612

rs_199473603

26 SubmittersRCV000058613 RCV000148846 RCV000470787 RCV000496069 RCV000618218 RCV000725469 RCV000824759 RCV000993797 RCV000987206 RCV001842354 RCV004537261

NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)

SNV
Germline

Chr3:38562422

Pathogenic/Likely pathogenic

Brugada syndrome
Cardiovascular phenotype
Condition: not provided
Long QT syndrome 3
Brugada syndrome (shorter-than-normal QT interval)
Cardiac arrhythmia
8 conditions
Brugada syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA017654

rs_199473220

19 SubmittersRCV000058616 RCV000252945 RCV000505769 RCV000709762 RCV001553760 RCV001842356 RCV002483113 RCV004786342

NM_000335.5(SCN5A):c.3973G>T (p.Ala1325Ser)

SNV
Germline

Chr3:38560416

Pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA017686

rs_199473222

2 SubmittersRCV000058619 RCV000183188

NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr)

SNV
Germline

Chr3:38560404

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided
SCN5A-related disorder
Cardiovascular phenotype
Brugada syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA017699

rs_199473224

7 SubmittersRCV000058621 RCV000183053 RCV000509258 RCV000589022 RCV006434952

NM_000335.5(SCN5A):c.3985G>C (p.Ala1329Pro)

SNV
Germline

Chr3:38560404

Pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA017704

rs_199473224

2 SubmittersRCV000058622 RCV003556153

NM_000335.5(SCN5A):c.3992C>T (p.Pro1331Leu)

SNV
Germline

Chr3:38560397

Pathogenic

Brugada syndrome
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA017721

rs_199473225

9 SubmittersRCV000058623 RCV000183056 RCV001255563 RCV002371902

NM_000335.5(SCN5A):c.3997A>G (p.Ile1333Val)

SNV
Germline

Chr3:38560392

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA017738

rs_199473226

5 SubmittersRCV000058626 RCV000183057 RCV004017378

NM_000335.5(SCN5A):c.4370C>A (p.Ser1457Tyr)

SNV
Germline

Chr3:38556505

Pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA018188

rs_199473253

2 SubmittersRCV000058667 RCV000183071

NM_000335.5(SCN5A):c.4439G>A (p.Gly1480Glu)

SNV
Germline

Chr3:38555756

Likely pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA018265

rs_199473257

2 SubmittersRCV000058673 RCV004700367

NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg)

SNV
Germline

Chr3:38555720

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Cardiovascular phenotype
Condition: not provided
Long QT syndrome 3
Cardiac arrhythmia
SCN5A-related disorder
8 conditions
Brugada syndrome 1
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA018316

rs_199473260

14 SubmittersRCV000058678 RCV000619395 RCV001508490 RCV001542741 RCV001842365 RCV004528265 RCV005031546 RCV004786343 RCV006456666

NM_000335.5(SCN5A):c.4481A>C (p.Tyr1494Ser)

SNV
Germline

Chr3:38555714

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018330

rs_199473262

3 SubmittersRCV000058680 RCV000183079

NM_000335.5(SCN5A):c.4490T>C (p.Met1497Thr)

SNV
Germline

Chr3:38555705

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA018346

rs_199473263

4 SubmittersRCV000058682 RCV000183196 RCV000619022

NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val)

SNV
Germline

Chr3:38555697

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome 3
Condition: not provided
Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
SCN5A-related disorder
8 conditions
Brugada syndrome 1

Criteria Provided
Conflicting Classifications

CA018357

rs_199473266

12 SubmittersRCV000058684 RCV000709759 RCV000756618 RCV001201272 RCV001842366 RCV003162459 RCV004537262 RCV005031547 RCV004786344

NM_000335.5(SCN5A):c.4504T>C (p.Ser1502Pro)

SNV
Germline

Chr3:38555691

Likely pathogenic

Congenital long QT syndrome
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA018376

rs_199473342

2 SubmittersRCV000058686 RCV002336210

NM_000335.5(SCN5A):c.4591G>A (p.Val1531Ile)

SNV
Germline

Chr3:38554498

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
not specified
Brugada syndrome 1
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA018450

rs_199473618

9 SubmittersRCV000058693 RCV000148850 RCV000183081 RCV000987201 RCV001725963 RCV001842367 RCV002336211

NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)

SNV
Germline

Chr3:38554306

Conflicting classifications of pathogenicity

Congenital long QT syndrome
not specified
Cardiovascular phenotype
8 conditions
Condition: not provided
Sick sinus syndrome 1
Cardiac arrhythmia
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA018565

rs_199473278

16 SubmittersRCV000058707 RCV000183085 RCV000247337 RCV000765734 RCV000766805 RCV001150546 RCV001842369 RCV003149713

NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys)

SNV
Germline

Chr3:38622401

Pathogenic/Likely pathogenic

Brugada syndrome
Condition: not provided
Cardiovascular phenotype
Brugada syndrome 1
Sick sinus syndrome 1
Long QT syndrome
Dilated cardiomyopathy 1E
SUDDEN INFANT DEATH SYNDROME
Brugada syndrome 1
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA018588

rs_199473062

12 SubmittersRCV000058710 RCV001699194 RCV002336213 RCV004786347 RCV005428999 RCV006547592

NM_000335.5(SCN5A):c.4865G>T (p.Arg1622Leu)

SNV
Germline

Chr3:38551504

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome 3

Criteria Provided
Single Submitter

CA018677

rs_137854600

2 SubmittersRCV000058717 RCV001258376

NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His)

SNV
Germline

Chr3:38551495

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 3
Cardiac arrhythmia
not specified
Brugada syndrome 1

Criteria Provided
Conflicting Classifications

CA018698

rs_199473283

12 SubmittersRCV000058718 RCV000183089 RCV000252940 RCV000779405 RCV001842372 RCV005055560 RCV005862966

NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln)

SNV
Germline

Chr3:38551486

Pathogenic/Likely pathogenic

Brugada syndrome
Condition: not provided
Long QT syndrome 3
Brugada syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA018714

rs_199473623

5 SubmittersRCV000058721 RCV000489058 RCV000709763 RCV006434978

NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)

SNV
Germline

Chr3:38551477

Conflicting classifications of pathogenicity

Conduction system disorder
Condition: not provided
Brugada syndrome 1
Long QT syndrome 3
Sick sinus syndrome 1
SUDDEN INFANT DEATH SYNDROME
Cardiovascular phenotype
Brugada syndrome
Brugada syndrome 1
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA018735

rs_199473286

14 SubmittersRCV000058723 RCV000519341 RCV001258072 RCV001530198 RCV001787861 RCV002336214 RCV003996546 RCV003450919 RCV003591672

NM_000335.5(SCN5A):c.4927C>T (p.Arg1643Cys)

SNV
Germline

Chr3:38551442

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Cardiovascular phenotype
Condition: not provided
Brugada syndrome
Brugada syndrome 1
Cardiac arrhythmia
8 conditions

Criteria Provided
Conflicting Classifications

CA018754

rs_199473287

7 SubmittersRCV000058725 RCV002336215 RCV003541168 RCV003996547 RCV006434979 RCV006547593 RCV006605214

NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val)

SNV
Germline

Chr3:38551394

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Dilated cardiomyopathy 1E
Cardiac arrhythmia
Brugada syndrome 1

Criteria Provided
Conflicting Classifications

CA018806

rs_199473625

16 SubmittersRCV000058732 RCV000183093 RCV000618797 RCV002054906 RCV003996548 RCV006434980

NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile)

SNV
Germline

Chr3:38551373

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA018825

rs_199473293

7 SubmittersRCV000058734 RCV000190217 RCV000523560 RCV001842375 RCV002336216

NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met)

SNV
Germline

Chr3:38551246

Conflicting classifications of pathogenicity

Brugada syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia
Long QT syndrome 3
Brugada syndrome 1
Brugada syndrome 1

Criteria Provided
Conflicting Classifications

CA018904

rs_199473297

11 SubmittersRCV000058742 RCV000183101 RCV000617525 RCV001842378 RCV006547595 RCV006434983

NM_000335.5(SCN5A):c.5284G>A (p.Val1762Met)

SNV
Germline

Chr3:38551085

Pathogenic

Congenital long QT syndrome
Condition: not provided
SUDDEN INFANT DEATH SYNDROME
Long QT syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA019062

rs_199473631

5 SubmittersRCV000058760 RCV000183112 RCV001787862 RCV004786351

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

Criteria Provided
Conflicting Classifications

CA019099

rs_199473044

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

NM_000335.5(SCN5A):c.5299A>G (p.Ile1767Val)

SNV
Germline

Chr3:38551070

Pathogenic

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA019094

rs_199473311

6 SubmittersRCV000058766 RCV000183198 RCV000620629 RCV000660252

NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met)

SNV
Germline

Chr3:38551036

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
not specified
Cardiovascular phenotype
Condition: not provided
Progressive familial heart block, type 1A
Sick sinus syndrome 1
Brugada syndrome 1
Long QT syndrome 3
Ventricular fibrillation, paroxysmal familial, type 1
Dilated cardiomyopathy 1E
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA019134

rs_199473634

15 SubmittersRCV000058771 RCV000148849 RCV000183115 RCV000617171 RCV000786219 RCV001146113 RCV001146114 RCV001146115 RCV001146116 RCV001146117 RCV001146112 RCV001842384

NM_000335.5(SCN5A):c.5354T>A (p.Leu1785Gln)

SNV
Germline

Chr3:38551015

Likely pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA019153

rs_199473315

2 SubmittersRCV000058774 RCV003542281

NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn)

SNV
Germline

Chr3:38551012

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Familial isolated arrhythmogenic right ventricular dysplasia
Cardiovascular phenotype
Brugada syndrome 1
Dilated cardiomyopathy 1E
Sick sinus syndrome 1
Ventricular fibrillation, paroxysmal familial, type 1
Progressive familial heart block, type 1A
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA019158

rs_199473316

14 SubmittersRCV000058775 RCV000148840 RCV000154835 RCV000474591 RCV000621224 RCV000987199 RCV001144221 RCV001144218 RCV001144219 RCV001144220 RCV001842385

NM_000335.5(SCN5A):c.5366A>G (p.Asp1789Gly)

SNV
Germline

Chr3:38551003

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA019174

rs_199473317

3 SubmittersRCV000058776 RCV003542282

NM_000335.5(SCN5A):c.568C>G (p.Arg190Gly)

SNV
Germline

Chr3:38620886

Conflicting classifications of pathogenicity

Congenital long QT syndrome
not specified
Condition: not provided
Cardiac arrhythmia
Brugada syndrome 1

Criteria Provided
Conflicting Classifications

CA019420

rs_199473068

8 SubmittersRCV000058798 RCV000157477 RCV000766778 RCV001842390 RCV006434991

NM_000335.5(SCN5A):c.5723A>G (p.Gln1908Arg)

SNV
Germline

Chr3:38550646

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA019443

rs_199473326

6 SubmittersRCV000058803 RCV000183131 RCV000244977 RCV001842393

NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met)

SNV
Germline

Chr3:38550521

Conflicting classifications of pathogenicity

Atrial fibrillation
Condition: not provided
Long QT syndrome 2
Cardiovascular phenotype
Progressive familial heart block, type 1A
Dilated cardiomyopathy 1E
Long QT syndrome 3
not specified
Brugada syndrome 1
Ventricular fibrillation, paroxysmal familial, type 1
Sick sinus syndrome 1
Cardiac arrhythmia
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA019505

rs_41315493

9 SubmittersRCV000058810 RCV000183135 RCV000208349 RCV000249083 RCV001150126 RCV001150127 RCV001150128 RCV001192713 RCV001148565 RCV001148567 RCV001148566 RCV001842396 RCV003486638

NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln)

SNV
Germline

Chr3:38550499

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Brugada syndrome 1
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA019519

rs_199473331

11 SubmittersRCV000058812 RCV000148844 RCV000212995 RCV000987194 RCV001842397 RCV002354251

NM_000335.5(SCN5A):c.5960T>G (p.Leu1987Arg)

SNV
Germline

Chr3:38550409

Conflicting classifications of pathogenicity

Condition: not provided
Brugada syndrome 1
Long QT syndrome 3
Dilated cardiomyopathy 1E
Sick sinus syndrome 1
Progressive familial heart block, type 1A
Ventricular fibrillation, paroxysmal familial, type 1
Cardiac arrhythmia
Cardiovascular phenotype
not specified
SCN5A-related disorder

Criteria Provided
Conflicting Classifications

CA019559

rs_145009013

9 SubmittersRCV000058819 RCV000987193 RCV001143897 RCV001150020 RCV001143896 RCV001150018 RCV001150019 RCV001842400 RCV002354253 RCV003317073 RCV004734622

NM_000335.5(SCN5A):c.6007T>G (p.Phe2003Val)

SNV
Germline

Chr3:38550362

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Progressive familial heart block, type 1A
Ventricular fibrillation, paroxysmal familial, type 1
Brugada syndrome 1
Sick sinus syndrome 1
Long QT syndrome 3
Dilated cardiomyopathy 1E
Cardiac arrhythmia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019582

rs_41311117

5 SubmittersRCV000058822 RCV001145570 RCV001145571 RCV001145572 RCV001145573 RCV001149903 RCV001145569 RCV001842402 RCV003654194

NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala)

SNV
Germline

Chr3:38550356

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Brugada syndrome 1
Dilated cardiomyopathy 1E
Progressive familial heart block, type 1A
Ventricular fibrillation, paroxysmal familial, type 1
Long QT syndrome 3
Sick sinus syndrome 1
Cardiac arrhythmia
Cardiomyopathy
SCN5A-related disorder

Criteria Provided
Conflicting Classifications

CA019597

rs_45489199

16 SubmittersRCV000058824 RCV000154829 RCV000242689 RCV000678920 RCV001149899 RCV001149900 RCV001149901 RCV001149902 RCV001149898 RCV001842403 RCV003149714 RCV004542729

NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)

SNV
Germline

Chr3:38613773

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Conduction system disorder
Condition: not provided
Long QT syndrome 3
Cardiovascular phenotype
Cardiac arrhythmia
8 conditions
SCN5A-related disorder
Brugada syndrome
Brugada syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA019714

rs_199473072

17 SubmittersRCV000058835 RCV000148865 RCV000182942 RCV000521042 RCV000620248 RCV001842405 RCV002477205 RCV004545872 RCV004804040 RCV006434993

NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln)

SNV
Germline

Chr3:38613772

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Brugada syndrome
Dilated cardiomyopathy 1E
Brugada syndrome 1
Condition: not provided
Cardiac arrhythmia
Long QT syndrome 3
Cardiovascular phenotype
8 conditions
Brugada syndrome 1
Long QT syndrome 3
Dilated cardiomyopathy 1E

Criteria Provided
Conflicting Classifications

CA019719

rs_199473071

14 SubmittersRCV000058836 RCV000812561 RCV000984326 RCV000987237 RCV001531996 RCV001842407 RCV001842406 RCV004019063 RCV004795999 RCV006257267

NM_000335.5(SCN5A):c.677C>T (p.Ala226Val)

SNV
Germline

Chr3:38613769

Conflicting classifications of pathogenicity

Brugada syndrome
not specified
Sick sinus syndrome 1
Long QT syndrome 3
Brugada syndrome 1
Ventricular fibrillation, paroxysmal familial, type 1
Progressive familial heart block, type 1A
Dilated cardiomyopathy 1E
Cardiac arrhythmia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019724

rs_199473561

9 SubmittersRCV000058837 RCV000454727 RCV001144461 RCV001144462 RCV000987236 RCV001146370 RCV001144463 RCV001146371 RCV001842408 RCV001705715

NM_000335.5(SCN5A):c.739G>C (p.Val247Leu)

SNV
Germline

Chr3:38609929

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA019780

rs_199473078

6 SubmittersRCV000058844 RCV000489533 RCV004804041

NM_000335.5(SCN5A):c.80G>A (p.Arg27His)

SNV
Germline

Chr3:38633228

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Death in infancy
Condition: not provided
Brugada syndrome 1
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA019812

rs_199473045

13 SubmittersRCV000058846 RCV000234990 RCV000713149 RCV000987245 RCV001842412 RCV002415517

NM_000238.4(KCNH2):c.1563C>T (p.Ile521=)

SNV
Germline

Chr7:150951830

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome 2
Long QT syndrome
not specified
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA004789

rs_143011005

17 SubmittersRCV000179737 RCV000251581 RCV001159683 RCV001082498 RCV001264431 RCV001842421

NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg)

SNV
Germline/somatic

Chr11:128911724

Pathogenic

Condition: not provided
Aldosterone-producing adrenal adenoma, somatic
Familial hyperaldosteronism type III
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA163129

rs_386352319

5 SubmittersRCV000122472 RCV000122749 RCV000122750 RCV002326795 RCV003531964

NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=)

SNV
Germline

Chr12:2512953

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Long QT syndrome
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA221245

rs_200330469

6 SubmittersRCV000079277 RCV000250456 RCV000723668 RCV001082734 RCV003925043

NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=)

SNV
Germline

Chr12:2566467

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA221254

rs_398123517

6 SubmittersRCV000723728 RCV001087995 RCV002399469 RCV005403758

NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=)

SNV
Germline

Chr12:2584558

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA221272

rs_141633456

6 SubmittersRCV000079281 RCV000621900 RCV001084502 RCV001256728

NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr)

SNV
Germline

Chr12:2585432

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Brugada syndrome 3
Long QT syndrome 8
Timothy syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA221281

rs_398123519

5 SubmittersRCV000079282 RCV001064085 RCV002490690 RCV004019533

NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=)

SNV
Germline

Chr12:2608529

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA221291

rs_398123521

3 SubmittersRCV000079286 RCV001403645 RCV002453399

NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)

SNV
Germline

Chr12:2610624

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA221300

rs_56394008

12 SubmittersRCV000248726 RCV000620526 RCV000723669 RCV001079799

NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)

SNV
Germline

Chr12:2611965

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Long QT syndrome
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA221309

rs_201258230

13 SubmittersRCV000250233 RCV000617472 RCV000723666 RCV001086024 RCV003891545

NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=)

SNV
Germline

Chr12:2651663

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Long QT syndrome
Cardiovascular phenotype
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA221318

rs_201345843

6 SubmittersRCV000723717 RCV000781193 RCV001083964 RCV002354275 RCV003944998

NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=)

SNV
Germline

Chr12:2668950

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA221336

rs_202194703

4 SubmittersRCV000079293 RCV001078863 RCV002336231 RCV005403759

NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)

SNV
Germline

Chr12:2679502

Conflicting classifications of pathogenicity

Condition: not provided
Restrictive cardiomyopathy
Long QT syndrome
not specified
Brugada syndrome
Long QT syndrome
Cardiovascular phenotype
Brugada syndrome 3
Long QT syndrome 8
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Timothy syndrome
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA285379

rs_201492706

13 SubmittersRCV000079296 RCV000157124 RCV000212340 RCV000288792 RCV001081791 RCV002336232 RCV003224137 RCV003952497

NM_000719.7(CACNA1C):c.71G>A (p.Arg24His)

SNV
Germline

Chr12:2115245

Conflicting classifications of pathogenicity

Condition: not provided
Timothy syndrome
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA221354

rs_200941579

3 SubmittersRCV000079308 RCV000515652 RCV001048681

NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)

SNV
Germline

Chr3:8745854

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Long QT syndrome
Caveolinopathy
Cardiomyopathy
Cardiovascular phenotype
CAV3-related disorder

Criteria Provided
Conflicting Classifications

CA223856

rs_140575619

14 SubmittersRCV000157842 RCV000723725 RCV001082889 RCV001145924 RCV001171084 RCV002326800 RCV003952529

NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)

SNV
Germline

Chr2:47161851

Pathogenic

Long QT syndrome 1
Long QT syndrome 15
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA186025

rs_398124647

5 SubmittersRCV000143836 RCV000162067 RCV003318349 RCV005532578

NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)

SNV
Germline

Chr2:47161851

Pathogenic

Long QT syndrome 1
Long QT syndrome 15

Criteria Provided
Single Submitter

CA186027

rs_398124647

3 SubmittersRCV000143837 RCV000162068

NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)

SNV
Germline

Chr2:47161748

Pathogenic

Long QT syndrome 15
Long QT syndrome 1

Criteria Provided
Single Submitter

CA186030

rs_398124648

3 SubmittersRCV000162069 RCV000143838

NM_001743.6(CALM2):c.400G>C (p.Asp134His)

SNV
Germline

Chr2:47161744

Pathogenic/Likely pathogenic

Long QT syndrome 15
Long QT syndrome 1

No Assertion Criteria Provided

CA186022

rs_398124650

2 SubmittersRCV000162066 RCV000143839

NM_001743.6(CALM2):c.407A>C (p.Gln136Pro)

SNV
Germline

Chr2:47161737

Pathogenic/Likely pathogenic

Long QT syndrome 15
Long QT syndrome 1

No Assertion Criteria Provided

CA186033

rs_398124649

2 SubmittersRCV000162070 RCV000143840

NM_058216.3(RAD51C):c.706-2A>G

SNV
Germline

Chr17:58709857

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Ovarian neoplasm
Hereditary breast ovarian cancer syndrome
RAD51C-related disorder
Familial ovarian cancer
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA288628

rs_587780259

27 SubmittersRCV000116178 RCV000234445 RCV000254687 RCV000456123 RCV000576612 RCV000785234 RCV001194262 RCV004528814 RCV005600690 RCV005625295

NM_000219.6(KCNE1):c.107G>A (p.Arg36His)

SNV
Germline

Chr21:34449528

Conflicting classifications of pathogenicity

Congenital long QT syndrome
not specified
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA331911

rs_199473351

9 SubmittersRCV000119062 RCV000605056 RCV000590868 RCV000866274 RCV004019655 RCV004777576

NM_000219.6(KCNE1):c.154G>A (p.Gly52Arg)

SNV
Germline

Chr21:34449481

Pathogenic

Congenital long QT syndrome
Long QT syndrome
Long QT syndrome 5

Criteria Provided
Single Submitter

CA331920

rs_199473354

3 SubmittersRCV000119066 RCV001384619 RCV004777579

NM_000219.6(KCNE1):c.155G>C (p.Gly52Ala)

SNV
Germline

Chr21:34449480

Likely pathogenic

Condition: not provided
Long QT syndrome 5
Long QT syndrome

Criteria Provided
Single Submitter

CA231697

rs_17173509

3 SubmittersRCV000119067 RCV004777580 RCV006612220

NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser)

SNV
Germline

Chr21:34449472

Conflicting classifications of pathogenicity

Congenital long QT syndrome
not specified
Long QT syndrome
Condition: not provided
Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5
Cardiovascular phenotype
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA176429

rs_199473644

9 SubmittersRCV000119069 RCV000150858 RCV000463748 RCV000786139 RCV002477299 RCV002399485 RCV004777582

NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys)

SNV
Germline

Chr21:34449436

Conflicting classifications of pathogenicity

Congenital long QT syndrome
not specified
Cardiovascular phenotype
Condition: not provided
Long QT syndrome
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA185017

rs_199473645

10 SubmittersRCV000119072 RCV000156530 RCV000253612 RCV000479909 RCV000705214 RCV003227641

NM_000219.6(KCNE1):c.200G>A (p.Arg67His)

SNV
Germline

Chr21:34449435

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
not specified
Condition: not provided
Cardiovascular phenotype
Jervell and Lange-Nielsen syndrome 2
Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA211451

rs_79654911

11 SubmittersRCV000119073 RCV000148517 RCV000223718 RCV000413332 RCV000621667 RCV001335180 RCV002492404 RCV004777585

NM_000219.6(KCNE1):c.206A>G (p.Lys69Arg)

SNV
Germline

Chr21:34449429

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 5
not specified

Criteria Provided
Conflicting Classifications

CA231702

rs_149338401

7 SubmittersRCV000119074 RCV001213633 RCV004019656 RCV004777586 RCV006456712

NM_000219.6(KCNE1):c.209A>T (p.Lys70Met)

SNV
Germline

Chr21:34449426

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome
Long QT syndrome 5

Criteria Provided
Single Submitter

CA331940

rs_199473646

3 SubmittersRCV000119075 RCV003531965 RCV004777587

NM_000219.6(KCNE1):c.259T>C (p.Trp87Arg)

SNV
Germline

Chr21:34449376

Likely pathogenic

Congenital long QT syndrome
Long QT syndrome 5
Long QT syndrome

Criteria Provided
Single Submitter

CA331960

rs_199473361

3 SubmittersRCV000119087 RCV004777594 RCV006461490

NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp)

SNV
Germline

Chr21:34449343

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA199783

rs_199473362

8 SubmittersRCV000119088 RCV000171560 RCV000619552 RCV000709726 RCV001090977

NM_000219.6(KCNE1):c.29C>T (p.Thr10Met)

SNV
Germline

Chr21:34449606

Conflicting classifications of pathogenicity

Congenital long QT syndrome
Long QT syndrome
not specified
Cardiovascular phenotype
Jervell and Lange-Nielsen syndrome 2
Condition: not provided
KCNE1-related disorder
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA211441

rs_144917638

13 SubmittersRCV000119089 RCV000148515 RCV000208391 RCV000618890 RCV001139931 RCV001529228 RCV004754301 RCV004777595

NM_000219.6(KCNE1):c.325G>A (p.Val109Ile)

SNV
Germline

Chr21:34449310

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Long QT syndrome 5
Cardiovascular phenotype
Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2

Criteria Provided
Conflicting Classifications

CA211437

rs_77442996

10 SubmittersRCV000119090 RCV000148514 RCV000455774 RCV000678944 RCV002444575 RCV002498541

NM_000219.6(KCNE1):c.374C>T (p.Thr125Met)

SNV
Germline

Chr21:34449261

Conflicting classifications of pathogenicity

Congenital long QT syndrome
not specified
Long QT syndrome
Jervell and Lange-Nielsen syndrome 2
Cardiovascular phenotype
Long QT syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA176419

rs_142511345

11 SubmittersRCV000119091 RCV000150856 RCV000148513 RCV000321437 RCV000621107 RCV001094734 RCV001705874

NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg)

SNV
Germline

Chr11:128912012

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA232429

rs_200170681

4 SubmittersRCV000122748 RCV001084390 RCV002381433

NM_000890.5(KCNJ5):c.452G>A (p.Gly151Glu)

SNV
Germline

Chr11:128911725

Pathogenic

Familial hyperaldosteronism type III
Long QT syndrome

Criteria Provided
Single Submitter

CA163131

rs_587777437

2 SubmittersRCV000122751 RCV001210015

NM_001148.6(ANK2):c.1899A>G (p.Leu633=)

SNV
Germline

Chr4:113282692

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA289436

rs_377608305

4 SubmittersRCV000123633 RCV000353560 RCV000246782 RCV001094784

NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=)

SNV
Germline

Chr12:2668968

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA289868

rs_563090568

6 SubmittersRCV000124087 RCV000588823 RCV000617383 RCV001088840

NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=)

SNV
Germline

Chr12:2679566

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA232435

rs_199538058

9 SubmittersRCV000225692 RCV000249460 RCV000724269 RCV001086120

NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=)

SNV
Germline

Chr12:2679776

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA289902

rs_587780881

4 SubmittersRCV000124097 RCV000620596 RCV000726471 RCV002055445

NM_000719.7(CACNA1C):c.5529T>C (p.His1843=)

SNV
Germline

Chr12:2682634

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA245645

rs_371831239

5 SubmittersRCV000225709 RCV000246995 RCV000724037 RCV001086467

NM_033337.3(CAV3):c.201C>A (p.Val67=)

SNV
Germline

Chr3:8745612

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Long QT syndrome
Caveolinopathy

Criteria Provided
Conflicting Classifications

CA184483

rs_201593267

13 SubmittersRCV000156261 RCV000251007 RCV000724964 RCV001079520 RCV001150161

NM_000218.3(KCNQ1):c.811C>T (p.Leu271=)

SNV
Germline

Chr11:2572876

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA008310

rs_189991547

12 SubmittersRCV000150868 RCV000227652 RCV000619503 RCV001083007 RCV001108020 RCV001108021 RCV001108023 RCV001108022 RCV001842425

NM_000218.3(KCNQ1):c.1128+4C>T

SNV
Germline

Chr11:2585311

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA005362

rs_201590918

4 SubmittersRCV000126434 RCV000541478 RCV003162568 RCV003591687

NM_000218.3(KCNQ1):c.1394-8C>T

SNV
Germline

Chr11:2661953

Conflicting classifications of pathogenicity

not specified
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome
Short QT syndrome type 2
Condition: not provided
Long QT syndrome 1
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA005747

rs_371488379

7 SubmittersRCV000155134 RCV000387984 RCV000348591 RCV000317191 RCV000387233 RCV000588614 RCV001094054 RCV001842426

NM_000218.3(KCNQ1):c.1794+11G>A

SNV
Germline

Chr11:2778048

Conflicting classifications of pathogenicity

not specified
Atrial fibrillation, familial, 3
Long QT syndrome 1
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA006420

rs_186188610

5 SubmittersRCV000150872 RCV000286804 RCV000376494 RCV000323117 RCV000372585 RCV002055644

NM_000218.3(KCNQ1):c.1944C>T (p.Val648=)

SNV
Germline

Chr11:2847916

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006611

rs_201698592

6 SubmittersRCV000126442 RCV000631840 RCV001103215 RCV001103216 RCV001105133 RCV001105132 RCV001842429 RCV004019719

NM_000218.3(KCNQ1):c.-5T>C

SNV
Germline

Chr11:2445094

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA007698

rs_532941548

13 SubmittersRCV000155746 RCV000242002 RCV000270523 RCV000310463 RCV000307327 RCV000389967 RCV000725213

NM_000218.3(KCNQ1):c.459G>A (p.Thr153=)

SNV
Germline

Chr11:2528000

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Long QT syndrome
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Cardiovascular phenotype
Long QT syndrome 1
Cardiac arrhythmia
KCNQ1-related disorder

Criteria Provided
Conflicting Classifications

CA007153

rs_148121889

16 SubmittersRCV000126447 RCV000180989 RCV000226452 RCV000291516 RCV000327774 RCV000331279 RCV000617278 RCV001094022 RCV001842431 RCV004544261

NM_000335.5(SCN5A):c.1008G>A (p.Pro336=)

SNV
Germline

Chr3:38606801

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014149

rs_200285003

15 SubmittersRCV000127961 RCV000227498 RCV000618828 RCV001146247 RCV001144346 RCV001146245 RCV001144347 RCV001146244 RCV001146246 RCV001842438 RCV003486659

NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)

SNV
Germline

Chr3:38606765

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014219

rs_370346797

16 SubmittersRCV000151800 RCV000264561 RCV000268314 RCV000271915 RCV000378003 RCV000326956 RCV000620031 RCV000713129 RCV001094767 RCV001842439

NM_000335.5(SCN5A):c.1152C>T (p.Ser384=)

SNV
Germline

Chr3:38606137

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014423

rs_372970828

14 SubmittersRCV000151798 RCV000589765 RCV001146119 RCV001148920 RCV001148921 RCV001148922 RCV001148923 RCV001146118 RCV001842442 RCV002362770

NM_000335.5(SCN5A):c.1755C>T (p.His585=)

SNV
Germline

Chr3:38603847

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015323

rs_201024847

10 SubmittersRCV000127971 RCV000619417 RCV001145576 RCV001149904 RCV001149906 RCV001149907 RCV001149908 RCV001149905 RCV001723703 RCV001842447

NM_000335.5(SCN5A):c.2001C>T (p.Ser667=)

SNV
Germline

Chr3:38598940

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015714

rs_587781161

7 SubmittersRCV000127972 RCV000242713 RCV001145467 RCV001145469 RCV001145465 RCV001145466 RCV001145468 RCV001147410 RCV001842448 RCV005208743

NM_000335.5(SCN5A):c.2437-5C>A

SNV
Germline

Chr3:38586046

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016164

rs_72549411

20 SubmittersRCV000127973 RCV000268911 RCV000294222 RCV000295208 RCV000246661 RCV000383883 RCV000349191 RCV000590814 RCV001094867 RCV001842449 RCV003486661

NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)

SNV
Germline

Chr3:38562505

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017574

rs_41313033

18 SubmittersRCV000151780 RCV000242801 RCV000262735 RCV000277952 RCV000395343 RCV000312012 RCV000369040 RCV000724707 RCV001094936 RCV001842454

NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=)

SNV
Germline

Chr3:38551005

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019169

rs_375752426

8 SubmittersRCV000127988 RCV000251623 RCV000638815 RCV001144215 RCV001144216 RCV001253972 RCV001253971 RCV001144217 RCV001150317 RCV001842457 RCV003539796

NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser)

SNV
Germline

Chr12:2504526

Pathogenic

Ventricular fibrillation, paroxysmal familial, type 1
Condition: not provided
Long QT syndrome
Long QT syndrome 8
Timothy syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA301236

rs_587782933

6 SubmittersRCV000143870 RCV000170768 RCV000805941 RCV003333028 RCV005867923 RCV005403766

NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr)

SNV
Germline

Chr5:173232735

Conflicting classifications of pathogenicity

small Atrial septal defect
Single ventricle
Cardiovascular phenotype
Atrial septal defect 7
Condition: not provided
Long QT syndrome
not specified
6 conditions

Criteria Provided
Conflicting Classifications

CA170785

rs_587782931

8 SubmittersRCV000144179 RCV000617639 RCV000644453 RCV003430707 RCV003318350 RCV005403767 RCV006555483

NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)

SNV
Germline

Chr12:32896548

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular cardiomyopathy
Condition: not provided
Arrhythmogenic right ventricular dysplasia 9
Cardiomyopathy
not specified
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA010651

rs_199601548

20 SubmittersRCV000148732 RCV000183769 RCV000232789 RCV001170221 RCV001844049 RCV002408659 RCV003318353

NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met)

SNV
Germline

Chr17:70176238

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Andersen Tawil syndrome
Short QT syndrome type 3

Criteria Provided
Conflicting Classifications

CA211512

rs_144022753

6 SubmittersRCV000148542 RCV000170991 RCV000621624 RCV001850016

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

SNV
Germline

Chr1:237595526

Conflicting classifications of pathogenicity

not specified
Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2
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_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser)

SNV
Germline

Chr3:38557248

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Brugada syndrome
Brugada syndrome 1
Cardiac arrhythmia
8 conditions
Cardiovascular phenotype
Brugada syndrome 1
Long QT syndrome 3
Dilated cardiomyopathy 1E

Criteria Provided
Conflicting Classifications

CA018074

rs_200034939

12 SubmittersRCV000155812 RCV000183069 RCV000199660 RCV000987202 RCV001842488 RCV005031665 RCV005480325 RCV006257276

NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr)

SNV
Germline

Chr3:38579462

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016979

rs_369704754

9 SubmittersRCV000154839 RCV000729899 RCV000852964 RCV001145076 RCV001147028 RCV001145077 RCV001147029 RCV001147026 RCV001147027 RCV001842482 RCV002321640

NM_000335.5(SCN5A):c.1890+14G>A

SNV
Germline

Chr3:38603698

Conflicting classifications of pathogenicity

not specified
Ventricular fibrillation, paroxysmal familial, type 1
Long QT syndrome 3
Brugada syndrome 1
Progressive familial heart block, type 1A
Sick sinus syndrome 1
Dilated cardiomyopathy 1E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015489

rs_145427253

9 SubmittersRCV000154843 RCV001148341 RCV001148343 RCV001147417 RCV001148339 RCV001148340 RCV001148342 RCV001528799

NM_000335.5(SCN5A):c.486C>T (p.Tyr162=)

SNV
Germline

Chr3:38620968

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018691

rs_45489099

17 SubmittersRCV000151807 RCV000621518 RCV000713146 RCV001144575 RCV001144576 RCV001144577 RCV001144578 RCV001144579 RCV001146500 RCV001842476 RCV003486670

NM_033337.3(CAV3):c.40G>A (p.Val14Ile)

SNV
Germline

Chr3:8733916

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Cardiomyopathy
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA175387

rs_121909281

10 SubmittersRCV000150234 RCV000619202 RCV000770193 RCV000727218 RCV001084128

NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)

SNV
Germline

Chr6:7580052

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004279

rs_138907450

13 SubmittersRCV000154713 RCV000342008 RCV000403440 RCV000404310 RCV000459782 RCV000620854 RCV000723628 RCV000771831 RCV003318357 RCV003998268

NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=)

SNV
Germline

Chr3:38550369

Conflicting classifications of pathogenicity

not specified
Ventricular fibrillation, paroxysmal familial, type 1
Long QT syndrome 3
Sick sinus syndrome 1
Dilated cardiomyopathy 1E
Progressive familial heart block, type 1A
Brugada syndrome
Cardiovascular phenotype
Brugada syndrome 1
Cardiac arrhythmia
Condition: not provided
Cardiomyopathy
SCN5A-related disorder

Criteria Provided
Conflicting Classifications

CA019574

rs_538707712

10 SubmittersRCV000156612 RCV000312367 RCV000259277 RCV000366915 RCV000354052 RCV000398991 RCV000299260 RCV000617544 RCV001094810 RCV001842494 RCV001706057 RCV003149959 RCV004544457

NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=)

SNV
Germline

Chr3:38551548

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018610

rs_45437099

9 SubmittersRCV000151777 RCV000265313 RCV000287693 RCV000327404 RCV000358410 RCV000384404 RCV000859199 RCV001094934 RCV001842465 RCV002336299

NM_000335.5(SCN5A):c.4297-14T>C

SNV
Germline

Chr3:38556592

Conflicting classifications of pathogenicity

not specified
Brugada syndrome 1
Sick sinus syndrome 1
Progressive familial heart block, type 1A
Long QT syndrome 3
Dilated cardiomyopathy 1E
Ventricular fibrillation, paroxysmal familial, type 1
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA018116

rs_56104887

12 SubmittersRCV000151778 RCV001149154 RCV001149155 RCV001150659 RCV001150660 RCV001150661 RCV001150662 RCV001528984 RCV001842466

NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=)

SNV
Germline

Chr3:38579475

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016945

rs_111422496

10 SubmittersRCV000154840 RCV000620140 RCV001147030 RCV001147032 RCV001147031 RCV001147033 RCV001147918 RCV001147919 RCV001675642 RCV001842483 RCV003486691

NM_000335.5(SCN5A):c.2437-13C>T

SNV
Germline

Chr3:38586054

Conflicting classifications of pathogenicity

not specified
Dilated cardiomyopathy 1E
Sick sinus syndrome 1
Progressive familial heart block, type 1A
Long QT syndrome 3
Ventricular fibrillation, paroxysmal familial, type 1
Brugada syndrome 1
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA016156

rs_45455099

12 SubmittersRCV000151789 RCV001149686 RCV001149688 RCV001149690 RCV001149691 RCV001149687 RCV001149689 RCV001529051 RCV001842471

NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)

SNV
Germline

Chr6:7585178

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA007320

rs_116888866

19 SubmittersRCV000150581 RCV000157210 RCV000245063 RCV000262145 RCV000319713 RCV000369032 RCV000490472 RCV000771821 RCV000987654 RCV001086541 RCV001704081 RCV003318355 RCV003945184

NM_004415.4(DSP):c.273+5G>A

SNV
Germline

Chr6:7555825

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Long QT syndrome
Primary dilated cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular cardiomyopathy
Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cervical cancer
Familial cancer of breast
Colon adenocarcinoma

Criteria Provided
Conflicting Classifications

CA005542

rs_200473206

19 SubmittersRCV000150557 RCV000157211 RCV000157212 RCV000232421 RCV000239152 RCV000589518 RCV000776291 RCV001160815 RCV001162435 RCV001162436 RCV002433645 RCV002492553 RCV003989330 RCV005888324 RCV005888322 RCV005888323

NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=)

SNV
Germline

Chr11:2847772

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA006446

rs_147091980

13 SubmittersRCV000150874 RCV000205176 RCV000251316 RCV001103103 RCV001105014 RCV001105015 RCV001103104 RCV001675635 RCV001842464

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

SNV
Germline

Chr14:23403415

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA181127

rs_140660481

13 SubmittersRCV000154662 RCV000172034 RCV000769431 RCV000999591 RCV001083211 RCV001256735 RCV002408687 RCV003318356 RCV004765314

NM_000218.3(KCNQ1):c.900A>C (p.Ala300=)

SNV
Germline

Chr11:2572965

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Atrial fibrillation, familial, 3
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
KCNQ1-related disorder

Criteria Provided
Conflicting Classifications

CA008569

rs_727504769

10 SubmittersRCV000156082 RCV000227118 RCV001104723 RCV001104724 RCV001104725 RCV001104726 RCV001711425 RCV001842489 RCV002372021 RCV004544447

NM_000218.3(KCNQ1):c.225T>C (p.Val75=)

SNV
Germline

Chr11:2445323

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype
Condition: not provided
KCNQ1-related disorder

Criteria Provided
Conflicting Classifications

CA006736

rs_367817352

6 SubmittersRCV000150862 RCV000458474 RCV000618148 RCV003129790 RCV004544353

NM_000218.3(KCNQ1):c.1394-8C>A

SNV
Germline

Chr11:2661953

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA005740

rs_371488379

4 SubmittersRCV000150871 RCV001231663 RCV005600748 RCV006547645

NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met)

SNV
Germline

Chr12:2664914

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA233599

rs_727503835

5 SubmittersRCV000468006 RCV000723807 RCV003298161

NM_000719.7(CACNA1C):c.1218-6C>T

SNV
Germline

Chr12:2512806

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA233580

rs_727503833

4 SubmittersRCV000152899 RCV002514943

NM_000719.7(CACNA1C):c.3049-10C>T

SNV
Germline

Chr12:2605669

Conflicting classifications of pathogenicity

Condition: not provided
Congestive heart failure
Long QT syndrome
not specified
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA233581

rs_186741807

10 SubmittersRCV000587094 RCV000852663 RCV001081172 RCV001706014 RCV003917489

NM_000719.7(CACNA1C):c.4140+4G>A

SNV
Germline

Chr12:2653904

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA233598

rs_111442547

6 SubmittersRCV000152903 RCV000617283 RCV000631662

NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=)

SNV
Germline

Chr12:2679458

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
CACNA1C-related disorder
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA233607

rs_541967618

6 SubmittersRCV000152905 RCV001089113 RCV003907440 RCV004019830 RCV005888387

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

SNV
Germline

Chr1:237454416

Conflicting classifications of pathogenicity

Long QT syndrome
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
Condition: not provided
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA007818

rs_371878264

6 SubmittersRCV000157443 RCV002478470 RCV002381509 RCV002516363 RCV005051754 RCV006547667

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

SNV
Germline

Chr1:237500896

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA008789

rs_200121281

8 SubmittersRCV000157447 RCV000590785 RCV001191829 RCV002453531 RCV003103738 RCV003998338

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_024334.3(TMEM43):c.644A>C (p.His215Pro)

SNV
Germline

Chr3:14134830

Conflicting classifications of pathogenicity

Long QT syndrome
Arrhythmogenic right ventricular dysplasia 5
Condition: not provided
Cardiomyopathy
Cardiovascular phenotype
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Arrhythmogenic right ventricular dysplasia 5
Auditory neuropathy, autosomal dominant 3
not specified

Criteria Provided
Conflicting Classifications

CA024729

rs_730880225

11 SubmittersRCV000157521 RCV000537954 RCV000756786 RCV001176788 RCV002362842 RCV002492612 RCV006268633

NM_001148.6(ANK2):c.6206G>A (p.Arg2069His)

SNV
Germline

Chr4:113354824

Conflicting classifications of pathogenicity

Cardiac arrest
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA346171

rs_149645600

14 SubmittersRCV000157109 RCV000227317 RCV000251053 RCV000625124 RCV001699212 RCV005404283

NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter)

SNV
Germline

Chr7:150950336

Pathogenic

Long QT syndrome 2
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Congenital long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006370

rs_189014161

11 SubmittersRCV000157266 RCV000181843 RCV000473013 RCV000617781 RCV004017439

NM_000238.4(KCNH2):c.1067G>A (p.Arg356His)

SNV
Germline

Chr7:150957352

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA004196

rs_730880118

7 SubmittersRCV000157263 RCV000249792 RCV000729426 RCV001842496

NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter)

SNV
Germline

Chr7:150958290

Pathogenic

Long QT syndrome 2
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA008681

rs_730880116

4 SubmittersRCV000157258 RCV000412861 RCV000545572 RCV002362837

NM_005751.5(AKAP9):c.1489G>T (p.Glu497Ter)

SNV
Germline

Chr7:92001406

Likely pathogenic

Long QT syndrome 11

No Assertion Criteria Provided

CA346157

rs_730880043

1 SubmittersRCV000157100

NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr)

SNV
Germline

Chr7:92014296

Conflicting classifications of pathogenicity

Ventricular fibrillation
Condition: not provided
Long QT syndrome
Long QT syndrome 11
Cardiovascular phenotype
not specified
AKAP9-related disorder

Criteria Provided
Conflicting Classifications

CA236864

rs_139965373

10 SubmittersRCV000157101 RCV000171716 RCV000233886 RCV000477762 RCV000621526 RCV001192969 RCV003975223

NM_005751.5(AKAP9):c.7314A>T (p.Glu2438Asp)

SNV
Germline

Chr7:92079447

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA346160

rs_138468216

4 SubmittersRCV000157103 RCV001565846 RCV002381505

NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile)

SNV
Germline

Chr7:92083354

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 11
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA346163

rs_543634397

5 SubmittersRCV000157104 RCV002484959 RCV006342132

NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro)

SNV
Germline

Chr12:2593261

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Timothy syndrome

Criteria Provided
Conflicting Classifications

CA346203

rs_730880056

4 SubmittersRCV000157123 RCV000588534 RCV000678964

NM_000719.7(CACNA1C):c.5444G>C (p.Arg1815Thr)

SNV
Germline

Chr12:2679796

Conflicting classifications of pathogenicity

Long QT syndrome
Brugada syndrome 3
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA346212

rs_374425919

5 SubmittersRCV000157125 RCV004668814 RCV004808596 RCV005791826

NM_000719.7(CACNA1C):c.5599C>T (p.Arg1867Trp)

SNV
Germline

Chr12:2685761

Conflicting classifications of pathogenicity

Ventricular tachycardia
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA346221

rs_369421219

3 SubmittersRCV000157126 RCV001218818 RCV002345528

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

SNV
Germline

Chr14:23389478

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA346483

rs_368588052

6 SubmittersRCV000157338 RCV000463802 RCV001545949 RCV002362841 RCV002492608 RCV003318358

NM_017636.4(TRPM4):c.1082T>G (p.Leu361Arg)

SNV
Germline

Chr19:49172040

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Progressive familial heart block type IB
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA346737

rs_148763371

5 SubmittersRCV000157548 RCV000520454 RCV001087683 RCV002415687

NM_003098.3(SNTA1):c.821G>A (p.Arg274Gln)

SNV
Germline

Chr20:33412663

Conflicting classifications of pathogenicity

Brugada syndrome
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA346671

rs_137986136

3 SubmittersRCV000157506 RCV001058598 RCV002408707

NM_003098.3(SNTA1):c.784A>C (p.Thr262Pro)

SNV
Germline

Chr20:33412700

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 12

Criteria Provided
Conflicting Classifications

CA235716

rs_200316080

6 SubmittersRCV000157505 RCV000171082 RCV000225771 RCV000618960 RCV003224177

NM_003098.3(SNTA1):c.589C>T (p.Arg197Trp)

SNV
Germline

Chr20:33417831

Conflicting classifications of pathogenicity

Ventricular fibrillation, paroxysmal familial, type 1
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA346668

rs_530603992

4 SubmittersRCV000157504 RCV000413113 RCV000529567 RCV000621647

NM_033337.3(CAV3):c.28G>A (p.Glu10Lys)

SNV
Germline

Chr3:8733904

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA295956

rs_139786391

3 SubmittersRCV000157844 RCV000631607 RCV002433693

NM_033337.3(CAV3):c.402G>A (p.Ala134=)

SNV
Germline

Chr3:8745813

Conflicting classifications of pathogenicity

not specified
Cardiomyopathy
Long QT syndrome
Cardiovascular phenotype
CAV3-related disorder

Criteria Provided
Conflicting Classifications

CA295931

rs_559206877

5 SubmittersRCV000157832 RCV000769180 RCV001037438 RCV003162658 RCV003965173

NM_033337.3(CAV3):c.442C>T (p.Arg148Trp)

SNV
Germline

Chr3:8745853

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiomyopathy
Caveolinopathy
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA295950

rs_730880422

8 SubmittersRCV000157841 RCV000223776 RCV001171083 RCV001144022 RCV001850194

NM_006888.6(CALM1):c.389A>G (p.Asp130Gly)

SNV
Germline

Chr14:90404482

Pathogenic/Likely pathogenic

Long QT syndrome 14
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA186013

rs_730882252

3 SubmittersRCV000162062 RCV001781506

NM_006888.6(CALM1):c.426C>G (p.Phe142Leu)

SNV
Germline

Chr14:90404693

Pathogenic

Long QT syndrome 14

Criteria Provided
Single Submitter

CA186015

rs_199744595

2 SubmittersRCV000162063

NM_006888.6(CALM1):c.268T>C (p.Phe90Leu)

SNV
Germline

Chr14:90403951

Likely pathogenic

Long QT syndrome 14

Criteria Provided
Single Submitter

CA186017

rs_730882253

2 SubmittersRCV000162064

NM_001743.6(CALM2):c.287A>T (p.Asp96Val)

SNV
Germline

Chr2:47161857

Pathogenic

Long QT syndrome 15
Condition: not provided
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA186019

rs_730882254

3 SubmittersRCV000162065 RCV001547926 RCV001850284

NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys)

SNV
Germline

Chr4:113355750

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Brugada syndrome
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA236944

rs_141191319

12 SubmittersRCV000171744 RCV000426638 RCV000621823 RCV000625125 RCV000852972 RCV001082214

NM_003098.3(SNTA1):c.1442C>T (p.Ser481Leu)

SNV
Germline

Chr20:33408583

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 12
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA334157

rs_370531842

4 SubmittersRCV000168024 RCV001136715 RCV001527060 RCV002390400

NM_000335.5(SCN5A):c.1338+2T>A

SNV
Germline

Chr3:38605949

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Long QT syndrome 3
Cardiac arrhythmia
Brugada syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA014714

rs_786204839

8 SubmittersRCV000169744 RCV000241713 RCV001542742 RCV003591693 RCV004804781

NM_001148.6(ANK2):c.669+3A>G

SNV
Germline

Chr4:113237175

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA300681

rs_370475820

3 SubmittersRCV000170647 RCV000620104 RCV001084450

NM_001148.6(ANK2):c.1136G>T (p.Arg379Leu)

SNV
Germline

Chr4:113255880

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
ANK2-related disorder

Criteria Provided
Conflicting Classifications

CA301011

rs_186264035

6 SubmittersRCV000170726 RCV000621881 RCV000766395 RCV000793279 RCV002485061 RCV004745249

NM_001148.6(ANK2):c.1252G>A (p.Val418Met)

SNV
Germline

Chr4:113258113

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA300780

rs_760073103

3 SubmittersRCV000170674 RCV002516546 RCV003165343

NM_001148.6(ANK2):c.1773T>C (p.Ser591=)

SNV
Germline

Chr4:113277926

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA300687

rs_374775005

5 SubmittersRCV000170649 RCV000549115 RCV000726588 RCV002408734

NM_001148.6(ANK2):c.1910C>T (p.Ala637Val)

SNV
Germline

Chr4:113282703

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Primary dilated cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA300815

rs_150488571

4 SubmittersRCV000170681 RCV000461769 RCV000852969 RCV002408736

NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser)

SNV
Germline

Chr4:113282853

Conflicting classifications of pathogenicity

not specified
Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Brugada syndrome

Criteria Provided
Conflicting Classifications

CA199873

rs_29372

8 SubmittersRCV000171786 RCV000477910 RCV000700217 RCV001711458 RCV002415721 RCV005365101

NM_001148.6(ANK2):c.2144C>T (p.Thr715Ile)

SNV
Germline

Chr4:113287669

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA300692

rs_199681788

4 SubmittersRCV000631636 RCV001721096 RCV002426806

NM_001148.6(ANK2):c.2160T>A (p.Asp720Glu)

SNV
Germline

Chr4:113287685

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA300697

rs_748835902

3 SubmittersRCV000170651 RCV001060008 RCV002415719

NM_001148.6(ANK2):c.2443G>A (p.Val815Ile)

SNV
Germline

Chr4:113293506

Conflicting classifications of pathogenicity

not specified
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA300702

rs_753719949

3 SubmittersRCV000170652 RCV003532007

NM_001148.6(ANK2):c.2806C>G (p.Leu936Val)

SNV
Germline

Chr4:113318526

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA300835

rs_786205725

4 SubmittersRCV000170685 RCV002247576 RCV004020026 RCV005089853

NM_001148.6(ANK2):c.3067G>A (p.Gly1023Arg)

SNV
Germline

Chr4:113330412

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA300863

rs_151127289

6 SubmittersRCV000170691 RCV000321541 RCV001094870 RCV001358725 RCV002444683

NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala)

SNV
Germline

Chr4:113330419

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
not specified
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA300868

rs_773532854

7 SubmittersRCV000170692 RCV000376133 RCV000621420 RCV001001077 RCV001094871

NM_001148.6(ANK2):c.3526G>T (p.Val1176Leu)

SNV
Germline

Chr4:113335992

Conflicting classifications of pathogenicity

Condition: not provided
Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
ANK2-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA300883

rs_777113752

6 SubmittersRCV000170695 RCV001196272 RCV001852036 RCV003965225 RCV004639158

NM_001148.6(ANK2):c.3931G>A (p.Val1311Ile)

SNV
Germline

Chr4:113341725

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA300898

rs_34065266

4 SubmittersRCV000170698 RCV000467208 RCV000619169 RCV001175061

NM_001148.6(ANK2):c.4016C>T (p.Pro1339Leu)

SNV
Germline

Chr4:113341810

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Autism spectrum disorder
Long QT syndrome 4

Criteria Provided
Conflicting Classifications

CA300908

rs_371357815

5 SubmittersRCV000170700 RCV000200456 RCV001260348 RCV002354415 RCV005863015

NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met)

SNV
Germline

Chr4:113345961

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Cardiomyopathy
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA300913

rs_142534126

7 SubmittersRCV000170701 RCV000250831 RCV000698260 RCV000852553 RCV002478528

NM_001148.6(ANK2):c.4835C>T (p.Thr1612Ile)

SNV
Germline

Chr4:113353453

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA249388

rs_765274871

7 SubmittersRCV000203177 RCV000766405 RCV000764526 RCV001041212 RCV005652330

NM_001148.6(ANK2):c.10702C>T (p.Arg3568Trp)

SNV
Germline

Chr4:113360843

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA300923

rs_72556376

4 SubmittersRCV000551336 RCV000620429 RCV001704237 RCV002478529

NM_001148.6(ANK2):c.10703G>A (p.Arg3568Gln)

SNV
Germline

Chr4:113360844

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA300722

rs_142612379

5 SubmittersRCV000170657 RCV000620201 RCV000631720 RCV001150175

NM_001148.6(ANK2):c.10889-8T>A

SNV
Germline

Chr4:113365031

Conflicting classifications of pathogenicity

not specified
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA300728

rs_770001257

2 SubmittersRCV000170660 RCV000540353

NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn)

SNV
Germline

Chr4:113367652

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Supraventricular tachycardia
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
ANK2-related disorder

Criteria Provided
Conflicting Classifications

CA235660

rs_199549660

10 SubmittersRCV000170709 RCV000185494 RCV000852558 RCV001082474 RCV001144037 RCV002426808 RCV003954994

NM_001148.6(ANK2):c.11230A>C (p.Thr3744Pro)

SNV
Germline

Chr4:113367763

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA300948

rs_372212045

4 SubmittersRCV000170711 RCV001224090 RCV002433733 RCV002485060

NM_001148.6(ANK2):c.11354A>G (p.Gln3785Arg)

