ClinVar Miner

Variants with conflicting interpretations studied for Long QT syndrome 1

Coded as:
Minimum review status of the submission for Long QT syndrome 1: Y axis collection method of the submission for Long QT syndrome 1:
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
35 46 0 38 8 1 23 60

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
Long QT syndrome 1 pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 21 9 1 0 1
likely pathogenic 17 0 11 2 1 0
uncertain significance 2 1 0 3 1 0
likely benign 1 0 3 0 3 0
benign 0 0 2 1 0 0

Condition to condition summary #

Total conditions: 28
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
not provided 0 45 0 15 5 0 8 28
Long QT syndrome 0 29 0 9 2 0 13 24
Cardiovascular phenotype 0 22 0 7 3 0 6 16
not specified 0 9 0 3 3 0 5 10
Long QT syndrome 15 0 0 0 5 0 0 1 6
Long QT syndrome 1 125 12 0 4 0 0 0 4
Cardiomyopathy 0 0 0 1 1 0 1 3
Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome 2 0 3 0 2 0 0 0 2
Brugada syndrome 0 1 0 1 0 0 1 2
Congenital long QT syndrome 0 53 0 2 0 0 0 2
Limb-girdle muscular dystrophy 0 0 0 1 1 0 0 2
Rippling muscle disease 2 0 0 0 0 1 0 1 2
Acquired susceptibility to long QT syndrome 1 0 0 0 0 0 1 0 1
Arrhythmia 0 1 0 0 0 0 1 1
DSP-Related Disorders 0 0 0 1 0 0 0 1
Familial atrial fibrillation 0 0 0 0 0 0 1 1
Inborn genetic diseases 0 0 0 0 0 0 1 1
Jervell and Lange-Nielsen syndrome 0 0 0 0 0 0 1 1
Long QT syndrome 12 0 0 0 0 1 0 1 1
Long QT syndrome 2/9, digenic 0 0 0 0 0 0 1 1
Long QT syndrome 3 0 0 0 1 0 0 0 1
Long QT syndrome 9 0 0 0 0 1 0 1 1
Long QT syndrome, LQT1 subtype 0 1 0 1 0 0 0 1
Rippling muscle disease 2; Distal myopathy, Tateyama type 0 0 0 1 0 0 0 1
Romano-Ward syndrome 0 1 0 0 0 0 1 1
Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome; Rare genetic deafness 0 0 0 1 0 0 0 1
Short QT syndrome 1; Long QT syndrome 2 0 0 0 0 1 0 0 1
short QT syndrome 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 60
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HGVS dbSNP
NM_000218.2(KCNQ1):c.19C>T (p.Pro7Ser) rs199473443
NM_000218.2(KCNQ1):c.211_219delGCCGCGCCC rs397508107
NM_000218.2(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_001234.5(CAV3):c.134T>A (p.Ile45Asn) rs1553614409
NM_001234.5(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_001234.5(CAV3):c.244G>A (p.Val82Ile) rs112626848
NM_001743.6(CALM2):c.293A>G (p.Asn98Ser) rs398124647
NM_001743.6(CALM2):c.293A>T (p.Asn98Ile) rs398124647
NM_001743.6(CALM2):c.328A>T (p.Met110Leu) rs1553431711
NM_001743.6(CALM2):c.396T>G (p.Asp132Glu) rs398124648
NM_001743.6(CALM2):c.400G>A (p.Asp134Asn) rs398124650
NM_001743.6(CALM2):c.400G>C (p.Asp134His) rs398124650
NM_001743.6(CALM2):c.407A>C (p.Gln136Pro) rs398124649
NM_003098.2(SNTA1):c.440C>A (p.Thr147Asn) rs141724500
NM_003098.2(SNTA1):c.770C>G (p.Ala257Gly) rs56157422
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_005184.4(CALM3):c.281A>C (p.Asp94Ala) rs1060502608
NM_033337.2(CAV3):c.166G>A (p.Gly56Ser) rs72546667
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_172056.2(KCNH2):c.551_559GCGCGGGCG[1] (p.184_186GAG[1]) rs551056698
NM_181798.1(KCNQ1):c.107del (p.Leu36fs) rs397508112
NM_181798.1(KCNQ1):c.1171C>G (p.Arg391Gly) rs17215500
NM_181798.1(KCNQ1):c.1171C>T (p.Arg391Ter) rs17215500
NM_181798.1(KCNQ1):c.1175G>A (p.Arg392His) rs199472788
NM_181798.1(KCNQ1):c.1216C>T (p.Arg406Trp) rs199472793
NM_181798.1(KCNQ1):c.1235G>A (p.Arg412Gln) rs199472794
NM_181798.1(KCNQ1):c.1304+1G>A rs794728531
NM_181798.1(KCNQ1):c.1305-2A>G rs878854350
NM_181798.1(KCNQ1):c.1345G>A (p.Val449Ile) rs750409379
NM_181798.1(KCNQ1):c.1366C>T (p.Arg456Cys) rs17221854
NM_181798.1(KCNQ1):c.1381A>T (p.Ile461Phe) rs794728536
NM_181798.1(KCNQ1):c.1387G>A (p.Ala463Thr) rs199472813
NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter) rs794728537
NM_181798.1(KCNQ1):c.140G>A (p.Arg47His) rs199472697
NM_181798.1(KCNQ1):c.143_153dup (p.Gly52fs) rs763462603
NM_181798.1(KCNQ1):c.1450G>A (p.Asp484Asn) rs147445322
NM_181798.1(KCNQ1):c.1495G>A (p.Gly499Ser) rs199472821
NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs) rs397508104
NM_181798.1(KCNQ1):c.151G>A (p.Ala51Thr) rs120074177
NM_181798.1(KCNQ1):c.154G>A (p.Gly52Ser) rs199473394
NM_181798.1(KCNQ1):c.176G>A (p.Gly59Asp) rs794728568
NM_181798.1(KCNQ1):c.188G>T (p.Arg63Leu) rs120074178
NM_181798.1(KCNQ1):c.192_196del (p.Arg65fs) rs397508118
NM_181798.1(KCNQ1):c.310C>T (p.Arg104Cys) rs199473457
NM_181798.1(KCNQ1):c.326T>C (p.Leu109Pro) rs794728512
NM_181798.1(KCNQ1):c.379G>A (p.Val127Met) rs120074179
NM_181798.1(KCNQ1):c.394C>T (p.Arg132Cys) rs199472719
NM_181798.1(KCNQ1):c.395G>A (p.Arg132His) rs199472720
NM_181798.1(KCNQ1):c.44del (p.Leu15fs) rs794728566
NM_181798.1(KCNQ1):c.496C>T (p.Arg166Cys) rs199472737
NM_181798.1(KCNQ1):c.517G>A (p.Ala173Thr) rs120074187
NM_181798.1(KCNQ1):c.524C>T (p.Ala175Val) rs193922365
NM_181798.1(KCNQ1):c.563A>G (p.Tyr188Cys) rs74462309
NM_181798.1(KCNQ1):c.635T>C (p.Phe212Ser) rs199472759
NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) rs12720458
NM_181798.1(KCNQ1):c.715C>T (p.Arg239Trp) rs199473411
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_198056.2(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys) rs137854601
NM_198056.2(SCN5A):c.689T>C (p.Ile230Thr) rs199473073

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