ClinVar Miner

Variants with conflicting interpretations studied for KCNQ1-related condition

Minimum review status of the submission for KCNQ1-related condition: Collection method of the submission for KCNQ1-related condition:
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
93 27 0 41 6 0 1 44

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
KCNQ1-related condition likely pathogenic uncertain significance benign
pathogenic 4 0 0
uncertain significance 1 0 0
likely benign 0 6 37

Condition to condition summary #

Total conditions: 5
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
not provided 0 27 0 34 3 0 0 37
not specified 0 8 0 7 0 0 0 7
Cardiac arrhythmia 0 13 0 4 2 0 0 6
Cardiovascular phenotype 0 18 0 2 2 0 0 4
KCNQ1-Related Disorders 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1394-27C>T rs28730757 0.00360
NM_000218.3(KCNQ1):c.1514+34253G>A rs191910825 0.00357
NM_000218.3(KCNQ1):c.1394-1572T>A rs1047841136 0.00315
NM_000218.3(KCNQ1):c.1394-11027T>A rs77809463 0.00290
NM_000218.3(KCNQ1):c.1514+10580T>C rs537598032 0.00219
NM_000218.3(KCNQ1):c.1514+4493A>T rs61870800 0.00215
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_000218.3(KCNQ1):c.1860C>T (p.His620=) rs139893266 0.00038
NM_000218.3(KCNQ1):c.386+16216G>A rs201090517 0.00019
NM_000218.3(KCNQ1):c.1459G>A (p.Glu487Lys) rs1205552952 0.00015
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_000218.3(KCNQ1):c.1514+7G>T rs372593469 0.00006
NM_000218.3(KCNQ1):c.225T>C (p.Val75=) rs367817352 0.00006
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=) rs727504769 0.00006
NM_000218.3(KCNQ1):c.642C>T (p.Cys214=) rs775479779 0.00002
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His) rs120074196 0.00001
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) rs120074194 0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730 0.00001
NM_000218.3(KCNQ1):c.*4G>A rs1157661362
NM_000218.3(KCNQ1):c.1393+19784dup
NM_000218.3(KCNQ1):c.1393+20618A>C
NM_000218.3(KCNQ1):c.1393+22149A>T
NM_000218.3(KCNQ1):c.1394-11748C>A
NM_000218.3(KCNQ1):c.1394-13971G>A
NM_000218.3(KCNQ1):c.1394-1573del rs769229810
NM_000218.3(KCNQ1):c.1394-20753C>T
NM_000218.3(KCNQ1):c.1394-3571A>G
NM_000218.3(KCNQ1):c.1394-5806C>A
NM_000218.3(KCNQ1):c.1394-6817T>C
NM_000218.3(KCNQ1):c.1514+11010C>T
NM_000218.3(KCNQ1):c.1514+141C>A
NM_000218.3(KCNQ1):c.1514+23744C>T
NM_000218.3(KCNQ1):c.1514+23871G>C
NM_000218.3(KCNQ1):c.1514+28055G>A
NM_000218.3(KCNQ1):c.1514+29457A>G
NM_000218.3(KCNQ1):c.1514+3307del
NM_000218.3(KCNQ1):c.1514+35672_1514+35674del
NM_000218.3(KCNQ1):c.1514+4764G>A
NM_000218.3(KCNQ1):c.1514+8939G>A
NM_000218.3(KCNQ1):c.1514+973G>C
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529

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