SNV
Germline

Chr4:113369549

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided
Cardiac arrhythmia, ankyrin-B-related
not specified
ANK2-related disorder

Criteria Provided
Conflicting Classifications

CA300953

rs_150808807

9 SubmittersRCV000243482 RCV000529321 RCV000786100 RCV001144040 RCV001804900 RCV003422063

NM_001148.6(ANK2):c.11470C>G (p.Pro3824Ala)

SNV
Germline

Chr4:113369665

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA300963

rs_747961230

5 SubmittersRCV000170715 RCV000703371 RCV001145850 RCV002453575

NM_001148.6(ANK2):c.11557G>A (p.Asp3853Asn)

SNV
Germline

Chr4:113369752

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA300978

rs_754642933

4 SubmittersRCV000170718 RCV000804516 RCV002354416 RCV002492696

NM_001148.6(ANK2):c.11594A>G (p.Asp3865Gly)

SNV
Germline

Chr4:113369789

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235665

rs_140606121

5 SubmittersRCV000170744 RCV000530694 RCV000618820

NM_005751.5(AKAP9):c.119G>A (p.Arg40Lys)

SNV
Germline

Chr7:91973781

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 11
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA300645

rs_755408339

4 SubmittersRCV001711455 RCV003137699 RCV003352791 RCV006461733

NM_005751.5(AKAP9):c.235C>T (p.Pro79Ser)

SNV
Germline

Chr7:91973897

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA300648

rs_768026366

3 SubmittersRCV000170626 RCV000686763 RCV003278674

NM_005751.5(AKAP9):c.289C>G (p.Gln97Glu)

SNV
Germline

Chr7:91973951

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA300654

rs_786205712

3 SubmittersRCV000170628 RCV001363635 RCV003162726

NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp)

SNV
Germline

Chr7:91992989

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Brugada syndrome 1
Long QT syndrome 11
Catecholaminergic polymorphic ventricular tachycardia
not specified

Criteria Provided
Conflicting Classifications

CA235652

rs_144888041

13 SubmittersRCV000170646 RCV000197421 RCV000242948 RCV000584786 RCV000624949 RCV000853011 RCV001706104

NM_005751.5(AKAP9):c.1158A>T (p.Lys386Asn)

SNV
Germline

Chr7:92001075

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235631

rs_142673316

4 SubmittersRCV000170630 RCV000185480 RCV001071429 RCV002362867

NM_005751.5(AKAP9):c.1538A>G (p.Lys513Arg)

SNV
Germline

Chr7:92001455

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA300660

rs_786205713

3 SubmittersRCV000170632 RCV002515223 RCV003162727

NM_005751.5(AKAP9):c.4814C>T (p.Thr1605Met)

SNV
Germline

Chr7:92040795

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA300602

rs_777627168

4 SubmittersRCV000553980 RCV000786089 RCV002336389

NM_005751.5(AKAP9):c.4985C>T (p.Ala1662Val)

SNV
Germline

Chr7:92042113

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Long QT syndrome
Cardiovascular phenotype
AKAP9-related disorder

Criteria Provided
Conflicting Classifications

CA300611

rs_149244653

5 SubmittersRCV000170612 RCV001704235 RCV001850429 RCV002336391 RCV003965223

NM_005751.5(AKAP9):c.5117A>G (p.Asp1706Gly)

SNV
Germline

Chr7:92042726

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA300615

rs_139468199

3 SubmittersRCV000170614 RCV000472477 RCV000620424

NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr)

SNV
Germline

Chr7:92097077

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Long QT syndrome 11
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA235637

rs_140470576

12 SubmittersRCV000170637 RCV000233623 RCV000624955 RCV000617996 RCV002469041

NM_005751.5(AKAP9):c.10319T>C (p.Met3440Thr)

SNV
Germline

Chr7:92097278

Conflicting classifications of pathogenicity

not specified
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA300633

rs_751924200

2 SubmittersRCV000170620 RCV001850430

NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val)

SNV
Germline

Chr7:92098165

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA235649

rs_139046510

10 SubmittersRCV000170642 RCV000185490 RCV000250287 RCV000272838 RCV000624956

NM_005751.5(AKAP9):c.11519T>C (p.Ile3840Thr)

SNV
Germline

Chr7:92107395

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA300642

rs_145675748

3 SubmittersRCV000170624 RCV000538694 RCV002345571

NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg)

SNV
Germline

Chr11:118137082

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 10
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302222

rs_201454653

9 SubmittersRCV000994731 RCV001227229 RCV002362871

NM_174934.4(SCN4B):c.194A>T (p.His65Leu)

SNV
Germline

Chr11:118145097

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome 10
not specified

Criteria Provided
Conflicting Classifications

CA235713

rs_112363898

5 SubmittersRCV000171074 RCV000619132 RCV001078793 RCV006452473

NM_174934.4(SCN4B):c.22G>A (p.Gly8Ser)

SNV
Germline

Chr11:118152652

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Long QT syndrome 10
SCN4B-related disorder

Criteria Provided
Conflicting Classifications

CA235710

rs_149868494

7 SubmittersRCV000171073 RCV000185523 RCV000619368 RCV001079013 RCV003937533

NM_174934.4(SCN4B):c.18C>A (p.Asp6Glu)

SNV
Germline

Chr11:118152656

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome 10
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA302213

rs_149979176

7 SubmittersRCV000619472 RCV001216410 RCV001698986 RCV005406881

NM_000890.5(KCNJ5):c.10G>A (p.Asp4Asn)

SNV
Germline

Chr11:128911283

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA302082

rs_529755922

4 SubmittersRCV000170998 RCV001088885 RCV002426812 RCV005417985

NM_000890.5(KCNJ5):c.133G>A (p.Glu45Lys)

SNV
Germline

Chr11:128911406

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302085

rs_372447456

4 SubmittersRCV000560761 RCV001704242 RCV002381545

NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr)

SNV
Germline

Chr12:2053564

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Brugada syndrome 3
Timothy syndrome
Long QT syndrome 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA301807

rs_761378545

5 SubmittersRCV000170850 RCV000528382 RCV002478534 RCV003165345

NM_000719.7(CACNA1C):c.50G>A (p.Gly17Asp)

SNV
Germline

Chr12:2115224

Conflicting classifications of pathogenicity

not specified
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA301132

rs_747083495

2 SubmittersRCV000170754 RCV000706157

NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr)

SNV
Germline

Chr12:2115250

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Timothy syndrome

Criteria Provided
Conflicting Classifications

CA301783

rs_369483452

4 SubmittersRCV000631577 RCV002399603 RCV004799184

NM_000719.7(CACNA1C):c.91A>G (p.Asn31Asp)

SNV
Germline

Chr12:2115265

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA301567

rs_531598856

2 SubmittersRCV000170816 RCV000229376

NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser)

SNV
Germline

Chr12:2115272

Conflicting classifications of pathogenicity

Condition: not provided
Brugada syndrome 3
Timothy syndrome
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA301575

rs_535608443

4 SubmittersRCV000170817 RCV000765083 RCV001036246 RCV002381543

NM_000719.7(CACNA1C):c.101C>T (p.Ala34Val)

SNV
Germline

Chr12:2115275

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA301583

rs_551396698

4 SubmittersRCV000170818 RCV002515227 RCV003298200

NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr)

SNV
Germline

Chr12:2115376

Conflicting classifications of pathogenicity

Timothy syndrome
Condition: not provided
not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA301799

rs_752000790

9 SubmittersRCV000357698 RCV000761812 RCV000781192 RCV000794589 RCV002415722

NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met)

SNV
Germline

Chr12:2115410

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 8
Brugada syndrome 3
Timothy syndrome

Criteria Provided
Conflicting Classifications

CA301607

rs_749031775

4 SubmittersRCV000170821 RCV000631657 RCV002453579 RCV002485066

NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)

SNV
Germline

Chr12:2486257

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
not specified
Long QT syndrome
Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Timothy syndrome

Criteria Provided
Conflicting Classifications

CA301220

rs_201756421

14 SubmittersRCV000170766 RCV000247705 RCV000212338 RCV001082904 RCV003224184 RCV004813071

NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg)

SNV
Germline

Chr12:2504538

Pathogenic/Likely pathogenic

Condition: not provided
Timothy syndrome
Long QT syndrome
Long QT syndrome 8
Brugada syndrome 3
Timothy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA301241

rs_786205745

5 SubmittersRCV000170769 RCV000192272 RCV001385670 RCV002498853

NM_000719.7(CACNA1C):c.1255G>A (p.Gly419Arg)

SNV
Germline

Chr12:2512849

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA301703

rs_786205776

2 SubmittersRCV000170836 RCV002517641

NM_000719.7(CACNA1C):c.1453G>A (p.Glu485Lys)

SNV
Germline

Chr12:2550005

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA301268

rs_763065970

3 SubmittersRCV000505746 RCV001325303 RCV002390404

NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln)

SNV
Germline

Chr12:2556954

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Wolff-Parkinson-White pattern
Cardiovascular phenotype
Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures

Criteria Provided
Conflicting Classifications

CA301284

rs_373335068

5 SubmittersRCV000170777 RCV000631680 RCV000656158 RCV002390405 RCV005008094

NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp)

SNV
Germline

Chr12:2556955

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA301719

rs_760888275

4 SubmittersRCV000170838 RCV000618192 RCV001084353

NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln)

SNV
Germline

Chr12:2556956

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Long QT syndrome
Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA301292

rs_369255950

5 SubmittersRCV000170778 RCV000618842 RCV000706039 RCV002485065 RCV003144147

NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys)

SNV
Germline

Chr12:2566465

Pathogenic

Condition: not provided
Long QT syndrome
Long QT syndrome 8
Timothy syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA301308

rs_786205748

8 SubmittersRCV000170780 RCV000232889 RCV002250585 RCV002287377 RCV002399602 RCV006456771

NM_000719.7(CACNA1C):c.1693G>A (p.Ala565Thr)

SNV
Germline

Chr12:2567592

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA301316

rs_777945001

4 SubmittersRCV000170781 RCV000554639 RCV004601119 RCV005055669

NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile)

SNV
Germline

Chr12:2567682

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
CACNA1C-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA301096

rs_201392574

6 SubmittersRCV000170745 RCV000471623 RCV000621118 RCV003947452 RCV005434666

NM_000719.7(CACNA1C):c.1864G>A (p.Val622Ile)

SNV
Germline

Chr12:2567763

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA301340

rs_768270021

3 SubmittersRCV000170784 RCV000619791 RCV000805998

NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys)

SNV
Germline

Chr12:2585891

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA301380

rs_774002530

4 SubmittersRCV000170789 RCV000766674 RCV001852042 RCV002426809

NM_000719.7(CACNA1C):c.2566G>A (p.Gly856Ser)

SNV
Germline

Chr12:2593248

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA301388

rs_145549773

3 SubmittersRCV000170790 RCV000462694 RCV002426810

NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His)

SNV
Germline

Chr12:2593255

Pathogenic/Likely pathogenic

Long QT syndrome
Long QT syndrome 8
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA301396

rs_786205753

10 SubmittersRCV000550877 RCV000782180 RCV001509415 RCV002453577

NM_000719.7(CACNA1C):c.2578C>G (p.Arg860Gly)

SNV
Germline

Chr12:2593260

Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA301743

rs_758786846

3 SubmittersRCV000170841 RCV004020034 RCV006461736

NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln)

SNV
Germline

Chr12:2593261

Conflicting classifications of pathogenicity

Wolff-Parkinson-White pattern
Timothy syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA301404

rs_730880056

7 SubmittersRCV000656216 RCV000853602 RCV001057570 RCV001704240 RCV002453578

NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His)

SNV
Germline

Chr12:2595894

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Autism spectrum disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA301420

rs_786205755

4 SubmittersRCV000170794 RCV000465144 RCV003126565 RCV005404305

NM_000719.7(CACNA1C):c.3220A>G (p.Ile1074Val)

SNV
Germline

Chr12:2606994

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA301751

rs_786205779

3 SubmittersRCV000170842 RCV001337841 RCV002444686

NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn)

SNV
Germline

Chr12:2607069

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA301759

rs_771549676

3 SubmittersRCV000170843 RCV000687893 RCV002321682

NM_000719.7(CACNA1C):c.3631A>G (p.Lys1211Glu)

SNV
Germline

Chr12:2610613

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA301454

rs_786205759

3 SubmittersRCV000170799 RCV003362707 RCV006555534

NM_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val)

SNV
Germline

Chr12:2633683

Conflicting classifications of pathogenicity

not specified
Brugada syndrome 3
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Timothy syndrome
Long QT syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA301113

rs_114851656

5 SubmittersRCV000170748 RCV003224183 RCV004808608

NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr)

SNV
Germline

Chr12:2634330

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA301467

rs_367895193

3 SubmittersRCV000170802 RCV001085234 RCV002316983

NM_000719.7(CACNA1C):c.3946-12G>A

SNV
Germline

Chr12:2651628

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
CACNA1C-related disorder
not specified
Intellectual disability

Criteria Provided
Conflicting Classifications

CA301127

rs_41276706

10 SubmittersRCV000170751 RCV002054021 RCV003965226 RCV005237633 RCV005625358

NM_000719.7(CACNA1C):c.4101C>G (p.Ile1367Met)

SNV
Germline

Chr12:2653861

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA301775

rs_201174821

2 SubmittersRCV003482043 RCV006478674

NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr)

SNV
Germline

Chr12:2677841

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Timothy syndrome
Cardiovascular phenotype
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA301559

rs_368700869

6 SubmittersRCV000170815 RCV000631689 RCV000853597 RCV002336394 RCV003416061

NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala)

SNV
Germline

Chr12:2679472

Conflicting classifications of pathogenicity

Condition: not provided
Timothy syndrome
Brugada syndrome 3
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA301148

rs_531161884

4 SubmittersRCV000170756 RCV000763836 RCV001086159 RCV002345572

NM_000719.7(CACNA1C):c.5144G>A (p.Arg1715Gln)

SNV
Germline

Chr12:2679496

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA301623

rs_376706496

3 SubmittersRCV000170823 RCV000705429 RCV002336395

NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val)

SNV
Germline

Chr12:2679550

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Brugada syndrome 3
Timothy syndrome
Long QT syndrome 8
not specified

Criteria Provided
Conflicting Classifications

CA301631

rs_201049603

5 SubmittersRCV000170824 RCV000694981 RCV002336396 RCV002485067 RCV005889659

NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys)

SNV
Germline

Chr12:2679690

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Brugada syndrome 3
Timothy syndrome
Long QT syndrome 8
not specified

Criteria Provided
Conflicting Classifications

CA301647

rs_371760034

5 SubmittersRCV000170826 RCV000463099 RCV002345574 RCV002492701 RCV003488417

NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln)

SNV
Germline

Chr12:2688547

Conflicting classifications of pathogenicity

Long QT syndrome
not specified
Cardiovascular phenotype
Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA301180

rs_199776761

5 SubmittersRCV000631643 RCV001420870 RCV002354417 RCV002485063 RCV003416060

NM_000719.7(CACNA1C):c.5929G>A (p.Val1977Ile)

SNV
Germline

Chr12:2688591

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA301188

rs_786205741

3 SubmittersRCV000170761 RCV001050965 RCV003362706

NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe)

SNV
Germline

Chr12:2688637

Conflicting classifications of pathogenicity

Long QT syndrome
Brugada syndrome
Condition: not provided
Cardiovascular phenotype
Brugada syndrome 3
Timothy syndrome
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA301196

rs_375818733

5 SubmittersRCV000475281 RCV000622425 RCV001812147 RCV002354418 RCV002478532

NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr)

SNV
Germline

Chr12:2688712

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA301204

rs_786205742

4 SubmittersRCV000170763 RCV002354419 RCV002515226 RCV003389757

NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala)

SNV
Germline

Chr20:33410284

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Wolff-Parkinson-White pattern
Long QT syndrome
Long QT syndrome 12
not specified

Criteria Provided
Conflicting Classifications

CA302282

rs_147964932

6 SubmittersRCV000171101 RCV000243691 RCV000656217 RCV000796538 RCV001138961 RCV003155101

NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser)

SNV
Germline

Chr20:33412697

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Long QT syndrome
Congenital long QT syndrome
Long QT syndrome 12
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235719

rs_150576530

8 SubmittersRCV000171097 RCV000185526 RCV000206185 RCV000266318 RCV000678949 RCV002408740

NM_003098.3(SNTA1):c.677G>A (p.Cys226Tyr)

SNV
Germline

Chr20:33417743

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Cardiovascular phenotype
SNTA1-related disorder

Criteria Provided
Conflicting Classifications

CA302264

rs_34479952

5 SubmittersRCV000171094 RCV000558137 RCV000780741 RCV002362873 RCV003975245

NM_003098.3(SNTA1):c.556G>A (p.Gly186Ser)

SNV
Germline

Chr20:33417864

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 12

Criteria Provided
Conflicting Classifications

CA302330

rs_200755101

4 SubmittersRCV000171118 RCV000631640 RCV002345577 RCV002485083

NM_003098.3(SNTA1):c.526T>C (p.Phe176Leu)

SNV
Germline

Chr20:33417894

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 12
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302258

rs_781703999

4 SubmittersRCV000171092 RCV000765488 RCV001852056 RCV003298203

NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn)

SNV
Germline

Chr20:33438897

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome 1
Long QT syndrome
Long QT syndrome 12
not specified

Criteria Provided
Conflicting Classifications

CA235722

rs_141724500

7 SubmittersRCV000171113 RCV000618648 RCV000990300 RCV001079048 RCV001143394 RCV005889665

NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala)

SNV
Germline

Chr20:33443334

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
not specified
Cardiovascular phenotype
Long QT syndrome 12

Criteria Provided
Conflicting Classifications

CA302252

rs_766925398

7 SubmittersRCV000540961 RCV000656979 RCV000781872 RCV002433740 RCV002492708

NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg)

SNV
Germline

Chr20:33443461

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Long QT syndrome 12
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302327

rs_786205848

6 SubmittersRCV000171117 RCV000705669 RCV001197325 RCV002399610

NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn)

SNV
Germline

Chr20:33443493

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Long QT syndrome 12
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA302240

rs_786205841

5 SubmittersRCV000171086 RCV000285552 RCV001094618 RCV003165349

NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys)

SNV
Germline

Chr20:33443581

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
not specified
Long QT syndrome 12

Criteria Provided
Conflicting Classifications

CA302321

rs_786205846

5 SubmittersRCV000171115 RCV000246049 RCV000458749 RCV001804901 RCV002485082

NM_172201.2(KCNE2):c.354G>A (p.Gly118=)

SNV
Germline

Chr21:34370832

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Long QT syndrome 6
Atrial fibrillation, familial, 4

Criteria Provided
Conflicting Classifications

CA301978

rs_187917779

7 SubmittersRCV000170951 RCV000254504 RCV000586241 RCV000648403 RCV001142019

NM_174934.4(SCN4B):c.235-18A>G

SNV
Germline

Chr11:118144079

Conflicting classifications of pathogenicity

not specified
Long QT syndrome 10

Criteria Provided
Conflicting Classifications

CA302347

rs_758764353

2 SubmittersRCV000171556 RCV001852053

NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn)

SNV
Germline

Chr12:2115343

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA235852

rs_773528195

4 SubmittersRCV000171204 RCV001320102 RCV003165352

NM_172201.2(KCNE2):c.209G>A (p.Ser70Asn)

SNV
Germline

Chr21:34370687

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 6

Criteria Provided
Conflicting Classifications

CA236156

rs_751931568

4 SubmittersRCV000171348 RCV001049236

NM_001148.6(ANK2):c.8324A>G (p.His2775Arg)

SNV
Germline

Chr4:113356942

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA236226

rs_534934297

6 SubmittersRCV000171381 RCV001087082 RCV001194187 RCV002426815

NM_000238.4(KCNH2):c.1738G>C (p.Asp580His)

SNV
Germline

Chr7:150951655

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA005317

rs_786205588

3 SubmittersRCV000171410 RCV001852069

NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr)

SNV
Germline

Chr4:113255921

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA236921

rs_147458476

5 SubmittersRCV000171736 RCV000621489 RCV001050790

NM_001148.6(ANK2):c.2110C>G (p.Gln704Glu)

SNV
Germline

Chr4:113287635

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA236521

rs_139197937

4 SubmittersRCV000171591 RCV000247687 RCV001217739 RCV002478545

NM_001148.6(ANK2):c.4220A>G (p.Lys1407Arg)

SNV
Germline

Chr4:113343114

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA236536

rs_200648573

4 SubmittersRCV000171595 RCV001374226

NM_001148.6(ANK2):c.4555G>T (p.Ala1519Ser)

SNV
Germline

Chr4:113353173

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA236926

rs_200920714

4 SubmittersRCV000171738 RCV001050671 RCV002336407

NM_001148.6(ANK2):c.5827G>A (p.Gly1943Arg)

SNV
Germline

Chr4:113354445

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA236552

rs_367592943

3 SubmittersRCV000171599 RCV005652331 RCV005089860

NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn)

SNV
Germline

Chr4:113354846

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
not specified
Congenital long QT syndrome

Criteria Provided
Conflicting Classifications

CA236938

rs_144848998

10 SubmittersRCV000171742 RCV001085787 RCV001147448 RCV002362876 RCV002307431 RCV003447513

NM_001148.6(ANK2):c.6854T>C (p.Ile2285Thr)

SNV
Germline

Chr4:113355472

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA236941

rs_150684838

5 SubmittersRCV000171743 RCV000688226 RCV000852971 RCV002362877

NM_001148.6(ANK2):c.7436A>G (p.Lys2479Arg)

SNV
Germline

Chr4:113356054

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA236561

rs_201619005

4 SubmittersRCV000171602 RCV000602182 RCV002381549 RCV002516559

NM_001148.6(ANK2):c.7532G>A (p.Arg2511Gln)

SNV
Germline

Chr4:113356150

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA236564

rs_142684331

3 SubmittersRCV000171603 RCV002515243 RCV002390409

NM_001148.6(ANK2):c.7942G>C (p.Gly2648Arg)

SNV
Germline

Chr4:113356560

Conflicting classifications of pathogenicity

Condition: not provided
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA236567

rs_199828363

4 SubmittersRCV000171604 RCV000844946 RCV002415729 RCV005089861

NM_001148.6(ANK2):c.8381A>G (p.Gln2794Arg)

SNV
Germline

Chr4:113356999

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA236570

rs_528909081

4 SubmittersRCV000171605 RCV001087258 RCV001148488 RCV002433742

NM_001148.6(ANK2):c.8447G>A (p.Gly2816Asp)

SNV
Germline

Chr4:113357065

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA236573

rs_199538455

3 SubmittersRCV000171606 RCV001206581 RCV002444688

NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys)

SNV
Germline

Chr4:113357664

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Cardiomyopathy
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA236953

rs_149963885

15 SubmittersRCV000171747 RCV000440096 RCV000620867 RCV000852975 RCV001081980 RCV001150060

NM_001148.6(ANK2):c.9916G>A (p.Val3306Ile)

SNV
Germline

Chr4:113358534

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA236576

rs_200922244

5 SubmittersRCV000171607 RCV002381550 RCV002505236 RCV002515244

NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys)

SNV
Germline

Chr7:150948462

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 2
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA007118

rs_201627778

7 SubmittersRCV000171663 RCV000412673 RCV000618660 RCV001085306 RCV000988001 RCV001842517

NM_005751.5(AKAP9):c.389C>G (p.Pro130Arg)

SNV
Germline

Chr7:91992195

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA236470

rs_200518712

3 SubmittersRCV000171574 RCV003105807 RCV005338092

NM_005751.5(AKAP9):c.1685A>G (p.His562Arg)

SNV
Germline

Chr7:92001602

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11
Cervical cancer
not specified

Criteria Provided
Conflicting Classifications

CA236473

rs_145033147

6 SubmittersRCV000171575 RCV000805832 RCV002408741 RCV002485091 RCV005889667 RCV005417987

NM_005751.5(AKAP9):c.2230G>A (p.Glu744Lys)

SNV
Germline

Chr7:92002147

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA236858

rs_202091548

3 SubmittersRCV000171714 RCV000816680 RCV002426816

NM_005751.5(AKAP9):c.5543C>G (p.Ser1848Cys)

SNV
Germline

Chr7:92052900

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA236491

rs_189083857

3 SubmittersRCV000171581 RCV001087233 RCV002345578

NM_005751.5(AKAP9):c.5636T>C (p.Met1879Thr)

SNV
Germline

Chr7:92061294

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA236494

rs_776979647

3 SubmittersRCV000171582 RCV001852073 RCV002345579

NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys)

SNV
Germline

Chr7:92065290

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 11
not specified
AKAP9-related disorder

Criteria Provided
Conflicting Classifications

CA236876

rs_61757671

12 SubmittersRCV000171720 RCV000252240 RCV000361700 RCV000999737 RCV001797656 RCV003982921

NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly)

SNV
Germline

Chr7:92065429

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11
not specified

Criteria Provided
Conflicting Classifications

CA236879

rs_73226383

10 SubmittersRCV000171721 RCV000204021 RCV000250867 RCV001333446 RCV001256723

NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys)

SNV
Germline

Chr7:92079621

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA236885

rs_201977551

9 SubmittersRCV000171723 RCV000204515 RCV000253231

NM_005751.5(AKAP9):c.7773A>C (p.Gln2591His)

SNV
Germline

Chr7:92079906

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA236500

rs_553800160

4 SubmittersRCV000171584 RCV001088422 RCV002408742 RCV005889668

NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn)

SNV
Germline

Chr7:92083295

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome 11
Long QT syndrome
not specified
AKAP9-related disorder

Criteria Provided
Conflicting Classifications

CA236888

rs_144875383

10 SubmittersRCV000171724 RCV000241571 RCV000624954 RCV001084749 RCV001192966 RCV003907542

NM_005751.5(AKAP9):c.8894A>G (p.Tyr2965Cys)

SNV
Germline

Chr7:92085556

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
AKAP9-related disorder

Criteria Provided
Conflicting Classifications

CA236506

rs_201958512

4 SubmittersRCV000171586 RCV001439818 RCV002372067 RCV003927571

NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly)

SNV
Germline

Chr7:92096722

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiomyopathy
Long QT syndrome 11
not specified

Criteria Provided
Conflicting Classifications

CA236891

rs_201048693

7 SubmittersRCV000171726 RCV000530961 RCV000619253 RCV000853024 RCV001333447 RCV003230433

NM_005751.5(AKAP9):c.9830T>C (p.Ile3277Thr)

SNV
Germline

Chr7:92096789

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA236512

rs_144021475

5 SubmittersRCV000171588 RCV001852074 RCV002372068 RCV006268644

NM_005751.5(AKAP9):c.10249C>T (p.Arg3417Cys)

SNV
Germline

Chr7:92097208

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 11
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA236897

rs_146495719

4 SubmittersRCV000171728 RCV001358482 RCV001209333 RCV002381554

NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys)

SNV
Germline

Chr7:92097646

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 11
Cardiovascular phenotype
Long QT syndrome
not specified
AKAP9-related disorder

Criteria Provided
Conflicting Classifications

CA236900

rs_61757664

10 SubmittersRCV000171729 RCV000185546 RCV000250716 RCV000304827 RCV002509278 RCV003937537

NM_005751.5(AKAP9):c.10523G>A (p.Cys3508Tyr)

SNV
Germline

Chr7:92097710

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA236515

rs_750007670

4 SubmittersRCV000171589 RCV003398880 RCV003647750 RCV004020046

NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile)

SNV
Germline

Chr7:92102725

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA236909

rs_143306820

4 SubmittersRCV000171732 RCV000362669 RCV000617326 RCV002298501

NM_005751.5(AKAP9):c.11230G>T (p.Gly3744Trp)

SNV
Germline

Chr7:92102726

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA236912

rs_200327385

4 SubmittersRCV000171733 RCV000273671 RCV002433743 RCV003224186

NM_005751.5(AKAP9):c.11362G>C (p.Val3788Leu)

SNV
Germline

Chr7:92105709

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA236918

rs_199527737

4 SubmittersRCV000171735 RCV000806812 RCV002321683

NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr)

SNV
Germline

Chr7:92110149

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Hypertrophic cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA236518

rs_77447750

7 SubmittersRCV000171590 RCV000284774 RCV000853028 RCV002326938 RCV003230431

NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu)

SNV
Germline

Chr11:118137097

Conflicting classifications of pathogenicity

SUDDEN INFANT DEATH SYNDROME
Long QT syndrome 10
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA199796

rs_140348243

5 SubmittersRCV000171568 RCV000234662 RCV000490150 RCV002354426

NM_174934.4(SCN4B):c.607G>A (p.Val203Met)

SNV
Germline

Chr11:118137107

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 10
not specified
Cardiovascular phenotype
SCN4B-related disorder

Criteria Provided
Conflicting Classifications

CA236970

rs_150312046

6 SubmittersRCV000171769 RCV001082067 RCV001797657 RCV002354430 RCV003965229

NM_174934.4(SCN4B):c.112G>C (p.Ala38Pro)

SNV
Germline

Chr11:118145179

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 10
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA236795

rs_777894412

3 SubmittersRCV000171694 RCV001079556 RCV003380503

NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys)

SNV
Germline

Chr12:2679681

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA236607

rs_775251529

3 SubmittersRCV000171616 RCV001087277 RCV003165353

NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro)

SNV
Germline

Chr12:2679760

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA236615

rs_201918158

4 SubmittersRCV000171617 RCV001520593 RCV002345580

NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)

SNV
Germline

Chr12:2686216

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
not specified
Cardiomyopathy
Timothy syndrome
Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA236625

rs_374528680

12 SubmittersRCV000171619 RCV000226828 RCV000617712 RCV000855639 RCV000852446 RCV000988770 RCV002478546

NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala)

SNV
Germline

Chr12:2691126

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA236633

rs_199694744

5 SubmittersRCV000171620 RCV000617997 RCV001084323 RCV005404312

NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)

SNV
Germline

Chr20:33412714

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 12
Cardiovascular phenotype
Long QT syndrome 1
not specified
Condition: not provided
SNTA1-related disorder

Criteria Provided
Conflicting Classifications

CA199841

rs_56157422

15 SubmittersRCV000171774 RCV000191018 RCV000247418 RCV000990299 RCV001256962 RCV001706109 RCV003917588

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

SNV
Germline

Chr14:23394162

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA238407

rs_200153625

7 SubmittersRCV000172564 RCV000208173 RCV000821750 RCV002433759 RCV003318361

NM_000218.3(KCNQ1):c.1394-6C>T

SNV
Germline

Chr11:2661955

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA005733

rs_759714698

3 SubmittersRCV000173988 RCV003647752

NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=)

SNV
Germline

Chr7:150947369

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA007976

rs_200799870

9 SubmittersRCV000225708 RCV000622008 RCV000712077 RCV001084933 RCV001842788

NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=)

SNV
Germline

Chr12:2567606

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA240034

rs_375534041

8 SubmittersRCV000174495 RCV001087382 RCV002399627 RCV003235094

NM_000719.7(CACNA1C):c.2073C>T (p.Asn691=)

SNV
Germline

Chr12:2581767

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA240246

rs_794727117

2 SubmittersRCV000174690 RCV001417895

NM_000719.7(CACNA1C):c.50-3C>T

SNV
Germline

Chr12:2115221

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
See cases
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA241369

rs_780161540

5 SubmittersRCV000175641 RCV001050617 RCV002252018 RCV003165365

NM_033337.3(CAV3):c.312G>A (p.Val104=)

SNV
Germline

Chr3:8745723

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA241819

rs_794727305

3 SubmittersRCV000175964 RCV001403467

NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=)

SNV
Germline

Chr12:2595976

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA241898

rs_184684058

4 SubmittersRCV000176043 RCV000619374 RCV001084304

NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)

SNV
Germline

Chr12:2607008

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
not specified
Brugada syndrome 3
Timothy syndrome
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA242629

rs_111606207

13 SubmittersRCV000176619 RCV000250335 RCV001082496 RCV001358770 RCV003224191

NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=)

SNV
Germline

Chr12:2666770

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Cardiovascular phenotype
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA244864

rs_372702466

10 SubmittersRCV000177898 RCV001085297 RCV001729429 RCV002314638 RCV003955061

NM_000719.7(CACNA1C):c.4624-8G>A

SNV
Germline

Chr12:2668925

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA244916

rs_529345041

3 SubmittersRCV000177932 RCV000724509 RCV001089322

NM_000719.7(CACNA1C):c.4727-10C>T

SNV
Germline

Chr12:2674531

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA244973

rs_749903718

2 SubmittersRCV000177972 RCV000631872

NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr)

SNV
Germline

Chr12:2677207

Conflicting classifications of pathogenicity

Timothy syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Short QT syndrome
Timothy syndrome

Criteria Provided
Conflicting Classifications

CA245512

rs_370432385

8 SubmittersRCV000522719 RCV000468918 RCV000724254 RCV002336438 RCV005863021

NM_000719.7(CACNA1C):c.5091+8G>A

SNV
Germline

Chr12:2677875

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA245552

rs_768117202

3 SubmittersRCV000178454 RCV001487523 RCV005404334

NM_001148.6(ANK2):c.11010C>T (p.Thr3670=)

SNV
Germline

Chr4:113365160

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA245553

rs_794727664

2 SubmittersRCV000178455 RCV003532011

NM_000719.7(CACNA1C):c.5202C>T (p.Gly1734=)

SNV
Germline

Chr12:2679554

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA245599

rs_769124319

3 SubmittersRCV000178484 RCV001206136 RCV004992054

NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=)

SNV
Germline

Chr12:2679659

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA245607

rs_530924728

5 SubmittersRCV000178485 RCV001085668 RCV002345622 RCV003947519

NM_001148.6(ANK2):c.11538C>T (p.Leu3846=)

SNV
Germline

Chr4:113369733

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
not specified
Cardiac arrhythmia, ankyrin-B-related
ANK2-related disorder

Criteria Provided
Conflicting Classifications

CA245653

rs_45602336

7 SubmittersRCV000178518 RCV000249867 RCV000334502 RCV000779701 RCV001094817 RCV003927664

NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro)

SNV
Germline

Chr12:2685806

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA245680

rs_369438564

4 SubmittersRCV000525777 RCV000724244 RCV002345623

NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=)

SNV
Germline

Chr7:92099740

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome 11
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA245695

rs_56198613

9 SubmittersRCV000178555 RCV000617636 RCV000625230 RCV001086580 RCV001260416

NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=)

SNV
Germline

Chr12:2686257

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA245702

rs_757373786

4 SubmittersRCV000178564 RCV001084032 RCV002354460

NM_000719.7(CACNA1C):c.5706A>G (p.Glu1902=)

SNV
Germline

Chr12:2686191

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA245710

rs_537002656

3 SubmittersRCV000178565 RCV001082015 RCV005305975

NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly)

SNV
Germline

Chr12:2688778

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Catecholaminergic polymorphic ventricular tachycardia
Long QT syndrome 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA245758

rs_549476254

5 SubmittersRCV000178594 RCV000232834 RCV000852447 RCV002272160 RCV002354461

NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg)

SNV
Germline

Chr12:2690943

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Brugada syndrome 3
Long QT syndrome 8
Timothy syndrome
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA245795

rs_200588235

7 SubmittersRCV000178619 RCV000619563 RCV000801058 RCV002485171 RCV003422074

NM_000719.7(CACNA1C):c.666C>T (p.Asn222=)

SNV
Germline

Chr12:2457615

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA245955

rs_527741368

3 SubmittersRCV000178795 RCV000622045 RCV001421487

NM_005572.4(LMNA):c.1712G>A (p.Arg571His)

SNV
Germline

Chr1:156137757

Conflicting classifications of pathogenicity

Monogenic diabetes
Cardiomyopathy
Long QT syndrome
Condition: not provided
Charcot-Marie-Tooth disease type 2
Primary dilated cardiomyopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA017707

rs_200917748

12 SubmittersRCV000664076 RCV000778037 RCV000852591 RCV001701632 RCV001852310 RCV002464010 RCV004020193 RCV000182349

NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)

SNV
Germline

Chr1:201091983

Conflicting classifications of pathogenicity

Malignant hyperthermia of anesthesia
not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Long QT syndrome
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA004075

rs_141204958

13 SubmittersRCV000210886 RCV000455562 RCV000651228 RCV000755673 RCV000996101 RCV003318365 RCV005008109 RCV005361087 RCV005402868

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

9 SubmittersRCV000182681 RCV000190228 RCV000617576 RCV002288789

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

5 SubmittersRCV000182731 RCV002336457 RCV002515328 RCV003318367

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_000335.5(SCN5A):c.6043G>A (p.Val2015Met)

SNV
Germline

Chr3:38550326

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA019615

rs_762981322

7 SubmittersRCV001147408 RCV001148333 RCV001147409 RCV001148331 RCV001147407 RCV001148332 RCV001250213 RCV001781541 RCV002354484 RCV001842931

NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter)

SNV
Germline

Chr3:38550542

Conflicting classifications of pathogenicity

Condition: not provided
SCN5A-related disorder
Cardiovascular phenotype
Cardiac arrhythmia
not specified
Congenital long QT syndrome
Brugada syndrome

Criteria Provided
Conflicting Classifications

CA019491

rs_794728940

13 SubmittersRCV000183202 RCV000844965 RCV002354485 RCV001842941 RCV003398912 RCV004732756 RCV004771804

NM_000335.5(SCN5A):c.5294T>A (p.Met1765Lys)

SNV
Germline

Chr3:38551075

Conflicting classifications of pathogenicity

Condition: not provided
Sick sinus syndrome 1
Long QT syndrome 3

Criteria Provided
Conflicting Classifications

CA019080

rs_752476527

4 SubmittersRCV000183113 RCV001199319 RCV005256465

NM_000335.5(SCN5A):c.4450A>G (p.Ile1484Val)

SNV
Germline

Chr3:38555745

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA018271

rs_1553694247

2 SubmittersRCV003541172 RCV004786502

NM_000335.5(SCN5A):c.4394T>C (p.Ile1465Thr)

SNV
Germline

Chr3:38556481

Conflicting classifications of pathogenicity

Condition: not provided
Cardiac arrhythmia
Long QT syndrome 3
Brugada syndrome 1
Dilated cardiomyopathy 1E

Criteria Provided
Conflicting Classifications

CA018207

rs_794728882

5 SubmittersRCV000183073 RCV001842922 RCV006454660

NM_000335.5(SCN5A):c.4242+1G>C

SNV
Germline

Chr3:38560146

Pathogenic/Likely pathogenic

Condition: not provided
Brugada syndrome
Congenital long QT syndrome
Long QT syndrome 3
Dilated cardiomyopathy 1E
8 conditions
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA018015

rs_794728879

7 SubmittersRCV000183065 RCV000826183 RCV002221508 RCV002500543 RCV004586605 RCV006342159

NM_000335.5(SCN5A):c.3574C>T (p.Arg1192Trp)

SNV
Germline

Chr3:38575386

Conflicting classifications of pathogenicity

Condition: not provided
Brugada syndrome
Long QT syndrome 3
Cardiac arrhythmia
Cardiovascular phenotype
Arrhythmogenic right ventricular cardiomyopathy

Criteria Provided
Conflicting Classifications

CA017280

rs_192379242

7 SubmittersRCV000183039 RCV000239165 RCV001842918 RCV002453661 RCV004596101

NM_000335.5(SCN5A):c.2956C>T (p.Arg986Trp)

SNV
Germline

Chr3:38581203

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016660

rs_561547165

7 SubmittersRCV000183018 RCV000265516 RCV000285751 RCV000320680 RCV000345371 RCV000374045 RCV001094864 RCV001842910 RCV002433810

NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter)

SNV
Germline

Chr3:38613782

Pathogenic

Condition: not provided
Long QT syndrome 3
Cardiovascular phenotype
8 conditions
Cardiac arrhythmia
Brugada syndrome
SUDDEN INFANT DEATH SYNDROME
Brugada syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA019700

rs_794728849

10 SubmittersRCV000182937 RCV000709764 RCV002362939 RCV002485217 RCV003591705 RCV003996808 RCV006547762

NM_000335.5(SCN5A):c.483-1G>A

SNV
Germline

Chr3:38620972

Pathogenic/Likely pathogenic

Condition: not provided
Congenital long QT syndrome
Brugada syndrome
Brugada syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA018624

rs_794728846

4 SubmittersRCV000182928 RCV000604031 RCV001225336

NM_000238.4(KCNH2):c.3365C>T (p.Pro1122Leu)

SNV
Germline

Chr7:150945480

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA008263

rs_531460655

6 SubmittersRCV000525474 RCV001704869 RCV002453653 RCV001842839

NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala)

SNV
Germline

Chr7:150946960

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia
Short QT syndrome type 1
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA008140

rs_751559990

5 SubmittersRCV000181914 RCV001045529 RCV002321715 RCV001842837 RCV002485200

NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp)

SNV
Germline

Chr7:150947386

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 2
Cardiac arrhythmia
Cardiovascular phenotype
Short QT syndrome type 1
Long QT syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA007892

rs_373394254

8 SubmittersRCV000694140 RCV001159566 RCV001842836 RCV002321714 RCV002500536 RCV003155109

NM_000238.4(KCNH2):c.3079C>A (p.Leu1027Ile)

SNV
Germline

Chr7:150947401

Conflicting classifications of pathogenicity

Cardiac arrhythmia
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007884

rs_794728346

5 SubmittersRCV001842813 RCV001852289 RCV002319451

NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter)

SNV
Germline

Chr7:150947440

Pathogenic

Long QT syndrome
Condition: not provided
Long QT syndrome 2
Cardiovascular phenotype
Congenital long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007849

rs_794728403

7 SubmittersRCV000204945 RCV000223784 RCV002272162 RCV004992061 RCV004017459

NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter)

SNV
Germline

Chr7:150947478

Pathogenic

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA007773

rs_794728401

7 SubmittersRCV000181904 RCV000228852 RCV002433796 RCV001842834

NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu)

SNV
Germline

Chr7:150947791

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Long QT syndrome 2
Cardiac arrhythmia
Cardiovascular phenotype
Short QT syndrome type 1
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA007429

rs_794728399

8 SubmittersRCV000181895 RCV000540197 RCV001160950 RCV001842833 RCV002433795 RCV002492806

NM_000238.4(KCNH2):c.2780G>A (p.Trp927Ter)

SNV
Germline

Chr7:150947791

Pathogenic

Long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA007420

rs_794728399

3 SubmittersRCV000631582 RCV003311707

NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val)

SNV
Germline

Chr7:150948471

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
Long QT syndrome 2
Short QT syndrome type 1

Criteria Provided
Conflicting Classifications

CA007102

rs_765427343

7 SubmittersRCV000181878 RCV001088454 RCV001842830 RCV002433792 RCV005031720

NM_000238.4(KCNH2):c.2454G>A (p.Ser818=)

SNV
Germline

Chr7:150948994

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 2
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA006771

rs_72549418

9 SubmittersRCV000181735 RCV000243287 RCV000316839 RCV001095233 RCV001531066 RCV001842809

NM_000238.4(KCNH2):c.2398+5G>T

SNV
Germline

Chr7:150950163

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA006674

rs_1554425149

4 SubmittersRCV000703830 RCV003298232 RCV006547744

NM_000238.4(KCNH2):c.2398+1G>C

SNV
Germline

Chr7:150950167

Pathogenic

Long QT syndrome 2
Condition: not provided

Criteria Provided
Single Submitter

CA006638

rs_794728391

2 SubmittersRCV000015503 RCV000181858

NM_000238.4(KCNH2):c.2386G>C (p.Val796Leu)

SNV
Germline

Chr7:150950180

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006553

rs_143335921

2 SubmittersRCV001361466 RCV003165386

NM_000238.4(KCNH2):c.2360T>A (p.Ile787Asn)

SNV
Germline

Chr7:150950206

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA006494

rs_794728387

2 SubmittersRCV000181849 RCV000694640

NM_000238.4(KCNH2):c.2192A>C (p.His731Pro)

SNV
Germline

Chr7:150950374

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA006334

rs_794728385

2 SubmittersRCV000181841 RCV002516847

NM_000238.4(KCNH2):c.2145G>A (p.Ala715=)

SNV
Germline

Chr7:150950921

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Long QT syndrome 2
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA006279

rs_794728384

6 SubmittersRCV000181840 RCV000466148 RCV002298509 RCV002426873 RCV003591699

NM_000238.4(KCNH2):c.2104C>T (p.Gln702Ter)

SNV
Germline

Chr7:150950962

Pathogenic

Condition: not provided
Long QT syndrome 2
Short QT syndrome type 1
Cardiac arrhythmia
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006236

rs_794728382

5 SubmittersRCV000181835 RCV000763170 RCV005401362 RCV004806173

NM_000238.4(KCNH2):c.2026C>T (p.Gln676Ter)

SNV
Germline

Chr7:150951040

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006157

rs_794728381

2 SubmittersRCV000181834 RCV001852292

NM_000238.4(KCNH2):c.1956T>A (p.Tyr652Ter)

SNV
Germline

Chr7:150951110

Pathogenic

Condition: not provided
Long QT syndrome
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA006093

rs_1137617

3 SubmittersRCV000181832 RCV003647755 RCV005892104

NM_000238.4(KCNH2):c.1946-2A>C

SNV
Germline

Chr7:150951122

Pathogenic

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA006083

rs_794728488

3 SubmittersRCV000182039 RCV001035147 RCV002408793

NM_000238.4(KCNH2):c.1945+6T>C

SNV
Germline

Chr7:150951442

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA006073

rs_794728380

3 SubmittersRCV000181831 RCV000227185 RCV005652336

NM_000238.4(KCNH2):c.1945+1G>A

SNV
Germline

Chr7:150951447

Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006070

rs_794728487

2 SubmittersRCV000182038 RCV005055678

NM_000238.4(KCNH2):c.1918T>C (p.Phe640Leu)

SNV
Germline

Chr7:150951475

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA006010

rs_199473529

2 SubmittersRCV000182036 RCV000678951

NM_000238.4(KCNH2):c.1900A>G (p.Thr634Ala)

SNV
Germline

Chr7:150951493

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA005914

rs_794728377

2 SubmittersRCV000181826 RCV003314572

NM_000238.4(KCNH2):c.1881C>A (p.Phe627Leu)

SNV
Germline

Chr7:150951512

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005788

rs_199473039

2 SubmittersRCV000182034 RCV001385333

NM_000238.4(KCNH2):c.1802G>A (p.Gly601Asp)

SNV
Germline

Chr7:150951591

Conflicting classifications of pathogenicity

Condition: not provided
Short QT syndrome type 1
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA005538

rs_794728480

2 SubmittersRCV000182024 RCV004796075

NM_000238.4(KCNH2):c.1754G>T (p.Trp585Leu)

SNV
Germline

Chr7:150951639

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA005401

rs_794728484

3 SubmittersRCV000182029 RCV001852296 RCV006249602

NM_000238.4(KCNH2):c.1742C>A (p.Ser581Ter)

SNV
Germline

Chr7:150951651

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005339

rs_794728483

2 SubmittersRCV000182028 RCV003532026

NM_000238.4(KCNH2):c.1689G>C (p.Trp563Cys)

SNV
Germline

Chr7:150951704

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA005080

rs_199473517

2 SubmittersRCV000181808 RCV006461810

NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr)

SNV
Germline

Chr7:150951709

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005051

rs_794728481

3 SubmittersRCV000182026 RCV000531749 RCV002408791

NM_000238.4(KCNH2):c.1600C>A (p.Arg534Ser)

SNV
Germline

Chr7:150951793

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA004896

rs_199472916

2 SubmittersRCV000182023 RCV000473348

NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn)

SNV
Germline

Chr7:150952457

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome 2
Long QT syndrome
Condition: not provided
Short QT syndrome type 1
Long QT syndrome 2
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA004769

rs_370637245

7 SubmittersRCV000618149 RCV000678934 RCV000699875 RCV002223807 RCV004796074 RCV003591698

NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg)

SNV
Germline

Chr7:150952486

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA004714

rs_794728370

4 SubmittersRCV000181793 RCV000223922 RCV002390455 RCV003532022

NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser)

SNV
Germline

Chr7:150952523

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Cardiac arrhythmia
Cardiovascular phenotype
Long QT syndrome 2
Short QT syndrome type 1
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA004637

rs_562875924

10 SubmittersRCV000181791 RCV000462536 RCV001192537 RCV001842825 RCV002390454 RCV002470797 RCV002492805

NM_000238.4(KCNH2):c.1415G>C (p.Arg472Pro)

SNV
Germline

Chr7:150952567

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
KCNH2-related disorder

Criteria Provided
Conflicting Classifications

CA004589

rs_794728369

3 SubmittersRCV000181790 RCV003532021 RCV003335180

NM_000238.4(KCNH2):c.1330G>T (p.Glu444Ter)

SNV
Germline

Chr7:150952652

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA004486

rs_201268831

2 SubmittersRCV000181788 RCV002516846

NM_000238.4(KCNH2):c.1282T>C (p.Ser428Pro)

SNV
Germline

Chr7:150952700

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA004400

rs_794728368

2 SubmittersRCV000181787 RCV003996707

NM_000238.4(KCNH2):c.1193G>A (p.Trp398Ter)

SNV
Germline

Chr7:150952789

Pathogenic

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA004257

rs_794728366

3 SubmittersRCV000181782 RCV001233303 RCV005404345

NM_000238.4(KCNH2):c.1129-1G>A

SNV
Germline

Chr7:150952854

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA004231

rs_794728478

2 SubmittersRCV000182018 RCV000706917

NM_000238.4(KCNH2):c.1129-2A>G

SNV
Germline

Chr7:150952855

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA004238

rs_794728365

2 SubmittersRCV000181781 RCV001852291

NM_000238.4(KCNH2):c.1128G>A (p.Gln376=)

SNV
Germline

Chr7:150957291

Pathogenic/Likely pathogenic

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia
Long QT syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA004226

rs_770047651

8 SubmittersRCV000200566 RCV000223833 RCV000618780 RCV001842824 RCV002298508

NM_000238.4(KCNH2):c.1096C>T (p.Arg366Ter)

SNV
Germline

Chr7:150957323

Pathogenic

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA004210

rs_794728364

5 SubmittersRCV000181779 RCV001039878 RCV002453650 RCV003327377

NM_000238.4(KCNH2):c.387C>G (p.Phe129Leu)

SNV
Germline

Chr7:150959657

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA008406

rs_764831888

3 SubmittersRCV000181754 RCV002362931 RCV002516842

NM_000238.4(KCNH2):c.342C>T (p.Pro114=)

SNV
Germline

Chr7:150959702

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Long QT syndrome 2
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA008300

rs_532959204

7 SubmittersRCV000181715 RCV000868019 RCV001159790 RCV001531069 RCV001842798 RCV002453648

NM_000238.4(KCNH2):c.284A>C (p.Glu95Ala)

SNV
Germline

Chr7:150974734

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007512

rs_794728414

3 SubmittersRCV000181945 RCV001363747 RCV002433797

NM_000238.4(KCNH2):c.214C>T (p.Pro72Ser)

SNV
Germline

Chr7:150974804

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA006286

rs_794728411

3 SubmittersRCV000181936 RCV002516850

NM_000238.4(KCNH2):c.188C>A (p.Pro63His)

SNV
Germline

Chr7:150974830

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005881

rs_766379103

5 SubmittersRCV000181932 RCV000631676 RCV002408789

NM_000238.4(KCNH2):c.170C>T (p.Ala57Val)

SNV
Germline

Chr7:150974848

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA005221

rs_794728493

2 SubmittersRCV000182050 RCV001852297

NM_000238.4(KCNH2):c.167G>T (p.Arg56Leu)

SNV
Germline

Chr7:150974851

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005012

rs_199472845

2 SubmittersRCV000181931 RCV000461590

NM_000238.4(KCNH2):c.156C>A (p.Cys52Ter)

SNV
Germline

Chr7:150974862

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA004804

rs_754921704

1 SubmittersRCV001236747

NM_000238.4(KCNH2):c.139G>T (p.Gly47Cys)

SNV
Germline

Chr7:150974879

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA004565

rs_794728409

2 SubmittersRCV000181929 RCV001248792

NM_000238.4(KCNH2):c.125T>C (p.Ile42Thr)

SNV
Germline

Chr7:150974893

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA004336

rs_199473488

2 SubmittersRCV000181925 RCV003647756

NM_000238.4(KCNH2):c.80G>A (p.Arg27His)

SNV
Germline

Chr7:150974938

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA008830

rs_199472828

3 SubmittersRCV000181921 RCV001213481

NM_000238.4(KCNH2):c.77-1G>A

SNV
Germline

Chr7:150974942

Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008799

rs_794728406

2 SubmittersRCV000181919 RCV001379136

NM_000238.4(KCNH2):c.51C>G (p.Thr17=)

SNV
Germline

Chr7:150977863

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype
Condition: not provided
Long QT syndrome 2
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA008539

rs_144338227

13 SubmittersRCV000181750 RCV000268629 RCV000622136 RCV000725132 RCV001095173 RCV001842820

NM_000238.4(KCNH2):c.31C>T (p.Gln11Ter)

SNV
Germline

Chr7:150977883

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008102

rs_794728416

2 SubmittersRCV000181951 RCV002516851

NM_000218.3(KCNQ1):c.321G>T (p.Gln107His)

SNV
Germline

Chr11:2445419

Likely pathogenic

Long QT syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA006790

rs_1554958092

2 SubmittersRCV000678927 RCV004808611

NM_000218.3(KCNQ1):c.343G>A (p.Glu115Lys)

SNV
Germline

Chr11:2445441

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA006828

rs_794728553

2 SubmittersRCV000182261 RCV002517777

NM_000218.3(KCNQ1):c.377A>T (p.His126Leu)

SNV
Germline

Chr11:2445475

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA006910

rs_794728579

2 SubmittersRCV000182329 RCV000631593

NM_000218.3(KCNQ1):c.387-5T>A

SNV
Germline

Chr11:2527923

Pathogenic/Likely pathogenic

Long QT syndrome
Cardiac arrhythmia
Congenital long QT syndrome
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA006957

rs_794728549

6 SubmittersRCV000477502 RCV005401364 RCV004786498 RCV005860025

NM_000218.3(KCNQ1):c.477+1G>A

SNV
Germline

Chr11:2528019

Likely pathogenic

Condition: not provided
Long QT syndrome
Long QT syndrome 1
Cardiac arrhythmia
Congenital long QT syndrome
Cardiovascular phenotype

Reviewed By Expert Panel

CA007168

rs_762814879

13 SubmittersRCV000182253 RCV000473506 RCV000678956 RCV001842876 RCV001449695 RCV002326984

NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu)

SNV
Germline

Chr11:2570671

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007345

rs_199472697

3 SubmittersRCV000182080 RCV001852299 RCV003319329

NM_000218.3(KCNQ1):c.605A>G (p.Asp202Gly)

SNV
Germline

Chr11:2571325

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007736

rs_794728569

2 SubmittersRCV000182301 RCV003114331

NM_000218.3(KCNQ1):c.642C>A (p.Cys214Ter)

SNV
Germline

Chr11:2571362

Pathogenic/Likely pathogenic

not specified
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007812

rs_775479779

2 SubmittersRCV000507298 RCV001383970

NM_000218.3(KCNQ1):c.707T>C (p.Leu236Pro)

SNV
Germline

Chr11:2572036

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 1
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA007943

rs_794728512

3 SubmittersRCV000182102 RCV000853596 RCV001852301

NM_000218.3(KCNQ1):c.707T>G (p.Leu236Arg)

SNV
Germline

Chr11:2572036

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA007950

rs_794728512

2 SubmittersRCV000182304 RCV005089907

NM_000218.3(KCNQ1):c.757T>C (p.Ser253Pro)

SNV
Germline

Chr11:2572086

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA008091

rs_764781840

4 SubmittersRCV000182107 RCV000678810 RCV005582268

NM_000218.3(KCNQ1):c.805G>C (p.Gly269Arg)

