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
34 48 0 32 1 1 16 46

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 17 8 1 0 1
likely pathogenic 14 0 8 2 1 0
uncertain significance 0 1 0 0 0 0
likely benign 0 0 1 0 1 0
benign 0 0 0 3 0 0

Condition to condition summary #

Total conditions: 18
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 22 0 7 0 0 11 18
not provided 0 39 0 11 0 0 6 17
Cardiovascular phenotype 0 19 0 5 0 0 6 11
Long QT syndrome 15 0 0 0 5 0 0 1 6
not specified 0 11 0 3 1 0 2 6
Long QT syndrome 1 113 12 0 3 0 0 0 3
Romano-Ward syndrome 0 1 0 2 0 0 1 3
Brugada syndrome 0 1 0 1 0 0 1 2
Jervell and Lange-Nielsen syndrome 0 1 0 1 0 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
Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome 2 0 2 0 1 0 0 0 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
Long QT syndrome 3 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: 46
Download table as spreadsheet
HGVS dbSNP
NM_000218.2(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000218.2(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1552C>G (p.Arg518Gly) rs17215500
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.2(KCNQ1):c.1597C>T (p.Arg533Trp) rs199472793
NM_000218.2(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.2(KCNQ1):c.1685+1G>A rs794728531
NM_000218.2(KCNQ1):c.1686-2A>G rs878854350
NM_000218.2(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854
NM_000218.2(KCNQ1):c.1762A>T (p.Ile588Phe) rs794728536
NM_000218.2(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000218.2(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322
NM_000218.2(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821
NM_000218.2(KCNQ1):c.1893dupC (p.Arg632Glnfs) rs397508104
NM_000218.2(KCNQ1):c.19C>T (p.Pro7Ser) rs199473443
NM_000218.2(KCNQ1):c.211_219delGCCGCGCCC (p.Ala71_Pro73del) rs397508107
NM_000218.2(KCNQ1):c.355G>C (p.Gly119Arg)
NM_000218.2(KCNQ1):c.425delT (p.Leu142Argfs) rs794728566
NM_000218.2(KCNQ1):c.488delT (p.Leu163Argfs) rs397508112
NM_000218.2(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000218.2(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.2(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457
NM_000218.2(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.2(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.2(KCNQ1):c.776G>A (p.Arg259His) rs199472720
NM_000218.2(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737
NM_000218.2(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187
NM_000218.2(KCNQ1):c.905C>T (p.Ala302Val) rs193922365
NM_000218.2(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000238.3(KCNH2):c.560_568delGCGCGGGCG (p.Gly187_Gly189del) rs551056698
NM_001743.5(CALM2):c.243C>T (p.Asp81=) rs141298844
NM_001743.5(CALM2):c.293A>G (p.Asn98Ser) rs398124647
NM_001743.5(CALM2):c.293A>T (p.Asn98Ile) rs398124647
NM_001743.5(CALM2):c.328A>T (p.Met110Leu) rs1553431711
NM_001743.5(CALM2):c.396T>G (p.Asp132Glu) rs398124648
NM_001743.5(CALM2):c.400G>A (p.Asp134Asn) rs398124650
NM_001743.5(CALM2):c.400G>C (p.Asp134His) rs398124650
NM_001743.5(CALM2):c.407A>C (p.Gln136Pro) rs398124649
NM_004415.2(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_005184.2(CALM3):c.281A>C (p.Asp94Ala) rs1060502608
NM_005184.3(CALM3):c.267G>A (p.Ala89=) rs115265989
NM_005184.3(CALM3):c.306C>T (p.Ser102=) rs146819515
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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