ClinVar Miner

Variants with conflicting interpretations studied for Arrhythmia

Coded as:
Minimum review status of the submission for Arrhythmia: Y axis collection method of the submission for Arrhythmia:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
94 99 0 95 62 2 15 138

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Arrhythmia pathogenic likely pathogenic uncertain significance likely benign benign risk factor
likely pathogenic 1 0 0 0 0 0
uncertain significance 2 9 0 10 1 0
likely benign 2 1 32 0 29 0
benign 3 0 20 65 0 2

Condition to condition summary #

Total conditions: 45
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Long QT syndrome 0 46 0 50 29 0 2 73
not specified 0 92 0 44 20 0 1 58
Brugada syndrome 0 69 0 20 16 0 2 38
not provided 0 87 0 14 20 0 5 38
Romano-Ward syndrome 0 9 0 22 13 0 0 35
Cardiovascular phenotype 0 94 0 19 7 0 0 26
Dilated Cardiomyopathy, Dominant 0 0 0 12 12 0 0 24
Paroxysmal familial ventricular fibrillation 0 0 0 12 12 0 0 24
Progressive familial heart block 0 0 0 12 12 0 0 24
Sick sinus syndrome 0 0 0 12 12 0 0 24
short QT syndrome 0 8 0 10 2 0 0 12
Familial atrial fibrillation 0 9 0 10 1 0 0 11
Jervell and Lange-Nielsen syndrome 0 9 0 10 1 0 0 11
Long QT syndrome 2 0 1 0 1 4 0 1 5
Brugada syndrome 1 0 0 0 0 3 0 1 4
Long QT syndrome 3 0 6 0 0 1 0 2 3
Brugada syndrome 1; Long QT syndrome 3 0 2 0 1 1 0 0 2
Long qt syndrome 3, acquired, susceptibility to 0 0 0 0 0 2 0 2
Primary dilated cardiomyopathy 0 0 0 0 2 0 0 2
SUDDEN INFANT DEATH SYNDROME 0 2 0 0 0 0 2 2
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 0 0 0 0 0 0 1 1
Atrial fibrillation; Brugada syndrome 0 0 0 1 0 0 0 1
Cardiac arrest 0 0 0 1 0 0 0 1
Cardiac arrhythmia 0 8 0 1 0 0 0 1
Cardiomyopathy 0 1 0 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1E 0 0 0 0 0 0 1 1
Familial dilated cardiomyopathy 0 0 0 0 1 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 0 1 0 0 0 1
Long QT syndrome 1 0 1 0 0 0 0 1 1
Long QT syndrome 2/9, digenic 0 0 0 0 0 0 1 1
Long QT syndrome, drug-associated 0 0 0 1 0 0 0 1
Long QT syndrome; Brugada syndrome 0 0 0 1 0 0 0 1
Nodal rhythm 0 0 0 0 1 0 0 1
Paroxysmal familial ventricular fibrillation 1 0 0 0 1 0 0 0 1
Primary familial hypertrophic cardiomyopathy 0 0 0 0 1 0 0 1
Pulmonary valve stenosis (rare); Ventricular tachycardia 0 0 0 1 0 0 0 1
Short QT syndrome 1 0 0 0 0 1 0 0 1
Short QT syndrome 1; Long QT syndrome 2 0 1 0 0 1 0 0 1
Sick sinus syndrome 1, autosomal recessive 0 0 0 0 0 0 1 1
Sudden cardiac death 0 1 0 0 1 0 0 1
Sudden unexplained death 0 0 0 1 0 0 0 1
Wolff-Parkinson-White pattern 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 138
Download table as spreadsheet
HGVS dbSNP
NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756
NM_000218.2(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.2(KCNQ1):c.1394-14C>T rs28730758
NM_000218.2(KCNQ1):c.1394-8C>T rs371488379
NM_000218.2(KCNQ1):c.1455C>T (p.Phe485=) rs17215465
NM_000218.2(KCNQ1):c.1514+3G>A rs374767819
NM_000218.2(KCNQ1):c.1749C>T (p.Arg583=) rs200670744
NM_000218.2(KCNQ1):c.1800G>A (p.Thr600=) rs147091980
NM_000218.2(KCNQ1):c.1860C>T (p.His620=) rs139893266
NM_000218.2(KCNQ1):c.1926C>T (p.Cys642=) rs12720454