SNV
Germline

Chr11:2572870

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008284

rs_120074193

2 SubmittersRCV000182306 RCV006555044

NM_000218.3(KCNQ1):c.827C>T (p.Ser276Phe)

SNV
Germline

Chr11:2572892

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA008405

rs_794728514

3 SubmittersRCV000182122 RCV002408794 RCV003996710

NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)

SNV
Germline

Chr11:2572979

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA008627

rs_120074186

8 SubmittersRCV000182131 RCV000678950 RCV001808461 RCV002372111 RCV002515312

NM_000218.3(KCNQ1):c.946G>T (p.Gly316Trp)

SNV
Germline

Chr11:2583459

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008840

rs_104894255

2 SubmittersRCV000182140 RCV001852302

NM_000218.3(KCNQ1):c.961C>T (p.Gln321Ter)

SNV
Germline

Chr11:2583474

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008923

rs_794728517

2 SubmittersRCV000182144 RCV001852303

NM_000218.3(KCNQ1):c.965C>G (p.Thr322Arg)

SNV
Germline

Chr11:2583478

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA008952

rs_199472755

3 SubmittersRCV000182148 RCV001852304 RCV002372112

NM_000218.3(KCNQ1):c.1009A>T (p.Ile337Phe)

SNV
Germline

Chr11:2583522

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA004814

rs_794728520

2 SubmittersRCV000182152 RCV001045929

NM_000218.3(KCNQ1):c.1031C>G (p.Ala344Gly)

SNV
Germline

Chr11:2583544

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA004959

rs_199472763

2 SubmittersRCV000182313 RCV003532030

NM_000218.3(KCNQ1):c.1033-3C>T

SNV
Germline

Chr11:2585209

Conflicting classifications of pathogenicity

not specified
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA005037

rs_373884260

2 SubmittersRCV000182070 RCV006461813

NM_000218.3(KCNQ1):c.1033-2A>C

SNV
Germline

Chr11:2585210

Likely pathogenic

Condition: not provided
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA005023

rs_794728523

3 SubmittersRCV000182162 RCV003532028 RCV006547748

NM_000218.3(KCNQ1):c.1033G>A (p.Gly345Arg)

SNV
Germline

Chr11:2585212

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Single Submitter

CA005045

rs_199473471

2 SubmittersRCV000182164 RCV001382717

NM_000218.3(KCNQ1):c.1049G>T (p.Gly350Val)

SNV
Germline

Chr11:2585228

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA005101

rs_794728524

3 SubmittersRCV000182165 RCV000845364

NM_000218.3(KCNQ1):c.1081C>T (p.Gln361Ter)

SNV
Germline

Chr11:2585260

Pathogenic

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005213

rs_794728571

2 SubmittersRCV000631591 RCV000619144

NM_000218.3(KCNQ1):c.1128+5G>A

SNV
Germline

Chr11:2585312

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome
Hearing impairment
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005367

rs_76735093

9 SubmittersRCV000182177 RCV000764973 RCV001087240 RCV001375390 RCV001842869 RCV003165390

NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr)

SNV
Germline

Chr11:2587583

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA005402

rs_368507376

6 SubmittersRCV000182180 RCV002453655 RCV002516853 RCV005401363

NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn)

SNV
Germline

Chr11:2588797

Conflicting classifications of pathogenicity

Condition: not provided
Cardiac arrhythmia
Long QT syndrome
Short QT syndrome type 2
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA005599

rs_149089817

6 SubmittersRCV000182184 RCV001842871 RCV001852305 RCV002485201 RCV002381589

NM_000218.3(KCNQ1):c.1355G>T (p.Arg452Leu)

SNV
Germline

Chr11:2588816

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA005686

rs_145229963

5 SubmittersRCV000182318 RCV001852308 RCV002381590 RCV006547752

NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter)

SNV
Germline

Chr11:2588844

Pathogenic

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA005715

rs_794728527

4 SubmittersRCV000182178 RCV001068648 RCV002381588

NM_000218.3(KCNQ1):c.1394-1G>T

SNV
Germline

Chr11:2661960

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA005727

rs_775537394

8 SubmittersRCV000182190 RCV000631611 RCV000620890 RCV001842872 RCV004786497

NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=)

SNV
Germline

Chr11:2662043

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype
Atrial fibrillation, familial, 3
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA005791

rs_370676650

10 SubmittersRCV000182073 RCV000472516 RCV000618365 RCV001103008 RCV001103010 RCV001103009 RCV001103011 RCV001701547 RCV001842867

NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter)

SNV
Germline

Chr11:2768851

Pathogenic/Likely pathogenic

Condition: not provided
Congenital long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA005847

rs_794728530

2 SubmittersRCV000182193 RCV000825591

NM_000218.3(KCNQ1):c.1545G>T (p.Lys515Asn)

SNV
Germline

Chr11:2768874

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA005880

rs_794728532

2 SubmittersRCV000182195 RCV001852306

NM_000218.3(KCNQ1):c.1685+1G>A

SNV
Germline

Chr11:2776055

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA006170

rs_794728531

5 SubmittersRCV000182194 RCV000537287 RCV000678937 RCV002399649

NM_000218.3(KCNQ1):c.1686G>T (p.Arg562Ser)

SNV
Germline

Chr11:2776986

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006195

rs_794728535

2 SubmittersRCV000182214 RCV002517776

NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile)

SNV
Germline

Chr11:2777026

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Long QT syndrome
Long QT syndrome 1
Cardiac arrhythmia
Cardiovascular phenotype
Atrial fibrillation, familial, 3
Long QT syndrome 1
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Conflicting Classifications

CA006291

rs_750409379

8 SubmittersRCV000182074 RCV000767090 RCV001048069 RCV000988474 RCV001842868 RCV002399648 RCV003227700

NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe)

SNV
Germline

Chr11:2778005

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 1
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA006336

rs_794728536

4 SubmittersRCV000182222 RCV000234786 RCV002516854

NM_000218.3(KCNQ1):c.1763T>C (p.Ile588Thr)

SNV
Germline

Chr11:2778006

Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006341

rs_794728576

2 SubmittersRCV000182323 RCV003532031

NM_000218.3(KCNQ1):c.1772G>T (p.Arg591Leu)

SNV
Germline

Chr11:2778015

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome 1
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA006375

rs_199472814

4 SubmittersRCV000182226 RCV003319330 RCV006547749

NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter)

SNV
Germline

Chr11:2778023

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome 1
Long QT syndrome
Congenital long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA006380

rs_794728537

9 SubmittersRCV000182227 RCV000770826 RCV000815960 RCV001449795 RCV002399650 RCV005402871

NM_000218.3(KCNQ1):c.1801C>T (p.Gln601Ter)

SNV
Germline

Chr11:2847773

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA006452

rs_794728540

2 SubmittersRCV000182232 RCV001225064

NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter)

SNV
Germline

Chr11:2847958

Conflicting classifications of pathogenicity

Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
not specified
Long QT syndrome
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA006628

rs_11601907

7 SubmittersRCV000259965 RCV000355003 RCV000455796 RCV000539698 RCV000767094 RCV001842874 RCV002415772

NM_000540.3(RYR1):c.9262G>A (p.Val3088Met)

SNV
Germline

Chr19:38512273

Conflicting classifications of pathogenicity

Malignant hypothermia
Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA024973

rs_145044872

11 SubmittersRCV000203140 RCV000383042 RCV000721734 RCV001084220 RCV002225092 RCV003318366

NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)

SNV
Germline

Chr2:178729703

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G
Condition: not provided
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA311880

rs_72648947

9 SubmittersRCV000253609 RCV000469338 RCV000727793 RCV000852903 RCV003317137

NM_001035.3(RYR2):c.5278C>T (p.Arg1760Trp)

SNV
Germline

Chr1:237614406

Conflicting classifications of pathogenicity

Long QT syndrome
Primary familial dilated cardiomyopathy
Cardiomyopathy
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA086863

rs_776550479

6 SubmittersRCV000190230 RCV000845458 RCV001189469 RCV003103744 RCV003996901 RCV004020299

NM_033337.3(CAV3):c.37A>T (p.Ile13Phe)

SNV
Germline

Chr3:8733913

Likely pathogenic

Long QT syndrome

No Assertion Criteria Provided

CA204138

rs_796052171

1 SubmittersRCV000190168

NM_001148.6(ANK2):c.4876A>G (p.Lys1626Glu)

SNV
Germline

Chr4:113353494

Likely pathogenic

Long QT syndrome

No Assertion Criteria Provided

CA204253

rs_755287627

1 SubmittersRCV000190219

NM_001148.6(ANK2):c.6149T>C (p.Ile2050Thr)

SNV
Germline

Chr4:113354767

Likely pathogenic

Long QT syndrome

No Assertion Criteria Provided

CA204256

rs_796052197

1 SubmittersRCV000190220

NM_001148.6(ANK2):c.8123T>C (p.Val2708Ala)

SNV
Germline

Chr4:113356741

Likely pathogenic

Long QT syndrome

No Assertion Criteria Provided

CA204259

rs_796052198

1 SubmittersRCV000190221

NM_000238.4(KCNH2):c.307+2T>A

SNV
Germline

Chr7:150974709

Likely pathogenic

Long QT syndrome

No Assertion Criteria Provided

CA204241

rs_796052196

1 SubmittersRCV000190216

NM_005751.5(AKAP9):c.2295T>A (p.Asp765Glu)

SNV
Germline

Chr7:92002212

Likely pathogenic

Long QT syndrome

No Assertion Criteria Provided

CA204262

rs_796052199

1 SubmittersRCV000190222

NM_005751.5(AKAP9):c.5341T>A (p.Ser1781Thr)

SNV
Germline

Chr7:92045186

Likely pathogenic

Long QT syndrome

No Assertion Criteria Provided

CA204266

rs_796052200

1 SubmittersRCV000190223

NM_000218.3(KCNQ1):c.683+2T>G

SNV
Germline

Chr11:2571405

Likely pathogenic

Long QT syndrome

No Assertion Criteria Provided

CA204129

rs_796052166

1 SubmittersRCV000190163

NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His)

SNV
Germline

Chr3:38550679

Conflicting classifications of pathogenicity

Long QT syndrome 3
not specified
Cardiovascular phenotype
Familial isolated arrhythmogenic right ventricular dysplasia
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA064651

rs_370694515

8 SubmittersRCV000234809 RCV000216249 RCV000247589 RCV000466757 RCV000767135 RCV001842945

NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp)

SNV
Germline

Chr11:2570707

Pathogenic/Likely pathogenic

Long QT syndrome 1
Long QT syndrome
Congenital long QT syndrome
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA10575751

rs_794728568

5 SubmittersRCV000234798 RCV000801452 RCV000825589 RCV001781560 RCV001842943

NM_000218.3(KCNQ1):c.758C>G (p.Ser253Cys)

SNV
Germline

Chr11:2572087

Conflicting classifications of pathogenicity

Long QT syndrome 1
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA10575752

rs_794728513

2 SubmittersRCV000234788 RCV005402880

NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu)

SNV
Germline

Chr11:2585230

Conflicting classifications of pathogenicity

Long QT syndrome 1
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA026986

rs_779383393

5 SubmittersRCV000234806 RCV001557025 RCV001857668

NM_000218.3(KCNQ1):c.1686-2A>G

SNV
Germline

Chr11:2776984

Pathogenic/Likely pathogenic

Long QT syndrome 1
Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10575754

rs_878854350

8 SubmittersRCV000234808 RCV000456381 RCV000621754 RCV000786150

NM_000218.3(KCNQ1):c.1733-1G>C

SNV
Germline

Chr11:2777975

Pathogenic

Long QT syndrome 1
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10575755

rs_878854348

2 SubmittersRCV000234796 RCV000461061

NM_000335.5(SCN5A):c.3944G>T (p.Arg1315Leu)

SNV
Germline

Chr3:38562431

Conflicting classifications of pathogenicity

Long QT syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA062580

rs_765907469

2 SubmittersRCV001729452 RCV003765289

NM_001148.6(ANK2):c.6725C>T (p.Thr2242Met)

SNV
Germline

Chr4:113355343

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA337994

rs_376408404

2 SubmittersRCV000198549 RCV004639174

NM_001148.6(ANK2):c.8116G>C (p.Glu2706Gln)

SNV
Germline

Chr4:113356734

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA339295

rs_142652341

4 SubmittersRCV000200403 RCV000428957 RCV002415854 RCV002478709

NM_001148.6(ANK2):c.8144C>T (p.Ser2715Phe)

SNV
Germline

Chr4:113356762

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
Meniere disease

Criteria Provided
Conflicting Classifications

CA336737

rs_147619875

6 SubmittersRCV000196821 RCV000486245 RCV001145633 RCV002415855 RCV004567438

NM_000238.4(KCNH2):c.2739G>A (p.Ala913=)

SNV
Germline

Chr7:150947832

Conflicting classifications of pathogenicity

Long QT syndrome
not specified
Cardiovascular phenotype
Long QT syndrome 2
Cardiac arrhythmia
Condition: not provided
KCNH2-related disorder

Criteria Provided
Conflicting Classifications

CA034686

rs_776097223

8 SubmittersRCV000200042 RCV000437620 RCV000621352 RCV001160953 RCV001842949 RCV003221857 RCV004553090

NM_000238.4(KCNH2):c.1320G>T (p.Pro440=)

SNV
Germline

Chr7:150952662

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided
Long QT syndrome 2
not specified
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA027675

rs_144926928

11 SubmittersRCV000199781 RCV000247948 RCV000591334 RCV001095199 RCV001797676 RCV001842946

NM_005751.5(AKAP9):c.1396C>T (p.Arg466Trp)

SNV
Germline

Chr7:92001313

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA339149

rs_373876340

3 SubmittersRCV000200194 RCV002390537 RCV003884400

NM_000218.3(KCNQ1):c.1152C>T (p.Ala384=)

SNV
Germline

Chr11:2587593

Conflicting classifications of pathogenicity

Long QT syndrome
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Atrial fibrillation, familial, 3
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA027413

rs_144615901

6 SubmittersRCV000198522 RCV001108126 RCV001108127 RCV001108128 RCV001108125 RCV001682912 RCV001842947 RCV002363014

NM_000719.7(CACNA1C):c.5149G>A (p.Ala1717Thr)

SNV
Germline

Chr12:2679501

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA337986

rs_200865354

4 SubmittersRCV000198546 RCV000617242 RCV001722107 RCV005404381

NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser)

SNV
Germline

Chr12:2691054

Conflicting classifications of pathogenicity

Condition: not provided
Timothy syndrome
Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA339207

rs_201090446

11 SubmittersRCV000357942 RCV000519629 RCV000617693 RCV001084051 RCV001842950 RCV003955212

NM_000238.4(KCNH2):c.1786C>G (p.Pro596Ala)

SNV
Germline

Chr7:150951607

Pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA279835

rs_863225288

1 SubmittersRCV000202321

NM_000218.3(KCNQ1):c.1970A>G (p.Asn657Ser)

SNV
Germline

Chr11:2847942

Conflicting classifications of pathogenicity

Long QT syndrome 1
Cardiac arrhythmia
Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA034034

rs_552087428

5 SubmittersRCV000203189 RCV001842952 RCV002415864 RCV003765309 RCV006270357

NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter)

SNV
Germline

Chr7:150948861

Pathogenic

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Congenital long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA033069

rs_773724817

7 SubmittersRCV000203902 RCV000414460 RCV002453742 RCV004017486

NM_000238.4(KCNH2):c.2127C>T (p.Asn709=)

SNV
Germline

Chr7:150950939

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 2
Cardiac arrhythmia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA030668

rs_768572372

6 SubmittersRCV000206657 RCV000620032 RCV001095277 RCV001842954 RCV006439780

NM_005751.5(AKAP9):c.3223T>C (p.Leu1075=)

SNV
Germline

Chr7:92003140

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Long QT syndrome
not specified
Long QT syndrome 11
Congenital long QT syndrome

Criteria Provided
Conflicting Classifications

CA349760

rs_143712699

11 SubmittersRCV000618805 RCV000755805 RCV001084713 RCV001293562 RCV002253290 RCV005863047

NM_000218.3(KCNQ1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr11:2445099

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA350383

rs_199473441

1 SubmittersRCV000206337

NM_000719.7(CACNA1C):c.5408G>A (p.Arg1803Gln)

SNV
Germline

Chr12:2679760

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349777

rs_201918158

2 SubmittersRCV000205645 RCV002345730

NM_000335.5(SCN5A):c.4129G>A (p.Val1377Met)

SNV
Germline

Chr3:38560260

Conflicting classifications of pathogenicity

Brugada syndrome
Cardiac arrhythmia
Condition: not provided
Long QT syndrome 3

Criteria Provided
Conflicting Classifications

CA062884

rs_748312802

5 SubmittersRCV000208068 RCV001842962 RCV003541646 RCV004786556

NM_001148.6(ANK2):c.5509G>A (p.Ala1837Thr)

SNV
Germline

Chr4:113354127

Conflicting classifications of pathogenicity

Cardiac arrest
Condition: not provided
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA068274

rs_199527708

8 SubmittersRCV000208071 RCV000422285 RCV000689369 RCV001149831 RCV002345747 RCV005434704

NM_001148.6(ANK2):c.5609C>T (p.Ser1870Leu)

SNV
Germline

Chr4:113354227

Conflicting classifications of pathogenicity

Long QT syndrome 2
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA353985

rs_869025360

4 SubmittersRCV000208332 RCV001853293 RCV002470815 RCV005659868

NM_001148.6(ANK2):c.7458C>G (p.His2486Gln)

SNV
Germline

Chr4:113356076

Conflicting classifications of pathogenicity

Cardiac arrest
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA070420

rs_776972443

3 SubmittersRCV000208277 RCV000631622 RCV002381714

NM_001148.6(ANK2):c.9853A>C (p.Ile3285Leu)

SNV
Germline

Chr4:113358471

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA353919

rs_144603824

7 SubmittersRCV000208148 RCV000617966 RCV001145743 RCV001540397

NM_001148.6(ANK2):c.10881T>G (p.His3627Gln)

SNV
Germline

Chr4:113363462

Conflicting classifications of pathogenicity

Brugada syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Intellectual disability
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA074011

rs_148405740

7 SubmittersRCV000208430 RCV000412995 RCV000619380 RCV000764530 RCV001252393 RCV001078702

NM_000238.4(KCNH2):c.2692+8G>A

SNV
Germline

Chr7:150948436

Conflicting classifications of pathogenicity

Long QT syndrome

Criteria Provided
Conflicting Classifications

CA034522

rs_200032281

2 SubmittersRCV000208265

NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile)

SNV
Germline

Chr7:150951505

Conflicting classifications of pathogenicity

Long QT syndrome 2
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA029665

rs_199472958

8 SubmittersRCV000208259 RCV000781487 RCV002408905 RCV006547819 RCV006435014

NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala)

SNV
Germline

Chr7:150951519

Likely pathogenic

Long QT syndrome 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA353893

rs_199472951

2 SubmittersRCV000208076 RCV005400714

NM_000238.4(KCNH2):c.77-5C>T

SNV
Germline

Chr7:150974946

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA353900

rs_72549419

6 SubmittersRCV000208081 RCV001842959 RCV002408906 RCV006439788

NM_005751.5(AKAP9):c.8656A>G (p.Ile2886Val)

SNV
Germline

Chr7:92084649

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA354883

rs_143283097

4 SubmittersRCV000208371 RCV000622053 RCV001853291

NM_005751.5(AKAP9):c.9112C>T (p.Arg3038Cys)

SNV
Germline

Chr7:92086315

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA354841

rs_753467156

3 SubmittersRCV000208014 RCV001853292 RCV005338111

NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu)

SNV
Germline

Chr12:2593252

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA353931

rs_750835733

3 SubmittersRCV000208178 RCV000782178

NM_003098.3(SNTA1):c.452C>T (p.Ala151Val)

SNV
Germline

Chr20:33438885

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA354880

rs_772936861

3 SubmittersRCV000208331 RCV002336582 RCV003765347

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

SNV
Germline

Chr1:115705257

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1023708

rs_200643387

5 SubmittersRCV000213801 RCV001093808 RCV002372226 RCV003318370 RCV002517534

NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=)

SNV
Germline

Chr3:38550765

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064557

rs_560476223

8 SubmittersRCV000218563 RCV000375205 RCV000387732 RCV000268692 RCV000333215 RCV000329986 RCV001094932 RCV002347832 RCV001842980 RCV003654228

NM_000218.3(KCNQ1):c.1795-4G>A

SNV
Germline

Chr11:2847763

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiac arrhythmia
KCNQ1-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA033192

rs_769865006

7 SubmittersRCV000215526 RCV000538761 RCV001842971 RCV004530297 RCV005582275

NM_001148.6(ANK2):c.1189-5C>T

SNV
Germline

Chr4:113258045

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3050219

rs_779990637

3 SubmittersRCV000218107 RCV002057226 RCV005365169

NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr)

SNV
Germline

Chr4:113358144

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051931

rs_138928206

9 SubmittersRCV000223719 RCV000230181 RCV000246497 RCV000625127 RCV000767141

NM_000238.4(KCNH2):c.1805T>C (p.Leu602Pro)

SNV
Germline

Chr7:150951588

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10581151

rs_876661348

4 SubmittersRCV000223929 RCV000464070 RCV000617874 RCV001546262

NM_005751.5(AKAP9):c.8189A>G (p.Gln2730Arg)

SNV
Germline

Chr7:92083198

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Long QT syndrome 11
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4337448

rs_80191629

4 SubmittersRCV000223781 RCV000250014 RCV003224230 RCV003532061

NM_005751.5(AKAP9):c.10118C>G (p.Ser3373Cys)

SNV
Germline

Chr7:92097077

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337897

rs_140470576

3 SubmittersRCV000223934 RCV001854767 RCV003298286

NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile)

SNV
Germline

Chr12:2610661

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Short QT Syndrome 4
Cardiovascular phenotype
Timothy syndrome
Condition: not provided
Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8
Timothy syndrome
arrhythmogenic disorders
Timothy syndrome
QT prolongation and arrhythmias in the absence of other syndromic features
arrhythmogenic disorders
short QT interval with or without a Brugada syndrome ECG pattern

Criteria Provided
Conflicting Classifications

CA6389278

rs_373124557

11 SubmittersRCV000223923 RCV000463570 RCV000415626 RCV000618584 RCV000656705 RCV000725545 RCV002478822 RCV005252825 RCV005251101

NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly)

SNV
Germline

Chr6:7583531

Conflicting classifications of pathogenicity

not specified
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiomyopathy
Condition: not provided
Long QT syndrome
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA047213

rs_755069593

8 SubmittersRCV000223906 RCV000641824 RCV001524580 RCV001557006 RCV003318371 RCV003390975 RCV003998652 RCV004020712

NM_000335.5(SCN5A):c.5451C>T (p.Ala1817=)

SNV
Germline

Chr3:38550918

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064428

rs_370114378

9 SubmittersRCV000253595 RCV000274654 RCV000275996 RCV000306654 RCV000363635 RCV000366966 RCV000430845 RCV001094933 RCV001532482 RCV001843005

NM_033337.3(CAV3):c.234G>A (p.Thr78=)

SNV
Germline

Chr3:8745645

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
Long QT syndrome
CAV3-related disorder

Criteria Provided
Conflicting Classifications

CA2236339

rs_148846096

7 SubmittersRCV000253071 RCV000273454 RCV000726534 RCV001081271 RCV004752812

NM_001148.6(ANK2):c.2622A>G (p.Ser874=)

SNV
Germline

Chr4:113311328

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA3050624

rs_764486532

4 SubmittersRCV000617713 RCV001148157 RCV001413864 RCV001526990

NM_001148.6(ANK2):c.6912T>C (p.Thr2304=)

SNV
Germline

Chr4:113355530

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3051491

rs_190680846

6 SubmittersRCV000227955 RCV000250858 RCV001148377 RCV001722224 RCV001844096

NM_001148.6(ANK2):c.7105G>T (p.Val2369Phe)

SNV
Germline

Chr4:113355723

Conflicting classifications of pathogenicity

Long QT syndrome
Primary dilated cardiomyopathy
Condition: not provided
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051532

rs_758054052

5 SubmittersRCV000230793 RCV000853461 RCV001785525 RCV002478848 RCV002365186

NM_001148.6(ANK2):c.8673C>T (p.Pro2891=)

SNV
Germline

Chr4:113357291

Conflicting classifications of pathogenicity

Long QT syndrome
not specified
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
Cardiovascular phenotype
ANK2-related disorder

Criteria Provided
Conflicting Classifications

CA3051810

rs_374884110

7 SubmittersRCV000228297 RCV000605893 RCV001094892 RCV001722225 RCV002372268 RCV003977652

NM_001148.6(ANK2):c.9279C>G (p.Thr3093=)

SNV
Germline

Chr4:113357897

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
ANK2-related disorder

Criteria Provided
Conflicting Classifications

CA3051896

rs_148851013

5 SubmittersRCV000229522 RCV000620891 RCV001094763 RCV001706253 RCV004745297

NM_000238.4(KCNH2):c.2944G>A (p.Asp982Asn)

SNV
Germline

Chr7:150947627

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 2
Cardiac arrhythmia
Condition: not provided
Cardiovascular phenotype
Short QT syndrome type 1
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA035595

rs_569452580

8 SubmittersRCV000232149 RCV000987998 RCV001842997 RCV002273994 RCV002433951 RCV002487047

NM_000238.4(KCNH2):c.1644C>T (p.Ala548=)

SNV
Germline

Chr7:150951749

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 2
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA029096

rs_370764268

6 SubmittersRCV000226582 RCV000619734 RCV001159679 RCV001722210 RCV001842993

NM_000238.4(KCNH2):c.1528C>T (p.Leu510=)

SNV
Germline

Chr7:150952454

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
not specified
Long QT syndrome 2
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA028328

rs_75648145

11 SubmittersRCV000232077 RCV000253513 RCV000597187 RCV001159684 RCV001658052 RCV001842991

NM_000238.4(KCNH2):c.1479C>A (p.Tyr493Ter)

SNV
Germline

Chr7:150952503

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA10582467

rs_878853771

1 SubmittersRCV000228054

NM_005751.5(AKAP9):c.2311G>A (p.Ala771Thr)

SNV
Germline

Chr7:92002228

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided
not specified
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4336114

rs_148267537

6 SubmittersRCV000234399 RCV000617362 RCV000998827 RCV002282078 RCV002503910

NM_005751.5(AKAP9):c.5048C>T (p.Thr1683Met)

SNV
Germline

Chr7:92042176

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Long QT syndrome 11
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336715

rs_146305558

5 SubmittersRCV000231836 RCV000255316 RCV000764727 RCV002338738

NM_005751.5(AKAP9):c.9443C>T (p.Thr3148Met)

SNV
Germline

Chr7:92093181

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10582549

rs_878854812

2 SubmittersRCV000230579 RCV006342190

NM_000890.5(KCNJ5):c.1124G>A (p.Arg375Gln)

SNV
Germline

Chr11:128916595

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Familial hyperaldosteronism type III
Long QT syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6358001

rs_530587789

4 SubmittersRCV000231570 RCV002433959 RCV002487053 RCV005628806

NM_000218.3(KCNQ1):c.569G>C (p.Arg190Pro)

SNV
Germline

Chr11:2570719

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA10582882

rs_120074178

1 SubmittersRCV000229159

NM_000218.3(KCNQ1):c.1111G>C (p.Ala371Pro)

SNV
Germline

Chr11:2585290

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA10582883

rs_199473412

1 SubmittersRCV000230409

NM_000218.3(KCNQ1):c.1665C>T (p.Arg555=)

SNV
Germline

Chr11:2776034

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA10582886

rs_878853755

2 SubmittersRCV001495682 RCV005401388

NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)

SNV
Germline

Chr11:2847847

Conflicting classifications of pathogenicity

Long QT syndrome
Atrial fibrillation, familial, 3
Cardiovascular phenotype
Jervell and Lange-Nielsen syndrome 1
Condition: not provided
Short QT syndrome type 2
Long QT syndrome 1
Cardiac arrhythmia
not specified
KCNQ1-related disorder

Criteria Provided
Conflicting Classifications

CA033482

rs_112113213

9 SubmittersRCV000231907 RCV000309382 RCV000253803 RCV000313609 RCV000341550 RCV000396200 RCV001093997 RCV001842987 RCV002282069 RCV004532836

NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile)

SNV
Germline

Chr12:2688658

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Timothy syndrome
Long QT syndrome 8
Brugada syndrome 3
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA6390043

rs_532551057

5 SubmittersRCV000232392 RCV000619708 RCV002503893 RCV003389323

NM_000719.7(CACNA1C):c.6090C>T (p.His2030=)

SNV
Germline

Chr12:2688752

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6390077

rs_750835120

3 SubmittersRCV000388329 RCV001413434 RCV002354645

NM_000218.3(KCNQ1):c.349C>T (p.Pro117Ser)

SNV
Germline

Chr11:2445447

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA10586353

rs_886037906

1 SubmittersRCV000240629

NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=)

SNV
Germline

Chr12:2611932

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389304

rs_370576211

7 SubmittersRCV000245282 RCV000726270 RCV001078611 RCV002347952

NM_000335.5(SCN5A):c.3315C>T (p.Ala1105=)

SNV
Germline

Chr3:38579406

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA061625

rs_377603706

6 SubmittersRCV000247018 RCV001146929 RCV001146928 RCV001146924 RCV001146925 RCV001146926 RCV001146927 RCV001561122 RCV001843036

NM_001148.6(ANK2):c.997C>T (p.Leu333=)

SNV
Germline

Chr4:113255741

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
not specified
Cardiac arrhythmia, ankyrin-B-related
ANK2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3050174

rs_201024064

6 SubmittersRCV000246297 RCV000342926 RCV000423734 RCV001094855 RCV003955410 RCV005639021

NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu)

SNV
Germline

Chr4:113353074

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
ANK2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3051107

rs_149678604

8 SubmittersRCV000253621 RCV000437323 RCV000477573 RCV000764525 RCV004745313 RCV005400722

NM_001148.6(ANK2):c.5231C>A (p.Ala1744Asp)

SNV
Germline

Chr4:113353849

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Long QT syndrome
Intellectual disability
not specified

Criteria Provided
Conflicting Classifications

CA3051190

rs_147706514

5 SubmittersRCV000243394 RCV000498222 RCV001239833 RCV001252394 RCV001194188

NM_001148.6(ANK2):c.8892C>G (p.Ile2964Met)

SNV
Germline

Chr4:113357510

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051842

rs_62313245

5 SubmittersRCV000242675 RCV000285338 RCV000487226 RCV000764528

NM_001148.6(ANK2):c.9704C>T (p.Pro3235Leu)

SNV
Germline

Chr4:113358322

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3051971

rs_748801701

2 SubmittersRCV000242982 RCV001304148

NM_001148.6(ANK2):c.9825T>G (p.Asp3275Glu)

SNV
Germline

Chr4:113358443

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3051987

rs_149043752

4 SubmittersRCV000247736 RCV000804212 RCV000998282 RCV005406995

NM_001148.6(ANK2):c.10805G>A (p.Arg3602Gln)

SNV
Germline

Chr4:113363386

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
Meniere disease

Criteria Provided
Conflicting Classifications

CA3052138

rs_374991526

5 SubmittersRCV000243213 RCV000631583 RCV002487152 RCV003326393 RCV004567805

NM_000238.4(KCNH2):c.212G>A (p.Gly71Glu)

SNV
Germline

Chr7:150974806

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10587642

rs_886039183

2 SubmittersRCV000243747 RCV002518733

NM_005751.5(AKAP9):c.4396G>A (p.Gly1466Arg)

SNV
Germline

Chr7:92038476

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336574

rs_376262014

2 SubmittersRCV000247725 RCV000819090

NM_005751.5(AKAP9):c.7628T>C (p.Leu2543Pro)

SNV
Germline

Chr7:92079761

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome 11
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4337318

rs_373320584

3 SubmittersRCV000252644 RCV002487140 RCV002518678

NM_005751.5(AKAP9):c.7775T>A (p.Leu2592Gln)

SNV
Germline

Chr7:92079908

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4337342

rs_754011064

2 SubmittersRCV000248997 RCV001214283

NM_005751.5(AKAP9):c.10714-3C>T

SNV
Germline

Chr7:92099684

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4338015

rs_763444110

2 SubmittersRCV000243591 RCV005090291

NM_005751.5(AKAP9):c.10880G>A (p.Gly3627Glu)

SNV
Germline

Chr7:92099853

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4338037

rs_753656531

2 SubmittersRCV000243700 RCV001231910

NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter)

SNV
Germline

Chr11:2570714

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Long QT syndrome
Condition: not provided
Long QT syndrome 1
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA10587720

rs_530612385

6 SubmittersRCV000253252 RCV001859449 RCV002464154 RCV003326392 RCV005401408

NM_000218.3(KCNQ1):c.1340C>A (p.Pro447His)

SNV
Germline

Chr11:2588801

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA028729

rs_143149582

3 SubmittersRCV000241770 RCV001035204 RCV003591725

NM_000719.7(CACNA1C):c.107C>T (p.Ala36Val)

SNV
Germline

Chr12:2115281

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6388390

rs_755028000

3 SubmittersRCV000245532 RCV001063656 RCV002461052

NM_000719.7(CACNA1C):c.459C>T (p.Asn153=)

SNV
Germline

Chr12:2120412

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA6388454

rs_367638447

5 SubmittersRCV000245971 RCV001087981 RCV003165700 RCV004734909

NM_000719.7(CACNA1C):c.724C>T (p.Leu242=)

SNV
Germline

Chr12:2457673

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6388509

rs_200800133

7 SubmittersRCV000248176 RCV000379802 RCV001084888 RCV004782330

NM_000719.7(CACNA1C):c.1420G>A (p.Val474Ile)

SNV
Germline

Chr12:2549972

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA6388731

rs_765581751

2 SubmittersRCV000248178 RCV001326287

NM_000719.7(CACNA1C):c.4075-4C>A

SNV
Germline

Chr12:2653831

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6389468

rs_369044605

4 SubmittersRCV000253253 RCV000471974 RCV001422387 RCV005404458

NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg)

SNV
Germline

Chr12:2686232

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6389963

rs_186867242

3 SubmittersRCV000248947 RCV000866145 RCV001194038

NM_000719.7(CACNA1C):c.6007G>A (p.Gly2003Arg)

SNV
Germline

Chr12:2688669

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA10587749

rs_886038918

2 SubmittersRCV000245759 RCV001854973

NM_003098.3(SNTA1):c.566C>T (p.Ser189Leu)

SNV
Germline

Chr20:33417854

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome 12
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA9817191

rs_144860423

5 SubmittersRCV000251711 RCV000624991 RCV000587989 RCV001213908

NM_003098.3(SNTA1):c.619C>T (p.Arg207Trp)

SNV
Germline

Chr20:33417801

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9817184

rs_139537086

4 SubmittersRCV000246676 RCV000863151 RCV001143392 RCV001589306

NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln)

SNV
Germline

Chr20:33417800

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Becker muscular dystrophy
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Long QT syndrome 12
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA9817183

rs_771180054

5 SubmittersRCV000245286 RCV000578008 RCV000577950 RCV000578061 RCV000578006 RCV001270098 RCV001859463

NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu)

SNV
Germline

Chr20:33443400

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
not specified
Long QT syndrome 12
Ventricular tachycardia
Condition: not provided
SNTA1-related disorder

Criteria Provided
Conflicting Classifications

CA9817266

rs_572545726

12 SubmittersRCV000252164 RCV000406481 RCV000434724 RCV000624992 RCV000852950 RCV000857623 RCV003920009

NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu)

SNV
Germline

ChrX:32346044

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
Long QT syndrome
Duchenne muscular dystrophy
Dilated cardiomyopathy 3B
Dystrophin deficiency
Cardiomyopathy
Duchenne muscular dystrophy
Becker muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10378672

rs_754765424

12 SubmittersRCV000247130 RCV000369939 RCV000468573 RCV000853039 RCV001085412 RCV001165782 RCV001835746

NM_033337.3(CAV3):c.303G>C (p.Trp101Cys)

SNV
Germline

Chr3:8745714

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA10588372

rs_886039325

2 SubmittersRCV000256116 RCV003647764

NM_000238.4(KCNH2):c.2145+1G>A

SNV
Germline

Chr7:150950920

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA10588421

rs_886039385

3 SubmittersRCV000255301 RCV000477020 RCV002429194

NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter)

SNV
Germline

Chr11:2570663

Pathogenic/Likely pathogenic

Long QT syndrome 1
Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA10588516

rs_139042529

7 SubmittersRCV000477871 RCV000617940 RCV000814153 RCV003591726

NM_000219.6(KCNE1):c.262C>T (p.Gln88Ter)

SNV
Germline

Chr21:34449373

Likely pathogenic

Condition: not provided
Long QT syndrome 5

Criteria Provided
Single Submitter

CA10588708

rs_750349088

2 SubmittersRCV000256077 RCV004777644

NM_000238.4(KCNH2):c.1238T>G (p.Leu413Arg)

SNV
Unknown

Chr7:150952744

Likely pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA10602712

rs_199472893

1 SubmittersRCV000258955

NM_033337.3(CAV3):c.244G>A (p.Val82Ile)

SNV
Germline

Chr3:8745655

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiomyopathy
Condition: not provided
Long QT syndrome 1
Cardiovascular phenotype
See cases

Criteria Provided
Conflicting Classifications

CA2236342

rs_112626848

9 SubmittersRCV000457990 RCV000769174 RCV000726760 RCV000987089 RCV002446508 RCV002252075

NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro)

SNV
Germline

Chr12:2685833

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 8
Timothy syndrome
Brugada syndrome 3

Criteria Provided
Conflicting Classifications

CA6389921

rs_542914369

4 SubmittersRCV000305564 RCV000538195 RCV002347983 RCV002487172

NM_000218.3(KCNQ1):c.691C>A (p.Arg231Ser)

SNV
Germline

Chr11:2572020

Pathogenic

Condition: not provided
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10603201

rs_199473457

2 SubmittersRCV000289174 RCV003319344

NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met)

SNV
Germline

Chr12:2567572

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6388841

rs_572234918

4 SubmittersRCV000983967 RCV001722383 RCV002401971

NM_000719.7(CACNA1C):c.4727-6C>T

SNV
Germline

Chr12:2674535

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA10603958

rs_886042224

2 SubmittersRCV000277918 RCV001086045

NM_033337.3(CAV3):c.399C>T (p.Phe133=)

SNV
Germline

Chr3:8745810

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
CAV3-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2236360

rs_769859957

7 SubmittersRCV000299841 RCV001086486 RCV002374453 RCV003920043 RCV003401236

NM_000719.7(CACNA1C):c.363C>T (p.Val121=)

SNV
Germline

Chr12:2115537

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA10604028

rs_886042281

3 SubmittersRCV000283453 RCV002450804 RCV002059098

NM_000719.7(CACNA1C):c.5140G>A (p.Gly1714Ser)

SNV
Germline

Chr12:2679492

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA6389716

rs_533676935

3 SubmittersRCV000305674 RCV000631696

NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=)

SNV
Germline

Chr12:2512935

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6388685

rs_377643814

3 SubmittersRCV000284044 RCV000541239 RCV002379112

NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=)

SNV
Germline

Chr12:2608685

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6389246

rs_754527651

5 SubmittersRCV000352727 RCV000619626 RCV001081369 RCV001256871

NM_000152.5(GAA):c.362A>G (p.Gln121Arg)

SNV
Germline

Chr17:80104948

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease, type II
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA8814857

rs_150284874

8 SubmittersRCV000403362 RCV000815535 RCV000852726

NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=)

SNV
Germline

Chr12:2585427

Conflicting classifications of pathogenicity

Condition: not provided
CACNA1C-related disorder
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA6388959

rs_374857905

5 SubmittersRCV000377275 RCV003949879 RCV002450819 RCV001085791

NM_000719.7(CACNA1C):c.1752C>T (p.Phe584=)

SNV
Germline

Chr12:2567651

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA10605814

rs_886043677

2 SubmittersRCV000352122 RCV002059224

NM_000218.3(KCNQ1):c.759C>T (p.Ser253=)

SNV
Germline

Chr11:2572088

Conflicting classifications of pathogenicity

Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA040285

rs_752457145

6 SubmittersRCV000726364 RCV001843042 RCV002392812 RCV001489162

NM_000218.3(KCNQ1):c.879C>A (p.Arg293=)

SNV
Germline

Chr11:2572944

Conflicting classifications of pathogenicity

Cardiac arrhythmia
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA041155

rs_181106858

7 SubmittersRCV001843043 RCV000726365 RCV002059270 RCV003165770

NM_000218.3(KCNQ1):c.1685+9G>A

SNV
Germline

Chr11:2776063

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA031946

rs_545535640

3 SubmittersRCV000313439 RCV002059302

NM_000335.5(SCN5A):c.*889C>A

SNV
Germline

Chr3:38549432

Conflicting classifications of pathogenicity

Sick sinus syndrome 1
Brugada syndrome 1
Long QT syndrome 3
Dilated cardiomyopathy 1E
Ventricular fibrillation, paroxysmal familial, type 1
Progressive familial heart block, type 1A

Criteria Provided
Conflicting Classifications

CA10615806

rs_546849670

1 SubmittersRCV000300018 RCV000335131 RCV000368862 RCV000370122 RCV000401083 RCV000394005

NM_000335.5(SCN5A):c.5283C>T (p.Ile1761=)

SNV
Germline

Chr3:38551086

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064293

rs_375323548

6 SubmittersRCV000259198 RCV000286408 RCV000316830 RCV000322397 RCV000378431 RCV001094903 RCV001706556 RCV001841258 RCV003298401

NM_000335.5(SCN5A):c.3388-7T>C

SNV
Germline

Chr3:38576788

Conflicting classifications of pathogenicity

Long QT syndrome 3
Progressive familial heart block, type 1A
Sick sinus syndrome 1
Ventricular fibrillation, paroxysmal familial, type 1
Brugada syndrome
Dilated cardiomyopathy 1E
not specified
Brugada syndrome 1
Cardiac arrhythmia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA061768

rs_41310769

7 SubmittersRCV000298438 RCV000320727 RCV000359169 RCV000356746 RCV000360190 RCV000398226 RCV000616279 RCV001094782 RCV001841260 RCV003654254

NM_000335.5(SCN5A):c.1800G>A (p.Val600=)

SNV
Germline

Chr3:38603802

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA058828

rs_758101066

5 SubmittersRCV000284015 RCV000322574 RCV000344907 RCV000379578 RCV000383239 RCV001094882 RCV001841267 RCV002411239 RCV003539875

NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=)

SNV
Germline

Chr3:38551545

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10616335

rs_886058460

6 SubmittersRCV000267294 RCV000297895 RCV000324651 RCV000355048 RCV000355831 RCV000788894 RCV001094905 RCV001841259 RCV002328870

NM_000335.5(SCN5A):c.1491T>G (p.Ser497=)

SNV
Germline

Chr3:38604756

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA057952

rs_761505485

6 SubmittersRCV000287542 RCV000309929 RCV000314087 RCV000366972 RCV000403411 RCV000403579 RCV001841268 RCV003343792 RCV003765993

NM_001148.6(ANK2):c.468G>A (p.Gln156=)

SNV
Germline

Chr4:113232244

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA10616930

rs_886059008

2 SubmittersRCV000275798 RCV002520198

NM_001148.6(ANK2):c.670-10A>G

SNV
Germline

Chr4:113237589

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA3050080

rs_374372032

3 SubmittersRCV001094830 RCV000385770 RCV005404528

NM_001148.6(ANK2):c.981A>G (p.Ala327=)

SNV
Germline

Chr4:113249853

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3050156

rs_746328450

2 SubmittersRCV000288004 RCV005055914

NM_001148.6(ANK2):c.8395G>A (p.Asp2799Asn)

SNV
Germline

Chr4:113357013

Conflicting classifications of pathogenicity

Long QT syndrome
See cases
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051762

rs_374145576

8 SubmittersRCV000273717 RCV001782856 RCV001094890 RCV001550995 RCV005365257

NM_001148.6(ANK2):c.8814T>A (p.Ser2938=)

SNV
Germline

Chr4:113357432

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051835

rs_759775013

3 SubmittersRCV000381999 RCV001444773 RCV002374591

NM_001148.6(ANK2):c.9180A>G (p.Lys3060=)

SNV
Germline

Chr4:113357798

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051881

rs_753698480

3 SubmittersRCV000401030 RCV002523461 RCV003437102

NM_001148.6(ANK2):c.597C>T (p.Ala199=)

SNV
Germline

Chr4:113237100

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3050055

rs_749414257

3 SubmittersRCV000330858 RCV001459483 RCV004021937

NM_001148.6(ANK2):c.4618G>T (p.Ala1540Ser)

SNV
Germline

Chr4:113353236

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051126

rs_767390750

3 SubmittersRCV000269352 RCV001094873 RCV002338945

NM_001148.6(ANK2):c.5860G>T (p.Ala1954Ser)

SNV
Germline

Chr4:113354478

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051322

rs_371556220

4 SubmittersRCV000294520 RCV001299770 RCV002356477

NM_001148.6(ANK2):c.11300A>T (p.Glu3767Val)

SNV
Germline

Chr4:113367833

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Ventricular tachycardia
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3052256

rs_773893598

4 SubmittersRCV000282505 RCV000852982 RCV001372879 RCV003168526

NM_000335.5(SCN5A):c.*677G>A

SNV
Germline

Chr3:38549644

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1E
Ventricular fibrillation, paroxysmal familial, type 1
Progressive familial heart block, type 1A
Sick sinus syndrome 1
Brugada syndrome 1
Long QT syndrome 3

Criteria Provided
Conflicting Classifications

CA10618377

rs_45458203

1 SubmittersRCV000294946 RCV000346247 RCV000352270 RCV000381197 RCV000386948 RCV000395203

NM_000335.5(SCN5A):c.2181C>T (p.Ile727=)

SNV
Germline

Chr3:38597810

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059878

rs_186942072

6 SubmittersRCV000278204 RCV000284198 RCV000319322 RCV000331956 RCV000373957 RCV000372797 RCV000617534 RCV001841265 RCV003765992

NM_000335.5(SCN5A):c.*920G>C

SNV
Germline

Chr3:38549401

Conflicting classifications of pathogenicity

Long QT syndrome 3
Dilated cardiomyopathy 1E
Progressive familial heart block, type 1A
Sick sinus syndrome 1
Ventricular fibrillation, paroxysmal familial, type 1
Brugada syndrome 1

Criteria Provided
Conflicting Classifications

CA10618676

rs_561475141

1 SubmittersRCV000283377 RCV000291324 RCV000327663 RCV000343041 RCV000377939 RCV000394013

NM_000335.5(SCN5A):c.4668C>T (p.Ile1556=)

SNV
Germline

Chr3:38554421

Conflicting classifications of pathogenicity

Ventricular fibrillation, paroxysmal familial, type 1
Sick sinus syndrome 1
Long QT syndrome 3
Dilated cardiomyopathy 1E
Progressive familial heart block, type 1A
Brugada syndrome 1
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA10618698

rs_886058461

3 SubmittersRCV000280802 RCV000298485 RCV000295830 RCV000338052 RCV000348380 RCV000405107 RCV005090551 RCV006549975

NM_000335.5(SCN5A):c.2151G>A (p.Pro717=)

SNV
Germline

Chr3:38597840

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059839

rs_191840835

10 SubmittersRCV000286972 RCV000366199 RCV000403253 RCV000403015 RCV000407977 RCV000435714 RCV000713136 RCV001094872 RCV001841266 RCV002429309

NM_001148.6(ANK2):c.198C>T (p.Asn66=)

SNV
Germline

Chr4:113196379

Conflicting classifications of pathogenicity

Long QT syndrome
not specified
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3049967

rs_146964054

5 SubmittersRCV000388930 RCV000425431 RCV001094776 RCV002418208 RCV006446984

NM_001148.6(ANK2):c.56G>A (p.Ser19Asn)

SNV
Germline

Chr4:113049784

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3049843

rs_369260005

4 SubmittersRCV000315698 RCV001342296 RCV001584061 RCV002348100

NM_001148.6(ANK2):c.1881+12A>C

SNV
Germline

Chr4:113278570

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3050398

rs_763612449

3 SubmittersRCV000407956 RCV001594982 RCV002057906

NM_001148.6(ANK2):c.1896G>A (p.Pro632=)

SNV
Germline

Chr4:113282689

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3050409

rs_140761981

3 SubmittersRCV000298718 RCV001400543 RCV002411240

NM_001148.6(ANK2):c.2190A>T (p.Thr730=)

SNV
Germline

Chr4:113288399

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA3050486

rs_775084946

4 SubmittersRCV000368730 RCV001485626 RCV002429311 RCV005434857

NM_001148.6(ANK2):c.8759A>G (p.Tyr2920Cys)

SNV
Germline

Chr4:113357377

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051828

rs_781185140

4 SubmittersRCV000343849 RCV001094893 RCV005418090 RCV002374590

NM_001148.6(ANK2):c.9679A>C (p.Thr3227Pro)

SNV
Germline

Chr4:113358297

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
Condition: not provided
Brugada syndrome
not specified

Criteria Provided
Conflicting Classifications

CA3051962

rs_140604600

7 SubmittersRCV000370012 RCV001094813 RCV002374592 RCV003884504 RCV005355669 RCV005897758

NM_001148.6(ANK2):c.5329G>C (p.Val1777Leu)

SNV
Germline

Chr4:113353947

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10619947

rs_886059014

4 SubmittersRCV000279511 RCV001094915 RCV001753819 RCV002348101

NM_001148.6(ANK2):c.7525C>T (p.Leu2509=)

SNV
Germline

Chr4:113356143

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
Cardiovascular phenotype
ANK2-related disorder

Criteria Provided
Conflicting Classifications

CA3051607

rs_199591964

5 SubmittersRCV000357947 RCV001094921 RCV001706560 RCV002392909 RCV003912470

NM_001148.6(ANK2):c.8286A>G (p.Leu2762=)

SNV
Germline

Chr4:113356904

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3051744

rs_751252941

3 SubmittersRCV000388358 RCV000620721 RCV002057910

NM_001148.6(ANK2):c.10531C>T (p.Leu3511=)

SNV
Germline

Chr4:113359149

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
not specified
Long QT syndrome
Condition: not provided
ANK2-related disorder

Criteria Provided
Conflicting Classifications

CA3052082

rs_148462839

9 SubmittersRCV000620985 RCV001094931 RCV002282123 RCV000380245 RCV000857873 RCV003950224

NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser)

SNV
Germline

Chr7:150945409

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Short QT syndrome type 1
Long QT syndrome 2
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA039013

rs_778879572

7 SubmittersRCV000340691 RCV000617989 RCV000765942 RCV001706593 RCV001841270

NM_000238.4(KCNH2):c.2331C>T (p.Thr777=)

SNV
Germline

Chr7:150950235

Conflicting classifications of pathogenicity

Long QT syndrome
not specified
Condition: not provided
Long QT syndrome 2
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA031676

rs_41307292

8 SubmittersRCV000262824 RCV000419773 RCV000589926 RCV001095234 RCV001841274 RCV002446611

NM_000238.4(KCNH2):c.77-5C>G

SNV
Germline

Chr7:150974946

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Long QT syndrome 2
not specified
Cardiovascular phenotype
Cardiac arrhythmia
KCNH2-related disorder

Criteria Provided
Conflicting Classifications

CA040598

rs_72549419

11 SubmittersRCV000358645 RCV000712084 RCV001095172 RCV001700351 RCV002411254 RCV001841275 RCV004549818

NM_005751.5(AKAP9):c.5722A>G (p.Arg1908Gly)

SNV
Germline

Chr7:92061380

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336898

rs_780599681

2 SubmittersRCV000344004 RCV003168562

NM_005751.5(AKAP9):c.9229G>A (p.Ala3077Thr)

SNV
Germline

Chr7:92089400

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337694

rs_189151663

2 SubmittersRCV000259827 RCV004992185

NM_005751.5(AKAP9):c.10710A>G (p.Glu3570=)

SNV
Germline

Chr7:92098211

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4338002

rs_767245893

2 SubmittersRCV000620601 RCV002523602

NM_000238.4(KCNH2):c.2382C>T (p.Val794=)

SNV
Germline

Chr7:150950184

Conflicting classifications of pathogenicity

Long QT syndrome 2
not specified
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA031844

rs_777801910

4 SubmittersRCV000352909 RCV000603850 RCV001485642 RCV001841273

NM_000238.4(KCNH2):c.2145+9A>T

SNV
Germline

Chr7:150950912

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA031011

rs_371749379

4 SubmittersRCV000318045 RCV001095235 RCV001553585 RCV001712757

NM_005751.5(AKAP9):c.3932T>A (p.Met1311Lys)

SNV
Germline

Chr7:92022332

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336429

rs_776582090

2 SubmittersRCV002374599 RCV005090592

NM_005751.5(AKAP9):c.11549A>G (p.Tyr3850Cys)

SNV
Germline

Chr7:92108496

Conflicting classifications of pathogenicity

Cardiovascular phenotype
AKAP9-related disorder
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4338228

rs_751615449

3 SubmittersRCV004022059 RCV004745360 RCV005055932

NM_000238.4(KCNH2):c.675C>G (p.Leu225=)

SNV
Germline

Chr7:150958300

Conflicting classifications of pathogenicity

Long QT syndrome 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10628486

rs_760401552

2 SubmittersRCV000262502 RCV002365421

NM_005751.5(AKAP9):c.4164G>A (p.Ser1388=)

SNV
Germline

Chr7:92029910

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 11
Colon adenocarcinoma

Criteria Provided
Conflicting Classifications

CA4336500

rs_146831402

4 SubmittersRCV000619602 RCV001521431 RCV005863129 RCV005899269

NM_005751.5(AKAP9):c.4253G>A (p.Gly1418Asp)

SNV
Germline

Chr7:92031519

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4336529

rs_374280470

4 SubmittersRCV001861308 RCV002328877 RCV002481237

NM_005751.5(AKAP9):c.5496A>G (p.Gly1832=)

SNV
Germline

Chr7:92052853

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome 11
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA10629567

rs_886062474

3 SubmittersRCV002348112 RCV002480246 RCV002519509

NM_005751.5(AKAP9):c.6896A>G (p.Glu2299Gly)

SNV
Germline

Chr7:92077826

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 11
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337185

rs_147841245

4 SubmittersRCV000337725 RCV000506888 RCV002365424

NM_005751.5(AKAP9):c.11229G>T (p.Met3743Ile)

SNV
Germline

Chr7:92102725

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4338115

rs_143306820

2 SubmittersRCV000270370 RCV000619623

NM_174934.4(SCN4B):c.482C>G (p.Thr161Arg)

SNV
Germline

Chr11:118141318

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 10
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6300188

rs_750329453

4 SubmittersRCV001549670 RCV002494949 RCV003380546

NM_000218.3(KCNQ1):c.-38C>T

SNV
Germline

Chr11:2445061

Conflicting classifications of pathogenicity

Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Atrial fibrillation, familial, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10630688

rs_886048160

2 SubmittersRCV000280671 RCV000314033 RCV000335178 RCV000350171 RCV001612958

NM_000218.3(KCNQ1):c.1514+3G>A

SNV
Germline

Chr11:2662084

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA030306

rs_374767819

4 SubmittersRCV000359640 RCV001841255 RCV002265729 RCV002392838

NM_000218.3(KCNQ1):c.1514+9C>T

SNV
Germline

Chr11:2662090

Conflicting classifications of pathogenicity

Long QT syndrome
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

CA10630689

rs_770840921

2 SubmittersRCV000261461 RCV000274498 RCV000353824 RCV000389901 RCV001093979

NM_000218.3(KCNQ1):c.*717T>G

SNV
Germline

Chr11:2848720

Conflicting classifications of pathogenicity

Long QT syndrome 1
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3

Criteria Provided
Conflicting Classifications

CA040104

rs_189162344

1 SubmittersRCV000294571 RCV000330859 RCV000336506 RCV000385301

NM_000719.7(CACNA1C):c.5492C>T (p.Thr1831Met)

