ClinVar Miner

Variants with conflicting interpretations studied for Long QT syndrome 2

Coded as:
Minimum review status of the submission for Long QT syndrome 2: Y axis collection method of the submission for Long QT syndrome 2:
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
28 37 0 15 7 1 8 27

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 2 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 9 3 1 0
likely pathogenic 4 0 3 1 0
uncertain significance 2 3 0 6 2
likely benign 0 0 1 0 2
benign 0 0 0 1 0
risk factor 0 0 1 1 0

Condition to condition summary #

Total conditions: 13
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 6 5 1 5 15
not provided 0 22 0 6 2 1 4 13
Cardiovascular phenotype 0 12 0 5 2 1 2 10
not specified 0 0 0 0 4 1 1 6
Arrhythmia 0 1 0 1 4 0 1 5
Cardiac arrhythmia 0 0 0 0 1 0 0 1
Long QT syndrome 2 88 3 0 1 0 0 1 1
Long QT syndrome 2/9, digenic 0 0 0 1 0 0 1 1
Obesity; Prolonged QT interval 0 0 0 1 0 0 0 1
Romano-Ward syndrome 0 0 0 1 0 0 0 1
Short QT syndrome 1; Long QT syndrome 2 0 3 0 0 1 0 0 1
Sudden unexplained death 0 0 0 0 1 0 0 1
Torsades de pointes 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_000238.3(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.3(KCNH2):c.1332G>A (p.Glu444=) rs9770044
NM_000238.3(KCNH2):c.1342G>T (p.Ala448Ser) rs767723985
NM_000238.3(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_000238.3(KCNH2):c.1558-5C>T rs114186001
NM_000238.3(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.3(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.3(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_000238.3(KCNH2):c.1814C>T (p.Pro605Leu) rs199472938
NM_000238.3(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.3(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000238.3(KCNH2):c.1918T>C (p.Phe640Leu) rs199473529
NM_000238.3(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438
NM_000238.3(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512
NM_000238.3(KCNH2):c.2320G>T (p.Asp774Tyr) rs199472995
NM_000238.3(KCNH2):c.2509G>A (p.Asp837Asn) rs199473005
NM_000238.3(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.3(KCNH2):c.2660G>A (p.Arg887His) rs199473432
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.3(KCNH2):c.2843G>A (p.Arg948His) rs199473011
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.3(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_000238.3(KCNH2):c.560_568delGCGCGGGCG (p.Gly187_Gly189del) rs551056698
NM_000238.3(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_001204798.1(KCNH2):c.78C>T (p.Ala26=) rs200324802
NM_005751.4(AKAP9):c.1099G>A (p.Val367Met) rs138161478
NM_198056.2(SCN5A):c.5851G>A (p.Val1951Met) rs41315493

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