NM_000218.2(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.2(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000218.2(KCNQ1):c.435C>T (p.Ile145=) rs1800170
NM_000218.2(KCNQ1):c.447C>T (p.Ala149=) rs146436765
NM_000218.2(KCNQ1):c.459G>A (p.Thr153=) rs148121889
NM_000218.2(KCNQ1):c.478-8C>T rs150711844
NM_000218.2(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.2(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632
NM_000218.2(KCNQ1):c.720C>T (p.His240=) rs28730754
NM_000218.2(KCNQ1):c.776G>A (p.Arg259His) rs199472720
NM_000218.2(KCNQ1):c.811C>T (p.Leu271=) rs189991547
NM_000218.2(KCNQ1):c.820A>G (p.Ile274Val) rs199472728
NM_000218.2(KCNQ1):c.972C>T (p.Val324=) rs554518844
NM_000238.3(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.3(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.3(KCNH2):c.1332G>A (p.Glu444=) rs9770044
NM_000238.3(KCNH2):c.1467C>T (p.Ile489=) rs740952
NM_000238.3(KCNH2):c.1471G>A (p.Val491Ile) rs374376640
NM_000238.3(KCNH2):c.1528C>T (p.Leu510=) rs75648145
NM_000238.3(KCNH2):c.1539C>T (p.Phe513=) rs1805120
NM_000238.3(KCNH2):c.1558-5C>T rs114186001
NM_000238.3(KCNH2):c.1563C>T (p.Ile521=) rs143011005
NM_000238.3(KCNH2):c.1641G>A (p.Ala547=) rs149902084
NM_000238.3(KCNH2):c.1692A>G (p.Leu564=) rs1805121
NM_000238.3(KCNH2):c.1800C>T (p.Ser600=) rs143518632
NM_000238.3(KCNH2):c.1809C>T (p.Gly603=) rs41314375
NM_000238.3(KCNH2):c.1956T>C (p.Tyr652=) rs1137617
NM_000238.3(KCNH2):c.2127C>T (p.Asn709=) rs768572372
NM_000238.3(KCNH2):c.2131A>G (p.Ile711Val) rs199473532
NM_000238.3(KCNH2):c.2398+105delC rs546898924
NM_000238.3(KCNH2):c.2398+156G>A rs139247073
NM_000238.3(KCNH2):c.2398+178C>T rs41314366
NM_000238.3(KCNH2):c.2454G>A (p.Ser818=) rs72549418
NM_000238.3(KCNH2):c.2665T>G (p.Leu889Val) rs765427343
NM_000238.3(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.3(KCNH2):c.2941A>G (p.Ser981Gly) rs76649554
NM_000238.3(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.3(KCNH2):c.3321G>A (p.Ser1107=) rs189457419
NM_000238.3(KCNH2):c.342C>T (p.Pro114=) rs532959204
NM_000238.3(KCNH2):c.3436A>T (p.Thr1146Ser) rs778879572
NM_000238.3(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000238.3(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_000238.3(KCNH2):c.77-5C>G rs72549419
NM_000335.4(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339
NM_000335.4(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000335.4(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.3832G>A (p.Val1278Ile) rs199473341
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.4845C>T (p.Phe1615=) rs41315495
NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.4(SCN5A):c.5841C>T (p.Ile1947=) rs13324293
NM_000335.4(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_001099404.1(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230
NM_001204798.1(KCNH2):c.78C>T (p.Ala26=) rs200324802
NM_172057.2(KCNH2):c.2311-9_2311-8del rs41313749
NM_198056.2(SCN5A):c.1008G>A (p.Pro336=) rs200285003
NM_198056.2(SCN5A):c.100C>T (p.Arg34Cys) rs6791924
NM_198056.2(SCN5A):c.1044C>T (p.Pro348=) rs370346797
NM_198056.2(SCN5A):c.1068T>C (p.Asp356=) rs41313703
NM_198056.2(SCN5A):c.1141-3C>A rs41312433
NM_198056.2(SCN5A):c.1152C>T (p.Ser384=) rs372970828
NM_198056.2(SCN5A):c.1195C>T (p.Leu399=) rs369253900