SNV
Germline

Chr12:2682597

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6389877

rs_186015395

3 SubmittersRCV000631690 RCV002348044 RCV003480589

NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val)

SNV
Germline

Chr11:128911703

Conflicting classifications of pathogenicity

Familial hyperaldosteronism type III
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6357870

rs_369703183

5 SubmittersRCV000357625 RCV001062268 RCV002328803 RCV002470842 RCV003133217

NM_000218.3(KCNQ1):c.*904T>C

SNV
Germline

Chr11:2848907

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

CA041331

rs_186055804

1 SubmittersRCV000297878 RCV000361985 RCV000402784 RCV000403186

NM_000719.7(CACNA1C):c.1520G>A (p.Arg507His)

SNV
Germline

Chr12:2566433

Conflicting classifications of pathogenicity

Long QT syndrome
Brugada syndrome 3
Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6388808

rs_768830617

5 SubmittersRCV000631549 RCV002466485 RCV005008284 RCV004601155 RCV004822033

NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg)

SNV
Germline

Chr12:2585473

Conflicting classifications of pathogenicity

Timothy syndrome
Long QT syndrome
Condition: not provided
Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA6388966

rs_545511851

7 SubmittersRCV000337286 RCV000808464 RCV000994771 RCV002494962

NM_000719.7(CACNA1C):c.2813T>C (p.Ile938Thr)

SNV
Germline

Chr12:2597249

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Timothy syndrome
arrhythmogenic disorders

Criteria Provided
Conflicting Classifications

CA6389058

rs_377165829

5 SubmittersRCV000486236 RCV000797310 RCV002436155 RCV005255487

NM_000218.3(KCNQ1):c.1794+12C>T

SNV
Germline

Chr11:2778049

Conflicting classifications of pathogenicity

Long QT syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA032842

rs_727505084

2 SubmittersRCV000278548 RCV000293701 RCV000338238 RCV000390755 RCV006462393

NM_000218.3(KCNQ1):c.*391G>A

SNV
Germline

Chr11:2848394

Conflicting classifications of pathogenicity

Short QT syndrome type 2
Long QT syndrome 1
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Conflicting Classifications

CA036954

rs_774059974

1 SubmittersRCV000326444 RCV000332475 RCV000383406 RCV000389143

NM_000218.3(KCNQ1):c.387-7C>T

SNV
Germline

Chr11:2527921

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Long QT syndrome
Long QT syndrome 1
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA036922

rs_201682200

7 SubmittersRCV000302203 RCV000305874 RCV000399547 RCV000394457 RCV001093927 RCV001718615 RCV001843044

NM_000218.3(KCNQ1):c.*837G>A

SNV
Germline

Chr11:2848840

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA040916

rs_139633955

2 SubmittersRCV000260634 RCV000285283 RCV000340166 RCV000379709 RCV001778895

NM_000218.3(KCNQ1):c.*1025G>C

SNV
Germline

Chr11:2849028

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

CA10638866

rs_181226788

1 SubmittersRCV000281297 RCV000285348 RCV000336315 RCV000390924

NM_000719.7(CACNA1C):c.2398A>C (p.Lys800Gln)

SNV
Germline

Chr12:2585434

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6388962

rs_779009338

2 SubmittersRCV000798349 RCV003278756

NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr)

SNV
Germline

Chr12:2677799

Conflicting classifications of pathogenicity

Timothy syndrome
Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389682

rs_773930851

5 SubmittersRCV000317439 RCV001034179 RCV001701945 RCV002338886

NM_003098.3(SNTA1):c.*79C>A

SNV
Germline

Chr20:33408428

Conflicting classifications of pathogenicity

Long QT syndrome 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10643772

rs_78892511

2 SubmittersRCV000310976 RCV001672591

NM_172201.2(KCNE2):c.-85G>A

SNV
Germline

Chr21:34364079

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 4
Long QT syndrome 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10644552

rs_41315511

2 SubmittersRCV000309143 RCV000402485 RCV001712070

NM_000219.6(KCNE1):c.*1338C>T

SNV
Germline

Chr21:34447907

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA10644570

rs_74508995

1 SubmittersRCV000272120 RCV000306273

NM_000219.6(KCNE1):c.*30C>G

SNV
Germline

Chr21:34449215

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10644597

rs_150963475

2 SubmittersRCV000315774 RCV000379652 RCV001613115

NM_000219.6(KCNE1):c.-377+13G>A

SNV
Germline

Chr21:34512014

Conflicting classifications of pathogenicity

Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2

Criteria Provided
Conflicting Classifications

CA10644598

rs_41315351

1 SubmittersRCV000291090 RCV000401874

NM_003098.3(SNTA1):c.1479C>T (p.Phe493=)

SNV
Germline

Chr20:33408546

Conflicting classifications of pathogenicity

Long QT syndrome 12
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9816935

rs_559827815

3 SubmittersRCV000362322 RCV001473186 RCV004992182

NM_000219.6(KCNE1):c.*553A>G

SNV
Germline

Chr21:34448692

Conflicting classifications of pathogenicity

Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2

Criteria Provided
Conflicting Classifications

CA10650389

rs_570907779

1 SubmittersRCV000343221 RCV000401308

NM_003098.3(SNTA1):c.1238-13G>C

SNV
Germline

Chr20:33408901

Conflicting classifications of pathogenicity

Long QT syndrome 12
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA10652475

rs_748801869

2 SubmittersRCV000380288 RCV002057732

NM_172201.2(KCNE2):c.153G>T (p.Leu51=)

SNV
Germline

Chr21:34370631

Conflicting classifications of pathogenicity

Long QT syndrome 6
Atrial fibrillation, familial, 4
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10013414

rs_143767851

3 SubmittersRCV000284906 RCV000407861 RCV002402067

NM_172201.2(KCNE2):c.*62G>A

SNV
Germline

Chr21:34370912

Conflicting classifications of pathogenicity

Atrial fibrillation, familial, 4
Long QT syndrome 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10653502

rs_72550218

2 SubmittersRCV000339806 RCV000354782 RCV001597105

NM_000219.6(KCNE1):c.*196C>G

SNV
Germline

Chr21:34449049

Conflicting classifications of pathogenicity

Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10653532

rs_76568182

2 SubmittersRCV000283759 RCV000392389 RCV001636950

NM_000219.6(KCNE1):c.54G>A (p.Gln18=)

SNV
Germline

Chr21:34449581

Conflicting classifications of pathogenicity

Long QT syndrome
Jervell and Lange-Nielsen syndrome 2
Cardiovascular phenotype
Long QT syndrome 5
not specified

Criteria Provided
Conflicting Classifications

CA10653536

rs_149875299

4 SubmittersRCV000304677 RCV000353483 RCV000620907 RCV001094687 RCV005055903

NM_001148.6(ANK2):c.10016C>T (p.Ala3339Val)

SNV
Germline

Chr4:113358634

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3052014

rs_150437645

4 SubmittersRCV000414342 RCV001850998 RCV002402104 RCV002481281

NM_000238.4(KCNH2):c.3152+1G>T

SNV
Germline

Chr7:150947327

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042568

rs_1057518151

2 SubmittersRCV000414266 RCV001378550

NM_000238.4(KCNH2):c.1664G>A (p.Cys555Tyr)

SNV
Germline

Chr7:150951729

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA16042572

rs_1057517866

2 SubmittersRCV000412811 RCV002523917

NM_000238.4(KCNH2):c.2398+1G>T

SNV
Germline

Chr7:150950167

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome
Long QT syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16042692

rs_794728391

3 SubmittersRCV000413790 RCV000473168 RCV003322603

NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter)

SNV
Germline

Chr7:150958430

Pathogenic

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16042695

rs_1057517742

3 SubmittersRCV000413351 RCV000686182 RCV002348126

NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His)

SNV
Germline

Chr12:2566466

Pathogenic/Likely pathogenic

Condition: not provided
Hypertrophic cardiomyopathy 1
Long QT syndrome
Long QT syndrome 8
Cardiac arrhythmia
Timothy syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16042880

rs_1057517711

9 SubmittersRCV000412828 RCV000584800 RCV000631664 RCV001808785 RCV002230228 RCV002288982 RCV002402099

NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile)

SNV
Germline

Chr21:34449462

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Primary dilated cardiomyopathy
not specified
SUDDEN INFANT DEATH SYNDROME
Cardiovascular phenotype
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA16043161

rs_747321794

7 SubmittersRCV000414735 RCV000539512 RCV000852543 RCV001002520 RCV001788209 RCV003372698 RCV004777659

NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter)

SNV
Germline

Chr11:2445213

Likely pathogenic

Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2

Criteria Provided
Single Submitter

CA379116229

rs_1554958045

2 SubmittersRCV000656433 RCV005049544

NM_001148.6(ANK2):c.6325G>A (p.Glu2109Lys)

SNV
Germline

Chr4:113354943

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051397

rs_751026615

4 SubmittersRCV000428992 RCV001316082 RCV004992201

NM_000335.5(SCN5A):c.4005C>T (p.Asn1335=)

SNV
Germline

Chr3:38560384

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA062720

rs_746892102

7 SubmittersRCV001146615 RCV001146616 RCV001146617 RCV001146618 RCV001146620 RCV001146619 RCV001703524 RCV001841302 RCV004984867

NM_000335.5(SCN5A):c.4467G>A (p.Glu1489=)

SNV
Germline

Chr3:38555728

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA063244

rs_375026424

6 SubmittersRCV000442968 RCV001146368 RCV001146364 RCV001146365 RCV001146366 RCV001146367 RCV001146369 RCV001841298 RCV002328924 RCV005208829

NM_001148.6(ANK2):c.3255G>A (p.Ala1085=)

SNV
Germline

Chr4:113333084

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3050815

rs_56173868

4 SubmittersRCV000444684 RCV000473586 RCV000620641 RCV001705545

NM_000335.5(SCN5A):c.4434+5G>A

SNV
Germline

Chr3:38556436

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 3
Brugada syndrome 1
Cardiovascular phenotype
Atrial fibrillation
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA16604562

rs_1057520531

9 SubmittersRCV000429534 RCV000477868 RCV001256847 RCV002328929 RCV004772906 RCV006550006

NM_001148.6(ANK2):c.8140G>A (p.Val2714Ile)

SNV
Germline

Chr4:113356758

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
See cases
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051720

rs_753223319

5 SubmittersRCV000432217 RCV001370715 RCV001542444 RCV002418322 RCV002506071

NM_001148.6(ANK2):c.8843C>G (p.Ala2948Gly)

SNV
Germline

Chr4:113357461

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
not specified

Criteria Provided
Conflicting Classifications

CA3051837

rs_138438183

7 SubmittersRCV000423348 RCV000463576 RCV000620461 RCV000764527 RCV005238987

NM_000335.5(SCN5A):c.1575C>T (p.Ser525=)

SNV
Germline

Chr3:38604027

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA058225

rs_370684004

8 SubmittersRCV000443526 RCV001150027 RCV001144114 RCV001144113 RCV001144115 RCV001144116 RCV001144117 RCV002402131 RCV003591730 RCV003539880

NM_000335.5(SCN5A):c.495C>T (p.Thr165=)

SNV
Germline

Chr3:38620959

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064009

rs_62242804

7 SubmittersRCV000427480 RCV000845444 RCV001144573 RCV001150673 RCV001144572 RCV001144574 RCV001150672 RCV001150674 RCV001841290 RCV002338991

NM_001148.6(ANK2):c.741C>T (p.Asn247=)

SNV
Germline

Chr4:113240532

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3050103

rs_190102899

4 SubmittersRCV000431099 RCV000534064 RCV001146862 RCV002379290

NM_001148.6(ANK2):c.1673T>C (p.Leu558Ser)

SNV
Germline

Chr4:113274639

Conflicting classifications of pathogenicity

not specified
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3050334

rs_139199018

6 SubmittersRCV000421952 RCV000477764 RCV000766417 RCV001065919 RCV002402157

NM_001148.6(ANK2):c.2900+15A>C

SNV
Germline

Chr4:113318635

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3050702

rs_369903397

3 SubmittersRCV001148160 RCV001721306 RCV002521809

NM_001148.6(ANK2):c.3507T>C (p.Gly1169=)

SNV
Germline

Chr4:113335973

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3050856

rs_200262333

5 SubmittersRCV000432675 RCV000631733 RCV001145402 RCV002450969 RCV005641612

NM_001148.6(ANK2):c.4371+6G>A

SNV
Germline

Chr4:113346028

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051052

rs_778112618

4 SubmittersRCV000441950 RCV001309591 RCV005256608

NM_001148.6(ANK2):c.7396C>T (p.Arg2466Cys)

SNV
Germline

Chr4:113356014

Conflicting classifications of pathogenicity

Condition: not provided
Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051582

rs_562115547

5 SubmittersRCV000443537 RCV001196023 RCV001203990 RCV002379398

NM_001148.6(ANK2):c.10976G>T (p.Arg3659Leu)

SNV
Germline

Chr4:113365126

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Cardiovascular phenotype
ANK2-related disorder
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3052173

rs_556640912

6 SubmittersRCV000443671 RCV001078512 RCV001290572 RCV002450961 RCV003418111 RCV005398510

NM_001148.6(ANK2):c.8463C>A (p.Asp2821Glu)

SNV
Germline

Chr4:113357081

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051777

rs_780668435

4 SubmittersRCV000422931 RCV000554370 RCV002446737

NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly)

SNV
Germline

Chr4:113357904

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
ANK2-related disorder

Criteria Provided
Conflicting Classifications

CA3051899

rs_144158934

7 SubmittersRCV000426293 RCV000473728 RCV000620219 RCV001143937 RCV003922731

NM_001148.6(ANK2):c.11610+5G>A

SNV
Germline

Chr4:113369810

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16604682

rs_1057524171

3 SubmittersRCV000430025 RCV001322926 RCV005589836

NM_001148.6(ANK2):c.792+15A>G

SNV
Germline

Chr4:113240598

Conflicting classifications of pathogenicity

not specified
Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3050109

rs_375914552

4 SubmittersRCV000441843 RCV001146863 RCV002058879

NM_001148.6(ANK2):c.3379+4C>A

SNV
Germline

Chr4:113333212

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3050828

rs_752152002

3 SubmittersRCV000422466 RCV002450960 RCV002524747

NM_001148.6(ANK2):c.4371+5C>T

SNV
Germline

Chr4:113346027

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16605028

rs_891690526

3 SubmittersRCV000432275 RCV000823603 RCV004022284

NM_000238.4(KCNH2):c.3027C>G (p.Tyr1009Ter)

SNV
Germline

Chr7:150947453

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16605072

rs_1057520558

2 SubmittersRCV000423718 RCV000804954

NM_000238.4(KCNH2):c.1686C>G (p.His562Gln)

SNV
Germline

Chr7:150951707

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA16605170

rs_1057520477

2 SubmittersRCV000434772 RCV006462655

NM_000238.4(KCNH2):c.1635C>T (p.Tyr545=)

SNV
Germline

Chr7:150951758

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Long QT syndrome 2
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA029021

rs_200692436

7 SubmittersRCV000590102 RCV001087028 RCV001159680 RCV001841317 RCV002402150

NM_000238.4(KCNH2):c.308-2A>G

SNV
Germline

Chr7:150959738

Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16605176

rs_1057520598

2 SubmittersRCV000427208 RCV000460573

NM_000238.4(KCNH2):c.2965+15G>A

SNV
Germline

Chr7:150947591

Conflicting classifications of pathogenicity

not specified
Long QT syndrome 2
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA16605266

rs_750330550

3 SubmittersRCV000431632 RCV001159568 RCV002058900

NM_000238.4(KCNH2):c.1973A>G (p.Asn658Ser)

SNV
Germline

Chr7:150951093

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA16605272

rs_1057523338

2 SubmittersRCV000426599 RCV000466780

NM_000238.4(KCNH2):c.1128+1810C>T

SNV
Germline

Chr7:150955481

Conflicting classifications of pathogenicity

Condition: not provided
Short QT syndrome type 1
Long QT syndrome 2
Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16605278

rs_972201049

5 SubmittersRCV000431050 RCV000763172 RCV001048076 RCV001841309 RCV002446661

NM_005751.5(AKAP9):c.5505A>G (p.Ile1835Met)

SNV
Germline

Chr7:92052862

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16605299

rs_1057521238

3 SubmittersRCV000437144 RCV001861516 RCV002348182

NM_000238.4(KCNH2):c.2730G>A (p.Pro910=)

SNV
Germline

Chr7:150947841

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 2
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA16605724

rs_916754925

8 SubmittersRCV000460101 RCV001160954 RCV001705573 RCV001841287 RCV002436247 RCV004999380

NM_000238.4(KCNH2):c.2398+4T>C

SNV
Germline

Chr7:150950164

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA16605727

rs_1057520559

3 SubmittersRCV000434005 RCV001851044 RCV001841310

NM_000238.4(KCNH2):c.736G>T (p.Gly246Cys)

SNV
Germline

Chr7:150958239

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16605738

rs_1057520689

3 SubmittersRCV000433548 RCV001851049 RCV002379315

NM_000218.3(KCNQ1):c.386+14C>T

SNV
Germline

Chr11:2445498

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Long QT syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA035312

rs_370023636

5 SubmittersRCV000422020 RCV000726997 RCV001102598 RCV001102599 RCV001107835 RCV001107836 RCV002061409

NM_000218.3(KCNQ1):c.1806G>A (p.Leu602=)

SNV
Germline

Chr11:2847778

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16606230

rs_991680454

3 SubmittersRCV002411325 RCV003532101 RCV004999391

NM_000218.3(KCNQ1):c.797T>G (p.Leu266Arg)

SNV
Germline

Chr11:2572862

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16606299

rs_199473460

3 SubmittersRCV000442048 RCV001205787 RCV002418339

NM_000218.3(KCNQ1):c.843C>A (p.Tyr281Ter)

SNV
Germline

Chr11:2572908

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA16606921

rs_1057520623

4 SubmittersRCV000433921 RCV004556784 RCV005402914

NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr)

SNV
Germline

Chr12:2566468

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Ventricular tachycardia
Long QT syndrome 8
Brugada syndrome 3
Timothy syndrome
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA6388813

rs_371702432

9 SubmittersRCV000424636 RCV000619866 RCV000813437 RCV000852443 RCV002272236 RCV002481342

NM_000719.7(CACNA1C):c.2461-3T>C

SNV
Germline

Chr12:2585832

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16607240

rs_918755208

3 SubmittersRCV000432278 RCV001865347 RCV004992204

NM_017636.4(TRPM4):c.2561A>G (p.Gln854Arg)

SNV
Germline

Chr19:49196790

Conflicting classifications of pathogenicity

Progressive familial heart block type IB
Condition: not provided
Cardiovascular phenotype
Long QT syndrome
not specified
TRPM4-related disorder

Criteria Provided
Conflicting Classifications

CA9569575

rs_172155862

7 SubmittersRCV000538303 RCV001703669 RCV002429383 RCV003318376 RCV003488591 RCV004533001

NM_003098.3(SNTA1):c.1157C>T (p.Pro386Leu)

SNV
Germline

Chr20:33410215

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9817028

rs_200865199

3 SubmittersRCV000424013 RCV000686555 RCV000617690

NM_000219.6(KCNE1):c.113G>A (p.Ser38Asn)

SNV
Germline

Chr21:34449522

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA16608493

rs_1057522990

3 SubmittersRCV000427530 RCV004022427 RCV004777663

NM_172201.2(KCNE2):c.317C>T (p.Ser106Leu)

SNV
Germline

Chr21:34370795

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome 6

Criteria Provided
Conflicting Classifications

CA10013440

rs_183427173

3 SubmittersRCV000439315 RCV000620110 RCV001088045

NM_003098.3(SNTA1):c.210G>C (p.Pro70=)

SNV
Germline

Chr20:33443411

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 12
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA9817268

rs_751651742

6 SubmittersRCV000617628 RCV000862729 RCV001136817 RCV001712202 RCV005438000

NM_000238.4(KCNH2):c.2592+3G>A

SNV
Germline

Chr7:150948853

Conflicting classifications of pathogenicity

not specified
Short QT syndrome type 1
Long QT syndrome 2
Cardiac arrhythmia
Long QT syndrome
Short QT syndrome type 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16609735

rs_906562788

6 SubmittersRCV000456102 RCV000768000 RCV001841341 RCV001856798 RCV002467801 RCV005652376

NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln)

SNV
Germline

Chr12:2686202

Conflicting classifications of pathogenicity

Long QT syndrome
not specified
Primary dilated cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Brugada syndrome 3
Long QT syndrome 8
Timothy syndrome

Criteria Provided
Conflicting Classifications

CA6389955

rs_758166168

6 SubmittersRCV000473271 RCV000455282 RCV000852445 RCV001550202 RCV002348254 RCV002481357

NM_001267550.2(TTN):c.42851G>A (p.Arg14284His)

SNV
Germline

Chr2:178633508

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
6 conditions
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
Cardiovascular phenotype
Condition: not provided
Congenital long QT syndrome

Criteria Provided
Conflicting Classifications

CA1996006

rs_368572799

7 SubmittersRCV000459308 RCV000714640 RCV000765573 RCV000714639 RCV000852527 RCV002402232 RCV003139609 RCV004732886

NM_000335.5(SCN5A):c.4873C>T (p.Arg1625Cys)

SNV
Germline

Chr3:38551496

Conflicting classifications of pathogenicity

Cardiac arrhythmia
8 conditions
Condition: not provided
Long QT syndrome 3
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16611263

rs_918933961

8 SubmittersRCV001841354 RCV002496751 RCV003221986 RCV005861107 RCV006342283

NM_001148.6(ANK2):c.1905T>C (p.Ile635=)

SNV
Germline

Chr4:113282698

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA16611382

rs_1060504154

2 SubmittersRCV001145001 RCV001432730

NM_001148.6(ANK2):c.5570T>A (p.Val1857Glu)

SNV
Germline

Chr4:113354188

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
ANK2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051255

rs_141212932

5 SubmittersRCV000472581 RCV001149832 RCV002348298 RCV003418164 RCV005416355

NM_001148.6(ANK2):c.8097G>A (p.Met2699Ile)

SNV
Germline

Chr4:113356715

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051711

rs_148904454

4 SubmittersRCV000469441 RCV002418365 RCV002496753 RCV004777670

NM_001148.6(ANK2):c.4287A>G (p.Ser1429=)

SNV
Germline

Chr4:113345938

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051040

rs_72556369

8 SubmittersRCV000470754 RCV001147337 RCV001700380 RCV001672785 RCV002329109

NM_001148.6(ANK2):c.6505G>A (p.Val2169Ile)

SNV
Germline

Chr4:113355123

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051421

rs_149292242

7 SubmittersRCV000462452 RCV000998275 RCV001147450 RCV003168768

NM_001148.6(ANK2):c.8651A>G (p.Glu2884Gly)

SNV
Germline

Chr4:113357269

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16611410

rs_1060501164

2 SubmittersRCV000477171 RCV002446794

NM_001148.6(ANK2):c.8918T>G (p.Val2973Gly)

SNV
Germline

Chr4:113357536

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051849

rs_142302291

4 SubmittersRCV000471954 RCV000498983 RCV002374762 RCV002481404

NM_001148.6(ANK2):c.9055A>G (p.Met3019Val)

SNV
Germline

Chr4:113357673

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051864

rs_370499072

4 SubmittersRCV000472799 RCV002374761 RCV002506110 RCV004701494

NM_001148.6(ANK2):c.9424A>C (p.Thr3142Pro)

SNV
Germline

Chr4:113358042

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051914

rs_374350634

4 SubmittersRCV000466984 RCV001539072 RCV002374760 RCV002480371

NM_033337.3(CAV3):c.117G>C (p.Val39=)

SNV
Germline

Chr3:8745528

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
CAV3-related disorder

Criteria Provided
Conflicting Classifications

CA2236323

rs_753959620

4 SubmittersRCV000728682 RCV001087907 RCV003343850 RCV003902697

NM_033337.3(CAV3):c.451G>A (p.Val151Ile)

SNV
Germline

Chr3:8745862

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA2236372

rs_780870487

4 SubmittersRCV000470414 RCV001545712 RCV002329057 RCV003323547

NM_001148.6(ANK2):c.1288-4G>A

SNV
Germline

Chr4:113258309

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3050256

rs_780788513

2 SubmittersRCV000456975 RCV002383869

NM_001148.6(ANK2):c.10573G>A (p.Glu3525Lys)

SNV
Germline

Chr4:113359191

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
ANK2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3052089

rs_781552524

5 SubmittersRCV000464069 RCV002411437 RCV002481405 RCV003401462 RCV004800415

NM_001148.6(ANK2):c.231G>A (p.Val77=)

SNV
Germline

Chr4:113196412

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
not specified
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
ANK2-related disorder

Criteria Provided
Conflicting Classifications

CA3049971

rs_149699185

11 SubmittersRCV000461787 RCV000618193 RCV001174566 RCV001144901 RCV001702785 RCV003942527

NM_001148.6(ANK2):c.2836C>T (p.Arg946Cys)

SNV
Germline

Chr4:113318556

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3050683

rs_200524407

5 SubmittersRCV000472336 RCV002436404 RCV002489021 RCV003221987

NM_001148.6(ANK2):c.7142C>A (p.Ala2381Asp)

SNV
Germline

Chr4:113355760

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051541

rs_764841248

4 SubmittersRCV000459302 RCV000521579 RCV000621967 RCV002481403

NM_001148.6(ANK2):c.8552C>T (p.Pro2851Leu)

SNV
Germline

Chr4:113357170

Conflicting classifications of pathogenicity

Long QT syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051787

rs_368569512

3 SubmittersRCV000461075 RCV000612463 RCV002411439

NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)

SNV
Germline

Chr6:7579527

Pathogenic/Likely pathogenic

Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Condition: not provided
Long QT syndrome 1
Cardiomyopathy
Cardiovascular phenotype
DSP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16612031

rs_746877365

10 SubmittersRCV000475216 RCV000521134 RCV000589386 RCV001186299 RCV002323682 RCV004529584

NM_000238.4(KCNH2):c.2312A>G (p.His771Arg)

SNV
Germline

Chr7:150950254

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA16612046

rs_1060500659

3 SubmittersRCV000469290 RCV002446782 RCV004701493

NM_000238.4(KCNH2):c.1341C>T (p.Tyr447=)

SNV
Germline

Chr7:150952641

Conflicting classifications of pathogenicity

Long QT syndrome
Short QT syndrome type 1
Long QT syndrome 2
Long QT syndrome 2
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA027774

rs_367570298

6 SubmittersRCV000464544 RCV000768001 RCV001161090 RCV001841380 RCV002383860

NM_000238.4(KCNH2):c.2930G>T (p.Cys977Phe)

SNV
Germline

Chr7:150947641

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA035467

rs_767252448

3 SubmittersRCV000477290 RCV006550083

NM_000238.4(KCNH2):c.1189C>T (p.Arg397Cys)

SNV
Germline

Chr7:150952793

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia
Brugada syndrome 1

Criteria Provided
Conflicting Classifications

CA16612122

rs_1060500663

5 SubmittersRCV000456992 RCV000619671 RCV001841347 RCV003328583

NM_000238.4(KCNH2):c.237C>G (p.Ala79=)

SNV
Germline

Chr7:150974781

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 2
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16612128

rs_1060503994

5 SubmittersRCV000461252 RCV001159791 RCV001841379 RCV004992250

NM_005751.5(AKAP9):c.6022G>A (p.Val2008Ile)

SNV
Germline

Chr7:92065275

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16612169

rs_951438275

2 SubmittersRCV000468019 RCV005338186

NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys)

SNV
Germline

Chr7:92065299

Conflicting classifications of pathogenicity

Condition: not provided
Cardiomyopathy
Long QT syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336991

rs_376950905

5 SubmittersRCV000508496 RCV000853016 RCV001083739 RCV001778972 RCV002356758

NM_000238.4(KCNH2):c.3112G>T (p.Val1038Leu)

SNV
Germline

Chr7:150947368

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA037127

rs_199473544

4 SubmittersRCV000474982 RCV001841349 RCV002323687

NM_005751.5(AKAP9):c.5251C>T (p.Arg1751Cys)

SNV
Germline

Chr7:92045096

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4336758

rs_144269839

4 SubmittersRCV000456250 RCV000786276 RCV002339191 RCV002475892

NM_005751.5(AKAP9):c.6905C>T (p.Thr2302Met)

SNV
Germline

Chr7:92077835

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA4337190

rs_368444006

3 SubmittersRCV000476416 RCV000620675 RCV001328360

NM_005751.5(AKAP9):c.7166A>G (p.Asp2389Gly)

SNV
Germline

Chr7:92079299

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA4337246

rs_140782750

4 SubmittersRCV000463629 RCV000618311 RCV001000823 RCV005899613

NM_000238.4(KCNH2):c.930A>G (p.Pro310=)

SNV
Germline

Chr7:150957489

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 2
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA040976

rs_745496986

7 SubmittersRCV000474164 RCV001162646 RCV001653835 RCV001841378 RCV003343847

NM_000238.4(KCNH2):c.355G>C (p.Asp119His)

SNV
Germline

Chr7:150959689

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Short QT syndrome type 1
Long QT syndrome 2
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA039187

rs_376308069

5 SubmittersRCV000467908 RCV001591065 RCV002339124 RCV003224285 RCV006550082

NM_005751.5(AKAP9):c.9881G>A (p.Arg3294Gln)

SNV
Germline

Chr7:92096840

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337864

rs_752685614

4 SubmittersRCV000459803 RCV000786277 RCV003155193 RCV004022894

NM_005751.5(AKAP9):c.41A>C (p.Lys14Thr)

SNV
Germline

Chr7:91941140

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4335694

rs_138107415

4 SubmittersRCV000463369 RCV000622237 RCV002481477 RCV003437208

NM_005751.5(AKAP9):c.456C>A (p.Asp152Glu)

SNV
Germline

Chr7:91992935

Conflicting classifications of pathogenicity

Long QT syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4335819

rs_138567837

3 SubmittersRCV000457679 RCV002469158 RCV002339190

NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu)

SNV
Germline

Chr7:92045129

Conflicting classifications of pathogenicity

Long QT syndrome
not specified
Cardiovascular phenotype
AKAP9-related disorder

Criteria Provided
Conflicting Classifications

CA4336763

rs_568626378

5 SubmittersRCV000472578 RCV000507184 RCV002350044 RCV003932770

NM_000218.3(KCNQ1):c.818T>C (p.Leu273Pro)

SNV
Germline

Chr11:2572883

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA16613286

rs_199472727

1 SubmittersRCV000467468

NM_000218.3(KCNQ1):c.721G>T (p.Val241Phe)

SNV
Germline

Chr11:2572050

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA16613302

rs_199956744

1 SubmittersRCV000471238

NM_000218.3(KCNQ1):c.733G>T (p.Gly245Ter)

SNV
Germline

Chr11:2572062

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA16613304

rs_1060500628

1 SubmittersRCV000459171

NM_000218.3(KCNQ1):c.648C>A (p.Gly216=)

SNV
Germline

Chr11:2571368

Conflicting classifications of pathogenicity

not specified
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Long QT syndrome 1
Short QT syndrome type 2
Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA039362

rs_146350010

7 SubmittersRCV000780366 RCV001104622 RCV001104624 RCV001104621 RCV001104623 RCV001438937 RCV001841365 RCV002367581

NM_000218.3(KCNQ1):c.847G>C (p.Ala283Pro)

SNV
Germline

Chr11:2572912

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA16613511

rs_1060500627

1 SubmittersRCV000467059

NM_000218.3(KCNQ1):c.1025T>A (p.Leu342His)

SNV
Germline

Chr11:2583538

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16613516

rs_794728522

2 SubmittersRCV000470879 RCV002379420

NM_000218.3(KCNQ1):c.1046C>A (p.Ser349Ter)

SNV
Germline

Chr11:2585225

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA16613520

rs_199472765

1 SubmittersRCV000472268

NM_000218.3(KCNQ1):c.899C>A (p.Ala300Glu)

SNV
Germline

Chr11:2572964

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Atrial fibrillation, familial, 3
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16613563

rs_1001293702

6 SubmittersRCV000470657 RCV001558264 RCV003224284 RCV004701492 RCV005348123

NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter)

SNV
Germline

Chr11:2587616

Pathogenic

Long QT syndrome
Condition: not provided
Jervell and Lange-Nielsen syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16613564

rs_1060500629

3 SubmittersRCV000464076 RCV000786153 RCV004689741

NM_000719.7(CACNA1C):c.5411T>C (p.Val1804Ala)

SNV
Germline

Chr12:2679763

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Timothy syndrome
Long QT syndrome 8
Brugada syndrome 3
not specified

Criteria Provided
Conflicting Classifications

CA6389776

rs_756492434

4 SubmittersRCV000456924 RCV002349978 RCV002481471 RCV005404590

NM_000719.7(CACNA1C):c.6034C>T (p.Arg2012Trp)

SNV
Germline

Chr12:2688696

Conflicting classifications of pathogenicity

Long QT syndrome
not specified
Timothy syndrome
Long QT syndrome 8
Brugada syndrome 3
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6390060

rs_553500083

4 SubmittersRCV000477536 RCV001328352 RCV002489083 RCV004022885

NM_000719.7(CACNA1C):c.927A>G (p.Ala309=)

SNV
Germline

Chr12:2493200

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6388576

rs_369079645

4 SubmittersRCV000729434 RCV001483269 RCV002374872

NM_000719.7(CACNA1C):c.5957G>A (p.Ser1986Asn)

SNV
Germline

Chr12:2688619

Conflicting classifications of pathogenicity

Long QT syndrome
Timothy syndrome
Long QT syndrome 8
Brugada syndrome 3
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6390037

rs_755280013

3 SubmittersRCV000456475 RCV005407126 RCV004992243

NM_000719.7(CACNA1C):c.6064G>C (p.Ala2022Pro)

SNV
Germline

Chr12:2688726

Conflicting classifications of pathogenicity

Long QT syndrome
Brugada syndrome 3
Long QT syndrome 8
Timothy syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6390071

rs_758974396

3 SubmittersRCV000461912 RCV002506132 RCV003168856

NM_005184.4(CALM3):c.281A>C (p.Asp94Ala)

SNV
Germline

Chr19:46608584

Pathogenic

Long QT syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

CA16616071

rs_1060502608

2 SubmittersRCV000475293 RCV000786284

NM_005184.4(CALM3):c.421+4A>G

SNV
Germline

Chr19:46608985

Conflicting classifications of pathogenicity

Long QT syndrome 1
Long QT syndrome 16
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9529832

rs_373529765

3 SubmittersRCV002230091 RCV003227756 RCV003380576

NM_005184.4(CALM3):c.286G>C (p.Asp96His)

SNV
Germline

Chr19:46608846

Pathogenic

Long QT syndrome 1
Long QT syndrome 16

Criteria Provided
Multiple Submitters
No Conflicts

CA16616292

rs_1060502607

2 SubmittersRCV002230393 RCV004594063

NM_003098.3(SNTA1):c.1007G>A (p.Arg336Gln)

SNV
Germline

Chr20:33412329

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9817081

rs_149126874

2 SubmittersRCV000476847 RCV004022899

NM_003098.3(SNTA1):c.820C>T (p.Arg274Trp)

SNV
Germline

Chr20:33412664

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9817131

rs_201763667

4 SubmittersRCV000469122 RCV000786411 RCV002429552

NM_000219.6(KCNE1):c.221C>G (p.Ser74Trp)

SNV
Germline

Chr21:34449414

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA16616500

rs_74315446

3 SubmittersRCV000468164 RCV002418396 RCV004777675

NM_005751.5(AKAP9):c.4189C>G (p.Gln1397Glu)

SNV
Germline

Chr7:92029935

Conflicting classifications of pathogenicity

Long QT syndrome 11
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336503

rs_749340561

3 SubmittersRCV000477859 RCV000621830 RCV001851129

NM_001148.6(ANK2):c.10945A>G (p.Met3649Val)

SNV
Germline

Chr4:113365095

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3052169

rs_145856327

3 SubmittersRCV000480858 RCV002525972 RCV003338611

NM_000238.4(KCNH2):c.2468G>A (p.Arg823Gln)

SNV
Germline

Chr7:150948980

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA16618403

rs_1064793147

3 SubmittersRCV000481087 RCV001348803 RCV001841393

NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter)

SNV
Germline

Chr7:150950983

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16618406

rs_1064794793

3 SubmittersRCV000481174 RCV000631681 RCV003168953

NM_000238.4(KCNH2):c.472+1G>A

SNV
Germline

Chr7:150959571

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16618414

rs_794728477

2 SubmittersRCV000483249 RCV001379769

NM_000238.4(KCNH2):c.164C>A (p.Ser55Ter)

SNV
Germline

Chr7:150974854

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16618417

rs_199472844

2 SubmittersRCV000484322 RCV001239959

NM_174934.4(SCN4B):c.542T>C (p.Leu181Pro)

SNV
Germline

Chr11:118141258

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome 10

Criteria Provided
Conflicting Classifications

CA6300170

rs_61065977

3 SubmittersRCV000482623 RCV000618216 RCV001451522

NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly)

SNV
Germline

Chr11:2527978

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA16619306

rs_914460959

6 SubmittersRCV000482770 RCV001039538 RCV001248899 RCV002329140 RCV006550209

NM_000719.7(CACNA1C):c.460G>A (p.Ala154Thr)

SNV
Germline

Chr12:2120413

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16619497

rs_1064796583

3 SubmittersRCV000483676 RCV001047449 RCV002318583

NM_000719.7(CACNA1C):c.959C>T (p.Thr320Met)

SNV
Germline

Chr12:2493232

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA6388585

rs_377737331

4 SubmittersRCV000482096 RCV000814196 RCV002374887 RCV002481502

NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser)

SNV
Germline

Chr12:2585386

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Long QT syndrome 8
Timothy syndrome
Brugada syndrome 3
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6388954

rs_749935207

7 SubmittersRCV000486286 RCV000631685 RCV002481513 RCV002446927

NM_000719.7(CACNA1C):c.3200C>T (p.Ala1067Val)

SNV
Germline

Chr12:2606654

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389183

rs_750998195

3 SubmittersRCV000484291 RCV001078815 RCV002323834

NM_000719.7(CACNA1C):c.3258C>T (p.Ile1086=)

SNV
Germline

Chr12:2607032

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA6389208

rs_757290350

3 SubmittersRCV000485891 RCV002323843 RCV002525962

NM_005184.4(CALM3):c.396T>A (p.Asp132Glu)

SNV
Germline

Chr19:46608956

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

CA16620863

rs_1064796271

2 SubmittersRCV000484148 RCV006463016

NM_000219.6(KCNE1):c.217C>T (p.His73Tyr)

SNV
Germline

Chr21:34449418

Likely pathogenic

Condition: not provided
Long QT syndrome 5

Criteria Provided
Single Submitter

CA16620987

rs_1064793159

2 SubmittersRCV000485473 RCV004777682

NM_000218.3(KCNQ1):c.1076A>C (p.Gln359Pro)

SNV
Germline

Chr11:2585255

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA379133762

rs_1085307965

2 SubmittersRCV000489458 RCV001856912

NM_006888.6(CALM1):c.424T>C (p.Phe142Leu)

SNV
Germline

Chr14:90404691

Pathogenic

Condition: not provided
Long QT syndrome 14
Catecholaminergic polymorphic ventricular tachycardia 4
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA390690445

rs_1085307479

3 SubmittersRCV000489543 RCV001856891 RCV005791873

NM_003098.3(SNTA1):c.430T>G (p.Ser144Ala)

SNV
Germline

Chr20:33438907

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA9817229

rs_142978180

4 SubmittersRCV000489834 RCV000620309 RCV001346075

NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg)

SNV
Germline

Chr7:150951114

Likely pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369857777

rs_1554425569

1 SubmittersRCV000497898

NM_001148.6(ANK2):c.7249G>C (p.Asp2417His)

SNV
Germline

Chr4:113355867

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3051561

rs_372545180

3 SubmittersRCV000493998 RCV002376905 RCV002524032

NM_001148.6(ANK2):c.8057T>C (p.Val2686Ala)

SNV
Germline

Chr4:113356675

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3051704

rs_56095304

3 SubmittersRCV000492796 RCV002413357 RCV002527094

NM_001148.6(ANK2):c.9841C>G (p.Gln3281Glu)

SNV
Germline

Chr4:113358459

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
not specified

Criteria Provided
Conflicting Classifications

CA3051990

rs_372534074

6 SubmittersRCV000492803 RCV001317182 RCV002383945 RCV002496895 RCV005434968

NM_000218.3(KCNQ1):c.374A>G (p.Tyr125Cys)

SNV
Germline

Chr11:2445472

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA379117805

rs_1131691513

2 SubmittersRCV000494625 RCV006463089

NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly)

SNV
Germline

Chr11:2445103

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA379115683

rs_199473442

1 SubmittersRCV000590986

NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys)

SNV
Germline

Chr11:128911712

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Cardiovascular phenotype
Long QT syndrome 13
Familial hyperaldosteronism type III

Criteria Provided
Conflicting Classifications

CA6357874

rs_148355179

5 SubmittersRCV000498346 RCV000692441 RCV001824811 RCV002329183 RCV002489216

NM_000719.7(CACNA1C):c.1509-12T>G

SNV
Germline

Chr12:2566410

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA6388805

rs_200412525

2 SubmittersRCV000498274 RCV002060088

NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr)

SNV
Germline

Chr12:2688681

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6390052

rs_750411964

3 SubmittersRCV000506792 RCV001206926 RCV003456406

NM_000238.4(KCNH2):c.1557+1G>C

SNV
Germline

Chr7:150952424

Pathogenic/Likely pathogenic

not specified
Long QT syndrome 2
Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA369859377

rs_886039043

5 SubmittersRCV000506480 RCV002470890 RCV003532150 RCV003343878 RCV005409661

NM_000218.3(KCNQ1):c.1598G>A (p.Arg533Gln)

SNV
Germline

Chr11:2775967

Conflicting classifications of pathogenicity

Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA031441

rs_574321120

9 SubmittersRCV000513565 RCV001841404 RCV002404324 RCV003318379 RCV005431720

NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu)

SNV
Unknown

Chr3:38551076

Pathogenic

Long QT syndrome 3

Criteria Provided
Single Submitter

CA352141606

rs_199473310

1 SubmittersRCV000515650

NM_000238.4(KCNH2):c.3202C>T (p.Gln1068Ter)

SNV
Unknown

Chr7:150947005

Pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369852264

rs_1554423863

1 SubmittersRCV000515684

NM_001743.6(CALM2):c.400G>A (p.Asp134Asn)

SNV
Germline

Chr2:47161744

Likely pathogenic

Long QT syndrome 15
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA346719040

rs_398124650

2 SubmittersRCV000523452 RCV000532708

NM_000238.4(KCNH2):c.2681G>A (p.Arg894His)

SNV
Germline

Chr7:150948455

Conflicting classifications of pathogenicity

Long QT syndrome 2
Cardiac arrhythmia
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA034058

rs_199473668

5 SubmittersRCV000520688 RCV001841406 RCV002431480 RCV002060266

NM_000238.4(KCNH2):c.2053C>T (p.Arg685Cys)

SNV
Germline

Chr7:150951013

Conflicting classifications of pathogenicity

Long QT syndrome 2
Long QT syndrome
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA030488

rs_778135438

5 SubmittersRCV000519050 RCV000631573 RCV001811024 RCV006550275

NM_000238.4(KCNH2):c.1342G>T (p.Ala448Ser)

SNV
Germline

Chr7:150952640

Conflicting classifications of pathogenicity

Long QT syndrome 2
Long QT syndrome
Cardiac arrhythmia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA027793

rs_767723985

4 SubmittersRCV000522527 RCV000528889 RCV001841407 RCV002225643

NM_001148.6(ANK2):c.1986A>G (p.Gly662=)

SNV
Germline

Chr4:113282779

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3050415

rs_765012746

3 SubmittersRCV000523728 RCV001359909 RCV003278866

NM_001148.6(ANK2):c.7868C>G (p.Ser2623Cys)

SNV
Germline

Chr4:113356486

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051664

rs_116253689

4 SubmittersRCV000520940 RCV000807675 RCV002413410 RCV002481711

NM_001148.6(ANK2):c.8041C>G (p.Leu2681Val)

SNV
Germline

Chr4:113356659

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA357932913

rs_1489919946

3 SubmittersRCV000522406 RCV001853634 RCV002413409

NM_000218.3(KCNQ1):c.526T>C (p.Trp176Arg)

SNV
Germline

Chr11:2570676

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA379129880

rs_1554892900

3 SubmittersRCV000521673 RCV003647781

NM_000218.3(KCNQ1):c.943T>C (p.Tyr315His)

SNV
Germline

Chr11:2583456

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA379132979

rs_1554894448

2 SubmittersRCV000521598 RCV003532152

NM_000218.3(KCNQ1):c.1030G>A (p.Ala344Thr)

SNV
Germline

Chr11:2583543

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA379133132

rs_1554894481

3 SubmittersRCV000523507 RCV001851477

NM_000719.7(CACNA1C):c.5138A>G (p.Asp1713Gly)

SNV
Germline

Chr12:2679490

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA6389715

rs_769297492

4 SubmittersRCV000523216 RCV000706517 RCV002350146 RCV004767320

NM_003098.3(SNTA1):c.1388T>G (p.Leu463Arg)

SNV
Germline

Chr20:33408738

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 12

Criteria Provided
Conflicting Classifications

CA9816971

rs_188835994

4 SubmittersRCV000520393 RCV001349981 RCV002395247 RCV002481701

NM_001743.6(CALM2):c.328A>T (p.Met110Leu)

SNV
Germline

Chr2:47161816

Conflicting classifications of pathogenicity

Long QT syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA346719212

rs_1553431711

2 SubmittersRCV000544269 RCV000624723

NM_000335.5(SCN5A):c.934+4C>T

SNV
Germline

Chr3:38609730

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA065923

rs_182050752

8 SubmittersRCV001146248 RCV001146249 RCV001146250 RCV001193951 RCV000620739 RCV000987233 RCV001613349 RCV001149033 RCV001149034 RCV001841481 RCV003486860

NM_000335.5(SCN5A):c.4293G>A (p.Arg1431=)

SNV
Germline

Chr3:38557234

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA063026

rs_199473246

6 SubmittersRCV001144566 RCV000608084 RCV001144567 RCV001144568 RCV001144569 RCV001144570 RCV001144571 RCV001841472 RCV002330862 RCV003539915

NM_001148.6(ANK2):c.2868C>T (p.Asn956=)

SNV
Germline

Chr4:113318588

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3050692

rs_145960256

4 SubmittersRCV000545437 RCV001148159 RCV001672827 RCV002438302

NM_001148.6(ANK2):c.9172C>T (p.Arg3058Cys)

SNV
Germline

Chr4:113357790

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051879

rs_188282049

3 SubmittersRCV000531915 RCV002377013 RCV003226939

NM_001148.6(ANK2):c.10627A>G (p.Ile3543Val)

SNV
Germline

Chr4:113359245

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3052094

rs_753102215

4 SubmittersRCV000538991 RCV001570471 RCV002413450 RCV002506295

NM_033337.3(CAV3):c.99C>A (p.Asn33Lys)

SNV
Germline

Chr3:8733975

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA351661574

rs_1008642

1 SubmittersRCV000539792

NM_001148.6(ANK2):c.8239C>T (p.Arg2747Cys)

SNV
Germline

Chr4:113356857

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051735

rs_376628082

3 SubmittersRCV000541542 RCV000619771 RCV001584245

NM_001148.6(ANK2):c.8330G>T (p.Cys2777Phe)

SNV
Germline

Chr4:113356948

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051753

rs_769322588

2 SubmittersRCV000530030 RCV002413452

NM_001148.6(ANK2):c.10976G>A (p.Arg3659His)

SNV
Germline

Chr4:113365126

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided
ANK2-related disorder

Criteria Provided
Conflicting Classifications

CA3052174

rs_556640912

4 SubmittersRCV000552995 RCV000621641 RCV001550111 RCV004745446

NM_001148.6(ANK2):c.7964C>T (p.Ser2655Leu)

SNV
Germline

Chr4:113356582

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051688

rs_373153154

4 SubmittersRCV000539884 RCV000998281 RCV002420360

NM_001148.6(ANK2):c.9915T>G (p.Pro3305=)

SNV
Germline

Chr4:113358533

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3052002

rs_753252376

3 SubmittersRCV000526989 RCV002384055 RCV002490962

NM_001148.6(ANK2):c.11009C>A (p.Thr3670Asn)

SNV
Germline

Chr4:113365159

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
not specified
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3052178

rs_45608232

5 SubmittersRCV000533401 RCV000620042 RCV001420962 RCV002497064 RCV004592550

NM_033337.3(CAV3):c.384C>T (p.Phe128=)

SNV
Germline

Chr3:8745795

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Long QT syndrome
Cardiomyopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2236359

rs_773934743

7 SubmittersRCV000593370 RCV000726601 RCV001078913 RCV000769178 RCV002358448

NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro)

SNV
Germline

Chr4:113355801

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Conduction disorder of the heart
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051552

rs_201693280

7 SubmittersRCV000537225 RCV000786103 RCV001256865 RCV001264520 RCV002377012

NM_001148.6(ANK2):c.7978G>C (p.Val2660Leu)

SNV
Germline

Chr4:113356596

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051692

rs_140042254

2 SubmittersRCV000552516 RCV004992318

NM_001148.6(ANK2):c.9880A>C (p.Asn3294His)

SNV
Germline

Chr4:113358498

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051998

rs_763211298

3 SubmittersRCV000551708 RCV000786099 RCV000619323

NM_001148.6(ANK2):c.11862C>T (p.Asp3954=)

SNV
Germline

Chr4:113381459

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3052443

rs_755240882

4 SubmittersRCV000543301 RCV001683556 RCV002253502 RCV004992315

NM_000238.4(KCNH2):c.3448C>A (p.Leu1150Met)

SNV
Germline

Chr7:150945397

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
KCNH2-related disorder

Criteria Provided
Conflicting Classifications

CA039050

rs_754883792

7 SubmittersRCV000555194 RCV001570323 RCV001841446 RCV002456056 RCV004740309

NM_000238.4(KCNH2):c.77-5C>A

SNV
Germline

Chr7:150974946

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA040580

rs_72549419

4 SubmittersRCV000558920 RCV001841449 RCV004629233

NM_000238.4(KCNH2):c.3251C>T (p.Pro1084Leu)

SNV
Germline

Chr7:150946956

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia
Long QT syndrome 2
Short QT syndrome type 1
Long QT syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA038119

rs_762510312

6 SubmittersRCV000535906 RCV000620231 RCV001841442 RCV003335453 RCV005235385 RCV004691849

NM_000238.4(KCNH2):c.461G>A (p.Trp154Ter)

SNV
Germline

Chr7:150959583

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369863610

rs_1554428173

1 SubmittersRCV000544265

NM_005751.5(AKAP9):c.441A>T (p.Glu147Asp)

SNV
Germline

Chr7:91992920

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4335816

rs_185898118

2 SubmittersRCV001422359 RCV002330831

NM_005751.5(AKAP9):c.4163C>T (p.Ser1388Leu)

SNV
Germline

Chr7:92029909

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11
not specified

Criteria Provided
Conflicting Classifications

CA4336499

rs_143565222

5 SubmittersRCV000547852 RCV002330830 RCV002506297 RCV004701608

NM_005751.5(AKAP9):c.5369-3T>C

SNV
Germline

Chr7:92052723

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4336782

rs_375778014

3 SubmittersRCV000542815 RCV002350182 RCV002476104

NM_000238.4(KCNH2):c.3153-3C>T

SNV
Germline

Chr7:150947057

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA579075293

rs_1165322354

2 SubmittersRCV000547761 RCV001841441

NM_000238.4(KCNH2):c.2062C>T (p.Gln688Ter)

SNV
Germline

Chr7:150951004

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369857554

rs_1554425486

1 SubmittersRCV000529646

NM_001458.5(FLNC):c.5500C>T (p.His1834Tyr)

SNV
Germline

Chr7:128850904

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hypertrophic cardiomyopathy 26
Distal myopathy with posterior leg and anterior hand involvement
Myofibrillar myopathy 5
Congenital long QT syndrome
Hypertrophic cardiomyopathy 26
Distal myopathy with posterior leg and anterior hand involvement
Myofibrillar myopathy 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4475711

rs_377141822

8 SubmittersRCV001532120 RCV002350349 RCV005398833 RCV006261976 RCV006606656

NM_005751.5(AKAP9):c.1334T>C (p.Ile445Thr)

SNV
Germline

Chr7:92001251

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4336001

rs_147302252

5 SubmittersRCV000556054 RCV001508213 RCV002384056 RCV002476103

NM_005751.5(AKAP9):c.2945C>A (p.Ser982Tyr)

SNV
Germline

Chr7:92002862

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype
AKAP9-related disorder

Criteria Provided
Conflicting Classifications

CA4336219

rs_374340343

4 SubmittersRCV000623781 RCV001432207 RCV002438304 RCV003979946

NM_005751.5(AKAP9):c.3118A>G (p.Lys1040Glu)

SNV
Germline

Chr7:92003035

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 11
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368125674

rs_1265369157

3 SubmittersRCV000546415 RCV000764726 RCV002323921

NM_005751.5(AKAP9):c.5528T>C (p.Met1843Thr)

SNV
Germline

Chr7:92052885

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368131269

rs_538621911

2 SubmittersRCV000537606 RCV002350186

NM_000238.4(KCNH2):c.1808G>A (p.Gly603Asp)

SNV
Germline

Chr7:150951585

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA369858030

rs_1554425806

2 SubmittersRCV000550461 RCV006550315

NM_005751.5(AKAP9):c.8677G>C (p.Asp2893His)

SNV
Germline

Chr7:92084670

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337550

rs_142573103

4 SubmittersRCV000529741 RCV000786278 RCV002448630

NM_005751.5(AKAP9):c.2370G>A (p.Met790Ile)

SNV
Germline

Chr7:92002287

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368123959

rs_1298504605

3 SubmittersRCV000552739 RCV000786087 RCV004629235

NM_005751.5(AKAP9):c.2609G>A (p.Cys870Tyr)

SNV
Germline

Chr7:92002526

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4336166

rs_187255726

3 SubmittersRCV000533589 RCV002438303 RCV003139754

NM_005751.5(AKAP9):c.4274A>C (p.Glu1425Ala)

SNV
Germline

Chr7:92031540

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336532

rs_747689685

2 SubmittersRCV000528417 RCV004992321

NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly)

SNV
Germline

Chr11:2571364

Conflicting classifications of pathogenicity

Long QT syndrome
Beckwith-Wiedemann syndrome
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Atrial fibrillation, familial, 3
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA039326

rs_368011737

3 SubmittersRCV000559784 RCV000764972 RCV004023761

NM_000890.5(KCNJ5):c.1190A>G (p.Glu397Gly)

SNV
Germline

Chr11:128916661

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6358019

rs_780934792

4 SubmittersRCV000531349 RCV000786147 RCV002341266

NM_000218.3(KCNQ1):c.834C>G (p.Tyr278Ter)

SNV
Germline

Chr11:2572899

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379131455

rs_1554893228

1 SubmittersRCV000548008

NM_000719.7(CACNA1C):c.3391G>A (p.Asp1131Asn)

SNV
Germline

Chr12:2608545

Conflicting classifications of pathogenicity

Long QT syndrome
Ventricular tachycardia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389231

rs_776318939

3 SubmittersRCV000547243 RCV000852444 RCV004023765

NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val)

SNV
Germline

Chr12:2688673

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Timothy syndrome
Brugada syndrome 3
not specified

Criteria Provided
Conflicting Classifications

CA6390050

rs_374991642

4 SubmittersRCV000546112 RCV000618390 RCV000763839 RCV001255539

NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn)

