ClinVar Miner

Variants with conflicting interpretations studied for Long QT syndrome 11

Coded as:
Minimum review status of the submission for Long QT syndrome 11: Collection method of the submission for Long QT syndrome 11:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
234 31 0 9 3 0 1 13

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 11 pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 2 1
likely benign 0 2 0 9
benign 0 1 9 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Long QT syndrome 11 234 31 0 9 3 0 1 13

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val) rs144615758 0.00298
NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val) rs142729919 0.00296
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) rs76177450 0.00250
NM_005751.5(AKAP9):c.11098-13T>G rs76709221 0.00235
NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=) rs143627839 0.00148
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_005751.5(AKAP9):c.9358+11T>C rs199714035 0.00101
NM_005751.5(AKAP9):c.6508-20A>T rs374874284 0.00079
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr) rs150016098 0.00061
NM_005751.5(AKAP9):c.4163C>T (p.Ser1388Leu) rs143565222 0.00034
NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn) rs148920964 0.00011
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu) rs121908566 0.00001
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile) rs543634397

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