NM_198056.2(SCN5A):c.1273G>A (p.Ala425Thr) rs761117662
NM_198056.2(SCN5A):c.1302C>T (p.Phe434=) rs41313699
NM_198056.2(SCN5A):c.1569T>A (p.Arg523=) rs41313693
NM_198056.2(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691
NM_198056.2(SCN5A):c.1673A>G (p.His558Arg) rs1805124
NM_198056.2(SCN5A):c.1681C>T (p.Leu561=) rs45522138
NM_198056.2(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_198056.2(SCN5A):c.1743G>A (p.Ser581=) rs41313687
NM_198056.2(SCN5A):c.1755C>T (p.His585=) rs201024847
NM_198056.2(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681
NM_198056.2(SCN5A):c.1993G>T (p.Ala665Ser) rs756474485
NM_198056.2(SCN5A):c.2014G>A (p.Ala672Thr) rs199473140
NM_198056.2(SCN5A):c.2181C>T (p.Ile727=) rs186942072
NM_198056.2(SCN5A):c.2437-5C>A rs72549411
NM_198056.2(SCN5A):c.2496C>T (p.Ile832=)
NM_198056.2(SCN5A):c.2788-6C>T rs41260344
NM_198056.2(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183
NM_198056.2(SCN5A):c.3094G>A (p.Glu1032Lys) rs369565476
NM_198056.2(SCN5A):c.3183A>G (p.Glu1061=) rs7430407
NM_198056.2(SCN5A):c.3249C>T (p.Ser1083=) rs111422496
NM_198056.2(SCN5A):c.3262G>A (p.Ala1088Thr) rs369704754
NM_198056.2(SCN5A):c.3269C>T (p.Pro1090Leu) rs1805125
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198056.2(SCN5A):c.3363G>A (p.Ala1121=) rs9858585
NM_198056.2(SCN5A):c.3539C>T (p.Ala1180Val) rs41310765
NM_198056.2(SCN5A):c.3540G>A (p.Ala1180=) rs370990219
NM_198056.2(SCN5A):c.3718G>C (p.Glu1240Gln) rs199473211
NM_198056.2(SCN5A):c.3727G>A (p.Asp1243Asn) rs199473599
NM_198056.2(SCN5A):c.3873G>A (p.Leu1291=) rs41313033
NM_198056.2(SCN5A):c.3878T>C (p.Phe1293Ser) rs41311127
NM_198056.2(SCN5A):c.393-5C>T rs368678204
NM_198056.2(SCN5A):c.4218G>A (p.Gly1406=) rs41311123
NM_198056.2(SCN5A):c.4300-14T>C rs56104887
NM_198056.2(SCN5A):c.4302T>C (p.Tyr1434=) rs200556220
NM_198056.2(SCN5A):c.436G>A (p.Val146Met) rs199473061
NM_198056.2(SCN5A):c.4470G>A (p.Glu1490=) rs375026424
NM_198056.2(SCN5A):c.4501C>G (p.Leu1501Val) rs199473266
NM_198056.2(SCN5A):c.4509C>T (p.Ser1503=) rs45548237
NM_198056.2(SCN5A):c.4824C>T (p.Leu1608=) rs45437099
NM_198056.2(SCN5A):c.486C>T (p.Tyr162=) rs45489099
NM_198056.2(SCN5A):c.5038G>A (p.Ala1680Thr) rs199473294
NM_198056.2(SCN5A):c.52C>T (p.Arg18Trp) rs199473044
NM_198056.2(SCN5A):c.5337G>A (p.Thr1779=) rs41311121
NM_198056.2(SCN5A):c.5457T>C (p.Asp1819=) rs1805126
NM_198056.2(SCN5A):c.5607C>T (p.Asp1869=) rs560476223
NM_198056.2(SCN5A):c.5712G>A (p.Ser1904=) rs376826051
NM_198056.2(SCN5A):c.5796G>A (p.Ala1932=) rs200594132
NM_198056.2(SCN5A):c.5802C>T (p.Ser1934=) rs375254452
NM_198056.2(SCN5A):c.5885C>T (p.Pro1962Leu) rs199473638
NM_198056.2(SCN5A):c.5938G>T (p.Val1980Phe) rs772258197
NM_198056.2(SCN5A):c.6003C>T (p.Leu2001=) rs538707712
NM_198056.2(SCN5A):c.6010T>C (p.Phe2004Leu) rs41311117
NM_198056.2(SCN5A):c.6016C>G (p.Pro2006Ala) rs45489199
NM_198056.2(SCN5A):c.612-196G>A rs45475402
NM_198056.2(SCN5A):c.630G>A (p.Val210=) rs193922727
NM_198056.2(SCN5A):c.647C>T (p.Ser216Leu) rs41276525
NM_198056.2(SCN5A):c.717C>T (p.Ile239=) rs41285129
NM_198056.2(SCN5A):c.87A>G (p.Ala29=) rs6599230
NM_198056.2(SCN5A):c.885G>A (p.Glu295=) rs373342830
NM_198056.2(SCN5A):c.954C>T (p.Asn318=) rs372623225

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