SNV
Germline

Chr12:2688721

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA6390069

rs_373503739

5 SubmittersRCV000551631 RCV000621450 RCV001310630 RCV003403259

NM_000719.7(CACNA1C):c.3988C>T (p.Leu1330=)

SNV
Germline

Chr12:2651682

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA477879971

rs_1455874684

3 SubmittersRCV001402287 RCV002377010 RCV006556183

NM_000719.7(CACNA1C):c.898A>G (p.Asn300Asp)

SNV
Germline

Chr12:2486244

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA6388549

rs_200289321

3 SubmittersRCV000546874 RCV000619814 RCV002490959

NM_000719.7(CACNA1C):c.2220A>G (p.Gly740=)

SNV
Germline

Chr12:2582938

Conflicting classifications of pathogenicity

Long QT syndrome
CACNA1C-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA231585597

rs_940854113

3 SubmittersRCV000544521 RCV003915490 RCV004023764

NM_000719.7(CACNA1C):c.6334G>C (p.Glu2112Gln)

SNV
Germline

Chr12:2691116

Conflicting classifications of pathogenicity

Long QT syndrome
Brugada syndrome 3
Long QT syndrome 8
Timothy syndrome

Criteria Provided
Conflicting Classifications

CA383387381

rs_1279028766

2 SubmittersRCV000553479 RCV002490958

NM_000719.7(CACNA1C):c.2460+6G>A

SNV
Germline

Chr12:2585502

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
not specified
Long QT syndrome 8
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA6388970

rs_369246066

10 SubmittersRCV000533865 RCV000994772 RCV001700403 RCV002470905 RCV003925591

NM_000719.7(CACNA1C):c.3790G>A (p.Val1264Met)

SNV
Germline

Chr12:2611975

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389309

rs_760543068

4 SubmittersRCV000543032 RCV002264954 RCV004023766

NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln)

SNV
Germline

Chr12:2682561

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Timothy syndrome
Brugada syndrome 3
Condition: not provided
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA6389870

rs_764212214

5 SubmittersRCV000528554 RCV000618206 RCV000763837 RCV004791524 RCV006249648

NM_000719.7(CACNA1C):c.5729G>A (p.Arg1910Gln)

SNV
Germline

Chr12:2686214

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
CACNA1C-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6389957

rs_190288386

4 SubmittersRCV000531826 RCV002350180 RCV003419923 RCV006450224

NM_005184.4(CALM3):c.422A>G (p.Glu141Gly)

SNV
Germline

Chr19:46609125

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA406473868

rs_1555814427

1 SubmittersRCV002231029

NM_003098.3(SNTA1):c.910C>T (p.Leu304=)

SNV
Germline

Chr20:33412426

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA9817095

rs_141775350

3 SubmittersRCV000546924 RCV000620271 RCV000611738

NM_172201.2(KCNE2):c.190A>G (p.Ile64Val)

SNV
Germline

Chr21:34370668

Conflicting classifications of pathogenicity

Long QT syndrome 6
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA410196609

rs_1555837082

2 SubmittersRCV000555620 RCV002413588

NM_003098.3(SNTA1):c.1006C>T (p.Arg336Trp)

SNV
Germline

Chr20:33412330

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9817082

rs_747104878

2 SubmittersRCV000539589 RCV002420361

NM_005751.5(AKAP9):c.11297G>A (p.Arg3766Gln)

SNV
Germline

Chr7:92102793

Conflicting classifications of pathogenicity

Wolff-Parkinson-White pattern
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4338138

rs_137892407

3 SubmittersRCV000656165 RCV001309086 RCV004024588

NM_001743.6(CALM2):c.414C>G (p.Asn138Lys)

SNV
Germline

Chr2:47161730

Pathogenic

Long QT syndrome 15

Criteria Provided
Single Submitter

CA346719008

rs_1553431702

1 SubmittersRCV000578313

NM_000238.4(KCNH2):c.2626G>T (p.Glu876Ter)

SNV
Germline

Chr7:150948510

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA369853830

rs_1554424688

2 SubmittersRCV000578653 RCV001385332

NM_000335.5(SCN5A):c.3509-1G>C

SNV
Germline

Chr3:38575452

Likely pathogenic

Long QT syndrome 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352138303

rs_1553698563

3 SubmittersRCV000586276 RCV002456294 RCV003767344

NM_001148.6(ANK2):c.1783-4A>G

SNV
Germline

Chr4:113278456

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3050378

rs_755543636

3 SubmittersRCV000589747 RCV000605802 RCV006463464

NM_000719.7(CACNA1C):c.2854-4G>A

SNV
Germline

Chr12:2601850

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
CACNA1C-related disorder
Brugada syndrome 3
Long QT syndrome 8
Timothy syndrome
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures

Criteria Provided
Conflicting Classifications

CA6389097

rs_113929946

6 SubmittersRCV000589613 RCV001084807 RCV002438525 RCV003905508 RCV003224341

NM_003098.3(SNTA1):c.101G>A (p.Ser34Asn)

SNV
Germline

Chr20:33443520

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 12
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA313279110

rs_963277918

6 SubmittersRCV000588163 RCV001803869 RCV002367992 RCV002530927

NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala)

SNV
Germline

Chr12:2691120

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA231619906

rs_972053240

3 SubmittersRCV000591624 RCV000798962 RCV002368026

NM_000218.3(KCNQ1):c.1129-8G>A

SNV
Germline

Chr11:2587562

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA027313

rs_200612600

5 SubmittersRCV000605561 RCV001504046 RCV001841494

NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys)

SNV
Germline

Chr21:34449498

Conflicting classifications of pathogenicity

Rare genetic deafness
Condition: not provided
Long QT syndrome 5
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA410198408

rs_1402178514

4 SubmittersRCV000612549 RCV000786138 RCV004777761 RCV002385950

NM_000219.6(KCNE1):c.-5C>A

SNV
Germline

Chr21:34449639

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA320425589

rs_191334763

6 SubmittersRCV000607041 RCV000617837 RCV001139932 RCV001139933 RCV001553447

NM_001148.6(ANK2):c.1287+10T>C

SNV
Germline

Chr4:113258158

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3050236

rs_751370687

3 SubmittersRCV000606277 RCV000631835 RCV001151108

NM_001148.6(ANK2):c.3224+6A>G

SNV
Germline

Chr4:113332076

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3050793

rs_751666292

2 SubmittersRCV001374142 RCV001698055

NM_001148.6(ANK2):c.7266C>T (p.Ser2422=)

SNV
Germline

Chr4:113355884

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051566

rs_150349588

5 SubmittersRCV000621610 RCV000631860 RCV001149936 RCV001704827

NM_000335.5(SCN5A):c.4914G>A (p.Gly1638=)

SNV
Germline

Chr3:38551455

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA433134248

rs_1419998623

7 SubmittersRCV000603218 RCV001144339 RCV001144341 RCV001144338 RCV001144340 RCV001144342 RCV001144343 RCV001841778 RCV003657036 RCV004025006

NM_001148.6(ANK2):c.85-5C>T

SNV
Germline

Chr4:113174411

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
ANK2-related disorder

Criteria Provided
Conflicting Classifications

CA104496998

rs_372560419

4 SubmittersRCV001465731 RCV001704787 RCV002413761 RCV003953084

NM_001148.6(ANK2):c.6642G>A (p.Pro2214=)

SNV
Germline

Chr4:113355260

Conflicting classifications of pathogenicity

not specified
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3051449

rs_775073103

4 SubmittersRCV000605942 RCV001147453 RCV002360477 RCV005091748

NM_000238.4(KCNH2):c.732G>T (p.Ala244=)

SNV
Germline

Chr7:150958243

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Long QT syndrome 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA458872144

rs_1255299868

4 SubmittersRCV000600399 RCV000631813 RCV001164706 RCV004024929

NM_000238.4(KCNH2):c.3090G>A (p.Pro1030=)

SNV
Germline

Chr7:150947390

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA458644856

rs_778604642

5 SubmittersRCV000608733 RCV001232861 RCV001841779 RCV004025013

NM_005751.5(AKAP9):c.4917+3A>C

SNV
Germline

Chr7:92040901

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336680

rs_200730225

3 SubmittersRCV000602727 RCV001347317 RCV002350466

NM_000218.3(KCNQ1):c.1733-3T>C

SNV
Germline

Chr11:2777973

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA032470

rs_372912362

4 SubmittersRCV001317641 RCV001719074 RCV001841775 RCV002404693

NM_000719.7(CACNA1C):c.2634C>T (p.Ser878=)

SNV
Germline

Chr12:2593316

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389017

rs_752800134

3 SubmittersRCV000602406 RCV001209344 RCV004024971

NM_000218.3(KCNQ1):c.1596G>T (p.Ala532=)

SNV
Germline

Chr11:2775965

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA216320417

rs_558452873

5 SubmittersRCV000604417 RCV001427756 RCV001841782 RCV004629258

NM_000219.6(KCNE1):c.111C>T (p.Ser37=)

SNV
Germline

Chr21:34449524

Conflicting classifications of pathogenicity

Long QT syndrome 5
not specified
Cardiovascular phenotype
Jervell and Lange-Nielsen syndrome 2

Criteria Provided
Conflicting Classifications

CA320425470

rs_150458884

4 SubmittersRCV001137707 RCV000602828 RCV000617220 RCV001137706

NM_000335.5(SCN5A):c.4167C>T (p.Thr1389=)

SNV
Germline

Chr3:38560222

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA062902

rs_747356664

6 SubmittersRCV000619451 RCV001149268 RCV001149270 RCV001149269 RCV001149271 RCV001149272 RCV001149273 RCV001644709 RCV001841791

NM_033337.3(CAV3):c.32C>T (p.Ala11Val)

SNV
Germline

Chr3:8733908

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA69861862

rs_867194464

3 SubmittersRCV000621948 RCV000631558 RCV001764730

NM_033337.3(CAV3):c.402G>C (p.Ala134=)

SNV
Germline

Chr3:8745813

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Cardiomyopathy
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA2236366

rs_559206877

4 SubmittersRCV000617947 RCV000734249 RCV000769181 RCV001078887

NM_001148.6(ANK2):c.813T>C (p.His271=)

SNV
Germline

Chr4:113242131

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3050121

rs_774848857

6 SubmittersRCV000618127 RCV000865198 RCV001146864 RCV001584436 RCV001532898

NM_001148.6(ANK2):c.5641G>T (p.Val1881Leu)

SNV
Germline

Chr4:113354259

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3051268

rs_762824375

2 SubmittersRCV000619045 RCV001868097

NM_001148.6(ANK2):c.5758G>A (p.Gly1920Arg)

SNV
Germline

Chr4:113354376

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051285

rs_140189724

7 SubmittersRCV000617415 RCV001055077 RCV001149833 RCV001264521 RCV003233762

NM_001148.6(ANK2):c.6744T>C (p.Ser2248=)

SNV
Germline

Chr4:113355362

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3051466

rs_529758377

5 SubmittersRCV000620179 RCV001148375 RCV001442076 RCV001555663 RCV006459671

NM_001148.6(ANK2):c.6973G>C (p.Asp2325His)

SNV
Germline

Chr4:113355591

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA357928930

rs_1298469624

4 SubmittersRCV000619857 RCV000779698 RCV000806581 RCV006459670

NM_001148.6(ANK2):c.7168A>C (p.Lys2390Gln)

SNV
Germline

Chr4:113355786

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051548

rs_151218210

3 SubmittersRCV000618782 RCV001236673 RCV001796142

NM_001148.6(ANK2):c.7169A>T (p.Lys2390Met)

SNV
Germline

Chr4:113355787

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051549

rs_769894397

3 SubmittersRCV000619005 RCV001860365 RCV002498995

NM_001148.6(ANK2):c.7553A>G (p.Glu2518Gly)

SNV
Germline

Chr4:113356171

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA103815270

rs_926379811

3 SubmittersRCV000618049 RCV002491325 RCV003647796

NM_001148.6(ANK2):c.8387C>T (p.Pro2796Leu)

SNV
Germline

Chr4:113357005

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051758

rs_182956726

3 SubmittersRCV000619782 RCV000631659 RCV001591384

NM_001148.6(ANK2):c.8647T>G (p.Phe2883Val)

SNV
Germline

Chr4:113357265

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051804

rs_778307564

3 SubmittersRCV000621705 RCV001868116 RCV003333753

NM_001148.6(ANK2):c.8927C>G (p.Ser2976Cys)

SNV
Germline

Chr4:113357545

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Intellectual disability
Condition: not provided
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051850

rs_371343942

6 SubmittersRCV000618854 RCV001051685 RCV001252391 RCV001571397 RCV002483724

NM_001148.6(ANK2):c.10118C>T (p.Ala3373Val)

SNV
Germline

Chr4:113358736

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3052026

rs_371358639

5 SubmittersRCV000619754 RCV000762106 RCV001148598 RCV001247601

NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter)

SNV
Germline

Chr7:150947014

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Long QT syndrome
Short QT syndrome type 1
Long QT syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA369852293

rs_1554423871

3 SubmittersRCV000621866 RCV001389496 RCV005034195

NM_000238.4(KCNH2):c.2616C>A (p.Pro872=)

SNV
Germline

Chr7:150948520

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA458645023

rs_374296728

2 SubmittersRCV000621172 RCV001855268

NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu)

SNV
Germline

Chr7:150952691

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA369860054

rs_1554426244

2 SubmittersRCV000618256 RCV000631556

NM_000238.4(KCNH2):c.473-5C>T

SNV
Germline

Chr7:150958507

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA579075495

rs_1181633993

3 SubmittersRCV000618400 RCV001455491 RCV003117425

NM_005751.5(AKAP9):c.464C>A (p.Thr155Asn)

SNV
Germline

Chr7:91992943

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4335825

rs_142632541

3 SubmittersRCV000620708 RCV001868113 RCV002506506

NM_005751.5(AKAP9):c.674T>C (p.Met225Thr)

SNV
Germline

Chr7:91994718

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4335879

rs_143717354

3 SubmittersRCV000619608 RCV001057855 RCV002491322

NM_005751.5(AKAP9):c.1204G>A (p.Glu402Lys)

SNV
Germline

Chr7:92001121

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4335977

rs_146022334

5 SubmittersRCV000617314 RCV001238149 RCV001332665

NM_005751.5(AKAP9):c.1259A>G (p.Gln420Arg)

SNV
Germline

Chr7:92001176

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4335991

rs_375876545

2 SubmittersRCV000620623 RCV001327578

NM_005751.5(AKAP9):c.1508A>G (p.Gln503Arg)

SNV
Germline

Chr7:92001425

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4336023

rs_374700234

3 SubmittersRCV000619091 RCV000811832 RCV002491314

NM_005751.5(AKAP9):c.1900G>A (p.Glu634Lys)

SNV
Germline

Chr7:92001817

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome 11
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336071

rs_368006874

3 SubmittersRCV000620320 RCV002483717 RCV003647794

NM_005751.5(AKAP9):c.1936A>G (p.Ile646Val)

SNV
Germline

Chr7:92001853

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336074

rs_144918888

2 SubmittersRCV000620916 RCV001049396

NM_005751.5(AKAP9):c.4099T>A (p.Cys1367Ser)

SNV
Germline

Chr7:92022960

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336480

rs_762203528

2 SubmittersRCV000621080 RCV003767785

NM_005751.5(AKAP9):c.4149-4T>C

SNV
Germline

Chr7:92029891

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336497

rs_565975524

2 SubmittersRCV000621247 RCV003647795

NM_005751.5(AKAP9):c.4927A>G (p.Ile1643Val)

SNV
Germline

Chr7:92042055

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Cardiomyopathy
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336695

rs_141990258

3 SubmittersRCV000618543 RCV000853015 RCV005091769

NM_005751.5(AKAP9):c.5705G>A (p.Arg1902His)

SNV
Germline

Chr7:92061363

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336896

rs_369082700

2 SubmittersRCV000617780 RCV001297468

NM_005751.5(AKAP9):c.8020-5T>C

SNV
Germline

Chr7:92082517

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA161886841

rs_375175124

2 SubmittersRCV000618060 RCV000631874

NM_005751.5(AKAP9):c.9446A>G (p.Glu3149Gly)

SNV
Germline

Chr7:92093184

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4337769

rs_150579291

2 SubmittersRCV000617444 RCV001855269

NM_005751.5(AKAP9):c.11495G>A (p.Arg3832His)

SNV
Germline

Chr7:92107371

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4338214

rs_781296769

2 SubmittersRCV000617515 RCV001868110

NM_005751.5(AKAP9):c.11707G>A (p.Ala3903Thr)

SNV
Germline

Chr7:92110142

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4338288

rs_201298286

2 SubmittersRCV000617539 RCV001307333

NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter)

SNV
Germline

Chr11:2572059

Pathogenic

Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA379130978

rs_1554893091

3 SubmittersRCV000618009 RCV001208025 RCV001841804

NM_000218.3(KCNQ1):c.902A>T (p.Asp301Val)

SNV
Germline

Chr11:2572967

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA379131717

rs_1554893260

2 SubmittersRCV000619330 RCV001043791

NM_000218.3(KCNQ1):c.1198C>G (p.Pro400Ala)

SNV
Germline

Chr11:2587639

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA379134775

rs_1489132337

5 SubmittersRCV000621150 RCV000818634 RCV001841785 RCV002281118

NM_000719.7(CACNA1C):c.482G>A (p.Arg161Gln)

SNV
Germline

Chr12:2448980

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6388469

rs_777210376

3 SubmittersRCV000617844 RCV001320845 RCV004812341

NM_000719.7(CACNA1C):c.1435G>A (p.Val479Met)

SNV
Germline

Chr12:2549987

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6388735

rs_752677964

3 SubmittersRCV000617984 RCV000688672 RCV002261130

NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met)

SNV
Germline

Chr12:2567652

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided
Long QT syndrome 8
Brugada syndrome 3
Timothy syndrome

Criteria Provided
Conflicting Classifications

CA6388850

rs_763738559

6 SubmittersRCV000617554 RCV000631714 RCV001591382 RCV002483715

NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr)

SNV
Germline

Chr12:2651643

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6389433

rs_749588699

3 SubmittersRCV000620862 RCV001213243 RCV002261133

NM_000719.7(CACNA1C):c.5441A>G (p.Asn1814Ser)

SNV
Germline

Chr12:2679793

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA6389782

rs_780210232

2 SubmittersRCV000622139 RCV001855273

NM_000719.7(CACNA1C):c.5600G>A (p.Arg1867Gln)

SNV
Germline

Chr12:2685762

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6389907

rs_535350857

3 SubmittersRCV000621335 RCV000706551 RCV004721480

NM_000719.7(CACNA1C):c.5737G>A (p.Asp1913Asn)

SNV
Germline

Chr12:2686222

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6389960

rs_181502604

3 SubmittersRCV000618088 RCV001370869 RCV001824844

NM_000719.7(CACNA1C):c.5905G>A (p.Val1969Ile)

SNV
Germline

Chr12:2688567

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA6390023

rs_748408098

2 SubmittersRCV000618158 RCV002531806

NM_000719.7(CACNA1C):c.6022G>A (p.Ala2008Thr)

SNV
Germline

Chr12:2688684

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA6390054

rs_765885227

2 SubmittersRCV000618992 RCV001211676

NM_003098.3(SNTA1):c.926C>T (p.Thr309Ile)

SNV
Germline

Chr20:33412410

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA9817092

rs_200709948

2 SubmittersRCV000621862 RCV001358998

NM_000219.6(KCNE1):c.106C>T (p.Arg36Cys)

SNV
Germline

Chr21:34449529

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA320425481

rs_372398235

4 SubmittersRCV000619059 RCV001868101 RCV002255154 RCV004777764

NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn)

SNV
Unknown

Chr7:150974926

Likely pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369865998

rs_199472833

1 SubmittersRCV000624163

NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe)

SNV
Germline

Chr3:38550434

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA065024

rs_772258197

8 SubmittersRCV000622370 RCV001143898 RCV001145795 RCV001143899 RCV001143900 RCV001143901 RCV001143902 RCV001841808 RCV004985018

NM_000238.4(KCNH2):c.1703G>C (p.Trp568Ser)

SNV
Germline

Chr7:150951690

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA369858724

rs_1554425880

2 SubmittersRCV000622940 RCV006454695

NM_005751.5(AKAP9):c.9710G>A (p.Arg3237Gln)

SNV
Germline

Chr7:92095154

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337826

rs_757123477

2 SubmittersRCV000622915 RCV002377333

NM_000218.3(KCNQ1):c.934A>T (p.Thr312Ser)

SNV
Germline

Chr11:2583447

Likely pathogenic

Long QT syndrome 1

No Assertion Criteria Provided

CA379132966

rs_1554894445

1 SubmittersRCV000625723

NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter)

SNV
Germline

Chr11:2445192

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA379116142

rs_1554958043

2 SubmittersRCV000627202 RCV000631555

NM_000335.5(SCN5A):c.3301G>A (p.Ala1101Thr)

SNV
Germline

Chr3:38579420

Conflicting classifications of pathogenicity

Cardiovascular phenotype
8 conditions
Condition: not provided
Cardiac arrhythmia
Long QT syndrome 3
Brugada syndrome 1

Criteria Provided
Conflicting Classifications

CA352138771

rs_1481582794

5 SubmittersRCV002458033 RCV002507082 RCV003655151 RCV006552564 RCV005411516

NM_001148.6(ANK2):c.877G>A (p.Asp293Asn)

SNV
Germline

Chr4:113242195

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3050127

rs_752213208

7 SubmittersRCV000631700 RCV001756043 RCV002377357 RCV002492958

NM_001148.6(ANK2):c.6586G>A (p.Gly2196Ser)

SNV
Germline

Chr4:113355204

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051436

rs_776545207

4 SubmittersRCV000631719 RCV002483783 RCV003302990 RCV004808810

NM_001148.6(ANK2):c.6143A>G (p.Gln2048Arg)

SNV
Germline

Chr4:113354761

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051371

rs_201628725

7 SubmittersRCV000631653 RCV001145498 RCV001702696 RCV002358765

NM_001148.6(ANK2):c.8087C>T (p.Pro2696Leu)

SNV
Germline

Chr4:113356705

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051708

rs_371879286

3 SubmittersRCV000631782 RCV002420685 RCV005870710

NM_001148.6(ANK2):c.8404G>C (p.Asp2802His)

SNV
Germline

Chr4:113357022

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051766

rs_780423161

2 SubmittersRCV000631578 RCV002448937

NM_001148.6(ANK2):c.7742G>A (p.Arg2581Lys)

SNV
Germline

Chr4:113356360

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051647

rs_369041815

3 SubmittersRCV000631669 RCV002404742 RCV002499041

NM_001148.6(ANK2):c.10147G>A (p.Ala3383Thr)

SNV
Germline

Chr4:113358765

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3052029

rs_374257100

4 SubmittersRCV000631671 RCV000786097 RCV002483781 RCV004025409

NM_001148.6(ANK2):c.10503A>G (p.Ile3501Met)

SNV
Germline

Chr4:113359121

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3052077

rs_370472530

5 SubmittersRCV000631625 RCV002404740 RCV002477381 RCV003227812

NM_001148.6(ANK2):c.10975C>T (p.Arg3659Cys)

SNV
Germline

Chr4:113365125

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3052172

rs_370699621

3 SubmittersRCV000631655 RCV002492954 RCV005367469

NM_000238.4(KCNH2):c.2735G>A (p.Arg912Gln)

SNV
Germline

Chr7:150947836

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA169072692

rs_958442820

4 SubmittersRCV000631708 RCV001841818 RCV002438654

NM_000238.4(KCNH2):c.927C>T (p.His309=)

SNV
Germline

Chr7:150957492

Conflicting classifications of pathogenicity

Long QT syndrome

Criteria Provided
Conflicting Classifications

CA072262

rs_775056804

2 SubmittersRCV000631764

NM_000238.4(KCNH2):c.431A>T (p.Asp144Val)

SNV
Germline

Chr7:150959613

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
KCNH2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA039396

rs_146284716

6 SubmittersRCV000631559 RCV001841813 RCV002331109 RCV004547779 RCV004783828

NM_000238.4(KCNH2):c.2238C>G (p.Ala746=)

SNV
Germline

Chr7:150950328

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 2
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA031439

rs_765110115

5 SubmittersRCV000631810 RCV001162549 RCV001841825 RCV002431864

NM_005751.5(AKAP9):c.4351A>G (p.Met1451Val)

SNV
Germline

Chr7:92038431

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA368128560

rs_1330827109

3 SubmittersRCV000631699 RCV002331111 RCV002263849

NM_005751.5(AKAP9):c.6302A>G (p.Gln2101Arg)

SNV
Germline

Chr7:92066518

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA161915778

rs_201545032

2 SubmittersRCV000631665 RCV002360507

NM_005751.5(AKAP9):c.9689A>G (p.Lys3230Arg)

SNV
Germline

Chr7:92095133

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA4337820

rs_192845338

4 SubmittersRCV000631842 RCV002385984 RCV003139958 RCV005900122

NM_000238.4(KCNH2):c.1689G>A (p.Trp563Ter)

SNV
Germline

Chr7:150951704

Pathogenic

Long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA369858778

rs_199473517

2 SubmittersRCV000631644 RCV000760331

NM_005751.5(AKAP9):c.10220A>C (p.Glu3407Ala)

SNV
Germline

Chr7:92097179

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337907

rs_781775348

2 SubmittersRCV000631721 RCV002420684

NM_005751.5(AKAP9):c.9697C>T (p.Arg3233Cys)

SNV
Germline

Chr7:92095141

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4337821

rs_61757674

5 SubmittersRCV000631711 RCV002385983 RCV002477384 RCV003884674

NM_000218.3(KCNQ1):c.684-5C>T

SNV
Germline

Chr11:2572008

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA597109388

rs_1212611138

3 SubmittersRCV000631839 RCV001841829 RCV002360514

NM_000218.3(KCNQ1):c.1033-5C>G

SNV
Germline

Chr11:2585207

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA026945

rs_764094211

3 SubmittersRCV000631828 RCV002388012 RCV003591763

NM_000218.3(KCNQ1):c.1388G>C (p.Ser463Thr)

SNV
Germline

Chr11:2588849

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA029097

rs_184636161

5 SubmittersRCV000631635 RCV001841816 RCV002388007 RCV003323647

NM_000719.7(CACNA1C):c.5150C>T (p.Ala1717Val)

SNV
Germline

Chr12:2679502

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Brugada syndrome 3
Timothy syndrome
Long QT syndrome 8
Brugada syndrome 3
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Timothy syndrome
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA6389719

rs_201492706

4 SubmittersRCV000631674 RCV002334061 RCV002492955 RCV003224354

NM_000719.7(CACNA1C):c.3643G>A (p.Val1215Met)

SNV
Germline

Chr12:2610625

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389271

rs_747533547

2 SubmittersRCV000631624 RCV002343207

NM_000719.7(CACNA1C):c.609G>A (p.Val203=)

SNV
Germline

Chr12:2449107

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA477883239

rs_1417477759

3 SubmittersRCV000631562 RCV001811123 RCV002358763

NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)

SNV
Germline

Chr12:2679450

Conflicting classifications of pathogenicity

Long QT syndrome
Brugada syndrome 3
Timothy syndrome
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389709

rs_761966966

6 SubmittersRCV000631551 RCV000763835 RCV001194037 RCV001564124 RCV002343204

NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly)

SNV
Germline

Chr12:2679727

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8
not specified

Criteria Provided
Conflicting Classifications

CA6389766

rs_374177870

4 SubmittersRCV000631620 RCV002343206 RCV002507061 RCV004702215

NM_000719.7(CACNA1C):c.5684G>A (p.Arg1895Gln)

SNV
Germline

Chr12:2686169

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA6389951

rs_753954220

3 SubmittersRCV000631632 RCV002343208 RCV002507062

NM_000719.7(CACNA1C):c.5164T>G (p.Phe1722Val)

SNV
Germline

Chr12:2679516

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389723

rs_751493277

3 SubmittersRCV000631613 RCV001766344 RCV004025407

NM_006888.6(CALM1):c.398G>A (p.Gly133Glu)

SNV
Germline

Chr14:90404491

Likely pathogenic

Catecholaminergic polymorphic ventricular tachycardia 4
Long QT syndrome 14

Criteria Provided
Single Submitter

CA390690363

rs_1555366045

1 SubmittersRCV000652517

NM_172201.2(KCNE2):c.204G>A (p.Leu68=)

SNV
Germline

Chr21:34370682

Conflicting classifications of pathogenicity

Long QT syndrome 6
Cardiovascular phenotype
Atrial fibrillation, familial, 4
Long QT syndrome 6

Criteria Provided
Conflicting Classifications

CA10013424

rs_200403369

3 SubmittersRCV000648402 RCV002422367 RCV002477436

NM_000219.6(KCNE1):c.118G>A (p.Gly40Ser)

SNV
Germline

Chr21:34449517

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
KCNE1-related disorder
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA320425458

rs_778439872

5 SubmittersRCV000631757 RCV001461605 RCV002334062 RCV003892418 RCV004777776

NM_000219.6(KCNE1):c.139G>A (p.Val47Ile)

SNV
Germline

Chr21:34449496

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 5
not specified

Criteria Provided
Conflicting Classifications

CA320425428

rs_199473353

8 SubmittersRCV000631784 RCV000852955 RCV001811124 RCV002388010 RCV004777778 RCV005240352

NM_000238.4(KCNH2):c.197G>A (p.Cys66Tyr)

SNV
Germline

Chr7:150974821

Conflicting classifications of pathogenicity

Long QT syndrome 2
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA369865648

rs_1554430943

2 SubmittersRCV000656723 RCV002534252

NM_001148.6(ANK2):c.9682G>A (p.Val3228Met)

SNV
Germline

Chr4:113358300

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA3051964

rs_141013157

6 SubmittersRCV000658341 RCV000702095 RCV001145741 RCV002369780 RCV005405261

NM_005751.5(AKAP9):c.4840C>T (p.Arg1614Trp)

SNV
Germline

Chr7:92040821

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4336664

rs_772669837

4 SubmittersRCV000658388 RCV001055422 RCV002334221 RCV002499133

NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter)

SNV
Germline

Chr21:34449497

Pathogenic

Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5
Long QT syndrome

Criteria Provided
Single Submitter

CA320425430

rs_758346045

3 SubmittersRCV000659247 RCV004777810 RCV005091894

NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter)

SNV
Germline

Chr21:34449584

Pathogenic

Jervell and Lange-Nielsen syndrome 2
Long QT syndrome
Sensorineural hearing loss disorder
Long QT syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA410198579

rs_1244688796

4 SubmittersRCV000659249 RCV001855385 RCV005420508 RCV004777812

NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter)

SNV
Germline

Chr21:34449585

Pathogenic

Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5

No Assertion Criteria Provided

CA320425519

rs_779124360

2 SubmittersRCV000659248 RCV004777811

NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro)

SNV
Germline

Chr11:2572850

Pathogenic/Likely pathogenic

Prolonged QT interval
Long QT syndrome 1
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA379131259

rs_1564821090

4 SubmittersRCV000678458 RCV001258362 RCV003647798 RCV005652423

NM_001148.6(ANK2):c.7136C>A (p.Thr2379Lys)

SNV
Germline

Chr4:113355754

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051539

rs_753351853

5 SubmittersRCV000678779 RCV001049919 RCV002360704 RCV002477514 RCV003437392

NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=)

SNV
Germline

Chr11:2583545

Likely pathogenic

Long QT syndrome
Long QT syndrome 1

Criteria Provided
Single Submitter

CA472038461

rs_1800171

2 SubmittersRCV000678813 RCV002298736

NM_000335.5(SCN5A):c.2437-7T>C

SNV
Germline

Chr3:38586048

Conflicting classifications of pathogenicity

Long QT syndrome 3
Condition: not provided
Brugada syndrome 1

Criteria Provided
Conflicting Classifications

CA72928789

rs_1012068196

4 SubmittersRCV000678979 RCV001692259 RCV004698511

NM_001148.6(ANK2):c.6875G>A (p.Arg2292Gln)

SNV
Germline

Chr4:113355493

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA357928513

rs_1350377647

4 SubmittersRCV000678945 RCV000998278 RCV002360706 RCV002532183

NM_000238.4(KCNH2):c.2398+2T>A

SNV
Unknown

Chr7:150950166

Pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369855978

rs_1563152963

1 SubmittersRCV000678915

NM_000238.4(KCNH2):c.1848C>G (p.Tyr616Ter)

SNV
Unknown

Chr7:150951545

Pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369857960

rs_1563156868

1 SubmittersRCV000678933

NM_000890.5(KCNJ5):c.864G>T (p.Glu288Asp)

SNV
Germline

Chr11:128912137

Conflicting classifications of pathogenicity

Long QT syndrome 13
Hypertrophic cardiomyopathy
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA6357949

rs_771919907

3 SubmittersRCV000678924 RCV000852661 RCV006556531

NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg)

SNV
Germline

Chr11:2445453

Pathogenic/Likely pathogenic

Long QT syndrome 1
Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA379117657

rs_1325525794

6 SubmittersRCV000678948 RCV000692678 RCV003886428 RCV006342463

NM_005751.5(AKAP9):c.10865G>A (p.Trp3622Ter)

SNV
Germline

Chr7:92099838

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368158964

rs_1563145763

2 SubmittersRCV000680439 RCV003163081

NM_001148.6(ANK2):c.2930G>A (p.Arg977Gln)

SNV
Germline

Chr4:113330275

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3050746

rs_747390978

2 SubmittersRCV000695912 RCV002440479

NM_001148.6(ANK2):c.7499C>T (p.Thr2500Met)

SNV
Germline

Chr4:113356117

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
not specified

Criteria Provided
Conflicting Classifications

CA3051595

rs_200377748

4 SubmittersRCV000706781 RCV002388347 RCV003224381 RCV005405276

NM_001148.6(ANK2):c.6632C>T (p.Ala2211Val)

SNV
Germline

Chr4:113355250

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051444

rs_567825537

3 SubmittersRCV000705157 RCV002360823 RCV002485761

NM_001148.6(ANK2):c.6883A>G (p.Thr2295Ala)

SNV
Germline

Chr4:113355501

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA357928531

rs_1276641904

2 SubmittersRCV000699005 RCV002360786

NM_001148.6(ANK2):c.7153C>T (p.Pro2385Ser)

SNV
Germline

Chr4:113355771

Conflicting classifications of pathogenicity

Long QT syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051545

rs_372362152

3 SubmittersRCV000698978 RCV000779697 RCV002360784

NM_001148.6(ANK2):c.8812T>C (p.Ser2938Pro)

SNV
Germline

Chr4:113357430

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA103816386

rs_745764335

2 SubmittersRCV000697298 RCV002369898

NM_000238.4(KCNH2):c.2692+7C>T

SNV
Germline

Chr7:150948437

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Short QT syndrome type 1
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA034512

rs_372023163

3 SubmittersRCV000698339 RCV000712075 RCV002477591

NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln)

SNV
Germline

Chr7:150951702

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369858768

rs_199472924

1 SubmittersRCV000693704

NM_000238.4(KCNH2):c.443G>A (p.Arg148Gln)

SNV
Germline

Chr7:150959601

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype
Short QT syndrome type 1
Long QT syndrome 2
Long QT syndrome 2
KCNH2-related disorder

Criteria Provided
Conflicting Classifications

CA039494

rs_374912424

8 SubmittersRCV000687344 RCV001592868 RCV001841855 RCV002331330 RCV002493154 RCV003994080 RCV004740408

NM_001743.6(CALM2):c.434T>G (p.Met145Arg)

SNV
Germline

Chr2:47160792

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA346718873

rs_1558693760

1 SubmittersRCV000698791

NM_000238.4(KCNH2):c.2931C>A (p.Cys977Ter)

SNV
Germline

Chr7:150947640

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369853109

rs_761585108

1 SubmittersRCV000688235

NM_000238.4(KCNH2):c.2768C>T (p.Pro923Leu)

SNV
Germline

Chr7:150947803

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 2
Cardiac arrhythmia
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA034729

rs_760408746

6 SubmittersRCV000693620 RCV001160951 RCV001841862 RCV005092011 RCV005582396

NM_005751.5(AKAP9):c.4594A>G (p.Asn1532Asp)

SNV
Germline

Chr7:92038674

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336594

rs_368059326

2 SubmittersRCV000692112 RCV002334300

NM_005751.5(AKAP9):c.5668A>T (p.Thr1890Ser)

SNV
Germline

Chr7:92061326

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336890

rs_201558875

2 SubmittersRCV000701296 RCV005572366

NM_001148.6(ANK2):c.7546A>G (p.Ser2516Gly)

SNV
Germline

Chr4:113356164

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051610

rs_771826064

3 SubmittersRCV000696096 RCV001775966 RCV002388264

NM_000238.4(KCNH2):c.1755G>C (p.Trp585Cys)

SNV
Germline

Chr7:150951638

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369858128

rs_199473430

1 SubmittersRCV000705565

NM_174934.4(SCN4B):c.520A>G (p.Ile174Val)

SNV
Germline

Chr11:118141280

Conflicting classifications of pathogenicity

Long QT syndrome 10
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6300175

rs_377730779

3 SubmittersRCV000696092 RCV002334320

NM_005751.5(AKAP9):c.6004A>G (p.Met2002Val)

SNV
Germline

Chr7:92065257

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 11
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368132366

rs_1463067477

3 SubmittersRCV000685378 RCV002507186 RCV005572363

NM_000890.5(KCNJ5):c.536A>G (p.Asn179Ser)

SNV
Germline

Chr11:128911809

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6357893

rs_147070381

3 SubmittersRCV000704864 RCV002343558 RCV002469269

NM_000218.3(KCNQ1):c.684-2A>C

SNV
Germline

Chr11:2572011

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379130891

rs_1564820729

1 SubmittersRCV000694551

NM_000218.3(KCNQ1):c.922-2A>G

SNV
Germline

Chr11:2583433

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379132948

rs_397508133

1 SubmittersRCV000706798

NM_000218.3(KCNQ1):c.1138A>T (p.Arg380Trp)

SNV
Germline

Chr11:2587579

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379134655

rs_199472770

1 SubmittersRCV000704706

NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile)

SNV
Germline

Chr12:2115239

Conflicting classifications of pathogenicity

Long QT syndrome
Brugada syndrome 3
Timothy syndrome
Long QT syndrome 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6388381

rs_769703001

3 SubmittersRCV000701466 RCV002477615 RCV002360798

NM_000218.3(KCNQ1):c.605-1G>C

SNV
Germline

Chr11:2571324

Pathogenic/Likely pathogenic

Long QT syndrome
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA379130370

rs_1564820372

2 SubmittersRCV000695220 RCV004796281

NM_000218.3(KCNQ1):c.1702G>C (p.Gly568Arg)

SNV
Germline

Chr11:2777002

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379139292

rs_199472807

1 SubmittersRCV000691158

NM_000719.7(CACNA1C):c.1126G>A (p.Val376Ile)

SNV
Germline

Chr12:2504854

Conflicting classifications of pathogenicity

Long QT syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6388653

rs_1131653

3 SubmittersRCV000696793 RCV001256729 RCV002442478

NM_005751.5(AKAP9):c.509A>T (p.Glu170Val)

SNV
Germline

Chr7:91992988

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 11
Cardiovascular phenotype
Brugada syndrome

Criteria Provided
Conflicting Classifications

CA4335834

rs_539375675

4 SubmittersRCV000692770 RCV003224376 RCV004025130 RCV005357923

NM_005751.5(AKAP9):c.7886T>C (p.Val2629Ala)

SNV
Germline

Chr7:92080019

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 11
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337360

rs_199909093

3 SubmittersRCV000695679 RCV002493203 RCV002406598

NM_000719.7(CACNA1C):c.447A>G (p.Glu149=)

SNV
Germline

Chr12:2120400

Conflicting classifications of pathogenicity

Long QT syndrome
CACNA1C-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA478005442

rs_1297869395

3 SubmittersRCV000685654 RCV003411592 RCV003303108

NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met)

SNV
Germline

Chr12:2550029

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 8
Timothy syndrome

Criteria Provided
Conflicting Classifications

CA6388742

rs_376530064

4 SubmittersRCV000705038 RCV001811454 RCV002388338 RCV005863257

NM_000719.7(CACNA1C):c.2486A>G (p.Asn829Ser)

SNV
Germline

Chr12:2585860

Conflicting classifications of pathogenicity

Long QT syndrome
Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6388988

rs_773015884

3 SubmittersRCV000691780 RCV002265861 RCV002424628

NM_000719.7(CACNA1C):c.4336C>A (p.Pro1446Thr)

SNV
Germline

Chr12:2664928

Conflicting classifications of pathogenicity

Long QT syndrome
Amyloidosis

Criteria Provided
Conflicting Classifications

CA383375932

rs_758143691

2 SubmittersRCV000689099 RCV000852664

NM_000719.7(CACNA1C):c.5648C>T (p.Pro1883Leu)

SNV
Germline

Chr12:2685810

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389915

rs_578233776

2 SubmittersRCV000705200 RCV004026683

NM_000719.7(CACNA1C):c.6235G>A (p.Asp2079Asn)

SNV
Germline

Chr12:2691017

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6390110

rs_759579854

2 SubmittersRCV000704339 RCV004601258

NM_000218.3(KCNQ1):c.1733-7C>G

SNV
Germline

Chr11:2777969

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA032527

rs_367568223

4 SubmittersRCV000697096 RCV001571380 RCV001841864

NM_000719.7(CACNA1C):c.2824A>G (p.Thr942Ala)

SNV
Germline

Chr12:2597260

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 8
Brugada syndrome 3
Timothy syndrome

Criteria Provided
Conflicting Classifications

CA6389060

rs_369884505

3 SubmittersRCV000694281 RCV002440468 RCV002493190

NM_000719.7(CACNA1C):c.5225C>T (p.Ser1742Leu)

SNV
Germline

Chr12:2679577

Conflicting classifications of pathogenicity

Long QT syndrome
Timothy syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389734

rs_375571032

3 SubmittersRCV000700725 RCV001291697 RCV002343527

NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser)

SNV
Germline

Chr12:2688663

Conflicting classifications of pathogenicity

Long QT syndrome
Brugada syndrome 3
Timothy syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6390046

rs_552478740

4 SubmittersRCV000697996 RCV000763838 RCV003303162 RCV004808530

NM_000238.4(KCNH2):c.245T>C (p.Ile82Thr)

SNV
Germline

Chr7:150974773

Conflicting classifications of pathogenicity

Long QT syndrome 2
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA369865484

rs_1563189895

2 SubmittersRCV000709728 RCV002532901

NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter)

SNV
Germline

Chr3:38614063

Conflicting classifications of pathogenicity

Brugada syndrome 1
Dilated cardiomyopathy 1E
Atrial fibrillation, familial, 10
Long QT syndrome 3
Cardiac arrhythmia
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA72943303

rs_765669597

3 SubmittersRCV000714737 RCV000714739 RCV000714738 RCV000714740 RCV001841876 RCV003486923

NM_003098.3(SNTA1):c.770C>T (p.Ala257Val)

SNV
Germline

Chr20:33412714

Conflicting classifications of pathogenicity

Long QT syndrome 12
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA9817150

rs_56157422

3 SubmittersRCV000755690 RCV002397523 RCV005092170

NM_005751.5(AKAP9):c.460C>A (p.Pro154Thr)

SNV
Germline

Chr7:91992939

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4335821

rs_746612786

3 SubmittersRCV000755800 RCV001215053 RCV005328383

NM_005751.5(AKAP9):c.1859C>A (p.Ala620Asp)

SNV
Germline

Chr7:92001776

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336064

rs_774013935

3 SubmittersRCV000756980 RCV001215052 RCV005572377

NM_005751.5(AKAP9):c.8585A>G (p.Gln2862Arg)

SNV
Germline

Chr7:92083594

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337502

rs_752618658

3 SubmittersRCV000756984 RCV001324827 RCV004993991

NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter)

SNV
Germline

Chr7:150951063

Pathogenic/Likely pathogenic

Condition: not provided
Cardiac arrhythmia
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA369857673

rs_749211387

3 SubmittersRCV000760518 RCV002282358 RCV002533838

NM_000238.4(KCNH2):c.1348C>T (p.Gln450Ter)

SNV
Germline

Chr7:150952634

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA369859937

rs_1563160541

3 SubmittersRCV000760478 RCV001390278

NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter)

SNV
Germline

Chr11:2585305

Pathogenic

Condition: not provided
Long QT syndrome
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA379133980

rs_1564825414

5 SubmittersRCV000760553 RCV000811148 RCV003319418 RCV005652438

NM_000219.6(KCNE1):c.268A>T (p.Lys90Ter)

SNV
Germline

Chr21:34449367

Likely pathogenic

Condition: not provided
Long QT syndrome 5

Criteria Provided
Single Submitter

CA410198139

rs_1568835906

2 SubmittersRCV000760772 RCV004777859

NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=)

SNV
Germline

Chr3:38566451

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA062289

rs_371610895

8 SubmittersRCV000868866 RCV001144760 RCV001146723 RCV001146724 RCV001144758 RCV001144757 RCV001144759 RCV001841921 RCV002360883 RCV005405308

NM_000335.5(SCN5A):c.2422C>T (p.Arg808Cys)

SNV
Germline

Chr3:38587414

Conflicting classifications of pathogenicity

Cardiac arrhythmia
Brugada syndrome 1
Condition: not provided
Brugada syndrome (shorter-than-normal QT interval)
Dilated cardiomyopathy 1E
Long QT syndrome 3
Brugada syndrome 1

Criteria Provided
Conflicting Classifications

CA060381

rs_749864465

6 SubmittersRCV001841888 RCV003322615 RCV003542312 RCV006268997 RCV006605301

NM_000238.4(KCNH2):c.1263G>A (p.Thr421=)

SNV
Germline

Chr7:150952719

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA169078644

rs_368109121

5 SubmittersRCV001037134 RCV001841895 RCV005367542 RCV004997281

NM_000238.4(KCNH2):c.1035C>T (p.Gly345=)

SNV
Germline

Chr7:150957384

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 2
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA026690

rs_576125279

7 SubmittersRCV000810782 RCV001162644 RCV001712751 RCV001841972 RCV003307413

NM_000218.3(KCNQ1):c.603C>T (p.Ile201=)

SNV
Germline

Chr11:2570753

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA038681

rs_146190510

4 SubmittersRCV001246279 RCV001841917 RCV002352283

NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val)

SNV
Germline

Chr11:2585288

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation

Criteria Provided
Conflicting Classifications

CA027096

rs_775362401

7 SubmittersRCV001203576 RCV001841958 RCV001574714 RCV002440609 RCV002501006 RCV004773133

NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn)

SNV
Germline

Chr11:2588836

Conflicting classifications of pathogenicity

Long QT syndrome
Atrial fibrillation, familial, 3
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA028983

rs_747704276

6 SubmittersRCV001071913 RCV001105968 RCV001105970 RCV001105971 RCV001105969 RCV001772029 RCV001841898 RCV002386338

NM_000218.3(KCNQ1):c.1128+6G>A

SNV
Germline

Chr11:2585313

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA216330207

rs_558595162

2 SubmittersRCV001368836 RCV001841944

NM_001148.6(ANK2):c.4912A>G (p.Asn1638Asp)

SNV
Germline

Chr4:113353530

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA103811640

rs_748573794

3 SubmittersRCV000779703 RCV000806508 RCV002343637

NM_001148.6(ANK2):c.5426C>T (p.Ala1809Val)

SNV
Germline

Chr4:113354044

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051221

rs_531261130

3 SubmittersRCV000780840 RCV000823674 RCV002343638

NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg)

SNV
Germline

Chr12:2593252

Pathogenic

Long QT syndrome 8
Long QT syndrome

Criteria Provided
Single Submitter

CA6389012

rs_750835733

2 SubmittersRCV000782177 RCV001856203

NM_000719.7(CACNA1C):c.1745C>A (p.Ala582Asp)

SNV
Germline

Chr12:2567644

Pathogenic

Long QT syndrome 8

No Assertion Criteria Provided

CA383368914

rs_1568469857

1 SubmittersRCV000782181

NM_000719.7(CACNA1C):c.4425C>G (p.Ile1475Met)

SNV
Germline

Chr12:2665607

Pathogenic

Long QT syndrome 8

No Assertion Criteria Provided

CA383376150

rs_1569139160

1 SubmittersRCV000782182

NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys)

SNV
Unknown

Chr3:38555735

Likely pathogenic

Long QT syndrome 3

Criteria Provided
Single Submitter

CA352144349

rs_199473259

1 SubmittersRCV000790457

NM_000218.3(KCNQ1):c.1709C>T (p.Pro570Leu)

SNV
Germline

Chr11:2777009

Conflicting classifications of pathogenicity

Long QT syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA379139305

rs_1590082242

2 SubmittersRCV000790442 RCV004696991

NM_000218.3(KCNQ1):c.1685+2T>C

SNV
Germline

Chr11:2776056

Pathogenic

Long QT syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

CA379139258

rs_1590081467

2 SubmittersRCV000790441 RCV001249429

NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr)

SNV
Germline

Chr2:47161858

Pathogenic/Likely pathogenic

Long QT syndrome 1
Long QT syndrome 15

Criteria Provided
Multiple Submitters
No Conflicts

CA346719304

rs_1573214371

2 SubmittersRCV002234248 RCV005231341

NM_001148.6(ANK2):c.2869G>A (p.Val957Met)

SNV
Germline

Chr4:113318589

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3050693

rs_756861229

5 SubmittersRCV000823471 RCV002487855 RCV003307562 RCV003987714 RCV005411582

NM_001148.6(ANK2):c.4687A>C (p.Asn1563His)

SNV
Germline

Chr4:113353305

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA357915350

rs_1476737595

3 SubmittersRCV000792296 RCV001759491 RCV002334468

NM_001148.6(ANK2):c.5515A>C (p.Thr1839Pro)

SNV
Germline

Chr4:113354133

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051246

rs_763795429

6 SubmittersRCV000796008 RCV002345754 RCV002249506 RCV002477812

NM_001148.6(ANK2):c.6842C>T (p.Thr2281Met)

SNV
Germline

Chr4:113355460

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051483

rs_757584252

4 SubmittersRCV000801794 RCV001148376 RCV002360953 RCV005092406

NM_001148.6(ANK2):c.7061G>A (p.Arg2354His)

SNV
Germline

Chr4:113355679

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051522

rs_139616911

2 SubmittersRCV000797159 RCV004027587

NM_001148.6(ANK2):c.7106T>G (p.Val2369Gly)

SNV
Germline

Chr4:113355724

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA103814919

rs_28377576

4 SubmittersRCV000816310 RCV001759587 RCV002363133 RCV002501122

NM_001148.6(ANK2):c.7148C>T (p.Pro2383Leu)

SNV
Germline

Chr4:113355766

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
not specified

Criteria Provided
Conflicting Classifications

CA3051543

rs_35960628

6 SubmittersRCV000795810 RCV002225731 RCV002360923 RCV002477809 RCV003489873

NM_001148.6(ANK2):c.8659C>T (p.Pro2887Ser)

SNV
Germline

Chr4:113357277

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA103816263

rs_1050108506

3 SubmittersRCV000819996 RCV002442746 RCV002487828

NM_001148.6(ANK2):c.9116A>G (p.Asp3039Gly)

SNV
Germline

Chr4:113357734

Conflicting classifications of pathogenicity

Long QT syndrome
Sudden cardiac arrest
See cases
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051873

rs_140539843

5 SubmittersRCV000819773 RCV000852555 RCV001784450 RCV002372334 RCV005411580

NM_001148.6(ANK2):c.10646G>A (p.Arg3549His)

SNV
Germline

Chr4:113359264

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA3052097

rs_768351547

3 SubmittersRCV000813554 RCV002406840 RCV003987711

NM_000238.4(KCNH2):c.2792C>T (p.Pro931Leu)

SNV
Germline

Chr7:150947779

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA034864

rs_749759697

5 SubmittersRCV000810886 RCV001841989 RCV002440749 RCV003330962

NM_000238.4(KCNH2):c.2600T>C (p.Met867Thr)

SNV
Germline

Chr7:150948536

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA033403

rs_752020408

4 SubmittersRCV000795053 RCV001841976 RCV002424813

NM_000238.4(KCNH2):c.1655T>A (p.Leu552Ter)

SNV
Germline

Chr7:150951738

Pathogenic

Long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA369858923

rs_199472918

2 SubmittersRCV000802739 RCV001551636

NM_000238.4(KCNH2):c.1638C>T (p.Gly546=)

SNV
Germline

Chr7:150951755

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA029038

rs_759245832

3 SubmittersRCV000813607 RCV001841991

NM_000238.4(KCNH2):c.1128+1860C>T

SNV
Germline

Chr7:150955431

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA027010

rs_767264288

5 SubmittersRCV000818387 RCV001567886 RCV001841999

NM_005751.5(AKAP9):c.547G>A (p.Val183Ile)

SNV
Germline

Chr7:91993026

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 11
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4335838

rs_750921440

3 SubmittersRCV000803025 RCV002487705 RCV004994020

NM_005751.5(AKAP9):c.2324C>T (p.Ala775Val)

SNV
Germline

Chr7:92002241

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336116

rs_751926047

2 SubmittersRCV000807535 RCV002442701

NM_005751.5(AKAP9):c.3172A>G (p.Asn1058Asp)

SNV
Germline

Chr7:92003089

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA161908822

rs_1029311669

2 SubmittersRCV000804011 RCV005338370

NM_005751.5(AKAP9):c.3350G>A (p.Arg1117His)

SNV
Germline

Chr7:92012460

Conflicting classifications of pathogenicity

Long QT syndrome
not specified
Cardiovascular phenotype
AKAP9-related disorder

Criteria Provided
Conflicting Classifications

CA4336291

rs_546600149

4 SubmittersRCV000806288 RCV001328419 RCV002325571 RCV003411779

NM_005751.5(AKAP9):c.4625A>G (p.Lys1542Arg)

SNV
Germline

Chr7:92038705

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336598

rs_141987389

2 SubmittersRCV000814309 RCV002336684

NM_005751.5(AKAP9):c.4994A>T (p.Gln1665Leu)

SNV
Germline

Chr7:92042122

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336710

rs_763089587

2 SubmittersRCV000796884 RCV003362944

NM_005751.5(AKAP9):c.5737C>G (p.Leu1913Val)

SNV
Germline

Chr7:92061395

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336900

rs_769085707

2 SubmittersRCV000799263 RCV003166175

NM_005751.5(AKAP9):c.6302A>C (p.Gln2101Pro)

SNV
Germline

Chr7:92066518

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337034

rs_201545032

2 SubmittersRCV000811271 RCV005338380

NM_005751.5(AKAP9):c.6518G>A (p.Arg2173Gln)

SNV
Germline

Chr7:92070915

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4337108

rs_749345540

4 SubmittersRCV000797797 RCV002360934 RCV002487672

NM_005751.5(AKAP9):c.6565G>A (p.Val2189Ile)

SNV
Germline

Chr7:92070962

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA161918347

rs_536744826

2 SubmittersRCV000808438 RCV005851612

NM_005751.5(AKAP9):c.8957C>T (p.Ala2986Val)

SNV
Germline

Chr7:92085619

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337620

rs_763275190

2 SubmittersRCV000803159 RCV002442673

NM_005751.5(AKAP9):c.9106G>A (p.Glu3036Lys)

SNV
Germline

Chr7:92086309

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA161888844

rs_746297415

2 SubmittersRCV000793821 RCV006342553

NM_005751.5(AKAP9):c.9115A>G (p.Ser3039Gly)

SNV
Germline

Chr7:92086318

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11
not specified

Criteria Provided
Conflicting Classifications

CA4337662

rs_772348877

4 SubmittersRCV000804784 RCV002370138 RCV002477848 RCV006459927

NM_005751.5(AKAP9):c.9943A>G (p.Thr3315Ala)

SNV
Germline

Chr7:92096902

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4337872

rs_747162821

4 SubmittersRCV000818267 RCV003307541 RCV003483741

NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter)

SNV
Germline

Chr11:2445149

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379115908

rs_1589884185

1 SubmittersRCV000821537

NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu)

SNV
Germline

Chr11:2572055

Likely pathogenic

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA379130972

rs_1589957756

3 SubmittersRCV000823765 RCV001731948 RCV003279119

NM_000218.3(KCNQ1):c.937A>T (p.Ile313Phe)

SNV
Germline

Chr11:2583450

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA379132972

rs_1589965249

3 SubmittersRCV000822437 RCV003222147 RCV005582456

NM_000218.3(KCNQ1):c.973G>C (p.Gly325Arg)

SNV
Germline

Chr11:2583486

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379133027

rs_199472756

1 SubmittersRCV000817822

NM_000719.7(CACNA1C):c.1429G>A (p.Glu477Lys)

SNV
Germline

Chr12:2549981

Conflicting classifications of pathogenicity

Long QT syndrome
Brugada syndrome 3
Timothy syndrome
Long QT syndrome 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6388733

rs_762162937

3 SubmittersRCV000801192 RCV002487695 RCV005306153

NM_000719.7(CACNA1C):c.2395T>A (p.Ser799Thr)

SNV
Germline

Chr12:2585431

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6388960

rs_749753740

3 SubmittersRCV000823658 RCV003353065 RCV006279257

NM_000719.7(CACNA1C):c.2837T>C (p.Ile946Thr)

SNV
Germline

Chr12:2597273

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6389061

rs_747728381

3 SubmittersRCV000798495 RCV004601280 RCV004721611

NM_000719.7(CACNA1C):c.5407C>T (p.Arg1803Trp)

SNV
Germline

Chr12:2679759

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6389775

rs_113157354

3 SubmittersRCV000798366 RCV002345772 RCV004693278

NM_000719.7(CACNA1C):c.5423C>T (p.Ala1808Val)

SNV
Germline

Chr12:2679775

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389781

rs_745997744

3 SubmittersRCV000803302 RCV001532202 RCV002345797

NM_006888.6(CALM1):c.394G>A (p.Asp132Asn)

SNV
Germline

Chr14:90404487

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 4
Long QT syndrome 14

Criteria Provided
Single Submitter

CA390690352

rs_1595102640

1 SubmittersRCV000792817

NM_000219.6(KCNE1):c.199C>G (p.Arg67Gly)

SNV
Germline

Chr21:34449436

Conflicting classifications of pathogenicity

Long QT syndrome
Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5
Long QT syndrome 5
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA410198283

rs_199473645

5 SubmittersRCV000798265 RCV002495057 RCV004777873 RCV004689888 RCV004994015

NM_000238.4(KCNH2):c.1128+1884G>A

SNV
Germline

Chr7:150955407

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA027049

rs_765679790

4 SubmittersRCV000810626 RCV001841988 RCV002473147

NM_000218.3(KCNQ1):c.1032+5G>T

SNV
Germline

Chr11:2583550

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA915947937

rs_397508071

1 SubmittersRCV000794870

NM_000719.7(CACNA1C):c.5091+3G>A

SNV
Germline

Chr12:2677870

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
CACNA1C-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389687

rs_372915169

4 SubmittersRCV001675964 RCV000824511 RCV003918283 RCV002336729

NM_000218.3(KCNQ1):c.683+1G>A

SNV
Germline

Chr11:2571404

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379130740

rs_1589957233

3 SubmittersRCV000806826 RCV000825588 RCV002251520

NM_005751.5(AKAP9):c.11305G>A (p.Val3769Ile)

SNV
Germline

Chr7:92102801

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4338143

rs_537499946

2 SubmittersRCV002319935 RCV005092460

NM_000218.3(KCNQ1):c.1591-1G>A

SNV
Germline

Chr11:2775959

Pathogenic/Likely pathogenic

Congenital long QT syndrome
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA379139054

rs_1590081328

2 SubmittersRCV000825532 RCV001388701

NM_000218.3(KCNQ1):c.1685+2T>G

SNV
Germline

Chr11:2776056

Likely pathogenic

Congenital long QT syndrome
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA379139256

rs_1590081467

2 SubmittersRCV000825590 RCV004796329

NM_001148.6(ANK2):c.4122+4C>A

SNV
Germline

Chr4:113341920

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA554146164

rs_756374268

3 SubmittersRCV000827432 RCV002319939 RCV005056613

NM_000238.4(KCNH2):c.2398+10G>A

SNV
Germline

Chr7:150950158

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA031948

rs_750281789

2 SubmittersRCV000828694 RCV003768580

NM_000218.3(KCNQ1):c.477+4C>T

SNV
Germline

Chr11:2528022

Conflicting classifications of pathogenicity

Condition: not provided
Cardiac arrhythmia
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA037510

rs_763599970

4 SubmittersRCV000826344 RCV001842009 RCV002536083

NM_005751.5(AKAP9):c.4765G>A (p.Asp1589Asn)

SNV
Germline

Chr7:92040746

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336656

rs_371957004

3 SubmittersRCV000845339 RCV003307576 RCV006464516

NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn)

SNV
Germline

Chr11:2445471

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379117796

rs_794728578

1 SubmittersRCV000845367

NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro)

SNV
Germline

Chr11:2528008

Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA379122086

rs_1589931156

2 SubmittersRCV000845331 RCV003318389

NM_001148.6(ANK2):c.9842A>G (p.Gln3281Arg)

SNV
Germline

Chr4:113358460

Conflicting classifications of pathogenicity

Hypertrophic cardiomyopathy
Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA357939122

rs_1306812632

4 SubmittersRCV000852557 RCV001338530 RCV001766768 RCV002381906

NM_005751.5(AKAP9):c.5036G>A (p.Arg1679His)

SNV
Germline

Chr7:92042164

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4336713

rs_759646439

4 SubmittersRCV000852581 RCV002345937 RCV002478947

NM_005751.5(AKAP9):c.6808G>A (p.Ala2270Thr)

SNV
Germline

Chr7:92077738

Conflicting classifications of pathogenicity

Cardiomyopathy
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA161884554

rs_1042630361

3 SubmittersRCV000853019 RCV001869301 RCV002363202

NM_032578.4(MYPN):c.281C>G (p.Thr94Ser)

SNV
Germline

Chr10:68121719

Conflicting classifications of pathogenicity

Long QT syndrome
Dilated cardiomyopathy 1KK
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5522249

rs_377389861

3 SubmittersRCV000852607 RCV001222605 RCV002434051

NM_000335.5(SCN5A):c.5354T>C (p.Leu1785Pro)

SNV
Germline

Chr3:38551015

Conflicting classifications of pathogenicity

Long QT syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA352141314

rs_199473315

2 SubmittersRCV000853606 RCV005092535

NM_000238.4(KCNH2):c.1557+2T>C

SNV
Germline

Chr7:150952423

Pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369859371

rs_1584855956

1 SubmittersRCV000857230

NM_001148.6(ANK2):c.921A>G (p.Ala307=)

SNV
Germline

Chr4:113249793

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA440832631

rs_1586090494

3 SubmittersRCV001147765 RCV001432669 RCV002372397

NM_000238.4(KCNH2):c.1713C>T (p.Ile571=)

SNV
Germline

Chr7:150951680

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
Short QT syndrome type 1
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA029273

rs_768652751

5 SubmittersRCV000863384 RCV001842025 RCV002399872 RCV003224480

NM_000238.4(KCNH2):c.504C>G (p.Pro168=)

SNV
Germline

Chr7:150958471

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 2
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA169081495

rs_547228640

4 SubmittersRCV000862028 RCV001164708 RCV001575800 RCV002336756

NM_000238.4(KCNH2):c.1128+1869C>T

SNV
Germline

Chr7:150955422

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA027036

rs_62492438

3 SubmittersRCV000861582 RCV001842020 RCV002279567

NM_001148.6(ANK2):c.7728C>T (p.Asn2576=)

SNV
Germline

Chr4:113356346

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051645

rs_374771370

3 SubmittersRCV000865821 RCV001145603 RCV002399890

NM_001148.6(ANK2):c.8916A>G (p.Val2972=)

SNV
Germline

Chr4:113357534

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA103817069

rs_897280623

2 SubmittersRCV001150058 RCV001440747

NM_001148.6(ANK2):c.9822C>T (p.Pro3274=)

SNV
Germline

Chr4:113358440

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051986

rs_144939151

4 SubmittersRCV000865914 RCV001145742 RCV001585816 RCV002372423

NM_000238.4(KCNH2):c.864C>T (p.Ile288=)

SNV
Germline

Chr7:150958111

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA072164

rs_915031143

3 SubmittersRCV000870210 RCV001162647 RCV002372458

NM_000890.5(KCNJ5):c.1133A>C (p.Gln378Pro)

SNV
Germline

Chr11:128916604

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA383235990

rs_544093099

2 SubmittersRCV002442845 RCV002539046

NM_000719.7(CACNA1C):c.408C>T (p.Ala136=)

SNV
Germline

Chr12:2120361

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6388446

rs_769295096

4 SubmittersRCV000870002 RCV001089094 RCV001192662 RCV002320009

NM_000238.4(KCNH2):c.1128+1830C>T

SNV
Germline

Chr7:150955461

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA026970

rs_778819756

3 SubmittersRCV000869060 RCV001842537 RCV003229870

NM_000335.5(SCN5A):c.5847C>T (p.Tyr1949=)

SNV
Germline

Chr3:38550522

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064901

rs_367778922

5 SubmittersRCV001150129 RCV001150130 RCV001150132 RCV001150131 RCV001150133 RCV001143994 RCV001842551 RCV002354688 RCV003768682

NM_000218.3(KCNQ1):c.684-4G>A

SNV
Germline

Chr11:2572009

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA040007

rs_750965939

4 SubmittersRCV001450159 RCV001842543 RCV003169176 RCV006453429

NM_001148.6(ANK2):c.385-6C>T

SNV
Germline

Chr4:113232155

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3050027

rs_199939848

2 SubmittersRCV000893921 RCV001146860

NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=)

SNV
Germline

Chr11:2847802

Conflicting classifications of pathogenicity

Long QT syndrome
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA033288

rs_774101297

5 SubmittersRCV000926516 RCV001105017 RCV001105018 RCV001105019 RCV001105016 RCV001842570 RCV004029517

NM_000238.4(KCNH2):c.3051C>T (p.Ala1017=)

SNV
Germline

Chr7:150947429

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA169072031

rs_75488587

3 SubmittersRCV000930924 RCV005401670

NM_000218.3(KCNQ1):c.1089C>T (p.His363=)

SNV
Germline

Chr11:2585268

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA472038501

rs_1589967006

3 SubmittersRCV001400212 RCV002445063

NM_000218.3(KCNQ1):c.1611T>C (p.Asp537=)

SNV
Germline

Chr11:2775980

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA472464447

rs_1590081349

4 SubmittersRCV001490591 RCV004629388 RCV006545708

NM_000719.7(CACNA1C):c.3903C>T (p.Thr1301=)

SNV
Germline

Chr12:2634371

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA477910632

rs_1489840314

2 SubmittersRCV004029643 RCV006464697

NM_207396.3(RNF207):c.1109+1G>A

SNV
Germline

Chr1:6211119

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA17171376

rs_552508881

1 SubmittersRCV000991411

NM_001148.6(ANK2):c.1020C>T (p.Ala340=)

SNV
Germline

Chr4:113255764

Conflicting classifications of pathogenicity

Condition: not provided
Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3050176

rs_757576841

4 SubmittersRCV000998262 RCV001147766 RCV001478083 RCV002382233

NM_001148.6(ANK2):c.2754C>T (p.Asp918=)

SNV
Germline

Chr4:113317767

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA440842026

rs_1445606491

2 SubmittersRCV000998266 RCV002068736

NM_001148.6(ANK2):c.5588C>T (p.Thr1863Met)

SNV
Germline

Chr4:113354206

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA3051259

rs_536962908

5 SubmittersRCV001041999 RCV004588449 RCV005367661 RCV005912261

NM_000238.4(KCNH2):c.3357G>A (p.Glu1119=)

SNV
Germline

Chr7:150945488

Conflicting classifications of pathogenicity

Condition: not provided
Cardiac arrhythmia
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA458644598

rs_1389024546

4 SubmittersRCV000998941 RCV001842581 RCV002068740

NM_005751.5(AKAP9):c.6330+3A>G

SNV
Germline

Chr7:92066549

Conflicting classifications of pathogenicity

Long QT syndrome 11
Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337037

rs_771419309

4 SubmittersRCV001000133 RCV001315729 RCV001615101 RCV002363530

NM_005751.5(AKAP9):c.8468A>G (p.Gln2823Arg)

SNV
Germline

Chr7:92083477

Conflicting classifications of pathogenicity

Long QT syndrome 11
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337485

rs_376528503

3 SubmittersRCV001000134 RCV001858904 RCV002445156

NM_174934.4(SCN4B):c.62-16G>A

SNV
Germline

Chr11:118145245

Conflicting classifications of pathogenicity

not specified
Long QT syndrome 10

Criteria Provided
Conflicting Classifications

CA6300299

rs_772762943

2 SubmittersRCV001002540 RCV002549183

NM_000218.3(KCNQ1):c.1251+1G>A

SNV
Germline

Chr11:2587693

Pathogenic

Long QT syndrome 1
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA379134883

rs_1589968661

2 SubmittersRCV001003476 RCV002549213

NM_005184.4(CALM3):c.389A>G (p.Asp130Gly)

SNV
Unknown

Chr19:46608949

Pathogenic

Long QT syndrome 16

No Assertion Criteria Provided

CA406473542

rs_1599759554

1 SubmittersRCV001003482

NM_005184.4(CALM3):c.421G>A (p.Glu141Lys)

SNV
Germline

Chr19:46608981

Pathogenic

Long QT syndrome 16
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA406473767

rs_1599759598

3 SubmittersRCV001003484 RCV001860538

NM_001743.6(CALM2):c.389A>G (p.Asp130Gly)

SNV
Germline

Chr2:47161755

Pathogenic

Long QT syndrome 15
Long QT syndrome 1

Criteria Provided
Single Submitter

CA346719064

rs_1573214163

2 SubmittersRCV001003503 RCV002236070

NM_033337.3(CAV3):c.79C>T (p.Arg27Ter)

SNV
Germline

Chr3:8733955

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA351661480

rs_199476324

1 SubmittersRCV001050053

NM_001148.6(ANK2):c.4811G>A (p.Arg1604Lys)

SNV
Germline

Chr4:113353429

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051145

rs_776426910

4 SubmittersRCV001045573 RCV001148271 RCV002339228 RCV003883539

NM_001148.6(ANK2):c.7120G>T (p.Ala2374Ser)

SNV
Germline

Chr4:113355738

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051535

rs_763277342

3 SubmittersRCV001035207 RCV002372741 RCV002497353

NM_001148.6(ANK2):c.7148C>G (p.Pro2383Arg)

SNV
Germline

Chr4:113355766

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA357929617

rs_35960628

2 SubmittersRCV001047744 RCV002365687

NM_001148.6(ANK2):c.7412G>A (p.Ser2471Asn)

SNV
Germline

Chr4:113356030

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051583

rs_375139170

5 SubmittersRCV001056431 RCV001811634 RCV002379569 RCV002482013

NM_001148.6(ANK2):c.8098G>A (p.Asp2700Asn)

SNV
Germline

Chr4:113356716

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA357933027

rs_1275616940

2 SubmittersRCV001071672 RCV005367713

NM_001148.6(ANK2):c.8630C>T (p.Thr2877Ile)

SNV
Germline

Chr4:113357248

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051797

rs_763136492

2 SubmittersRCV001063653 RCV004994231

NM_001148.6(ANK2):c.8645C>T (p.Thr2882Ile)

SNV
Germline

Chr4:113357263

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051803

rs_56222626

2 SubmittersRCV001052179 RCV002374910

NM_001148.6(ANK2):c.9520A>G (p.Thr3174Ala)

SNV
Germline

Chr4:113358138

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051929

rs_560480810

2 SubmittersRCV001038366 RCV004994193

NM_001148.6(ANK2):c.11060G>C (p.Cys3687Ser)

SNV
Germline

Chr4:113367593

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3052226

rs_143803967

4 SubmittersRCV001071753 RCV002429745 RCV002482146 RCV005051858

NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp)

SNV
Germline

Chr6:7580925

Conflicting classifications of pathogenicity

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Criteria Provided
Conflicting Classifications

CA042618

rs_755868373

7 SubmittersRCV001042043 RCV001182918 RCV003314662 RCV003160282 RCV003318390 RCV004004744

NM_000238.4(KCNH2):c.1469C>T (p.Ala490Val)

SNV
Germline

Chr7:150952513

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA369859694

rs_1801214475

3 SubmittersRCV001068986 RCV001258356 RCV002393332

NM_000238.4(KCNH2):c.1052C>T (p.Ser351Leu)

SNV
Germline

Chr7:150957367

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 2
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA026727

rs_759134380

3 SubmittersRCV001071146 RCV001248791 RCV003591840

NM_000238.4(KCNH2):c.211G>T (p.Gly71Trp)

SNV
Germline

Chr7:150974807

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369865595

rs_199473420

1 SubmittersRCV001058299

NM_000238.4(KCNH2):c.198C>A (p.Cys66Ter)

SNV
Germline

Chr7:150974820

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369865646

rs_1801935667

1 SubmittersRCV001070384

NM_005751.5(AKAP9):c.2930A>G (p.Asn977Ser)

SNV
Germline

Chr7:92002847

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA4336218

rs_369206894

3 SubmittersRCV001041155 RCV002436551 RCV002469329

NM_005751.5(AKAP9):c.7980A>C (p.Lys2660Asn)

SNV
Germline

Chr7:92080113

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA4337370

rs_371461279

3 SubmittersRCV001048328 RCV002409415 RCV003490029

NM_005751.5(AKAP9):c.7997C>T (p.Pro2666Leu)

SNV
Germline

Chr7:92080130

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337373

rs_756905236

2 SubmittersRCV001040494 RCV003307819

NM_000890.5(KCNJ5):c.1220A>G (p.Lys407Arg)

SNV
Germline

Chr11:128916691

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 13
Familial hyperaldosteronism type III
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6358023

rs_745968243

3 SubmittersRCV001045755 RCV002481920 RCV004629419

NM_000218.3(KCNQ1):c.560T>G (p.Leu187Arg)

SNV
Germline

Chr11:2570710

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

CA379129943

rs_199473399

2 SubmittersRCV001046555 RCV004998600

NM_000218.3(KCNQ1):c.743G>A (p.Trp248Ter)

SNV
Germline

Chr11:2572072

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379131003

rs_1848344878

1 SubmittersRCV001061339

NM_000218.3(KCNQ1):c.778C>T (p.Gln260Ter)

SNV
Germline

Chr11:2572107

Pathogenic

Long QT syndrome
KCNQ1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA379131109

rs_1848346228

2 SubmittersRCV001044668 RCV002298855

NM_000218.3(KCNQ1):c.1069C>T (p.Gln357Ter)

SNV
Germline

Chr11:2585248

Pathogenic/Likely pathogenic

Long QT syndrome
KCNQ1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA379133747

rs_1554894743

3 SubmittersRCV001044364 RCV003336285

NM_000719.7(CACNA1C):c.3568G>T (p.Val1190Leu)

SNV
Germline

Chr12:2610550

Conflicting classifications of pathogenicity

Long QT syndrome
Cerebral palsy
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA383376542

rs_1048241141

3 SubmittersRCV001037547 RCV001796345 RCV004761887

NM_000719.7(CACNA1C):c.4349G>A (p.Ser1450Asn)

SNV
Germline

Chr12:2664941

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA231598050

rs_1009822245

2 SubmittersRCV001056207 RCV002327321

NM_000719.7(CACNA1C):c.5215G>A (p.Asp1739Asn)

SNV
Germline

Chr12:2679567

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389733

rs_769917254

2 SubmittersRCV001053932 RCV004031695

NM_000719.7(CACNA1C):c.5900A>G (p.Gln1967Arg)

SNV
Germline

Chr12:2688562

Conflicting classifications of pathogenicity

Long QT syndrome
Timothy syndrome
Long QT syndrome 8
Brugada syndrome 3
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA383384392

rs_1178438128

3 SubmittersRCV001051169 RCV002497401 RCV004031588

NM_000219.6(KCNE1):c.314C>T (p.Ser105Leu)

SNV
Germline

Chr21:34449321

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA320425144

rs_780041404

5 SubmittersRCV001051089 RCV001557457 RCV002320284 RCV004777947

NM_000238.4(KCNH2):c.1128+6C>T

SNV
Germline

Chr7:150957285

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA027120

rs_746127862

2 SubmittersRCV001040819 RCV001842589

NM_000719.7(CACNA1C):c.1669+6C>T

SNV
Germline

Chr12:2566588

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6388827

rs_770007601

3 SubmittersRCV001034866 RCV001683728

NM_000238.4(KCNH2):c.1933A>C (p.Met645Leu)

SNV
Unknown

Chr7:150951460

Pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369857822

rs_199472974

1 SubmittersRCV001089521

NM_000238.4(KCNH2):c.95C>T (p.Ala32Val)

SNV
Unknown

Chr7:150974923

Pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369865988

rs_1801941580

1 SubmittersRCV001089534

NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro)

SNV
Unknown

Chr11:2572105

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA379131104

rs_199472720

1 SubmittersRCV001089529

NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu)

SNV
Germline

Chr11:2585288

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA379133913

rs_775362401

2 SubmittersRCV001089528

NM_000218.3(KCNQ1):c.604+2T>C

SNV
Unknown

Chr11:2570756

Pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA379130155

rs_1848322089

1 SubmittersRCV001089535

NM_000719.7(CACNA1C):c.4956+5G>C

SNV
Germline

Chr12:2677226

Conflicting classifications of pathogenicity

Brugada syndrome
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA6389651

rs_758948589

3 SubmittersRCV001089638 RCV002339391 RCV002554800

NM_000335.5(SCN5A):c.3803A>G (p.Asn1268Ser)

SNV
Germline

Chr3:38566443

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA062301

rs_761274563

8 SubmittersRCV001089973 RCV001144755 RCV001144756 RCV001150867 RCV001144754 RCV001150868 RCV001759861 RCV001842609 RCV002355108

NM_000218.3(KCNQ1):c.1590+1G>A

SNV
Germline

Chr11:2768920

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA031064

rs_767921776

4 SubmittersRCV001091851 RCV001862701 RCV006545895

NM_000218.3(KCNQ1):c.534C>T (p.Ala178=)

SNV
Germline

Chr11:2570684

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome type 2
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA472037825

rs_1848319199

5 SubmittersRCV001102705 RCV001102707 RCV001102706 RCV001102708 RCV001433573 RCV003160632 RCV006545905

NM_000218.3(KCNQ1):c.*81C>T

SNV
Germline

Chr11:2848084

Conflicting classifications of pathogenicity

Long QT syndrome 1
Short QT syndrome type 2
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3

Criteria Provided
Conflicting Classifications

CA040859

rs_771815387

1 SubmittersRCV001108484 RCV001108485 RCV001108486 RCV001108487

NM_000218.3(KCNQ1):c.780+12G>A

SNV
Germline

Chr11:2572121

Conflicting classifications of pathogenicity

Long QT syndrome 1
Atrial fibrillation, familial, 3
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA040368

rs_200796314

2 SubmittersRCV001107370 RCV001107368 RCV001107369 RCV001108019 RCV002067792

NM_000218.3(KCNQ1):c.921+12A>G

SNV
Germline

Chr11:2572998

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Long QT syndrome 1
Atrial fibrillation, familial, 3
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA1139661775

rs_1848365236

2 SubmittersRCV001104729 RCV001105872 RCV001104727 RCV001104728 RCV002069732

NM_000218.3(KCNQ1):c.1394-13A>G

SNV
Germline

Chr11:2661948

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Long QT syndrome 1
Short QT syndrome type 2
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA029430

rs_747187696

2 SubmittersRCV001108205 RCV001108202 RCV001108203 RCV001108204 RCV003591844

NM_003098.3(SNTA1):c.*231C>T

SNV
Germline

Chr20:33408276

Conflicting classifications of pathogenicity

Long QT syndrome 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA313250769

rs_187657721

2 SubmittersRCV001143292 RCV001615124

NM_003098.3(SNTA1):c.816G>T (p.Thr272=)

SNV
Germline

Chr20:33412668

Conflicting classifications of pathogenicity

Long QT syndrome 12
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9817136

rs_371028127

2 SubmittersRCV001141564 RCV004032714

NM_003098.3(SNTA1):c.538A>G (p.Thr180Ala)

SNV
Germline

Chr20:33417882

Conflicting classifications of pathogenicity

Long QT syndrome 12
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9817196

rs_747367304

2 SubmittersRCV001143393 RCV004994264

NM_003098.3(SNTA1):c.312C>A (p.Gly104=)

SNV
Germline

Chr20:33439025

Conflicting classifications of pathogenicity

Long QT syndrome 12
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA9817244

rs_533476140

3 SubmittersRCV001136816 RCV002320370 RCV005093604

NM_003098.3(SNTA1):c.115G>A (p.Val39Met)

SNV
Germline

Chr20:33443506

Conflicting classifications of pathogenicity

Long QT syndrome 12
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA9817271

rs_755986911

3 SubmittersRCV001136819 RCV002375035 RCV003647825

NM_172201.2(KCNE2):c.*11A>C

SNV
Germline

Chr21:34370861

Conflicting classifications of pathogenicity

Long QT syndrome 6
Atrial fibrillation, familial, 4

Criteria Provided
Conflicting Classifications

CA10013451

rs_558860396

2 SubmittersRCV001142020 RCV001142021

NM_003098.3(SNTA1):c.1238-14T>C

SNV
Germline

Chr20:33408902

Conflicting classifications of pathogenicity

Long QT syndrome 12
Condition: not provided
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA9817001

rs_369876616

4 SubmittersRCV001138960 RCV001638045 RCV002070637 RCV006455459

NM_000335.5(SCN5A):c.*1820C>G

SNV
Germline

Chr3:38548501

Conflicting classifications of pathogenicity

Long QT syndrome 3
Ventricular fibrillation, paroxysmal familial, type 1
Sick sinus syndrome 1
Brugada syndrome 1
Progressive familial heart block, type 1A
Dilated cardiomyopathy 1E

Criteria Provided
Conflicting Classifications

CA72937218

rs_45610536

1 SubmittersRCV001148908 RCV001146110 RCV001148909 RCV001146109 RCV001146111 RCV001148910

NM_000335.5(SCN5A):c.*1414G>C

SNV
Germline

Chr3:38548907

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1E
Ventricular fibrillation, paroxysmal familial, type 1
Long QT syndrome 3
Progressive familial heart block, type 1A
Brugada syndrome 1
Sick sinus syndrome 1

Criteria Provided
Conflicting Classifications

CA72937324

rs_74954894

1 SubmittersRCV001149032 RCV001150542 RCV001150543 RCV001150544 RCV001150545 RCV001150541

NM_000335.5(SCN5A):c.5218G>A (p.Asp1740Asn)

SNV
Germline

Chr3:38551151

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064269

rs_746418124

5 SubmittersRCV001150432 RCV001150433 RCV001150434 RCV001150435 RCV001150436 RCV001150437 RCV002348582 RCV004000256 RCV003718367

NM_000335.5(SCN5A):c.3993G>A (p.Pro1331=)

SNV
Germline

Chr3:38560396

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA062702

rs_775789293

9 SubmittersRCV001147530 RCV001147532 RCV001147531 RCV001147533 RCV001147534 RCV001147535 RCV001531990 RCV001842613 RCV001700980 RCV002375039

NM_001148.6(ANK2):c.312A>G (p.Ala104=)

SNV
Germline

Chr4:113199037

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3050000

rs_140254310

5 SubmittersRCV001144902 RCV001392568 RCV005405499 RCV005589967

NM_001148.6(ANK2):c.3337A>G (p.Thr1113Ala)

SNV
Germline

Chr4:113333166

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3050821

rs_150841275

3 SubmittersRCV001149717 RCV001236872 RCV002320377

NM_001148.6(ANK2):c.4158C>T (p.Phe1386=)

SNV
Germline

Chr4:113343052

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051004

rs_567608851

3 SubmittersRCV001147335 RCV001424247 RCV002327411

NM_001148.6(ANK2):c.4284A>G (p.Leu1428=)

SNV
Germline

Chr4:113345935

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA103806746

rs_963639278

3 SubmittersRCV001147336 RCV002070788 RCV005589969

NM_001148.6(ANK2):c.5456C>T (p.Ala1819Val)

SNV
Germline

Chr4:113354074

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051233

rs_753589550

4 SubmittersRCV001149830 RCV002348581 RCV003647826 RCV004694930

NM_001148.6(ANK2):c.7346A>G (p.His2449Arg)

SNV
Germline

Chr4:113355964

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA357930140

rs_2095739184

3 SubmittersRCV001149938 RCV003769718 RCV004639482

NM_001148.6(ANK2):c.7848A>G (p.Lys2616=)

SNV
Germline

Chr4:113356466

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA440879133

rs_1334157294

2 SubmittersRCV001145604 RCV001858955

NM_001148.6(ANK2):c.9606C>T (p.Ser3202=)

SNV
Germline

Chr4:113358224

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051949

rs_370760271

3 SubmittersRCV001145740 RCV001404096 RCV005589968

NM_001148.6(ANK2):c.11682C>T (p.Thr3894=)

SNV
Germline

Chr4:113373161

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3052346

rs_758235027

3 SubmittersRCV001145852 RCV002070761 RCV002327410

NM_001148.6(ANK2):c.84+11G>A

SNV
Germline

Chr4:113049823

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3049848

rs_759736399

2 SubmittersRCV001144899 RCV002070746

NM_001148.6(ANK2):c.1387-8C>T

SNV
Germline

Chr4:113264889

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3050288

rs_748602773

2 SubmittersRCV001151109 RCV002070827

NM_001148.6(ANK2):c.3379+4C>T

SNV
Germline

Chr4:113333212

Conflicting classifications of pathogenicity

Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3050827

rs_752152002

3 SubmittersRCV001149719 RCV004994265 RCV005093646

NM_000238.4(KCNH2):c.3072C>T (p.Asn1024=)

SNV
Germline

Chr7:150947408

Conflicting classifications of pathogenicity

Long QT syndrome 2
Condition: not provided
Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA036489

rs_781274793

6 SubmittersRCV001159567 RCV001171872 RCV001449170 RCV001842614 RCV002319665

NM_000238.4(KCNH2):c.2793G>A (p.Pro931=)

SNV
Germline

Chr7:150947778

Conflicting classifications of pathogenicity

Long QT syndrome 2
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA169072570

rs_200976506

5 SubmittersRCV001160949 RCV001472345 RCV002436726 RCV003591845

NM_000238.4(KCNH2):c.1707C>T (p.Tyr569=)

SNV
Germline

Chr7:150951686

Conflicting classifications of pathogenicity

Long QT syndrome 2
Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA029261

rs_777831008

5 SubmittersRCV001164595 RCV001483250 RCV001842617 RCV003163358

NM_000238.4(KCNH2):c.1308G>A (p.Thr436=)

SNV
Germline

Chr7:150952674

Conflicting classifications of pathogenicity

Long QT syndrome 2
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA027601

rs_527911312

5 SubmittersRCV001161092 RCV001394878 RCV004032851 RCV006545913

NM_000238.4(KCNH2):c.1053G>A (p.Ser351=)

SNV
Germline

Chr7:150957366

Conflicting classifications of pathogenicity

Long QT syndrome 2
Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA026737

rs_766203252

6 SubmittersRCV001162643 RCV001462537 RCV001655689 RCV002402520 RCV003591846

NM_000238.4(KCNH2):c.684G>A (p.Ala228=)

SNV
Germline

Chr7:150958291

Conflicting classifications of pathogenicity

Long QT syndrome 2
Long QT syndrome
Cardiovascular phenotype
Short QT syndrome type 1
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA458872294

rs_1350217087

4 SubmittersRCV001164707 RCV001231582 RCV002365811 RCV002497593

NM_000238.4(KCNH2):c.2965+11C>T

SNV
Germline

Chr7:150947595

Conflicting classifications of pathogenicity

Long QT syndrome 2
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA035690

rs_770052290

2 SubmittersRCV001159569 RCV001859035

NM_000238.4(KCNH2):c.77-6C>G

SNV
Germline

Chr7:150974947

Conflicting classifications of pathogenicity

Long QT syndrome 2
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA913187643

rs_1474982625

3 SubmittersRCV001159792 RCV001351138 RCV001842615

NM_005751.5(AKAP9):c.9032A>G (p.Asp3011Gly)

SNV
Germline

Chr7:92086235

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337648

rs_745743634

3 SubmittersRCV001174820 RCV001873652 RCV002375056

NM_001035.3(RYR2):c.4093G>A (p.Ala1365Thr)

SNV
Germline

Chr1:237590925

Conflicting classifications of pathogenicity

Cardiomyopathy
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA345397727

rs_1159247790

3 SubmittersRCV001181358 RCV003318394 RCV004986888

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
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA345406889

rs_1259517167

4 SubmittersRCV001179266 RCV002558904 RCV003318393 RCV005732295

NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter)

SNV
Germline

Chr3:38633181

Pathogenic

Cardiac arrhythmia
Brugada syndrome 1
Long QT syndrome 3
Condition: not provided
Brugada syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA352158671

rs_1553607597

5 SubmittersRCV001843273 RCV002265957 RCV005623392 RCV006257329

NM_000238.4(KCNH2):c.1342G>A (p.Ala448Thr)

SNV
Germline

Chr7:150952640

Conflicting classifications of pathogenicity

Cardiac arrhythmia
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA369859952

rs_767723985

3 SubmittersRCV001843242 RCV002559080 RCV005405527

NM_000238.4(KCNH2):c.135C>T (p.Asn45=)

SNV
Germline

Chr7:150974883

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA458872441

rs_1422251865

2 SubmittersRCV001341828 RCV001843052

NM_000238.4(KCNH2):c.38C>A (p.Thr13Asn)

SNV
Germline

Chr7:150977876

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
Short QT syndrome type 1
Long QT syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA039255

rs_758978727

7 SubmittersRCV001349592 RCV001843182 RCV002356845 RCV002491536 RCV003130174

NM_000218.3(KCNQ1):c.1345G>A (p.Glu449Lys)

SNV
Germline

Chr11:2588806

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA028825

rs_372583676

4 SubmittersRCV001314649 RCV002379717 RCV001843269

NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr)

SNV
Germline

Chr11:2662023

Conflicting classifications of pathogenicity

Condition: not provided
Cardiac arrhythmia
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome
KCNQ1-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA029975

rs_753256800

8 SubmittersRCV001751341 RCV001841033 RCV002480624 RCV002560015 RCV004733172 RCV004619539

NM_000218.3(KCNQ1):c.1459G>A (p.Glu487Lys)

SNV
Germline

Chr11:2662026

Conflicting classifications of pathogenicity

Cardiac arrhythmia
Cardiovascular phenotype
Long QT syndrome
KCNQ1-related disorder

Criteria Provided
Conflicting Classifications

CA379479615

rs_1205552952

5 SubmittersRCV001841116 RCV002393439 RCV002560958 RCV004545111

NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser)

SNV
Germline

Chr11:2778008

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiac arrhythmia
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Long QT syndrome 1
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA032686

rs_780676796

8 SubmittersRCV001233933 RCV002224008 RCV001843217 RCV002484008 RCV003317443 RCV004033334

NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser)

SNV
Germline

Chr11:2847908

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Beckwith-Wiedemann syndrome
Short QT syndrome type 2
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA033794

rs_763478809

5 SubmittersRCV001228890 RCV001841126 RCV002484042 RCV002411719

NM_000218.3(KCNQ1):c.683+3G>A

SNV
Germline

Chr11:2571406

Conflicting classifications of pathogenicity

Cardiac arrhythmia
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA216310823

rs_1025802726

4 SubmittersRCV001843299 RCV001859118 RCV003293952

NM_000218.3(KCNQ1):c.1129-8G>T

SNV
Germline

Chr11:2587562

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA027324

rs_200612600

2 SubmittersRCV001506212 RCV001843168

NM_000218.3(KCNQ1):c.1394-6C>A

SNV
Germline

Chr11:2661955

Conflicting classifications of pathogenicity

not specified
Cardiac arrhythmia
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA029792

rs_759714698

5 SubmittersRCV001732067 RCV001840977 RCV003770090 RCV004033365

NM_000218.3(KCNQ1):c.1732+4G>A

SNV
Germline

Chr11:2777036

Conflicting classifications of pathogenicity

Cardiac arrhythmia
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA934479784

rs_1846720105

3 SubmittersRCV001843207 RCV005582559 RCV005093888

NM_000238.4(KCNH2):c.1557+6G>A

SNV
Germline

Chr7:150952419

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA028475

rs_746174154

3 SubmittersRCV001304777 RCV001840984

NM_000218.3(KCNQ1):c.683+4C>T

SNV
Germline

Chr11:2571407

Conflicting classifications of pathogenicity

Cardiac arrhythmia
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA039816

rs_554698776

4 SubmittersRCV001843105 RCV001876040 RCV002365860

NM_001148.6(ANK2):c.9703C>T (p.Pro3235Ser)

SNV
Germline

Chr4:113358321

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051970

rs_202098889

4 SubmittersRCV001192820 RCV001205686 RCV002375119

NM_005751.5(AKAP9):c.7074A>C (p.Lys2358Asn)

SNV
Germline

Chr7:92079207

Conflicting classifications of pathogenicity

not specified
Long QT syndrome
Long QT syndrome 11
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA161885230

rs_150968594

4 SubmittersRCV001192964 RCV001229168 RCV002504218 RCV002365889

NM_000218.3(KCNQ1):c.153C>A (p.Tyr51Ter)

SNV
Germline

Chr11:2445251

Pathogenic

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA379116387

rs_397508096

2 SubmittersRCV001390367 RCV001841183

NM_033337.3(CAV3):c.57C>A (p.Cys19Ter)

SNV
Germline

Chr3:8733933

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA351661381

rs_1182984115

5 SubmittersRCV001222783 RCV001509209 RCV003163726

NM_001148.6(ANK2):c.6170C>T (p.Pro2057Leu)

SNV
Germline

Chr4:113354788

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051377

rs_146531225

4 SubmittersRCV001219994 RCV002356938 RCV002497750 RCV005057115

NM_001148.6(ANK2):c.9137G>A (p.Ser3046Asn)

SNV
Germline

Chr4:113357755

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3051874

rs_748521267

3 SubmittersRCV001216854 RCV002375190 RCV004584866

NM_005751.5(AKAP9):c.10145A>C (p.Lys3382Thr)

SNV
Germline

Chr7:92097104

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337902

rs_147033628

2 SubmittersRCV001223866 RCV002322084

NM_000890.5(KCNJ5):c.724C>T (p.Arg242Trp)

SNV
Germline

Chr11:128911997

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6357924

rs_576156828

2 SubmittersRCV001219115 RCV003294056

NM_000719.7(CACNA1C):c.2816T>C (p.Val939Ala)

SNV
Germline

Chr12:2597252

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389059

rs_754495060

2 SubmittersRCV001219053 RCV002436842

NM_000719.7(CACNA1C):c.5339G>A (p.Arg1780His)

SNV
Germline

Chr12:2679691

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA6389757

rs_756829999

3 SubmittersRCV001216732 RCV002348723 RCV003414011

NM_006888.6(CALM1):c.395A>T (p.Asp132Val)

SNV
Germline

Chr14:90404488

Pathogenic

Long QT syndrome 14
Catecholaminergic polymorphic ventricular tachycardia 4

Criteria Provided
Single Submitter

CA390690357

rs_1887113791

1 SubmittersRCV001219455

NM_001148.6(ANK2):c.5365A>C (p.Ile1789Leu)

SNV
Germline

Chr4:113353983

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051211

rs_527462024

2 SubmittersRCV001203393 RCV005589982

NM_001148.6(ANK2):c.9161C>G (p.Ala3054Gly)

SNV
Germline

Chr4:113357779

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051876

rs_139007578

2 SubmittersRCV001209866 RCV002375154

NM_000238.4(KCNH2):c.1688G>A (p.Trp563Ter)

SNV
Germline

Chr7:150951705

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369858784

rs_1801175648

1 SubmittersRCV001213523

NM_005751.5(AKAP9):c.4131G>C (p.Glu1377Asp)

SNV
Germline

Chr7:92022992

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4336482

rs_373313419

3 SubmittersRCV001204698 RCV002327467 RCV002491617

NM_005751.5(AKAP9):c.10486G>A (p.Ala3496Thr)

SNV
Germline

Chr7:92097673

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337963

rs_759219564

2 SubmittersRCV001206103 RCV002402597

NM_005751.5(AKAP9):c.10560A>G (p.Gln3520=)

SNV
Germline

Chr7:92097747

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
AKAP9-related disorder

Criteria Provided
Conflicting Classifications

CA4337969

rs_369522150

3 SubmittersRCV001209083 RCV002402615 RCV003414000

NM_005751.5(AKAP9):c.11360G>A (p.Arg3787Gln)

SNV
Germline

Chr7:92105707

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4338179

rs_199880764

3 SubmittersRCV001206210 RCV002322012 RCV003142133

NM_000890.5(KCNJ5):c.214C>T (p.Arg72Trp)

SNV
Germline

Chr11:128911487

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 13
Familial hyperaldosteronism type III

Criteria Provided
Conflicting Classifications

CA6357841

rs_757877367

5 SubmittersRCV001211391 RCV002224025 RCV002429897 RCV002484150

NM_000218.3(KCNQ1):c.1664G>T (p.Arg555Leu)

SNV
Germline

Chr11:2776033

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA216320521

rs_199472800

2 SubmittersRCV001210393 RCV005652552

NM_000218.3(KCNQ1):c.1032+2T>C

SNV
Germline

Chr11:2583547

Pathogenic/Likely pathogenic

Long QT syndrome
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA379133138

rs_1848538318

2 SubmittersRCV001209167 RCV003314678

NM_003098.3(SNTA1):c.496+3A>G

SNV
Germline

Chr20:33438838

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9817221

rs_768667646

2 SubmittersRCV001210298 RCV004994330

NM_001743.6(CALM2):c.395A>G (p.Asp132Gly)

SNV
Germline

Chr2:47161749

Pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA346719049

rs_1687164164

1 SubmittersRCV002241435

NM_001148.6(ANK2):c.6217A>G (p.Ile2073Val)

SNV
Germline

Chr4:113354835

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051387

rs_749398563

2 SubmittersRCV001225850 RCV002356958

NM_001148.6(ANK2):c.7729G>A (p.Gly2577Arg)

SNV
Germline

Chr4:113356347

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051646

rs_768485016

3 SubmittersRCV001238150 RCV001328621 RCV004034570

NM_001148.6(ANK2):c.8263G>A (p.Glu2755Lys)

SNV
Germline

Chr4:113356881

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA357933587

rs_2095817122

2 SubmittersRCV001238243 RCV002430017

NM_001148.6(ANK2):c.9478G>T (p.Glu3160Ter)

SNV
Germline

Chr4:113358096

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA357937700

rs_2095919119

1 SubmittersRCV001227047

NM_001148.6(ANK2):c.9689C>T (p.Thr3230Met)

SNV
Germline

Chr4:113358307

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051968

rs_752093696

2 SubmittersRCV001233301 RCV002375241

NM_001148.6(ANK2):c.10295C>A (p.Ala3432Asp)

SNV
Germline

Chr4:113358913

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA103817920

rs_147245875

2 SubmittersRCV001235127 RCV002379896

NM_000238.4(KCNH2):c.233C>T (p.Ala78Val)

SNV
Germline

Chr7:150974785

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA369865525

rs_1801933488

2 SubmittersRCV001230469 RCV005863386

NM_005751.5(AKAP9):c.2704T>G (p.Leu902Val)

SNV
Germline

Chr7:92002621

Conflicting classifications of pathogenicity

Long QT syndrome
AKAP9-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA161908257

rs_893173151

3 SubmittersRCV001225917 RCV003393897 RCV005340691

NM_000218.3(KCNQ1):c.964A>C (p.Thr322Pro)

SNV
Germline

Chr11:2583477

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379133010

rs_199472754

1 SubmittersRCV001234269

NM_006888.6(CALM1):c.426C>A (p.Phe142Leu)

SNV
Germline

Chr14:90404693

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 4
Long QT syndrome 14

Criteria Provided
Single Submitter

CA390690455

rs_199744595

1 SubmittersRCV001235389

NM_000219.6(KCNE1):c.120C>T (p.Gly40=)

SNV
Germline

Chr21:34449515

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2
Cardiovascular phenotype
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA320425453

rs_756778741

4 SubmittersRCV001237638 RCV002504332 RCV003166475 RCV004778023

NM_001148.6(ANK2):c.11522C>T (p.Pro3841Leu)

SNV
Germline

Chr4:113369717

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3052299

rs_767769233

3 SubmittersRCV001247696 RCV002272429 RCV002348845

NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter)

SNV
Germline

Chr7:150957416

Pathogenic

Long QT syndrome
Long QT syndrome 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA369861673

rs_1801410644

3 SubmittersRCV001243526 RCV003485690 RCV005628304

NM_000238.4(KCNH2):c.638A>G (p.Asp213Gly)

SNV
Germline

Chr7:150958337

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA040150

rs_531677961

2 SubmittersRCV001247495 RCV005367793

NM_005751.5(AKAP9):c.1682C>T (p.Ala561Val)

SNV
Germline

Chr7:92001599

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA4336046

rs_149162273

3 SubmittersRCV001241646 RCV002411890 RCV004699228

NM_005751.5(AKAP9):c.3299A>G (p.Asn1100Ser)

SNV
Germline

Chr7:92003216

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4336264

rs_201184315

3 SubmittersRCV001241859 RCV002322149 RCV002491808

NM_005751.5(AKAP9):c.4457A>G (p.His1486Arg)

SNV
Germline

Chr7:92038537

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336580

rs_755931396

2 SubmittersRCV001239555 RCV002327576

NM_005751.5(AKAP9):c.6146T>C (p.Met2049Thr)

SNV
Germline

Chr7:92065399

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368132717

rs_1810610818

2 SubmittersRCV001242119 RCV005340720

NM_005751.5(AKAP9):c.9022G>A (p.Glu3008Lys)

SNV
Germline

Chr7:92085684

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4337632

rs_190695638

3 SubmittersRCV001239838 RCV002375264 RCV002484312

NM_005751.5(AKAP9):c.10741T>G (p.Cys3581Gly)

SNV
Germline

Chr7:92099714

Conflicting classifications of pathogenicity

Long QT syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4338020

rs_149819328

3 SubmittersRCV001241599 RCV001586082 RCV002418830

NM_000218.3(KCNQ1):c.1591C>T (p.Gln531Ter)

SNV
Germline

Chr11:2775960

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379139058

rs_1381293874

1 SubmittersRCV001239995

NM_000719.7(CACNA1C):c.865C>A (p.Leu289Ile)

SNV
Germline

Chr12:2486211

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided
CACNA1C-related disorder

Criteria Provided
Conflicting Classifications

CA6388548

rs_770311259

4 SubmittersRCV001243525 RCV002375288 RCV002223291 RCV003414055

NM_000719.7(CACNA1C):c.5236G>A (p.Glu1746Lys)

SNV
Germline

Chr12:2679588

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6389737

rs_759468937

3 SubmittersRCV001242855 RCV002339673 RCV004727032

NM_000719.7(CACNA1C):c.5894C>T (p.Pro1965Leu)

SNV
Germline

Chr12:2688556

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 8
Timothy syndrome
Brugada syndrome 3
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA231617697

rs_958489483

3 SubmittersRCV001246201 RCV002484377 RCV004601422

NM_001032283.3(TMPO):c.565+1662T>G

SNV
Germline

Chr12:98533500

Conflicting classifications of pathogenicity

Loeys-Dietz syndrome 2
Condition: not provided
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6732388

rs_200367787

4 SubmittersRCV001243793 RCV003393910 RCV003318398 RCV004034762

NM_000218.3(KCNQ1):c.1732+1G>A

SNV
Germline

Chr11:2777033

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379139349

rs_1846719993

1 SubmittersRCV001228784

NM_005751.5(AKAP9):c.576+5G>T

SNV
Germline

Chr7:91993060

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1104461531

rs_376631476

2 SubmittersRCV001246368 RCV001587280

NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter)

SNV
Unknown

Chr7:150952753

Pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369860169

rs_199472892

1 SubmittersRCV001248798

NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe)

SNV
Unknown

Chr7:150974872

Likely pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369865805

rs_199472840

1 SubmittersRCV001248797

NM_033337.3(CAV3):c.299T>A (p.Ile100Asn)

SNV
Germline

Chr3:8745710

Likely pathogenic

Hypertrophic cardiomyopathy 1
Elevated circulating creatine kinase concentration
Long QT syndrome 9
Rippling muscle disease 2
Distal myopathy, Tateyama type

Criteria Provided
Single Submitter

CA351663470

rs_1708139265

1 SubmittersRCV001249608

NM_006888.6(CALM1):c.422A>G (p.Glu141Gly)

SNV
Unknown

Chr14:90404689

Pathogenic

Long QT syndrome 14

Criteria Provided
Single Submitter

CA390690436

rs_1887120112

1 SubmittersRCV001250791

NM_006888.6(CALM1):c.422A>T (p.Glu141Val)

SNV
Unknown

Chr14:90404689

Pathogenic

Long QT syndrome 14

Criteria Provided
Single Submitter

CA390690437

rs_1887120112

1 SubmittersRCV001250792

NM_000238.4(KCNH2):c.2345T>C (p.Ile782Thr)

SNV
Germline

Chr7:150950221

Likely pathogenic

Long QT syndrome
Long QT syndrome 2

Criteria Provided
Single Submitter

CA369856072

rs_1801085857

2 SubmittersRCV001254742 RCV004594257

NM_000238.4(KCNH2):c.1909G>T (p.Glu637Ter)

SNV
Germline

Chr7:150951484

Pathogenic

Long QT syndrome

No Assertion Criteria Provided

CA369857863

rs_199472968

1 SubmittersRCV001254732

NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro)

SNV
Germline

Chr7:150951798

Conflicting classifications of pathogenicity

Long QT syndrome 1
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

CA369859167

rs_1801182500

2 SubmittersRCV001256905 RCV002471062

NM_005751.5(AKAP9):c.1981A>C (p.Ile661Leu)

SNV
Germline

Chr7:92001898

Conflicting classifications of pathogenicity

Long QT syndrome 1
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA161907559

rs_961090757

3 SubmittersRCV001256717 RCV002418861 RCV002570609

NM_000335.5(SCN5A):c.2482C>G (p.Leu828Val)

SNV
Germline

Chr3:38585996

Pathogenic

Long QT syndrome 3

No Assertion Criteria Provided

CA352142604

rs_794728929

1 SubmittersRCV001257451

NM_000238.4(KCNH2):c.2054G>A (p.Arg685His)

SNV
Germline

Chr7:150951012

Conflicting classifications of pathogenicity

Long QT syndrome 2
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA030505

rs_758751607

5 SubmittersRCV001258196 RCV001879987 RCV002418862 RCV006548032

NM_000218.3(KCNQ1):c.287C>G (p.Thr96Arg)

SNV
Germline

Chr11:2445385

Conflicting classifications of pathogenicity

Long QT syndrome 1
Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA379117270

rs_1337409061

4 SubmittersRCV001262825 RCV002436982 RCV002541598 RCV004727059

NM_000218.3(KCNQ1):c.1195G>T (p.Ala399Ser)

SNV
Germline

Chr11:2587636

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5822079

rs_571899254

4 SubmittersRCV001294856 RCV001841200 RCV004035423

NM_001148.6(ANK2):c.11182G>A (p.Val3728Ile)

SNV
Germline

Chr4:113367715

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3052242

rs_773907372

3 SubmittersRCV001812276 RCV002436995 RCV003532925

NM_000218.3(KCNQ1):c.698T>C (p.Leu233Pro)

SNV
Germline

Chr11:2572027

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA040036

rs_780236727

4 SubmittersRCV001565355 RCV001871679 RCV002366107

NM_001148.6(ANK2):c.229G>A (p.Val77Met)

SNV
Germline

Chr4:113196410

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3049970

rs_776254819

4 SubmittersRCV001308456 RCV002447318 RCV002493617 RCV004797930

NM_001148.6(ANK2):c.7111G>A (p.Glu2371Lys)

SNV
Germline

Chr4:113355729

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA103814931

rs_1033059668

2 SubmittersRCV001304990 RCV004994395

NM_001148.6(ANK2):c.8423A>G (p.Tyr2808Cys)

SNV
Germline

Chr4:113357041

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051770

rs_545512501

3 SubmittersRCV001302056 RCV003346441 RCV005208161

NM_000238.4(KCNH2):c.1897A>C (p.Asn633His)

SNV
Germline

Chr7:150951496

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369857883

rs_199472960

1 SubmittersRCV001298158

NM_005751.5(AKAP9):c.2618A>G (p.Lys873Arg)

SNV
Germline

Chr7:92002535

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336168

rs_746429266

2 SubmittersRCV001301817 RCV003382508

NM_005751.5(AKAP9):c.6676G>A (p.Val2226Ile)

SNV
Germline

Chr7:92076918

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4337143

rs_561591139

3 SubmittersRCV001302182 RCV002366138 RCV002493591

NM_005751.5(AKAP9):c.6970A>G (p.Ile2324Val)

SNV
Germline

Chr7:92079103

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4337210

rs_184676617

3 SubmittersRCV001296595 RCV002366120 RCV002493560

NM_005751.5(AKAP9):c.8783G>A (p.Arg2928Gln)

SNV
Germline

Chr7:92084891

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 11
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA4337586

rs_141103974

4 SubmittersRCV001305888 RCV002493603 RCV004036373 RCV006269375

NM_000890.5(KCNJ5):c.53C>T (p.Thr18Ile)

SNV
Germline

Chr11:128911326

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6357811

rs_375669366

3 SubmittersRCV001305885 RCV002245954 RCV002350554

NM_000890.5(KCNJ5):c.119C>T (p.Thr40Met)

SNV
Germline

Chr11:128911392

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 13
Familial hyperaldosteronism type III
not specified

Criteria Provided
Conflicting Classifications

CA6357823

rs_185412918

3 SubmittersRCV001308690 RCV002504470 RCV005437065

NM_000890.5(KCNJ5):c.415G>A (p.Ala139Thr)

SNV
Germline

Chr11:128911688

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6357869

rs_201816501

2 SubmittersRCV001306242 RCV004034084

NM_000218.3(KCNQ1):c.752T>A (p.Leu251Gln)

SNV
Germline

Chr11:2572081

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379131020

rs_199472716

1 SubmittersRCV001301619

NM_000218.3(KCNQ1):c.1348G>A (p.Glu450Lys)

SNV
Germline

Chr11:2588809

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA028841

rs_148266527

4 SubmittersRCV001298493 RCV001567242 RCV002380002

NM_000719.7(CACNA1C):c.6091G>A (p.Gly2031Ser)

SNV
Germline

Chr12:2688753

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Brugada syndrome 3
Timothy syndrome
Long QT syndrome 8
not specified

Criteria Provided
Conflicting Classifications

CA383385434

rs_1464980383

4 SubmittersRCV001299756 RCV002357095 RCV002499556 RCV005628307

NM_000219.6(KCNE1):c.277G>A (p.Ala93Thr)

SNV
Germline

Chr21:34449358

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Long QT syndrome 5
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA410198120

rs_1310229049

6 SubmittersRCV001296331 RCV002224047 RCV004778044 RCV005652592

NM_001148.6(ANK2):c.1993C>T (p.Pro665Ser)

SNV
Germline

Chr4:113282786

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3050417

rs_758281393

3 SubmittersRCV001324803 RCV002418974 RCV002493695

NM_001148.6(ANK2):c.4981A>G (p.Lys1661Glu)

SNV
Germline

Chr4:113353599

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA3051160

rs_776676676

3 SubmittersRCV001318995 RCV002350584 RCV005437082

NM_001148.6(ANK2):c.5431C>A (p.Pro1811Thr)

SNV
Germline

Chr4:113354049

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051224

rs_200645469

2 SubmittersRCV001316507 RCV002350577

NM_001148.6(ANK2):c.5497C>T (p.Leu1833Phe)

SNV
Germline

Chr4:113354115

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA357919924

rs_1194139877

2 SubmittersRCV001325877 RCV002350604

NM_001148.6(ANK2):c.6896A>T (p.Asp2299Val)

SNV
Germline

Chr4:113355514

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051488

rs_769627306

2 SubmittersRCV001313673 RCV005660103

NM_001148.6(ANK2):c.7529T>G (p.Leu2510Arg)

SNV
Germline

Chr4:113356147

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051608

rs_557294831

3 SubmittersRCV001324556 RCV001751629 RCV004629568

NM_001148.6(ANK2):c.9556G>A (p.Val3186Met)

SNV
Germline

Chr4:113358174

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051940

rs_759441164

2 SubmittersRCV001322310 RCV002384421

NM_001148.6(ANK2):c.10547T>C (p.Ile3516Thr)

SNV
Germline

Chr4:113359165

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3052083

rs_765022083

2 SubmittersRCV001320574 RCV004995678

NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro)

SNV
Germline

Chr7:150950197

Likely pathogenic

Long QT syndrome
Long QT syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA369856029

rs_1801084514

2 SubmittersRCV001327902 RCV002285475

NM_000238.4(KCNH2):c.306T>C (p.Asp102=)

SNV
Germline

Chr7:150974712

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA169090225

rs_1005025657

3 SubmittersRCV001321339 RCV002275355 RCV002447360

NM_005751.5(AKAP9):c.1642A>G (p.Arg548Gly)

SNV
Germline

Chr7:92001559

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336042

rs_147247719

2 SubmittersRCV001324334 RCV005340785

NM_005751.5(AKAP9):c.4331T>C (p.Val1444Ala)

SNV
Germline

Chr7:92031597

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4336545

rs_762794527

3 SubmittersRCV001327827 RCV002329298 RCV002493713

NM_005751.5(AKAP9):c.4598G>A (p.Ser1533Asn)

SNV
Germline

Chr7:92038678

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4336595

rs_541209445

3 SubmittersRCV001323050 RCV002341667 RCV002504502

NM_005751.5(AKAP9):c.7454C>A (p.Ser2485Tyr)

SNV
Germline

Chr7:92079587

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337287

rs_373613868

2 SubmittersRCV001322551 RCV002384422

NM_005751.5(AKAP9):c.11231G>C (p.Gly3744Ala)

SNV
Germline

Chr7:92102727

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4338119

rs_148318643

3 SubmittersRCV001314133 RCV002438704 RCV002486227

NM_000218.3(KCNQ1):c.1559T>C (p.Met520Thr)

SNV
Germline

Chr11:2768888

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379138973

rs_199473479

1 SubmittersRCV001317809

NM_000719.7(CACNA1C):c.82G>A (p.Ala28Thr)

SNV
Germline

Chr12:2115256

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6388386

rs_373687005

4 SubmittersRCV001313869 RCV002431885 RCV002476451 RCV004793412

NM_000719.7(CACNA1C):c.6084G>T (p.Gln2028His)

SNV
Germline

Chr12:2688746

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6390073

rs_767141738

2 SubmittersRCV001313874 RCV002357126

NM_003098.3(SNTA1):c.1340G>A (p.Arg447Gln)

SNV
Germline

Chr20:33408786

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 12
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9816978

rs_752729935

3 SubmittersRCV001323693 RCV002476523 RCV004035107

NM_000218.3(KCNQ1):c.386+16231G>A

SNV
Germline

Chr11:2461715

Conflicting classifications of pathogenicity

Long QT syndrome 1

Criteria Provided
Conflicting Classifications

CA379119443

rs_1490391959

2 SubmittersRCV001328808

NM_000719.7(CACNA1C):c.1917C>T (p.Asn639=)

SNV
Germline

Chr12:2581611

Conflicting classifications of pathogenicity

Timothy syndrome
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA477883216

rs_1057524804

2 SubmittersRCV001331363 RCV001405463

NM_000238.4(KCNH2):c.2966-12C>G

SNV
Germline

Chr7:150947526

Conflicting classifications of pathogenicity

Long QT syndrome 2
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA1752429525

rs_1800949572

2 SubmittersRCV001336743 RCV004808016

NM_001743.6(CALM2):c.421+3A>G

SNV
Germline

Chr2:47161720

Conflicting classifications of pathogenicity

Long QT syndrome 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1648539

rs_372947059

3 SubmittersRCV002242385 RCV005306420 RCV004793450

NM_001148.6(ANK2):c.5431C>T (p.Pro1811Ser)

SNV
Germline

Chr4:113354049

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA103812253

rs_200645469

3 SubmittersRCV001352286 RCV002350664 RCV002486464

NM_001148.6(ANK2):c.7915C>G (p.His2639Asp)

SNV
Germline

Chr4:113356533

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051673

rs_529384341

2 SubmittersRCV001344642 RCV002419018

NM_001148.6(ANK2):c.8728G>A (p.Val2910Met)

SNV
Germline

Chr4:113357346

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051822

rs_748400535

2 SubmittersRCV001351450 RCV002377494

NM_001148.6(ANK2):c.9242A>T (p.Asp3081Val)

SNV
Germline

Chr4:113357860

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA103817300

rs_962522673

3 SubmittersRCV001346948 RCV002493787 RCV002377472

NM_000238.4(KCNH2):c.76+3G>A

SNV
Germline

Chr7:150977835

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA040384

rs_779301847

3 SubmittersRCV001343003 RCV003294353 RCV003591859

NM_005751.5(AKAP9):c.3793G>A (p.Glu1265Lys)

SNV
Germline

Chr7:92017058

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA368127254

rs_1424485718

5 SubmittersRCV001338059 RCV001796449 RCV002368116 RCV002486349

NM_005751.5(AKAP9):c.7565T>G (p.Ile2522Arg)

SNV
Germline

Chr7:92079698

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337309

rs_537613965

2 SubmittersRCV001342895 RCV003382541

NM_000218.3(KCNQ1):c.553G>C (p.Val185Leu)

SNV
Germline

Chr11:2570703

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA038359

rs_749351255

4 SubmittersRCV001348284 RCV001841213 RCV002350645 RCV005369845

NM_000218.3(KCNQ1):c.1112C>A (p.Ala371Glu)

SNV
Germline

Chr11:2585291

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379133925

rs_1848577150

1 SubmittersRCV001341790

NM_000218.3(KCNQ1):c.1760C>G (p.Thr587Arg)

SNV
Germline

Chr11:2778003

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379139700

rs_120074189

1 SubmittersRCV001340233

NM_000219.6(KCNE1):c.208A>G (p.Lys70Glu)

SNV
Germline

Chr21:34449427

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA410198268

rs_1568836235

3 SubmittersRCV001339189 RCV004035882 RCV004779081

NM_001743.6(CALM2):c.33A>G (p.Ala11=)

SNV
Germline

Chr2:47170735

Conflicting classifications of pathogenicity

Long QT syndrome 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA425961724

rs_1324754202

3 SubmittersRCV002242736 RCV003375266 RCV004728678

NM_001148.6(ANK2):c.4633C>A (p.Pro1545Thr)

SNV
Germline

Chr4:113353251

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA357915228

rs_760684730

2 SubmittersRCV001369983 RCV002329389

NM_001148.6(ANK2):c.7743G>T (p.Arg2581Ser)

SNV
Germline

Chr4:113356361

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA103815453

rs_544735923

2 SubmittersRCV001370019 RCV002404880

NM_001148.6(ANK2):c.8716A>G (p.Met2906Val)

SNV
Germline

Chr4:113357334

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051817

rs_533349333

2 SubmittersRCV001369284 RCV002377547

NM_001148.6(ANK2):c.10342A>T (p.Ser3448Cys)

SNV
Germline

Chr4:113358960

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA357940205

rs_1385620748

2 SubmittersRCV001368763 RCV002395835

NM_001148.6(ANK2):c.10685C>T (p.Pro3562Leu)

SNV
Germline

Chr4:113360826

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3052113

rs_779374859

3 SubmittersRCV001360557 RCV001576773 RCV002413850

NM_000238.4(KCNH2):c.1894C>G (p.Pro632Ala)

SNV
Germline

Chr7:150951499

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA369857887

rs_199473527

2 SubmittersRCV001362441 RCV002413860

NM_005751.5(AKAP9):c.6806A>T (p.Asp2269Val)

SNV
Germline

Chr7:92077736

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337178

rs_765553799

2 SubmittersRCV001361976 RCV002368170

NM_005751.5(AKAP9):c.7114A>G (p.Met2372Val)

SNV
Germline

Chr7:92079247

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4337233

rs_773105182

3 SubmittersRCV001360875 RCV002368167 RCV002493841

NM_005751.5(AKAP9):c.10291C>T (p.Leu3431Phe)

SNV
Germline

Chr7:92097250

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337918

rs_761824694

2 SubmittersRCV001359516 RCV004995706

NM_000890.5(KCNJ5):c.1123C>T (p.Arg375Trp)

SNV
Germline

Chr11:128916594

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6358000

rs_142454198

3 SubmittersRCV001369884 RCV001664854 RCV002438864

NM_000218.3(KCNQ1):c.950A>C (p.Asp317Ala)

SNV
Germline

Chr11:2583463

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379132985

rs_199472750

1 SubmittersRCV001365655

NM_000719.7(CACNA1C):c.284C>A (p.Thr95Asn)

SNV
Germline

Chr12:2115458

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6388417

rs_759941975

2 SubmittersRCV001366638 RCV005308425

NM_000719.7(CACNA1C):c.1026C>T (p.Gly342=)

SNV
Germline

Chr12:2493299

Conflicting classifications of pathogenicity

Long QT syndrome
Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA6388593

rs_752842357

2 SubmittersRCV001361450 RCV002488100

NM_000719.7(CACNA1C):c.3912C>T (p.Asn1304=)

SNV
Germline

Chr12:2634380

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA477910665

rs_1221384071

2 SubmittersRCV001371268 RCV002377552

NM_000719.7(CACNA1C):c.3995G>A (p.Arg1332Gln)

SNV
Germline

Chr12:2651689

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA383373573

rs_2153655235

3 SubmittersRCV001359392 RCV002260703 RCV004034527

NM_000719.7(CACNA1C):c.5404A>G (p.Ile1802Val)

SNV
Germline

Chr12:2679756

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389773

rs_370471203

2 SubmittersRCV001367164 RCV006352210

NM_000719.7(CACNA1C):c.6055C>G (p.Pro2019Ala)

SNV
Germline

Chr12:2688717

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6390067

rs_773185026

2 SubmittersRCV001373291 RCV002357274

NM_001743.6(CALM2):c.397G>A (p.Gly133Ser)

SNV
Germline

Chr2:47161747

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA346719046

rs_2103823599

1 SubmittersRCV002242878

NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu)

SNV
Germline

Chr7:150951565

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369857996

rs_2116960647

1 SubmittersRCV001377273

NM_000238.4(KCNH2):c.76+1G>A

SNV
Germline

Chr7:150977837

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369866592

rs_2117072529

1 SubmittersRCV001377644

NM_000218.3(KCNQ1):c.780+1G>A

SNV
Germline

Chr11:2572110

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379131122

rs_1564820836

1 SubmittersRCV001378656

NM_000218.3(KCNQ1):c.1252-2A>C

SNV
Germline

Chr11:2588711

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379134888

rs_771458482

1 SubmittersRCV001378172

NM_000218.3(KCNQ1):c.1394-1G>C

SNV
Germline

Chr11:2661960

Pathogenic

Long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379479305

rs_775537394

2 SubmittersRCV001377231 RCV004801000

NM_000219.6(KCNE1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr21:34449634

Pathogenic

Long QT syndrome
Long QT syndrome 5

Criteria Provided
Single Submitter

CA410198669

rs_2123460074

2 SubmittersRCV001376771 RCV004779113

NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter)

SNV
Germline

Chr7:150958158

Pathogenic/Likely pathogenic

Long QT syndrome
Long QT syndrome 2
Condition: not provided
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA369862380

rs_552583527

4 SubmittersRCV001390279 RCV002471107 RCV003317494 RCV004770140

NM_000218.3(KCNQ1):c.359G>A (p.Trp120Ter)

SNV
Germline

Chr11:2445457

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379117688

rs_2133560305

1 SubmittersRCV001387614

NM_000218.3(KCNQ1):c.1730C>G (p.Ser577Ter)

SNV
Germline

Chr11:2777030

Pathogenic/Likely pathogenic

Long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379139345

rs_2133990821

2 SubmittersRCV001381041 RCV004720888

NM_000218.3(KCNQ1):c.675G>C (p.Ser225=)

SNV
Germline

Chr11:2571395

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA472038030

rs_148566141

4 SubmittersRCV001406087 RCV002368270 RCV005403073

NM_006888.6(CALM1):c.4-9T>A

SNV
Germline

Chr14:90400056

Conflicting classifications of pathogenicity

Catecholaminergic polymorphic ventricular tachycardia 4
Long QT syndrome 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA615946826

rs_1213908678

2 SubmittersRCV001404174 RCV006252787

NM_003098.3(SNTA1):c.292C>T (p.Leu98=)

SNV
Germline

Chr20:33443329

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA510252398

rs_2146814454

2 SubmittersRCV001419856 RCV005051903

NM_005751.5(AKAP9):c.9468T>G (p.Ser3156=)

SNV
Germline

Chr7:92093206

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337770

rs_759583976

2 SubmittersRCV001444314 RCV002449198

NM_000719.7(CACNA1C):c.4233-4C>T

SNV
Germline

Chr12:2664821

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389520

rs_769538757

2 SubmittersRCV001447985 RCV002329510

NM_005751.5(AKAP9):c.6766-4C>T

SNV
Germline

Chr7:92077692

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1725747698

rs_1584452484

2 SubmittersRCV001496638 RCV002368515

NM_000719.7(CACNA1C):c.2794-5T>C

SNV
Germline

Chr12:2597225

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA602712860

rs_1568666242

2 SubmittersRCV001497541 RCV002439192

NM_000238.4(KCNH2):c.1509G>A (p.Val503=)

SNV
Germline

Chr7:150952473

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA169077360

rs_967889413

5 SubmittersRCV001692435 RCV001873694 RCV001842152 RCV004616750

NM_000218.3(KCNQ1):c.1139G>A (p.Arg380Lys)

SNV
Germline

Chr11:2587580

Conflicting classifications of pathogenicity

Cardiac arrhythmia
Long QT syndrome 1
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA379134656

rs_1848609806

4 SubmittersRCV001842062 RCV004789645 RCV005652676 RCV006616488

NM_000218.3(KCNQ1):c.1515-13C>G

SNV
Germline

Chr11:2768831

Conflicting classifications of pathogenicity

Cardiac arrhythmia
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA2499220876

rs_2133980915

2 SubmittersRCV001842136 RCV003771609

NM_005751.5(AKAP9):c.5870A>G (p.Asn1957Ser)

SNV
Germline

Chr7:92062379

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336938

rs_767966419

3 SubmittersRCV001526965 RCV002359152 RCV001882570

NM_000238.4(KCNH2):c.1425C>A (p.Tyr475Ter)

SNV
Somatic

Chr7:150952557

Pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369859783

rs_760584131

1 SubmittersRCV001534616

NM_000218.3(KCNQ1):c.1795-2A>G

SNV
Germline

Chr11:2847765

Conflicting classifications of pathogenicity

Jervell and Lange-Nielsen syndrome 1
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA216345010

rs_867564993

3 SubmittersRCV001822884 RCV002405229 RCV002568952

NM_000335.5(SCN5A):c.4910G>T (p.Arg1637Leu)

SNV
Germline

Chr3:38551459

Likely pathogenic

Condition: not provided
Long QT syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA352142977

rs_374557801

3 SubmittersRCV001548332 RCV004785277

NM_001148.6(ANK2):c.2329A>G (p.Ile777Val)

SNV
Germline

Chr4:113292467

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3050520

rs_757964072

3 SubmittersRCV002568286 RCV001546992 RCV005590071

NM_001148.6(ANK2):c.7265G>A (p.Ser2422Asn)

SNV
Germline

Chr4:113355883

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
not specified

Criteria Provided
Conflicting Classifications

CA3051565

rs_140341680

5 SubmittersRCV001548602 RCV002032577 RCV002386447 RCV002476852 RCV005408952

NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu)

SNV
Germline

Chr11:2585276

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA379133861

rs_199473410

4 SubmittersRCV001544877 RCV002032550 RCV003298922 RCV003591880

NM_000238.4(KCNH2):c.1858A>G (p.Ser620Gly)

SNV
Germline

Chr7:150951535

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA369857940

rs_2116960125

2 SubmittersRCV001549582 RCV005094770

NM_000891.3(KCNJ2):c.1222C>G (p.Leu408Val)

SNV
Germline

Chr17:70176261

Conflicting classifications of pathogenicity

Condition: not provided
Andersen Tawil syndrome
Short QT syndrome type 3
Congenital long QT syndrome
not specified
Cardiovascular phenotype
Andersen Tawil syndrome

Criteria Provided
Conflicting Classifications

CA8738808

rs_753757610

6 SubmittersRCV001557509 RCV002032622 RCV003447598 RCV004998947 RCV004039316 RCV005256820

NM_000238.4(KCNH2):c.232G>A (p.Ala78Thr)

SNV
Germline

Chr7:150974786

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA369865533

rs_199472848

2 SubmittersRCV001561645 RCV002471123

NM_000719.7(CACNA1C):c.3061T>C (p.Cys1021Arg)

SNV
Germline

Chr12:2605691

Conflicting classifications of pathogenicity

Timothy syndrome
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA383374104

rs_1057518301

3 SubmittersRCV003318403 RCV001561495 RCV001865981

NM_001148.6(ANK2):c.5327G>A (p.Arg1776Gln)

SNV
Germline

Chr4:113353945

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051203

rs_150207892

3 SubmittersRCV002568436 RCV001565735 RCV002343743

NM_001148.6(ANK2):c.6205C>T (p.Arg2069Cys)

SNV
Germline

Chr4:113354823

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3051383

rs_754572911

4 SubmittersRCV001565411 RCV002359180 RCV005094793

NM_000218.3(KCNQ1):c.1101G>C (p.Gln367His)

SNV
Germline

Chr11:2585280

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA379133878

rs_199473663

3 SubmittersRCV001569581 RCV005094803 RCV006352350

NM_001148.6(ANK2):c.6977A>G (p.Asp2326Gly)

SNV
Germline

Chr4:113355595

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051506

rs_777618921

4 SubmittersRCV001574596 RCV001882685 RCV002368597 RCV002476879

NM_001148.6(ANK2):c.8176A>G (p.Thr2726Ala)

SNV
Germline

Chr4:113356794

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3051726

rs_781344591

4 SubmittersRCV001583399 RCV002424998 RCV003224573 RCV003647842

NM_000238.4(KCNH2):c.131G>A (p.Cys44Tyr)

SNV
Germline

Chr7:150974887

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA369865856

rs_199473489

2 SubmittersRCV001581933 RCV003533011

NM_000218.3(KCNQ1):c.1100A>G (p.Gln367Arg)

SNV
Germline

Chr11:2585279

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA379133871

rs_2133754743

2 SubmittersRCV001593559 RCV003533013

NM_000719.7(CACNA1C):c.5162C>G (p.Thr1721Ser)

SNV
Germline

Chr12:2679514

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389722

rs_554737427

3 SubmittersRCV001585246 RCV001866183 RCV004039498

NM_000218.3(KCNQ1):c.1092C>T (p.Phe364=)

SNV
Germline

Chr11:2585271

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA472038502

rs_2133754700

3 SubmittersRCV001644371 RCV002539583 RCV004039546

NM_005751.5(AKAP9):c.5680A>G (p.Lys1894Glu)

SNV
Germline

Chr7:92061338

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4336892

rs_137971303

5 SubmittersRCV001699647 RCV002343794 RCV002539691 RCV003224576

NM_005751.5(AKAP9):c.8747C>A (p.Thr2916Lys)

SNV
Germline

Chr7:92084855

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4337577

rs_146648044

5 SubmittersRCV001700547 RCV001882773 RCV002370265 RCV002503157

NM_005751.5(AKAP9):c.7190C>G (p.Ala2397Gly)

SNV
Germline

Chr7:92079323

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337247

rs_372568340

4 SubmittersRCV001700582 RCV001868388 RCV002370266

NM_000218.3(KCNQ1):c.1033-12A>C

SNV
Germline

Chr11:2585200

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA026839

rs_200423553

3 SubmittersRCV001715654 RCV002538656 RCV003591886

NM_005751.5(AKAP9):c.1397G>A (p.Arg466Gln)

SNV
Germline

Chr7:92001314

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336007

rs_200034525

4 SubmittersRCV001730405 RCV002539796 RCV005341035

NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala)

SNV
Germline

Chr12:2608654

Pathogenic/Likely pathogenic

Condition: not provided
Timothy syndrome
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA383375591

rs_2153440081

3 SubmittersRCV001765427 RCV002246476 RCV003647853

NM_000719.7(CACNA1C):c.970C>T (p.Arg324Trp)

SNV
Germline

Chr12:2493243

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA383369728

rs_2154571835

2 SubmittersRCV001773211 RCV002290750

NM_001148.6(ANK2):c.11807A>G (p.Tyr3936Cys)

SNV
Germline

Chr4:113373397

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
not specified
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3052379

rs_377555678

5 SubmittersRCV001768372 RCV001868744 RCV002509697 RCV002334686 RCV002489820

NM_000719.7(CACNA1C):c.2569C>G (p.Pro857Ala)

SNV
Germline

Chr12:2593251

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA383372147

rs_1391136601

4 SubmittersRCV001800107 RCV003230696 RCV005095172

NM_000238.4(KCNH2):c.76+2T>A

SNV
Germline

Chr7:150977836

Likely pathogenic

Long QT syndrome 2
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA369866588

rs_794728419

2 SubmittersRCV001802757 RCV002541373

NM_033337.3(CAV3):c.213G>A (p.Trp71Ter)

SNV
Germline

Chr3:8745624

Pathogenic/Likely pathogenic

Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351663308

rs_2124988406

2 SubmittersRCV001806710

NM_174934.4(SCN4B):c.480C>G (p.Asn160Lys)

SNV
Germline

Chr11:118141320

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Long QT syndrome 10

Criteria Provided
Conflicting Classifications

CA6300190

rs_72546675

3 SubmittersRCV001806761 RCV004671446 RCV006557755

NM_000719.7(CACNA1C):c.3912+1G>A

SNV
Germline

Chr12:2634381

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA383380314

rs_1247088024

3 SubmittersRCV001813836 RCV006468022

NM_000238.4(KCNH2):c.1128+1G>A

SNV
Germline

Chr7:150957290

Likely pathogenic

Prolonged QT interval
Long QT syndrome

Criteria Provided
Single Submitter

CA369861404

rs_1405113457

2 SubmittersRCV001815634 RCV002542466

NM_000218.3(KCNQ1):c.605-2A>G

SNV
Germline

Chr11:2571323

Pathogenic/Likely pathogenic

Long QT syndrome
Long QT syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA379130366

rs_2133728692

3 SubmittersRCV003647857 RCV001839468 RCV002359276

NM_000218.3(KCNQ1):c.1252-1G>C

SNV
Germline

Chr11:2588712

Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA379134891

rs_1848628661

2 SubmittersRCV001840893 RCV003772365

NM_000719.7(CACNA1C):c.3416G>A (p.Arg1139His)

SNV
Germline

Chr12:2608570

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA383375338

rs_1373685560

2 SubmittersRCV001978006 RCV004042319

NM_001148.6(ANK2):c.4011T>A (p.His1337Gln)

SNV
Germline

Chr4:113341805

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA357909668

rs_1386325913

2 SubmittersRCV002024197 RCV004990580

NM_005751.5(AKAP9):c.3448C>T (p.Leu1150Phe)

SNV
Germline

Chr7:92012558

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 11
Cardiovascular phenotype
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA4336309

rs_750350575

4 SubmittersRCV001923357 RCV002490273 RCV003167153 RCV003319230

NM_001148.6(ANK2):c.6085G>C (p.Val2029Leu)

SNV
Germline

Chr4:113354703

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Brugada syndrome

Criteria Provided
Conflicting Classifications

CA357922325

rs_1403186964

3 SubmittersRCV001989485 RCV002352716 RCV005361902

NM_000238.4(KCNH2):c.473-2A>G

SNV
Germline

Chr7:150958504

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369863581

rs_2117007319

1 SubmittersRCV001959494

NM_000218.3(KCNQ1):c.943T>A (p.Tyr315Asn)

SNV
Germline

Chr11:2583456

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379132980

rs_1554894448

1 SubmittersRCV001934421

NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr)

SNV
Germline

Chr7:150951471

Pathogenic

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA369857841

rs_199472971

2 SubmittersRCV001924072 RCV002407094

NM_000218.3(KCNQ1):c.674C>G (p.Ser225Trp)

SNV
Germline

Chr11:2571394

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379130699

rs_199473456

1 SubmittersRCV001957847

NM_000238.4(KCNH2):c.1289C>A (p.Ala430Asp)

SNV
Germline

Chr7:150952693

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369860057

rs_2116971776

1 SubmittersRCV001966263

NM_000719.7(CACNA1C):c.5330G>A (p.Arg1777His)

SNV
Germline

Chr12:2679682

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6389756

rs_189719120

4 SubmittersRCV001945197 RCV002344025 RCV003479369 RCV004693954

NM_000218.3(KCNQ1):c.700C>T (p.Gln234Ter)

SNV
Germline

Chr11:2572029

Pathogenic

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA379130928

rs_2133730365

2 SubmittersRCV001930382 RCV006550677

NM_000719.7(CACNA1C):c.4943C>T (p.Ala1648Val)

SNV
Germline

Chr12:2677208

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 8
Timothy syndrome
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Brugada syndrome 3
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389646

rs_767199033

4 SubmittersRCV001969031 RCV005008329 RCV006252808 RCV005308634

NM_000218.3(KCNQ1):c.804C>A (p.Ile268=)

SNV
Germline

Chr11:2572869

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA472038139

rs_373227792

3 SubmittersRCV002050342 RCV003591909

NM_000719.7(CACNA1C):c.5987C>T (p.Ala1996Val)

SNV
Germline

Chr12:2688649

Conflicting classifications of pathogenicity

Long QT syndrome
Brugada syndrome 3
Timothy syndrome
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA6390041

rs_749674325

2 SubmittersRCV002036833 RCV002493991

NM_000719.7(CACNA1C):c.5048T>C (p.Met1683Thr)

SNV
Germline

Chr12:2677824

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA383378371

rs_1231959976

3 SubmittersRCV001929482 RCV005629956 RCV004996120

NM_005751.5(AKAP9):c.10643T>C (p.Ile3548Thr)

SNV
Germline

Chr7:92098144

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 11
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337993

rs_146186205

3 SubmittersRCV001949782 RCV002491948 RCV005841901

NM_033337.3(CAV3):c.330C>A (p.Tyr110Ter)

SNV
Germline

Chr3:8745741

Conflicting classifications of pathogenicity

Long QT syndrome
Hypertrophic cardiomyopathy 1

Criteria Provided
Conflicting Classifications

CA351663535

rs_2124988641

2 SubmittersRCV001929607 RCV002051986

NM_000218.3(KCNQ1):c.1603C>A (p.Pro535Thr)

SNV
Germline

Chr11:2775972

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA379139081

rs_2133989242

4 SubmittersRCV002000557 RCV002398049 RCV005432885

NM_005751.5(AKAP9):c.9329G>A (p.Arg3110Lys)

SNV
Germline

Chr7:92089500

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337711

rs_769098388

2 SubmittersRCV001908337 RCV002370452

NM_000719.7(CACNA1C):c.971G>A (p.Arg324Gln)

SNV
Germline

Chr12:2493244

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA383369729

rs_2099740070

3 SubmittersRCV001960388 RCV004043205 RCV006434493

NM_172201.2(KCNE2):c.346G>A (p.Ala116Thr)

SNV
Germline

Chr21:34370824

Conflicting classifications of pathogenicity

Long QT syndrome 6
Cardiovascular phenotype
Atrial fibrillation, familial, 4
Long QT syndrome 6

Criteria Provided
Conflicting Classifications

CA10013444

rs_150790888

3 SubmittersRCV001890849 RCV002458738 RCV002503503

NM_005751.5(AKAP9):c.4414G>A (p.Ala1472Thr)

SNV
Germline

Chr7:92038494

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA161895592

rs_1016368660

2 SubmittersRCV001938413 RCV004631826

NM_003098.3(SNTA1):c.1309G>A (p.Glu437Lys)

SNV
Germline

Chr20:33408817

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 12

Criteria Provided
Conflicting Classifications

CA9816984

rs_371648806

3 SubmittersRCV002014249 RCV002386902 RCV002479775

NM_005751.5(AKAP9):c.4282A>G (p.Ile1428Val)

SNV
Germline

Chr7:92031548

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4336534

rs_368183690

3 SubmittersRCV001935082 RCV002331425 RCV002490204

NM_005751.5(AKAP9):c.6343G>A (p.Ala2115Thr)

SNV
Germline

Chr7:92070042

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337068

rs_761921630

2 SubmittersRCV001991996 RCV002361366

NM_005751.5(AKAP9):c.9970G>A (p.Ala3324Thr)

SNV
Germline

Chr7:92096929

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337876

rs_182048899

3 SubmittersRCV001874225 RCV002261398 RCV002386618

NM_001148.6(ANK2):c.5972G>A (p.Arg1991Gln)

SNV
Germline

Chr4:113354590

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051335

rs_755548985

2 SubmittersRCV001982581 RCV002352630

NM_005751.5(AKAP9):c.6296G>A (p.Arg2099Gln)

SNV
Germline

Chr7:92066512

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368133364

rs_1240091785

2 SubmittersRCV001905329 RCV002361120

NM_000238.4(KCNH2):c.1945+18C>T

SNV
Germline

Chr7:150951430

Conflicting classifications of pathogenicity

Long QT syndrome
Short QT syndrome type 1
Long QT syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA029879

rs_778276270

3 SubmittersRCV001992806 RCV002507667 RCV003331244

NM_001148.6(ANK2):c.4259C>T (p.Thr1420Met)

SNV
Germline

Chr4:113345910

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051033

rs_779367457

3 SubmittersRCV001992374 RCV002331509 RCV002492069

NM_005751.5(AKAP9):c.9376A>G (p.Ile3126Val)

SNV
Germline

Chr7:92093114

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368146487

rs_2130891688

2 SubmittersRCV001910995 RCV002370459

NM_000719.7(CACNA1C):c.6169G>A (p.Glu2057Lys)

SNV
Germline

Chr12:2690951

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6390099

rs_755553231

2 SubmittersRCV001954521 RCV005792215

NM_000219.6(KCNE1):c.106C>G (p.Arg36Gly)

SNV
Germline

Chr21:34449529

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA320425480

rs_372398235

3 SubmittersRCV001931289 RCV005584994 RCV004779205

NM_006888.6(CALM1):c.395A>G (p.Asp132Gly)

SNV
Germline

Chr14:90404488

Pathogenic

Long QT syndrome 14
Catecholaminergic polymorphic ventricular tachycardia 4

Criteria Provided
Single Submitter

CA390690356

rs_1887113791

1 SubmittersRCV001934687

NM_005751.5(AKAP9):c.5779T>C (p.Tyr1927His)

SNV
Germline

Chr7:92062288

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336920

rs_756486044

2 SubmittersRCV001997124 RCV004043870

NM_174934.4(SCN4B):c.463C>T (p.Leu155=)

SNV
Germline

Chr11:118143833

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome 10

Criteria Provided
Conflicting Classifications

CA229488486

rs_761173704

2 SubmittersRCV002331372 RCV001929769

NM_005751.5(AKAP9):c.3164C>A (p.Ser1055Tyr)

SNV
Germline

Chr7:92003081

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336249

rs_373730126

2 SubmittersRCV001914294 RCV002324335

NM_001148.6(ANK2):c.8216C>G (p.Ser2739Cys)

SNV
Germline

Chr4:113356834

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA357933492

rs_1389133986

2 SubmittersRCV001901758 RCV002425217

NM_005751.5(AKAP9):c.7147A>C (p.Ser2383Arg)

SNV
Germline

Chr7:92079280

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337241

rs_765144371

2 SubmittersRCV002003909 RCV004045210

NM_005751.5(AKAP9):c.1276A>G (p.Thr426Ala)

SNV
Germline

Chr7:92001193

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4335993

rs_199780481

2 SubmittersRCV002023537 RCV005841954

NM_000719.7(CACNA1C):c.5716C>T (p.Arg1906Ter)

SNV
Germline

Chr12:2686201

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA231615980

rs_78593627

2 SubmittersRCV001940736 RCV004044033

NM_005751.5(AKAP9):c.10481A>G (p.Asn3494Ser)

SNV
Germline

Chr7:92097668

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368156509

rs_1240295587

2 SubmittersRCV001910704 RCV003382727

NM_005751.5(AKAP9):c.11696C>T (p.Thr3899Ile)

SNV
Germline

Chr7:92110131

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4338287

rs_199577930

2 SubmittersRCV001987862 RCV002331513

NM_001148.6(ANK2):c.9967A>G (p.Ser3323Gly)

SNV
Germline

Chr4:113358585

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3052010

rs_148357205

3 SubmittersRCV001884630 RCV002386675 RCV002482734

NM_003098.3(SNTA1):c.227A>G (p.Gln76Arg)

SNV
Germline

Chr20:33443394

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA313278955

rs_929041171

2 SubmittersRCV001954942 RCV006357094

NM_005751.5(AKAP9):c.9137G>A (p.Arg3046Gln)

SNV
Germline

Chr7:92086340

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337666

rs_142831346

2 SubmittersRCV001945571 RCV002370532

NM_000218.3(KCNQ1):c.973G>T (p.Gly325Trp)

SNV
Germline

Chr11:2583486

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379133026

rs_199472756

1 SubmittersRCV002014518

NM_001148.6(ANK2):c.2761G>A (p.Val921Met)

SNV
Germline

Chr4:113317774

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia, ankyrin-B-related
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3050660

rs_777302517

3 SubmittersRCV001865158 RCV002482555 RCV004996052

NM_001743.6(CALM2):c.388G>A (p.Asp130Asn)

SNV
Germline

Chr2:47161756

Pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA346719068

rs_2103823638

1 SubmittersRCV001922668

NM_005751.5(AKAP9):c.8112A>C (p.Glu2704Asp)

SNV
Germline

Chr7:92082614

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 11
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337416

rs_761783446

3 SubmittersRCV001877329 RCV002506925 RCV005841862

NM_000719.7(CACNA1C):c.6087C>G (p.Phe2029Leu)

SNV
Germline

Chr12:2688749

Conflicting classifications of pathogenicity

Long QT syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA383385410

rs_779215492

3 SubmittersRCV001963408 RCV005405796 RCV006266989

NM_005751.5(AKAP9):c.10315A>G (p.Ile3439Val)

SNV
Germline

Chr7:92097274

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA161897129

rs_1040204302

3 SubmittersRCV002035769 RCV002386893 RCV002492337

NM_001148.6(ANK2):c.3515G>A (p.Ser1172Asn)

SNV
Germline

Chr4:113335981

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3050857

rs_755716405

2 SubmittersRCV002035806 RCV005350862

NM_000719.7(CACNA1C):c.5917C>T (p.Arg1973Trp)

SNV
Germline

Chr12:2688579

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6390028

rs_774402582

2 SubmittersRCV001870858 RCV002359321

NM_005751.5(AKAP9):c.3493C>A (p.His1165Asn)

SNV
Germline

Chr7:92012603

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336316

rs_553209225

2 SubmittersRCV001906110 RCV003382695

NM_005751.5(AKAP9):c.821A>G (p.Gln274Arg)

SNV
Germline

Chr7:91995691

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4335922

rs_371664197

2 SubmittersRCV001989131 RCV003303588

NM_005751.5(AKAP9):c.10904G>A (p.Arg3635Lys)

SNV
Germline

Chr7:92100863

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368159339

rs_1475038289

2 SubmittersRCV002031078 RCV005343280

NM_000238.4(KCNH2):c.1946-1G>C

SNV
Germline

Chr7:150951121

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369857792

rs_794728375

1 SubmittersRCV002031214

NM_000218.3(KCNQ1):c.921+1G>A

SNV
Germline

Chr11:2572987

Pathogenic

Long QT syndrome
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA379131805

rs_397508130

2 SubmittersRCV001895718 RCV003319486

NM_000218.3(KCNQ1):c.959C>T (p.Pro320Leu)

SNV
Germline

Chr11:2583472

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379133003

rs_199473470

1 SubmittersRCV001920661

NM_005751.5(AKAP9):c.392C>T (p.Thr131Ile)

SNV
Germline

Chr7:91992198

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4335795

rs_751675949

2 SubmittersRCV001906342 RCV002370484

NM_000719.7(CACNA1C):c.2664G>A (p.Arg888=)

SNV
Germline

Chr12:2595874

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389036

rs_754046062

3 SubmittersRCV001950059 RCV005865525 RCV005535157

NM_001743.6(CALM2):c.394G>T (p.Asp132Tyr)

SNV
Germline

Chr2:47161750

Pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA346719051

rs_2103823612

1 SubmittersRCV001972345

NM_000238.4(KCNH2):c.2114G>A (p.Trp705Ter)

SNV
Germline

Chr7:150950952

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369857397

rs_2116954443

1 SubmittersRCV001951070

NM_000218.3(KCNQ1):c.386+1G>T

SNV
Germline

Chr11:2445485

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379117891

rs_2133560406

1 SubmittersRCV002036179

NM_005184.4(CALM3):c.390C>G (p.Asp130Glu)

SNV
Germline

Chr19:46608950

Pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA406473547

rs_35617141

1 SubmittersRCV001878519

NM_000890.5(KCNJ5):c.473C>G (p.Thr158Arg)

SNV
Germline

Chr11:128911746

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA6357880

rs_145901904

1 SubmittersRCV001966490

NM_001743.6(CALM2):c.423G>C (p.Glu141Asp)

SNV
Germline

Chr2:47160803

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA346718914

rs_2103821507

1 SubmittersRCV001993477

NM_000238.4(KCNH2):c.3G>A (p.Met1Ile)

SNV
Germline

Chr7:150977911

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369866793

rs_2117072816

1 SubmittersRCV002031801

NM_005751.5(AKAP9):c.8314A>G (p.Ile2772Val)

SNV
Germline

Chr7:92083323

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4337473

rs_759694779

3 SubmittersRCV001911584 RCV002425207 RCV002478315

NM_000238.4(KCNH2):c.2436T>A (p.Tyr812Ter)

SNV
Germline

Chr7:150949012

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369855308

rs_1801032151

1 SubmittersRCV001970040

NM_005751.5(AKAP9):c.7363A>G (p.Ile2455Val)

SNV
Germline

Chr7:92079496

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 11
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA161885427

rs_905116504

3 SubmittersRCV001901313 RCV002507008 RCV005572704

NM_005751.5(AKAP9):c.9425G>T (p.Ser3142Ile)

SNV
Germline

Chr7:92093163

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 11
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337765

rs_148442799

3 SubmittersRCV001901402 RCV002503549 RCV005841881

NM_005751.5(AKAP9):c.6195G>A (p.Met2065Ile)

SNV
Germline

Chr7:92065448

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4337010

rs_369212896

3 SubmittersRCV001909094 RCV002361207 RCV002482800

NM_005751.5(AKAP9):c.970A>G (p.Ile324Val)

SNV
Germline

Chr7:92000887

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA161906591

rs_906395966

2 SubmittersRCV002026161 RCV002372806

NM_000218.3(KCNQ1):c.1733-2A>G

SNV
Germline

Chr11:2777974

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379139559

rs_2133992122

1 SubmittersRCV001920902

NM_005751.5(AKAP9):c.11213C>T (p.Ala3738Val)

SNV
Germline

Chr7:92102709

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA368162423

rs_1157417207

3 SubmittersRCV002019845 RCV002441178 RCV002486609

NM_005751.5(AKAP9):c.3934A>C (p.Thr1312Pro)

SNV
Germline

Chr7:92022334

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4336430

rs_139337441

3 SubmittersRCV001925162 RCV002359390 RCV002490210

NM_001148.6(ANK2):c.6104C>T (p.Pro2035Leu)

SNV
Germline

Chr4:113354722

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051364

rs_151268188

2 SubmittersRCV001939001 RCV004041903

NM_000218.3(KCNQ1):c.302T>A (p.Leu101Ter)

SNV
Germline

Chr11:2445400

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379117340

rs_2133560140

1 SubmittersRCV001953579

NM_174934.4(SCN4B):c.259G>A (p.Glu87Lys)

SNV
Germline

Chr11:118144037

Conflicting classifications of pathogenicity

Long QT syndrome 10
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6300242

rs_762777113

2 SubmittersRCV002005940 RCV002441159

NM_000719.7(CACNA1C):c.3386C>T (p.Thr1129Met)

SNV
Germline

Chr12:2608540

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389230

rs_374549078

2 SubmittersRCV002030253 RCV002458934

NM_005751.5(AKAP9):c.11189A>C (p.Gln3730Pro)

SNV
Germline

Chr7:92102685

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4338104

rs_372297197

2 SubmittersRCV002047242 RCV004996035

NM_003098.3(SNTA1):c.692C>T (p.Pro231Leu)

SNV
Germline

Chr20:33417728

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9817175

rs_559396761

2 SubmittersRCV002049438 RCV004038930

NM_000238.4(KCNH2):c.2115G>A (p.Trp705Ter)

SNV
Germline

Chr7:150950951

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369857393

rs_2116954409

1 SubmittersRCV001903743

NM_000719.7(CACNA1C):c.5852C>G (p.Pro1951Arg)

SNV
Germline

Chr12:2688514

Conflicting classifications of pathogenicity

Long QT syndrome
Brugada syndrome 3
Long QT syndrome 8
Timothy syndrome

Criteria Provided
Conflicting Classifications

CA383384159

rs_762896810

2 SubmittersRCV001981936 RCV002479488

NM_001148.6(ANK2):c.11813A>G (p.Lys3938Arg)

SNV
Germline

Chr4:113373403

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3052380

rs_568549084

2 SubmittersRCV001941127 RCV002334920

NM_005751.5(AKAP9):c.2368A>G (p.Met790Val)

SNV
Germline

Chr7:92002285

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4336127

rs_776190475

3 SubmittersRCV001959837 RCV002442897 RCV002507617

NM_001148.6(ANK2):c.6119G>C (p.Arg2040Thr)

SNV
Germline

Chr4:113354737

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051366

rs_140462708

2 SubmittersRCV001918197 RCV002359404

NM_000238.4(KCNH2):c.2559G>A (p.Trp853Ter)

SNV
Germline

Chr7:150948889

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369854791

rs_2116940231

1 SubmittersRCV001918206

NM_001148.6(ANK2):c.7082A>G (p.His2361Arg)

SNV
Germline

Chr4:113355700

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia, ankyrin-B-related

Criteria Provided
Conflicting Classifications

CA3051527

rs_745718831

3 SubmittersRCV001935831 RCV002361236 RCV002507038

NM_000238.4(KCNH2):c.157G>T (p.Gly53Cys)

SNV
Germline

Chr7:150974861

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA369865785

rs_199472842

2 SubmittersRCV002010371 RCV002398079

NM_001148.6(ANK2):c.4619C>T (p.Ala1540Val)

SNV
Germline

Chr4:113353237

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA103810603

rs_144447291

2 SubmittersRCV001891289 RCV002334820

NM_005751.5(AKAP9):c.7213G>A (p.Ala2405Thr)

SNV
Germline

Chr7:92079346

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA4337251

rs_61746591

3 SubmittersRCV001930946 RCV002370525 RCV002507043

NM_005751.5(AKAP9):c.7783G>T (p.Asp2595Tyr)

SNV
Germline

Chr7:92079916

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337346

rs_754949903

3 SubmittersRCV001948614 RCV002261426 RCV002407108

NM_000719.7(CACNA1C):c.5932G>A (p.Glu1978Lys)

SNV
Germline

Chr12:2688594

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6390035

rs_765320988

2 SubmittersRCV001967560 RCV002352609

NM_000218.3(KCNQ1):c.477+2T>C

SNV
Germline

Chr11:2528020

Pathogenic

Long QT syndrome
Familial prostate cancer

Criteria Provided
Single Submitter

CA379122271

rs_2133650175

2 SubmittersRCV002042088 RCV005922851

NM_000719.7(CACNA1C):c.4074+6C>T

SNV
Germline

Chr12:2651774

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA6389442

rs_762974366

3 SubmittersRCV001881071 RCV002225946 RCV002471175

NM_003098.3(SNTA1):c.551C>T (p.Ser184Leu)

SNV
Germline

Chr20:33417869

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9817194

rs_753294770

2 SubmittersRCV001863530 RCV006352457

NM_005751.5(AKAP9):c.8283C>T (p.Ser2761=)

SNV
Germline

Chr7:92083292

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA456620192

rs_1318456659

3 SubmittersRCV001930269 RCV002425234 RCV002484447

NM_001148.6(ANK2):c.10060C>G (p.Leu3354Val)

SNV
Germline

Chr4:113358678

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA357939594

rs_1564061618

2 SubmittersRCV001930307 RCV002407058

NM_000218.3(KCNQ1):c.794C>A (p.Thr265Asn)

SNV
Germline

Chr11:2572859

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA379131296

rs_199472724

2 SubmittersRCV001983337 RCV002280199

NM_000719.7(CACNA1C):c.6224A>C (p.Glu2075Ala)

SNV
Germline

Chr12:2691006

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6390104

rs_749035949

2 SubmittersRCV002023866 RCV005639390

NM_001148.6(ANK2):c.4777G>T (p.Val1593Phe)

SNV
Germline

Chr4:113353395

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051141

rs_771802296

3 SubmittersRCV001977263 RCV003434375 RCV002334993

NM_000238.4(KCNH2):c.1558-1G>C

SNV
Germline

Chr7:150951836

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369859306

rs_2116964889

1 SubmittersRCV001969463

NM_000218.3(KCNQ1):c.1128+2T>A

SNV
Germline

Chr11:2585309

Pathogenic/Likely pathogenic

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA379133998

rs_2133754863

2 SubmittersRCV002015858 RCV002443029

NM_000218.3(KCNQ1):c.1394-2A>G

SNV
Germline

Chr11:2661959

Pathogenic/Likely pathogenic

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA379479298

rs_2133855926

2 SubmittersRCV002015865 RCV005361911

NM_003098.3(SNTA1):c.419G>C (p.Gly140Ala)

SNV
Germline

Chr20:33438918

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9817231

rs_768194552

4 SubmittersRCV002022416 RCV002331605 RCV002486639 RCV006251102

NM_000238.4(KCNH2):c.917-2A>G

SNV
Germline

Chr7:150957504

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369861979

rs_2116999316

1 SubmittersRCV001988461

NM_000218.3(KCNQ1):c.1018T>C (p.Phe340Leu)

SNV
Germline

Chr11:2583531

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379133117

rs_2133750942

1 SubmittersRCV001976987

NM_005751.5(AKAP9):c.3864G>A (p.Met1288Ile)

SNV
Germline

Chr7:92022264

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 11
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336419

rs_547958010

3 SubmittersRCV001968302 RCV002492147 RCV006357156

NM_005751.5(AKAP9):c.9709C>T (p.Arg3237Trp)

SNV
Germline

Chr7:92095153

Conflicting classifications of pathogenicity

Long QT syndrome
AKAP9-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337824

rs_749167841

3 SubmittersRCV001892481 RCV003416533 RCV005330975

NM_000218.3(KCNQ1):c.349C>A (p.Pro117Thr)

SNV
Germline

Chr11:2445447

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379117626

rs_886037906

1 SubmittersRCV002001638

NM_000218.3(KCNQ1):c.605-1G>A

SNV
Germline

Chr11:2571324

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379130369

rs_1564820372

1 SubmittersRCV001984072

NM_005751.5(AKAP9):c.461C>T (p.Pro154Leu)

SNV
Germline

Chr7:91992940

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4335822

rs_768097461

3 SubmittersRCV002012568 RCV002335030 RCV004694100

NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala)

SNV
Unknown

Chr7:150952585

Pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369859837

rs_1584856497

1 SubmittersRCV002086730

NM_000238.4(KCNH2):c.917-8C>G

SNV
Germline

Chr7:150957510

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA169080948

rs_41313086

3 SubmittersRCV002078199 RCV005401923

NM_000719.7(CACNA1C):c.3159A>G (p.Gly1053=)

SNV
Germline

Chr12:2606613

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 8

Criteria Provided
Conflicting Classifications

CA6389179

rs_764298283

2 SubmittersRCV002085270 RCV002471254

NM_000238.4(KCNH2):c.917-5C>T

SNV
Germline

Chr7:150957507

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1752417040

rs_1563168459

3 SubmittersRCV002106497 RCV005370166

NM_000719.7(CACNA1C):c.2229C>A (p.Ile743=)

SNV
Germline

Chr12:2584507

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6388931

rs_759734767

3 SubmittersRCV002074708 RCV004820236 RCV005239254

NM_000719.7(CACNA1C):c.3210-5C>A

SNV
Germline

Chr12:2606979

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6389198

rs_373331407

2 SubmittersRCV002143246 RCV004990709

NM_005751.5(AKAP9):c.3426T>C (p.Ala1142=)

SNV
Germline

Chr7:92012536

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 11

Criteria Provided
Conflicting Classifications

CA161883817

rs_758236336

2 SubmittersRCV002125159 RCV003138090

NM_000238.4(KCNH2):c.1946-4C>G

SNV
Germline

Chr7:150951124

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA579075442

rs_1169211344

2 SubmittersRCV002112883 RCV003591914

NM_000238.4(KCNH2):c.2607G>T (p.Pro869=)

SNV
Germline

Chr7:150948529

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA458645033

rs_199828796

3 SubmittersRCV002087408 RCV002427531

NM_033337.3(CAV3):c.132G>A (p.Val44=)

SNV
Germline

Chr3:8745543

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA432525583

rs_372754279

3 SubmittersRCV002160341 RCV002382380 RCV005250236

NM_000719.7(CACNA1C):c.1215C>T (p.Ser405=)

SNV
Germline

Chr12:2504943

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6388658

rs_780409021

2 SubmittersRCV002126085 RCV003161615

NM_000238.4(KCNH2):c.2013C>T (p.Ala671=)

SNV
Germline

Chr7:150951053

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA458645435

rs_2116955668

3 SubmittersRCV002146193 RCV003591918

NM_003098.3(SNTA1):c.1115C>T (p.Thr372Met)

SNV
Germline

Chr20:33410257

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA408630725

rs_1275683627

2 SubmittersRCV002224414 RCV006470248

NM_000238.4(KCNH2):c.400G>T (p.Glu134Ter)

SNV
Germline

Chr7:150959644

Likely pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369863736

rs_2117011952

1 SubmittersRCV002244291

NM_000218.3(KCNQ1):c.785T>G (p.Leu262Arg)

SNV
Germline

Chr11:2572850

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA379131260

rs_1564821090

2 SubmittersRCV002247183 RCV003094059

NM_003098.3(SNTA1):c.1033G>A (p.Ala345Thr)

SNV
Germline

Chr20:33412303

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA9817072

rs_150474420

3 SubmittersRCV002254081 RCV002391381 RCV003094165

NM_000218.3(KCNQ1):c.1459G>T (p.Glu487Ter)

SNV
Germline

Chr11:2662026

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA379479619

rs_1205552952

1 SubmittersRCV002287218

NM_000238.4(KCNH2):c.916+1G>A

SNV
Germline

Chr7:150958058

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA369862033

rs_2486087618

3 SubmittersRCV002291860 RCV003355850 RCV005096075

NM_000238.4(KCNH2):c.2398+5G>A

SNV
Unknown

Chr7:150950163

Likely pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369855971

rs_1554425149

1 SubmittersRCV002302843

NM_000218.3(KCNQ1):c.968G>A (p.Trp323Ter)

SNV
Germline

Chr11:2583481

Pathogenic

Long QT syndrome 1

No Assertion Criteria Provided

CA379133015

rs_2493696044

1 SubmittersRCV002308729

NM_005751.5(AKAP9):c.3071T>G (p.Val1024Gly)

SNV
Germline

Chr7:92002988

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336237

rs_762754861

2 SubmittersRCV002319780 RCV003102300

NM_005751.5(AKAP9):c.307-5T>G

SNV
Germline

Chr7:91980284

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA843811378

rs_1238314038

2 SubmittersRCV002319826 RCV003099172

NM_000719.7(CACNA1C):c.3718-5T>C

SNV
Germline

Chr12:2611898

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2012317285

rs_1568789814

3 SubmittersRCV002349053 RCV005058326 RCV005433201

NM_001148.6(ANK2):c.10138G>A (p.Ala3380Thr)

SNV
Germline

Chr4:113358756

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA357939765

rs_1214453791

2 SubmittersRCV002366255 RCV003094410

NM_005751.5(AKAP9):c.4022A>G (p.Gln1341Arg)

SNV
Germline

Chr7:92022883

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336463

rs_762115704

2 SubmittersRCV002375736 RCV003108021

NM_005751.5(AKAP9):c.3782A>G (p.Asn1261Ser)

SNV
Germline

Chr7:92017047

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336397

rs_755453815

2 SubmittersRCV002351147 RCV005096387

NM_005751.5(AKAP9):c.3938A>G (p.Asn1313Ser)

SNV
Germline

Chr7:92022338

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336431

rs_149641207

2 SubmittersRCV002373247 RCV005096442

NM_005751.5(AKAP9):c.3959A>G (p.Asn1320Ser)

SNV
Germline

Chr7:92022820

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336451

rs_370061409

2 SubmittersRCV002357652 RCV003094457

NM_001148.6(ANK2):c.11662A>G (p.Ile3888Val)

SNV
Germline

Chr4:113373141

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3052342

rs_763855448

2 SubmittersRCV002333152 RCV006470675

NM_005751.5(AKAP9):c.4929A>G (p.Ile1643Met)

SNV
Germline

Chr7:92042057

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336696

rs_756131845

2 SubmittersRCV002340743 RCV005096698

NM_005751.5(AKAP9):c.4959G>T (p.Glu1653Asp)

SNV
Germline

Chr7:92042087

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA161897685

rs_745498011

2 SubmittersRCV002342770 RCV005096705

NM_005751.5(AKAP9):c.5163G>A (p.Arg1721=)

SNV
Germline

Chr7:92045008

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA456452893

rs_1806730582

2 SubmittersRCV002338332 RCV005058408

NM_001148.6(ANK2):c.5473C>T (p.Pro1825Ser)

SNV
Germline

Chr4:113354091

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA103812330

rs_750346186

2 SubmittersRCV002349807 RCV003096757

NM_001148.6(ANK2):c.5726A>G (p.Lys1909Arg)

SNV
Germline

Chr4:113354344

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA103812619

rs_868828587

2 SubmittersRCV002347700 RCV003533186

NM_000719.7(CACNA1C):c.6029G>T (p.Arg2010Ile)

SNV
Germline

Chr12:2688691

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA6390056

rs_754647829

2 SubmittersRCV002358144 RCV003103256

NM_000719.7(CACNA1C):c.4609C>T (p.Arg1537Cys)

SNV
Germline

Chr12:2666768

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA383376949

rs_2529919336

4 SubmittersRCV002342427 RCV003775929 RCV004584970

NM_005751.5(AKAP9):c.4614A>G (p.Ile1538Met)

SNV
Germline

Chr7:92038694

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA368129164

rs_1487757753

2 SubmittersRCV002342479 RCV003533177

NM_000238.4(KCNH2):c.462G>A (p.Trp154Ter)

SNV
Germline

Chr7:150959582

Pathogenic

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA369863609

rs_2486099963

2 SubmittersRCV002342559 RCV003096387

NM_001148.6(ANK2):c.5669A>T (p.His1890Leu)

SNV
Germline

Chr4:113354287

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3051270

rs_751507915

2 SubmittersRCV002347341 RCV006470861

NM_001148.6(ANK2):c.11859+2T>G

SNV
Germline

Chr4:113373451

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
ANK2-related disorder
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA357943884

rs_2154075277

4 SubmittersRCV002337819 RCV002463200 RCV003408243 RCV003775964

NM_001148.6(ANK2):c.4799T>C (p.Ile1600Thr)

SNV
Germline

Chr4:113353417

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3051144

rs_764150279

2 SubmittersRCV002330722 RCV003647889

NM_001148.6(ANK2):c.5031G>T (p.Lys1677Asn)

SNV
Germline

Chr4:113353649

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA357917952

rs_1333983188

3 SubmittersRCV002335631 RCV003096577 RCV006270553

NM_174934.4(SCN4B):c.505G>A (p.Val169Ile)

SNV
Germline

Chr11:118141295

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome 10

Criteria Provided
Conflicting Classifications

CA6300182

rs_149457565

2 SubmittersRCV002335782 RCV003096593

NM_005751.5(AKAP9):c.6742G>C (p.Glu2248Gln)

SNV
Germline

Chr7:92076984

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4337151

rs_770443947

2 SubmittersRCV002369198 RCV003098353

NM_000719.7(CACNA1C):c.5213G>A (p.Gly1738Asp)

SNV
Germline

Chr12:2679565

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA383378738

rs_1312429867

2 SubmittersRCV002344277 RCV003647891

NM_000890.5(KCNJ5):c.1198C>A (p.Gln400Lys)

SNV
Germline

Chr11:128916669

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA383236207

rs_1272227612

2 SubmittersRCV002344391 RCV003102713

NM_000719.7(CACNA1C):c.5820G>C (p.Gln1940His)

SNV
Germline

Chr12:2688482

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA6390000

rs_778658338

2 SubmittersRCV002353163 RCV005096850

NM_001148.6(ANK2):c.5828G>A (p.Gly1943Glu)

SNV
Germline

Chr4:113354446

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3051310

rs_764180060

2 SubmittersRCV002353185 RCV005096851

NM_000719.7(CACNA1C):c.65G>A (p.Ser22Asn)

SNV
Germline

Chr12:2115239

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA383652864

rs_769703001

2 SubmittersRCV002364563 RCV003098302

NM_000890.5(KCNJ5):c.1227G>C (p.Leu409=)

SNV
Germline

Chr11:128916698

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA477704236

rs_947811319

2 SubmittersRCV002366767 RCV003098316

NM_005751.5(AKAP9):c.665A>G (p.Asp222Gly)

SNV
Germline

Chr7:91994709

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome 11
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4335878

rs_755797374

3 SubmittersRCV002366884 RCV003224631 RCV005096975

NM_005751.5(AKAP9):c.6946-5A>G

SNV
Germline

Chr7:92079074

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA576705702

rs_1446704941

2 SubmittersRCV002362444 RCV003647903

NM_001148.6(ANK2):c.7228G>C (p.Glu2410Gln)

SNV
Germline

Chr4:113355846

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3051558

rs_764831534

2 SubmittersRCV002370984 RCV003647904

NM_003098.3(SNTA1):c.725A>G (p.Asp242Gly)

SNV
Germline

Chr20:33412759

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA9817154

rs_200777037

2 SubmittersRCV002371138 RCV003098521

NM_000890.5(KCNJ5):c.1253C>T (p.Ser418Leu)

SNV
Germline

Chr11:128916724

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 13
Familial hyperaldosteronism type III

Criteria Provided
Conflicting Classifications

CA6358025

rs_111867535

3 SubmittersRCV002416758 RCV003103455 RCV005050569

NM_005751.5(AKAP9):c.7821A>T (p.Arg2607Ser)

SNV
Germline

Chr7:92079954

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4337354

rs_745346171

2 SubmittersRCV002409995 RCV003103443

NM_005751.5(AKAP9):c.8206G>A (p.Val2736Ile)

SNV
Germline

Chr7:92083215

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4337451

rs_371753464

2 SubmittersRCV002427950 RCV003103485

NM_001148.6(ANK2):c.8209A>C (p.Lys2737Gln)

SNV
Germline

Chr4:113356827

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA357933469

rs_1419902437

2 SubmittersRCV002427952 RCV006469848

NM_005751.5(AKAP9):c.8221G>A (p.Ala2741Thr)

SNV
Germline

Chr7:92083230

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4337456

rs_368001901

2 SubmittersRCV002427992 RCV003099869

NM_001148.6(ANK2):c.6773C>T (p.Thr2258Ile)

SNV
Germline

Chr4:113355391

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA357928115

rs_1387199656

2 SubmittersRCV002369331 RCV005097015

NM_001148.6(ANK2):c.10214T>C (p.Val3405Ala)

SNV
Germline

Chr4:113358832

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA357939932

rs_1437645668

3 SubmittersRCV002409662 RCV005058513 RCV005235655

NM_005751.5(AKAP9):c.8116G>A (p.Ala2706Thr)

SNV
Germline

Chr7:92082618

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA161886897

rs_984927444

2 SubmittersRCV002419543 RCV006469843

NM_005751.5(AKAP9):c.8149G>C (p.Glu2717Gln)

SNV
Germline

Chr7:92082651

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4337421

rs_766108106

2 SubmittersRCV002421383 RCV003099849

NM_001148.6(ANK2):c.9529G>C (p.Asp3177His)

SNV
Germline

Chr4:113358147

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA357937916

rs_1404545085

3 SubmittersRCV002374230 RCV003533216 RCV004587350

NM_001148.6(ANK2):c.7006G>A (p.Ala2336Thr)

SNV
Germline

Chr4:113355624

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA357929077

rs_1564016699

2 SubmittersRCV002364805 RCV006469753

NM_005751.5(AKAP9):c.7702G>A (p.Ala2568Thr)

SNV
Germline

Chr7:92079835

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4337332

rs_762175660

2 SubmittersRCV002400600 RCV006469817

NM_001148.6(ANK2):c.8400T>A (p.Asp2800Glu)

SNV
Germline

Chr4:113357018

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3051765

rs_758707541

2 SubmittersRCV002445835 RCV005058539

NM_001148.6(ANK2):c.8414C>T (p.Pro2805Leu)

SNV
Germline

Chr4:113357032

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3051767

rs_575152865

2 SubmittersRCV002445868 RCV005097231

NM_000890.5(KCNJ5):c.844C>A (p.Gln282Lys)

SNV
Germline

Chr11:128912117

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA230640590

rs_7102584

2 SubmittersRCV002447529 RCV005097242

NM_005751.5(AKAP9):c.9442A>G (p.Thr3148Ala)

SNV
Germline

Chr7:92093180

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4337767

rs_761741274

2 SubmittersRCV002374015 RCV005097336

NM_001148.6(ANK2):c.9808G>T (p.Gly3270Cys)

SNV
Germline

Chr4:113358426

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA103817612

rs_1054393061

2 SubmittersRCV002387247 RCV003647918

NM_000218.3(KCNQ1):c.1515G>A (p.Gln505=)

SNV
Germline

Chr11:2768844

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA472459419

rs_2494120063

2 SubmittersRCV002392308 RCV005097562

NM_005751.5(AKAP9):c.9862T>G (p.Leu3288Val)

SNV
Germline

Chr7:92096821

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4337859

rs_761646754

2 SubmittersRCV002387339 RCV003533220

NM_001148.6(ANK2):c.1645C>T (p.Leu549=)

SNV
Germline

Chr4:113274611

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3050329

rs_576163042

3 SubmittersRCV002394967 RCV003533231 RCV005370215

NM_001148.6(ANK2):c.10578C>G (p.His3526Gln)

SNV
Germline

Chr4:113359196

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3052090

rs_752911811

2 SubmittersRCV002399103 RCV006470981

NM_005751.5(AKAP9):c.1729T>G (p.Ser577Ala)

SNV
Germline

Chr7:92001646

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA368122453

rs_1799200073

2 SubmittersRCV002399157 RCV006559275

NM_005751.5(AKAP9):c.10327T>C (p.Phe3443Leu)

SNV
Germline

Chr7:92097286

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4337925

rs_781744583

2 SubmittersRCV002396575 RCV006559226

NM_005751.5(AKAP9):c.1300C>T (p.Arg434Trp)

SNV
Germline

Chr7:92001217

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4335997

rs_771608420

2 SubmittersRCV002380834 RCV003103637

NM_000218.3(KCNQ1):c.1686G>C (p.Arg562Ser)

SNV
Germline

Chr11:2776986

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Long QT syndrome
Atrial fibrillation, familial, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA379139263

rs_794728535

3 SubmittersRCV002414583 RCV005097681 RCV005235658

NM_005751.5(AKAP9):c.2381A>G (p.His794Arg)

SNV
Germline

Chr7:92002298

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336128

rs_141176252

2 SubmittersRCV002457901 RCV006471223

NM_000238.4(KCNH2):c.1946-5C>T

SNV
Germline

Chr7:150951125

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA030187

rs_776736691

3 SubmittersRCV002413252 RCV003647926 RCV006553301

NM_000238.4(KCNH2):c.2146-1G>C

SNV
Germline

Chr7:150950421

Likely pathogenic

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA369856771

rs_2116950992

2 SubmittersRCV002430615 RCV003101082

NM_174934.4(SCN4B):c.223G>A (p.Ala75Thr)

SNV
Germline

Chr11:118145068

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome 10

Criteria Provided
Conflicting Classifications

CA382778516

rs_1265062815

2 SubmittersRCV002428353 RCV006471180

NM_000238.4(KCNH2):c.2351G>A (p.Arg784Gln)

SNV
Germline

Chr7:150950215

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA031701

rs_149588350

4 SubmittersRCV002448419 RCV003533255 RCV003324857

NM_005751.5(AKAP9):c.2362G>A (p.Glu788Lys)

SNV
Germline

Chr7:92002279

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336122

rs_745858523

2 SubmittersRCV002450120 RCV003775209

NM_000219.6(KCNE1):c.265G>A (p.Glu89Lys)

SNV
Germline

Chr21:34449370

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA410198149

rs_1256155089

3 SubmittersRCV002428735 RCV003775329 RCV004779342

NM_001148.6(ANK2):c.2770G>T (p.Asp924Tyr)

SNV
Germline

Chr4:113317783

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

CA3050662

rs_770636500

3 SubmittersRCV002439621 RCV003102196 RCV003994438

NM_001148.6(ANK2):c.3058A>G (p.Met1020Val)

SNV
Germline

Chr4:113330403

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3050761

rs_747229863

2 SubmittersRCV002444167 RCV003103008

NM_000238.4(KCNH2):c.1015A>T (p.Asn339Tyr)

SNV
Germline

Chr7:150957404

Likely pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369861649

rs_2486081957

1 SubmittersRCV002471651

NM_000238.4(KCNH2):c.1934T>G (p.Met645Arg)

SNV
Germline

Chr7:150951459

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369857819

rs_2486035570

1 SubmittersRCV003037269

NM_000238.4(KCNH2):c.529G>T (p.Glu177Ter)

SNV
Germline

Chr7:150958446

Pathogenic

Long QT syndrome
Long QT syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA369863421

rs_2486094630

2 SubmittersRCV003037272 RCV003395570

NM_005184.4(CALM3):c.426T>G (p.Phe142Leu)

SNV
Germline

Chr19:46609129

Pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA406473897

rs_2513646355

1 SubmittersRCV003064591

NM_005751.5(AKAP9):c.11611G>A (p.Asp3871Asn)

SNV
Germline

Chr7:92108558

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4338238

rs_376870775

2 SubmittersRCV003067382 RCV005575069

NM_005751.5(AKAP9):c.2227C>A (p.Gln743Lys)

SNV
Germline

Chr7:92002144

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA161907723

rs_933536639

2 SubmittersRCV003050966 RCV003383002

NM_005751.5(AKAP9):c.5039A>G (p.Asn1680Ser)

SNV
Germline

Chr7:92042167

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336714

rs_764164178

2 SubmittersRCV003073768 RCV003383004

NM_003098.3(SNTA1):c.989C>T (p.Thr330Ile)

SNV
Germline

Chr20:33412347

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9817086

rs_546104057

2 SubmittersRCV003062951 RCV004070334

NM_000218.3(KCNQ1):c.775C>G (p.Arg259Gly)

SNV
Germline

Chr11:2572104

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379131099

rs_199472719

1 SubmittersRCV003058273

NM_000218.3(KCNQ1):c.1032+1G>T

SNV
Germline

Chr11:2583546

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379133136

rs_397508070

1 SubmittersRCV003062314

NM_005751.5(AKAP9):c.11259G>C (p.Glu3753Asp)

SNV
Germline

Chr7:92102755

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4338128

rs_778568641

2 SubmittersRCV003085511 RCV004632176

NM_001148.6(ANK2):c.6628G>A (p.Val2210Ile)

SNV
Germline

Chr4:113355246

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA103813570

rs_370296970

2 SubmittersRCV003075478 RCV004636648

NM_000218.3(KCNQ1):c.1962G>C (p.Leu654=)

SNV
Germline

Chr11:2847934

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA033979

rs_749198171

3 SubmittersRCV003081480 RCV003367977

NM_000238.4(KCNH2):c.225G>A (p.Gln75=)

SNV
Germline

Chr7:150974793

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA458871875

rs_1801933890

4 SubmittersRCV003090140 RCV004073143 RCV003591982

NM_005751.5(AKAP9):c.10793A>G (p.His3598Arg)

SNV
Germline

Chr7:92099766

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4338026

rs_755110736

2 SubmittersRCV002650962 RCV005333542

NM_005751.5(AKAP9):c.8150A>G (p.Glu2717Gly)

SNV
Germline

Chr7:92082652

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337422

rs_751090118

2 SubmittersRCV002633411 RCV003294575

NM_001148.6(ANK2):c.11110G>A (p.Glu3704Lys)

SNV
Germline

Chr4:113367643

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA103822864

rs_886965541

2 SubmittersRCV002633580 RCV003340643

NM_000719.7(CACNA1C):c.6391A>G (p.Ser2131Gly)

SNV
Germline

Chr12:2691173

Conflicting classifications of pathogenicity

Long QT syndrome
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures

Criteria Provided
Conflicting Classifications

CA383387857

rs_1337865963

2 SubmittersRCV002647484 RCV004763546

NM_000238.4(KCNH2):c.699G>T (p.Ala233=)

SNV
Germline

Chr7:150958276

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA458872232

rs_1242612823

2 SubmittersRCV002576289 RCV005585161

NM_001148.6(ANK2):c.1450C>T (p.Leu484=)

SNV
Germline

Chr4:113264960

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA440838547

rs_2493689253

2 SubmittersRCV002642461 RCV004990818

NM_001148.6(ANK2):c.9715G>A (p.Val3239Ile)

SNV
Germline

Chr4:113358333

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3051973

rs_778612815

2 SubmittersRCV003375665 RCV002685378

NM_000238.4(KCNH2):c.3022C>T (p.Gln1008Ter)

SNV
Germline

Chr7:150947458

Pathogenic/Likely pathogenic

Long QT syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA369852907

rs_2486005034

2 SubmittersRCV002727196 RCV003443073

NM_005751.5(AKAP9):c.6330+7A>G

SNV
Germline

Chr7:92066553

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA843822575

rs_1235885918

2 SubmittersRCV002760924 RCV004598217

NM_001148.6(ANK2):c.9991T>C (p.Ser3331Pro)

SNV
Germline

Chr4:113358609

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA357939439

rs_1168752344

3 SubmittersRCV002765965 RCV003138345 RCV003167709

NM_005751.5(AKAP9):c.10073G>A (p.Arg3358His)

SNV
Germline

Chr7:92097032

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337893

rs_776193956

2 SubmittersRCV002776076 RCV004064757

NM_000218.3(KCNQ1):c.1559T>A (p.Met520Lys)

SNV
Germline

Chr11:2768888

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379138972

rs_199473479

1 SubmittersRCV002824447

NM_000218.3(KCNQ1):c.1032+1G>C

SNV
Germline

Chr11:2583546

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379133135

rs_397508070

1 SubmittersRCV002856814

NM_000218.3(KCNQ1):c.1240A>T (p.Lys414Ter)

SNV
Germline

Chr11:2587681

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379134861

rs_2493705809

1 SubmittersRCV002857006

NM_000218.3(KCNQ1):c.1166C>T (p.Ser389Phe)

SNV
Germline

Chr11:2587607

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA379134716

rs_199472773

2 SubmittersRCV002894309 RCV004990890

NM_000238.4(KCNH2):c.1703G>A (p.Trp568Ter)

SNV
Germline

Chr7:150951690

Pathogenic

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA369858725

rs_1554425880

2 SubmittersRCV002917679 RCV005405942

NM_000218.3(KCNQ1):c.332A>C (p.Tyr111Ser)

SNV
Germline

Chr11:2445430

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379117524

rs_199472678

1 SubmittersRCV002877295

NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala)

SNV
Germline

Chr7:150951556

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369857978

rs_794728485

1 SubmittersRCV002914134

NM_005751.5(AKAP9):c.9830T>G (p.Ile3277Arg)

SNV
Germline

Chr7:92096789

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337853

rs_144021475

2 SubmittersRCV002914653 RCV003382971

NM_000719.7(CACNA1C):c.5347G>A (p.Gly1783Ser)

SNV
Germline

Chr12:2679699

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6389761

rs_781633980

2 SubmittersRCV002938143 RCV006449045

NM_000238.4(KCNH2):c.1624T>C (p.Tyr542His)

SNV
Germline

Chr7:150951769

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369859061

rs_2486039696

1 SubmittersRCV002938185

NM_001148.6(ANK2):c.483+1G>A

SNV
Germline

Chr4:113232260

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA3050036

rs_763130672

1 SubmittersRCV003033731

NM_006888.6(CALM1):c.286G>T (p.Asp96Tyr)

SNV
Germline

Chr14:90404379

Pathogenic

Long QT syndrome 14
Catecholaminergic polymorphic ventricular tachycardia 4

Criteria Provided
Single Submitter

CA390690100

rs_2503459594

1 SubmittersRCV003025983

NM_000218.3(KCNQ1):c.959C>G (p.Pro320Arg)

SNV
Germline

Chr11:2583472

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA379133002

rs_199473470

2 SubmittersRCV003051741 RCV003134591

NM_000238.4(KCNH2):c.2593-1G>C

SNV
Germline

Chr7:150948544

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369853977

rs_2486013081

1 SubmittersRCV003055869

NM_000238.4(KCNH2):c.1905C>A (p.Asn635Lys)

SNV
Germline

Chr7:150951488

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369857871

rs_199472965

1 SubmittersRCV003025370

NM_000218.3(KCNQ1):c.947G>C (p.Gly316Ala)

SNV
Germline

Chr11:2583460

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379132983

rs_199472749

1 SubmittersRCV003044588

NM_000719.7(CACNA1C):c.5657G>A (p.Gly1886Asp)

SNV
Germline

Chr12:2685819

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA6389917

rs_748198629

2 SubmittersRCV004182568 RCV006612768

NM_000218.3(KCNQ1):c.319C>T (p.Gln107Ter)

SNV
Germline

Chr11:2445417

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA379117442

rs_1462285903

2 SubmittersRCV003146792 RCV006473714

NM_000218.3(KCNQ1):c.535G>C (p.Gly179Arg)

SNV
Germline

Chr11:2570685

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA379129898

rs_199473394

1 SubmittersRCV003159082

NM_001148.6(ANK2):c.10951A>G (p.Thr3651Ala)

SNV
Germline

Chr4:113365101

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3052171

rs_754847234

2 SubmittersRCV003177081 RCV006473831

NM_000219.6(KCNE1):c.343A>G (p.Ile115Val)

SNV
Germline

Chr21:34449292

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA410197980

rs_2123456785

3 SubmittersRCV003182886 RCV003647961 RCV004779503

NM_005751.5(AKAP9):c.1096A>T (p.Ile366Phe)

SNV
Germline

Chr7:92001013

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA368120999

rs_1165716443

2 SubmittersRCV003171756 RCV006561139

NM_000719.7(CACNA1C):c.3462C>A (p.Ala1154=)

SNV
Germline

Chr12:2608616

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA477901995

rs_1168511209

3 SubmittersRCV003177442 RCV003443178 RCV005061033

NM_005751.5(AKAP9):c.9698G>A (p.Arg3233His)

SNV
Germline

Chr7:92095142

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4337822

rs_546024452

2 SubmittersRCV004259637 RCV006473968

NM_000218.3(KCNQ1):c.387-6394G>C

SNV
Germline

Chr11:2521534

Conflicting classifications of pathogenicity

Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3
Short QT syndrome type 2
not specified

Criteria Provided
Conflicting Classifications

CA036815

rs_528825731

2 SubmittersRCV003224696 RCV005406010

NM_001743.6(CALM2):c.313G>C (p.Glu105Gln)

SNV
Germline

Chr2:47161831

Likely pathogenic

Long QT syndrome 15

Criteria Provided
Single Submitter

CA346719247

rs_2465707237

1 SubmittersRCV003224832

NM_000218.3(KCNQ1):c.1781G>T (p.Arg594Leu)

SNV
Germline

Chr11:2778024

Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA379139775

rs_199472815

2 SubmittersRCV003229375 RCV005102440

NM_000218.3(KCNQ1):c.1579A>G (p.Lys527Glu)

SNV
Germline

Chr11:2768908

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379139015

rs_2494120459

1 SubmittersRCV003318431

NM_005751.5(AKAP9):c.1361G>A (p.Arg454Lys)

SNV
Germline

Chr7:92001278

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368121607

rs_2484689730

2 SubmittersRCV003318433 RCV004992589

NM_002471.4(MYH6):c.1962+2T>C

SNV
Germline

Chr14:23397541

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA389019614

rs_1404787586

1 SubmittersRCV003318434

NM_000218.3(KCNQ1):c.817C>A (p.Leu273Ile)

SNV
Germline

Chr11:2572882

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379131383

rs_120074180

1 SubmittersRCV003318442

NM_000238.4(KCNH2):c.1694C>G (p.Ala565Gly)

SNV
Germline

Chr7:150951699

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369858758

rs_794728482

1 SubmittersRCV003318461

NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter)

SNV
Germline

Chr11:2585297

Likely pathogenic

Long QT syndrome 1

No Assertion Criteria Provided

CA379133946

rs_1564825392

1 SubmittersRCV003485922

NM_000335.5(SCN5A):c.3388-1G>C

SNV
Germline

Chr3:38576782

Likely pathogenic

Brugada syndrome 1
Long QT syndrome 3

No Assertion Criteria Provided

CA352138578

rs_2125864009

1 SubmittersRCV003492862

NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter)

SNV
Germline

Chr3:38620950

Likely pathogenic

Brugada syndrome 1
Long QT syndrome 3

No Assertion Criteria Provided

CA352153950

rs_1435536418

1 SubmittersRCV003492863

NM_000218.3(KCNQ1):c.910T>G (p.Trp304Gly)

SNV
Germline

Chr11:2572975

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA379131753

rs_199473466

1 SubmittersRCV003319960

NM_000218.3(KCNQ1):c.1020T>G (p.Phe340Leu)

SNV
Germline

Chr11:2583533

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA379133122

rs_2493696301

1 SubmittersRCV003319961

NM_000218.3(KCNQ1):c.785T>A (p.Leu262Gln)

SNV
Germline

Chr11:2572850

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA379131257

rs_1564821090

1 SubmittersRCV003319962

NM_000218.3(KCNQ1):c.1794+1G>A

SNV
Germline

Chr11:2778038

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA379139823

rs_2494146132

1 SubmittersRCV003319963

NM_000218.3(KCNQ1):c.387-1G>C

SNV
Germline

Chr11:2527927

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA379121099

rs_2493591370

1 SubmittersRCV003319967

NM_000719.7(CACNA1C):c.4100T>C (p.Ile1367Thr)

SNV
Germline

Chr12:2653860

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA383373970

rs_2528051488

2 SubmittersRCV003321399 RCV005102897

NM_000719.7(CACNA1C):c.304C>T (p.Arg102Ter)

SNV
Germline

Chr12:2115478

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures

Criteria Provided
Conflicting Classifications

CA383653356

rs_1555193345

3 SubmittersRCV003332877 RCV003647979 RCV004555911

NM_001148.6(ANK2):c.3655A>G (p.Ile1219Val)

SNV
Germline

Chr4:113336640

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA357938405

rs_1162544118

3 SubmittersRCV003349131 RCV003533852 RCV004763660

NM_001148.6(ANK2):c.3984C>G (p.Ala1328=)

SNV
Germline

Chr4:113341778

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA3050969

rs_771705870

3 SubmittersRCV003377505 RCV004765811 RCV006472560

NM_005751.5(AKAP9):c.4044C>T (p.Ser1348=)

SNV
Germline

Chr7:92022905

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA456450898

rs_2484750502

2 SubmittersRCV003382257 RCV006472597

NM_000719.7(CACNA1C):c.59A>G (p.Tyr20Cys)

SNV
Germline

Chr12:2115233

Conflicting classifications of pathogenicity

CACNA1C-related disorder
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA383652853

rs_1267845940

2 SubmittersRCV003404289 RCV003533858

NM_000219.6(KCNE1):c.293G>C (p.Arg98Pro)

SNV
Germline

Chr21:34449342

Conflicting classifications of pathogenicity

KCNE1-related disorder
Long QT syndrome 5
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA410198089

rs_150454912

3 SubmittersRCV003404483 RCV004780549 RCV006472654

NM_000719.7(CACNA1C):c.3085A>G (p.Ile1029Val)

SNV
Germline

Chr12:2605715

Conflicting classifications of pathogenicity

Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Timothy syndrome
Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA383374152

rs_2518132100

4 SubmittersRCV003447775 RCV003492878 RCV005100103 RCV006342977

NM_000238.4(KCNH2):c.1754G>A (p.Trp585Ter)

SNV
Germline

Chr7:150951639

Likely pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369858131

rs_794728484

1 SubmittersRCV003448552

NM_174934.4(SCN4B):c.584G>A (p.Arg195Gln)

SNV
Germline

Chr11:118141216

Conflicting classifications of pathogenicity

Long QT syndrome 10
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6300163

rs_755915465

2 SubmittersRCV003498277 RCV004661672

NM_000719.7(CACNA1C):c.3484G>A (p.Val1162Met)

SNV
Germline

Chr12:2608638

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA383375517

rs_2076324884

3 SubmittersRCV003534107 RCV005537596 RCV005001386

NM_000218.3(KCNQ1):c.913T>A (p.Trp305Arg)

SNV
Germline

Chr11:2572978

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379131765

rs_199472741

1 SubmittersRCV003534186

NM_000218.3(KCNQ1):c.503G>A (p.Gly168Glu)

SNV
Germline

Chr11:2570653

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA379129841

rs_2493667489

2 SubmittersRCV003534205 RCV004369132

NM_001148.6(ANK2):c.6142C>G (p.Gln2048Glu)

SNV
Germline

Chr4:113354760

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051370

rs_769677208

2 SubmittersRCV003534255 RCV006343029

NM_005751.5(AKAP9):c.7526G>A (p.Ser2509Asn)

SNV
Germline

Chr7:92079659

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368135924

rs_1813193919

2 SubmittersRCV003531429 RCV005575187

NM_000218.3(KCNQ1):c.1733-10T>A

SNV
Germline

Chr11:2777966

Conflicting classifications of pathogenicity

Long QT syndrome

Criteria Provided
Conflicting Classifications

CA2574728526

rs_2133992099

2 SubmittersRCV003531507

NM_000218.3(KCNQ1):c.477+1G>C

SNV
Germline

Chr11:2528019

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379122251

rs_762814879

1 SubmittersRCV003534268

NM_001148.6(ANK2):c.9789G>T (p.Arg3263Ser)

SNV
Germline

Chr4:113358407

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051981

rs_765175059

2 SubmittersRCV003531497 RCV005662667

NM_005751.5(AKAP9):c.9478G>A (p.Val3160Met)

SNV
Germline

Chr7:92093216

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368148115

rs_1315830175

2 SubmittersRCV003534233 RCV005335799

NM_001743.6(CALM2):c.268T>C (p.Phe90Leu)

SNV
Germline

Chr2:47162303

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA346719361

rs_2465708816

1 SubmittersRCV003501689

NM_000218.3(KCNQ1):c.839T>C (p.Val280Ala)

SNV
Germline

Chr11:2572904

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379131479

rs_199473462

1 SubmittersRCV003531560

NM_000238.4(KCNH2):c.3153-1G>C

SNV
Germline

Chr7:150947055

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369852418

rs_2486001553

1 SubmittersRCV003531684

NM_000218.3(KCNQ1):c.527G>C (p.Trp176Ser)

SNV
Germline

Chr11:2570677

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379129883

rs_2493667659

1 SubmittersRCV003531724

NM_000238.4(KCNH2):c.2399-2A>G

SNV
Germline

Chr7:150949051

Pathogenic/Likely pathogenic

Long QT syndrome
Condition: not provided
Long QT syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA369855409

rs_2486016384

3 SubmittersRCV003531545 RCV005001397 RCV004999966

NM_000238.4(KCNH2):c.172G>T (p.Glu58Ter)

SNV
Germline

Chr7:150974846

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369865747

rs_199473413

1 SubmittersRCV003531706

NM_000218.3(KCNQ1):c.386+2T>G

SNV
Germline

Chr11:2445486

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379117895

rs_2496743195

1 SubmittersRCV003531748

NM_000238.4(KCNH2):c.1915A>T (p.Ile639Phe)

SNV
Germline

Chr7:150951478

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA369857852

rs_2486035827

2 SubmittersRCV003531732 RCV006435343

NM_000238.4(KCNH2):c.1626C>A (p.Tyr542Ter)

SNV
Germline

Chr7:150951767

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369859049

rs_1213743769

1 SubmittersRCV003531741

NM_000218.3(KCNQ1):c.1795-3C>T

SNV
Germline

Chr11:2847764

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA597432739

rs_1245995530

2 SubmittersRCV003532529 RCV005402050

NM_000218.3(KCNQ1):c.1634A>T (p.Tyr545Phe)

SNV
Germline

Chr11:2776003

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379139149

rs_2494138876

1 SubmittersRCV003532506

NM_000238.4(KCNH2):c.2453C>G (p.Ser818Trp)

SNV
Germline

Chr7:150948995

Likely pathogenic

Cardiac arrhythmia
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA369855233

rs_121912510

2 SubmittersRCV003592261 RCV004011468

NM_000218.3(KCNQ1):c.1252-1G>A

SNV
Germline

Chr11:2588712

Likely pathogenic

Cardiac arrhythmia
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA379134890

rs_1848628661

3 SubmittersRCV003592299 RCV004011474

NM_000218.3(KCNQ1):c.1393+1G>A

SNV
Germline

Chr11:2588855

Likely pathogenic

Cardiac arrhythmia
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA379135243

rs_1848633109

2 SubmittersRCV003592303 RCV004011476

NM_000218.3(KCNQ1):c.1480G>T (p.Glu494Ter)

SNV
Germline

Chr11:2662047

Pathogenic/Likely pathogenic

Cardiac arrhythmia
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA379479719

rs_2493870388

2 SubmittersRCV003592305 RCV004011477

NM_000218.3(KCNQ1):c.355G>A (p.Gly119Ser)

SNV
Germline

Chr11:2445453

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379117655

rs_1325525794

1 SubmittersRCV003647508

NM_000238.4(KCNH2):c.1260C>G (p.Tyr420Ter)

SNV
Germline

Chr7:150952722

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369860104

rs_2486049484

1 SubmittersRCV003647711

NM_000218.3(KCNQ1):c.915G>C (p.Trp305Cys)

SNV
Germline

Chr11:2572980

Likely pathogenic

Long QT syndrome
Long QT syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA379131774

rs_1488745091

2 SubmittersRCV003648399 RCV005623110

NM_000238.4(KCNH2):c.688G>T (p.Glu230Ter)

SNV
Germline

Chr7:150958287

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369862828

rs_2486091720

1 SubmittersRCV003648353

NM_033337.3(CAV3):c.263G>A (p.Trp88Ter)

SNV
Germline

Chr3:8745674

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA351663391

rs_2470062381

1 SubmittersRCV003648589

NM_005751.5(AKAP9):c.3256G>A (p.Ala1086Thr)

SNV
Germline

Chr7:92003173

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336261

rs_754329751

2 SubmittersRCV003648644 RCV004992732

NM_005751.5(AKAP9):c.3853A>G (p.Thr1285Ala)

SNV
Germline

Chr7:92022253

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336417

rs_765976119

2 SubmittersRCV003648648 RCV004373902

NM_000238.4(KCNH2):c.268G>T (p.Glu90Ter)

SNV
Germline

Chr7:150974750

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369865409

rs_777810074

1 SubmittersRCV003648709

NM_005751.5(AKAP9):c.7616A>G (p.Lys2539Arg)

SNV
Germline

Chr7:92079749

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337315

rs_776353922

2 SubmittersRCV003648778 RCV004374003

NM_000218.3(KCNQ1):c.1015T>C (p.Phe339Leu)

SNV
Germline

Chr11:2583528

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA379133111

rs_2133750928

3 SubmittersRCV003648885 RCV004374146 RCV005433449

NM_000218.3(KCNQ1):c.102C>A (p.Cys34Ter)

SNV
Germline

Chr11:2445200

Pathogenic/Likely pathogenic

Long QT syndrome
Congenital long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA216292555

rs_915283074

2 SubmittersRCV003648895 RCV004018005

NM_000218.3(KCNQ1):c.728G>T (p.Arg243Leu)

SNV
Germline

Chr11:2572057

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379130975

rs_120074196

1 SubmittersRCV003648949

NM_000238.4(KCNH2):c.3208C>T (p.Gln1070Ter)

SNV
Germline

Chr7:150946999

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA369852240

rs_2486001146

1 SubmittersRCV003648968

NM_003098.3(SNTA1):c.616C>T (p.Pro206Ser)

SNV
Germline

Chr20:33417804

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9817185

rs_745916117

3 SubmittersRCV003649020 RCV004374279 RCV004721219

NM_005751.5(AKAP9):c.9952A>G (p.Arg3318Gly)

SNV
Germline

Chr7:92096911

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368152232

rs_2535299890

2 SubmittersRCV003649032 RCV005335895

NM_000238.4(KCNH2):c.77-7C>A

SNV
Germline

Chr7:150974948

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA040629

rs_374867768

3 SubmittersRCV003828532 RCV006548926

NM_005751.5(AKAP9):c.8134G>A (p.Ala2712Thr)

SNV
Germline

Chr7:92082636

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368137426

rs_1813783655

2 SubmittersRCV003826481 RCV004634365

NM_005751.5(AKAP9):c.3240G>T (p.Lys1080Asn)

SNV
Germline

Chr7:92003157

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336257

rs_767204829

2 SubmittersRCV003824894 RCV004366757

NM_005751.5(AKAP9):c.4408A>G (p.Asn1470Asp)

SNV
Germline

Chr7:92038488

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368128684

rs_2484807687

2 SubmittersRCV003836770 RCV005575246

NM_000238.4(KCNH2):c.3153-5C>T

SNV
Germline

Chr7:150947059

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA037605

rs_533103813

2 SubmittersRCV003832188 RCV005363285

NM_000238.4(KCNH2):c.2796C>T (p.Ser932=)

SNV
Germline

Chr7:150947775

Conflicting classifications of pathogenicity

Long QT syndrome

Criteria Provided
Conflicting Classifications

CA458871124

rs_1267658847

2 SubmittersRCV003851090

NM_000218.3(KCNQ1):c.911G>T (p.Trp304Leu)

SNV
Germline

Chr11:2572976

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA379131760

rs_2133733048

1 SubmittersRCV003842940

NM_000238.4(KCNH2):c.396G>T (p.Val132=)

SNV
Germline

Chr7:150959648

Conflicting classifications of pathogenicity

Long QT syndrome

Criteria Provided
Conflicting Classifications

CA458646924

rs_1410993219

2 SubmittersRCV003859783

NM_000218.3(KCNQ1):c.1795-14C>G

SNV
Germline

Chr11:2847753

Conflicting classifications of pathogenicity

Long QT syndrome

Criteria Provided
Conflicting Classifications

CA1948349574

rs_1848360692

2 SubmittersRCV003865259

NM_005751.5(AKAP9):c.4631G>C (p.Cys1544Ser)

SNV
Germline

Chr7:92038711

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4336600

rs_557980103

2 SubmittersRCV003869394 RCV004992923

NM_005751.5(AKAP9):c.7618A>G (p.Ile2540Val)

SNV
Germline

Chr7:92079751

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4337316

rs_568497742

2 SubmittersRCV003869396 RCV004992924

NM_005751.5(AKAP9):c.7459G>C (p.Glu2487Gln)

SNV
Germline

Chr7:92079592

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA368135780

rs_1188686549

2 SubmittersRCV003878080 RCV004369577

NM_001148.6(ANK2):c.11694+1G>T

SNV
Germline

Chr4:113373174

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

CA357943502

rs_1398611672

1 SubmittersRCV003882549

NM_000335.5(SCN5A):c.1890+2T>G

SNV
Germline

Chr3:38603710

Pathogenic

Long QT syndrome 3

Criteria Provided
Single Submitter

CA352145755

rs_2471745691

1 SubmittersRCV003887829

NM_000335.5(SCN5A):c.4414T>A (p.Phe1472Ile)

SNV
Germline

Chr3:38556461

Likely pathogenic

Brugada syndrome 1
Long QT syndrome 3

Criteria Provided
Single Submitter

CA352145255

rs_1057523393

1 SubmittersRCV003986005

NM_000238.4(KCNH2):c.1663T>C (p.Cys555Arg)

SNV
Germline

Chr7:150951730

Likely pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369858884

rs_2486039255

1 SubmittersRCV003988816

NM_000238.4(KCNH2):c.1863C>A (p.Ser621Arg)

SNV
Germline

Chr7:150951530

Pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

CA369857928

rs_199472949

1 SubmittersRCV003991173

NM_000238.4(KCNH2):c.3198G>T (p.Leu1066=)

SNV
Germline

Chr7:150947009

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA458644741

rs_1217128941

3 SubmittersRCV003993245 RCV005064939 RCV006550931

NM_000335.5(SCN5A):c.5899A>G (p.Ile1967Val)

SNV
Germline

Chr3:38550470

Conflicting classifications of pathogenicity

Cardiac arrhythmia
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA064971

rs_759094008

3 SubmittersRCV004006197 RCV003994615

NM_000218.3(KCNQ1):c.1733-9C>G

SNV
Germline

Chr11:2777967

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA2574728527

rs_897070017

2 SubmittersRCV004014971 RCV005403393

NM_000238.4(KCNH2):c.2687A>G (p.Asp896Gly)

SNV
Germline

Chr7:150948449

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA034162

rs_757676104

2 SubmittersRCV004014175 RCV004371990

NM_000335.5(SCN5A):c.4719G>C (p.Glu1573Asp)

SNV
Germline

Chr3:38554370

Conflicting classifications of pathogenicity

Cardiac arrhythmia
Long QT syndrome 3
Brugada syndrome 1
Ventricular fibrillation, paroxysmal familial, type 1

Criteria Provided
Conflicting Classifications

CA352143763

rs_1057523731

2 SubmittersRCV004016203 RCV005626876

NM_000238.4(KCNH2):c.1902C>T (p.Thr634=)

SNV
Germline

Chr7:150951491

Conflicting classifications of pathogenicity

Long QT syndrome

Criteria Provided
Conflicting Classifications

CA458871465

rs_1213826124

2 SubmittersRCV004015358

NM_000238.4(KCNH2):c.2354G>A (p.Gly785Asp)

SNV
Germline

Chr7:150950212

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA369856057

rs_199472996

2 SubmittersRCV004015744 RCV006551144

NM_000219.6(KCNE1):c.61G>A (p.Val21Ile)

SNV
Germline

Chr21:34449574

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome 5
Long QT syndrome
Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2

Criteria Provided
Conflicting Classifications

CA410198554

rs_1308048353

4 SubmittersRCV004522761 RCV004780727 RCV005100687 RCV005392819

NM_000238.4(KCNH2):c.297C>G (p.Tyr99Ter)

SNV
Germline

Chr7:150974721

Pathogenic

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA369865298

rs_1197382689

2 SubmittersRCV004522845 RCV005100693

NM_005751.5(AKAP9):c.5281A>G (p.Ser1761Gly)

SNV
Germline

Chr7:92045126

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4336762

rs_377264390

2 SubmittersRCV004521755 RCV005059450

NM_005751.5(AKAP9):c.554A>G (p.Tyr185Cys)

SNV
Germline

Chr7:91993033

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA4335840

rs_199631609

2 SubmittersRCV004521759 RCV006488738

NM_005751.5(AKAP9):c.8402A>G (p.Asn2801Ser)

SNV
Germline

Chr7:92083411

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA368138806

rs_2535258525

2 SubmittersRCV004523750 RCV006488741

NM_000719.7(CACNA1C):c.6268C>G (p.Pro2090Ala)

SNV
Germline

Chr12:2691050

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA383386794

rs_2097780990

2 SubmittersRCV004520927 RCV006613341

NM_000719.7(CACNA1C):c.1552C>A (p.Arg518Ser)

SNV
Unknown

Chr12:2566465

Likely pathogenic

Timothy syndrome
Long QT syndrome

No Assertion Criteria Provided

CA383368477

rs_786205748

1 SubmittersRCV004527557

NM_000218.3(KCNQ1):c.1771C>A (p.Arg591Ser)

SNV
Germline

Chr11:2778014

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

CA379139740

rs_199473483

1 SubmittersRCV004555195

NM_000238.4(KCNH2):c.124A>T (p.Ile42Phe)

SNV
Germline

Chr7:150974894

Conflicting classifications of pathogenicity

Long QT syndrome 2
Long QT syndrome

Criteria Provided
Conflicting Classifications

rs_1801940339

2 SubmittersRCV004556941 RCV005100831

NM_000719.7(CACNA1C):c.4243G>A (p.Gly1415Arg)

SNV
Germline

Chr12:2664835

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

rs_2529625584

2 SubmittersRCV004588653 RCV005102000

NM_000238.4(KCNH2):c.3355G>T (p.Glu1119Ter)

SNV
Germline

Chr7:150945490

Pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

rs_199473033

1 SubmittersRCV004594718

NM_001743.6(CALM2):c.7G>A (p.Asp3Asn)

SNV
Germline

Chr2:47170761

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004600606 RCV005102117

NM_005751.5(AKAP9):c.7310G>A (p.Arg2437His)

SNV
Germline

Chr7:92079443

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004632412 RCV006474271

NM_005751.5(AKAP9):c.988A>G (p.Ile330Val)

SNV
Germline

Chr7:92000905

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004632358 RCV005102213

NM_001148.6(ANK2):c.6833A>C (p.Glu2278Ala)

SNV
Germline

Chr4:113355451

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004640842 RCV005059687

NM_001148.6(ANK2):c.1288-5C>T

SNV
Germline

Chr4:113258308

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004640867 RCV005102291

NM_000238.4(KCNH2):c.1265C>A (p.Ala422Asp)

SNV
Germline

Chr7:150952717

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004775592

NM_006888.6(CALM1):c.398G>T (p.Gly133Val)

SNV
Germline

Chr14:90404491

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004775600

NM_000238.4(KCNH2):c.161A>C (p.Tyr54Ser)

SNV
Germline

Chr7:150974857

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004701975 RCV006474514

NM_000238.4(KCNH2):c.1171C>T (p.Gln391Ter)

SNV
Germline

Chr7:150952811

Pathogenic

Condition: not provided
Long QT syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004719454 RCV005871545

NM_002224.4(ITPR3):c.3058+2T>C

SNV
Unknown

Chr6:33673722

Likely pathogenic

Congenital long QT syndrome

No Assertion Criteria Provided

1 SubmittersRCV004734001

NM_152564.5(VPS13B):c.3083-1G>C

SNV
Unknown

Chr8:99431536

Likely pathogenic

Congenital long QT syndrome

No Assertion Criteria Provided

1 SubmittersRCV004734002

NM_000238.4(KCNH2):c.1592G>C (p.Arg531Pro)

SNV
Germline

Chr7:150951801

Likely pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV004776368

NM_000218.3(KCNQ1):c.321G>C (p.Gln107His)

SNV
Germline

Chr11:2445419

Likely pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004788264

NM_000218.3(KCNQ1):c.1027C>G (p.Pro343Ala)

SNV
Germline

Chr11:2583540

Pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004788310

NM_000335.5(SCN5A):c.1207T>C (p.Tyr403His)

SNV
Germline

Chr3:38606082

Likely pathogenic

Long QT syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV004788543

NM_000238.4(KCNH2):c.1964T>A (p.Ile655Asn)

SNV
Germline

Chr7:150951102

Likely pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV004795428

NM_000719.7(CACNA1C):c.1832T>C (p.Met611Thr)

SNV
Germline

Chr12:2567731

Pathogenic/Likely pathogenic

Timothy syndrome
Brugada syndrome 3
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Long QT syndrome 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004795628 RCV005639602

NM_000218.3(KCNQ1):c.744G>A (p.Trp248Ter)

SNV
Germline

Chr11:2572073

Pathogenic

Short QT syndrome type 2
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Atrial fibrillation, familial, 3

Criteria Provided
Single Submitter

1 SubmittersRCV004795678

NM_000719.7(CACNA1C):c.3487G>A (p.Gly1163Ser)

SNV
Germline

Chr12:2608641

Likely pathogenic

Timothy syndrome
Brugada syndrome 3
Long QT syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV004795861

NM_000238.4(KCNH2):c.166C>T (p.Arg56Trp)

SNV
Unknown

Chr7:150974852

Likely pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV004797687

NM_000238.4(KCNH2):c.1990C>T (p.Gln664Ter)

SNV
Germline

Chr7:150951076

Pathogenic

Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004806662

NM_000238.4(KCNH2):c.1219A>G (p.Lys407Glu)

SNV
Germline

Chr7:150952763

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004812575 RCV005402219

NM_000719.7(CACNA1C):c.794T>A (p.Met265Lys)

SNV
Germline

Chr12:2486140

Likely pathogenic

Timothy syndrome
Brugada syndrome 3
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Long QT syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV004819971

NM_000218.3(KCNQ1):c.1686-1G>T

SNV
Germline

Chr11:2776985

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004820585 RCV006479425

NM_005751.5(AKAP9):c.5006C>T (p.Ala1669Val)

SNV
Germline

Chr7:92042134

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004996972 RCV005110283

NM_005751.5(AKAP9):c.5528T>G (p.Met1843Arg)

SNV
Germline

Chr7:92052885

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004997015 RCV006484406

NM_001148.6(ANK2):c.6218T>C (p.Ile2073Thr)

SNV
Germline

Chr4:113354836

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004993821 RCV005112426

NM_000335.5(SCN5A):c.4778T>G (p.Phe1593Cys)

SNV
Germline

Chr3:38554311

Likely pathogenic

Long QT syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005000614

NM_000238.4(KCNH2):c.2980G>A (p.Val994Met)

SNV
Germline

Chr7:150947500

Likely pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005000618

NM_000238.4(KCNH2):c.176T>C (p.Val59Ala)

SNV
Germline

Chr7:150974842

Likely pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005000624

NM_000890.5(KCNJ5):c.91G>A (p.Asp31Asn)

SNV
Germline

Chr11:128911364

Conflicting classifications of pathogenicity

Familial hyperaldosteronism type III
Long QT syndrome 13
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005046435 RCV005623572 RCV005365385

NM_033337.3(CAV3):c.115-1G>T

SNV
Germline

Chr3:8745525

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005000850 RCV005061833

NM_000218.3(KCNQ1):c.697C>A (p.Leu233Met)

SNV
Germline

Chr11:2572026

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005059959

NM_003098.3(SNTA1):c.818C>T (p.Pro273Leu)

SNV
Germline

Chr20:33412666

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005078381 RCV005495737

NM_001148.6(ANK2):c.9055A>T (p.Met3019Leu)

SNV
Germline

Chr4:113357673

Conflicting classifications of pathogenicity

Long QT syndrome
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005083624 RCV005241091

NM_000218.3(KCNQ1):c.703A>C (p.Ile235Leu)

SNV
Germline

Chr11:2572032

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005115528

NM_000218.3(KCNQ1):c.473G>A (p.Trp158Ter)

SNV
Germline

Chr11:2528014

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005142610

NM_000218.3(KCNQ1):c.1561C>T (p.Gln521Ter)

SNV
Germline

Chr11:2768890

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005142637

NM_000238.4(KCNH2):c.1502A>C (p.Asp501Ala)

SNV
Germline

Chr7:150952480

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005132222

NM_001148.6(ANK2):c.10903G>C (p.Glu3635Gln)

SNV
Germline

Chr4:113365053

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005594931 RCV005142070

NM_000719.7(CACNA1C):c.2695G>A (p.Asp899Asn)

SNV
Germline

Chr12:2595905

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005154941 RCV006352657

NM_000218.3(KCNQ1):c.563G>A (p.Trp188Ter)

SNV
Germline

Chr11:2570713

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005166127

NM_000719.7(CACNA1C):c.2669G>A (p.Arg890His)

SNV
Germline

Chr12:2595879

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005168304 RCV005241584

NM_001148.6(ANK2):c.6946C>T (p.Pro2316Ser)

SNV
Germline

Chr4:113355564

Conflicting classifications of pathogenicity

Long QT syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005179379 RCV005414743 RCV005594983

NM_001148.6(ANK2):c.6460C>T (p.Arg2154Cys)

SNV
Germline

Chr4:113355078

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005193206 RCV006352704

NM_001148.6(ANK2):c.5851G>A (p.Val1951Ile)

SNV
Germline

Chr4:113354469

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005182269 RCV005594984

NM_000719.7(CACNA1C):c.1336G>C (p.Asp446His)

SNV
Germline

Chr12:2512930

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005197749

NM_000218.3(KCNQ1):c.418A>C (p.Ser140Arg)

SNV
Germline

Chr11:2527959

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005195196

NM_000218.3(KCNQ1):c.1590+1G>C

SNV
Germline

Chr11:2768920

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005202277

NM_001148.6(ANK2):c.1485+1G>A

SNV
Germline

Chr4:113264996

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005203216

NM_000218.3(KCNQ1):c.347G>C (p.Arg116Pro)

SNV
Germline

Chr11:2445445

Conflicting classifications of pathogenicity

Long QT syndrome
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005200643 RCV006553429

NM_000238.4(KCNH2):c.2650C>T (p.Gln884Ter)

SNV
Germline

Chr7:150948486

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005200656

NM_000238.4(KCNH2):c.2195T>C (p.Leu732Pro)

SNV
Germline

Chr7:150950371

Conflicting classifications of pathogenicity

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005200658 RCV005657517

NM_000238.4(KCNH2):c.2146-2A>G

SNV
Germline

Chr7:150950422

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005200659

NM_000238.4(KCNH2):c.1810G>T (p.Gly604Cys)

SNV
Germline

Chr7:150951583

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005200661

NM_000238.4(KCNH2):c.148G>T (p.Glu50Ter)

SNV
Germline

Chr7:150974870

Pathogenic

Long QT syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005200664 RCV005587676

NM_006888.6(CALM1):c.4-4A>G

SNV
Germline

Chr14:90400061

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome 14
Catecholaminergic polymorphic ventricular tachycardia 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005314661 RCV006567322

NM_000719.7(CACNA1C):c.6297C>T (p.Asn2099=)

SNV
Germline

Chr12:2691079

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005314371 RCV006474843

NM_005751.5(AKAP9):c.5228C>T (p.Ala1743Val)

SNV
Germline

Chr7:92045073

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005339455 RCV006474941

NM_000238.4(KCNH2):c.94G>C (p.Ala32Pro)

SNV
Germline

Chr7:150974924

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005404076 RCV006475205

NM_000238.4(KCNH2):c.1766T>C (p.Leu589Pro)

SNV
Germline

Chr7:150951627

Likely pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005415347

NM_000218.3(KCNQ1):c.1771C>G (p.Arg591Gly)

SNV
Germline

Chr11:2778014

Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005417021 RCV006613470

NM_001148.6(ANK2):c.8968G>A (p.Gly2990Ser)

SNV
Germline

Chr4:113357586

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005599151 RCV006632406

NM_000719.7(CACNA1C):c.2578C>T (p.Arg860Ter)

SNV
Germline

Chr12:2593260

Pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005603567 RCV006484801

NM_000238.4(KCNH2):c.1871G>T (p.Ser624Ile)

SNV
Germline

Chr7:150951522

Likely pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005625078

NM_001148.6(ANK2):c.9337C>T (p.Arg3113Ter)

SNV
Germline

Chr4:113357955

Pathogenic

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005667565 RCV006568471

NM_000238.4(KCNH2):c.1707C>A (p.Tyr569Ter)

SNV
Germline

Chr7:150951686

Pathogenic

Long QT syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005864745

NM_000218.3(KCNQ1):c.45G>A (p.Trp15Ter)

SNV
Germline

Chr11:2445143

Pathogenic

Long QT syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV006258111

NM_000238.4(KCNH2):c.2398+2T>G

SNV
Germline

Chr7:150950166

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006266236

NM_001743.6(CALM2):c.285+4C>T

SNV
Germline

Chr2:47162282

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006360706 RCV006475581

NM_000218.3(KCNQ1):c.1129-5C>T

SNV
Germline

Chr11:2587565

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Long QT syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006346308 RCV006475591

NM_005751.5(AKAP9):c.571C>T (p.Gln191Ter)

SNV
Germline

Chr7:91993050

Likely pathogenic

Long QT syndrome 11

Criteria Provided
Single Submitter

1 SubmittersRCV006454965

NM_000218.3(KCNQ1):c.1733-1G>A

SNV
Germline

Chr11:2777975

Pathogenic

Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006459469

NM_000719.7(CACNA1C):c.4132G>A (p.Gly1378Arg)

SNV
Germline

Chr12:2653892

Pathogenic/Likely pathogenic

Condition: not provided
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006456353 RCV006613860

NM_000238.4(KCNH2):c.3028C>T (p.Gln1010Ter)

SNV
Germline

Chr7:150947452

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006494939

NM_001148.6(ANK2):c.9226C>T (p.Gln3076Ter)

SNV
Germline

Chr4:113357844

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006507869

NM_000218.3(KCNQ1):c.958C>A (p.Pro320Thr)

SNV
Germline

Chr11:2583471

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006504793

NM_000238.4(KCNH2):c.2173C>T (p.Gln725Ter)

SNV
Germline

Chr7:150950393

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006504819

NM_000238.4(KCNH2):c.2044G>T (p.Glu682Ter)

SNV
Germline

Chr7:150951022

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006504820

NM_000238.4(KCNH2):c.2966-2A>G

SNV
Germline

Chr7:150947516

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006495085

NM_001148.6(ANK2):c.10573G>T (p.Glu3525Ter)

SNV
Germline

Chr4:113359191

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006518836

NM_000238.4(KCNH2):c.473-2A>C

SNV
Germline

Chr7:150958504

Likely pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006524928

NM_000218.3(KCNQ1):c.375C>G (p.Tyr125Ter)

SNV
Germline

Chr11:2445473

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006530626

NM_000238.4(KCNH2):c.1774C>T (p.Gln592Ter)

SNV
Germline

Chr7:150951619

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006523299

NM_000238.4(KCNH2):c.184C>T (p.Arg62Ter)

SNV
Germline

Chr7:150974834

Pathogenic

Long QT syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006519112

NM_006888.6(CALM1):c.389A>T (p.Asp130Val)

SNV
Germline

Chr14:90404482

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 4
Long QT syndrome 14

Criteria Provided
Single Submitter

1 SubmittersRCV006599542

NM_006888.6(CALM1):c.270C>G (p.Phe90Leu)

SNV
Germline

Chr14:90403953

Pathogenic

Catecholaminergic polymorphic ventricular tachycardia 4
Long QT syndrome 14

Criteria Provided
Single Submitter

1 SubmittersRCV006595168