ClinVar Miner

Variants in gene KRIT1 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
321 21 0 14 4 0 2 19

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 7 1 0 0
likely pathogenic 7 0 1 0 0
uncertain significance 1 1 0 3 1
likely benign 0 0 3 0 7
benign 0 0 1 7 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs) rs1057517753
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs) rs1057518665
NM_194454.3(KRIT1):c.1868G>A (p.Arg623His)
NM_194456.1(KRIT1):c.*132T>G rs572414111
NM_194456.1(KRIT1):c.1095A>G (p.Gly365=) rs143710815
NM_194456.1(KRIT1):c.1140G>A (p.Thr380=) rs140009885
NM_194456.1(KRIT1):c.1146+8A>T rs182762651
NM_194456.1(KRIT1):c.1245T>G (p.Ile415Met) rs41278788
NM_194456.1(KRIT1):c.1326C>G (p.Thr442=) rs150912644
NM_194456.1(KRIT1):c.1412-2A>C rs1563264113
NM_194456.1(KRIT1):c.1524_1528del (p.Arg510fs) rs1057517754
NM_194456.1(KRIT1):c.1809T>C (p.His603=) rs149754162
NM_194456.1(KRIT1):c.1A>G (p.Met1Val) rs1554539120
NM_194456.1(KRIT1):c.2043del (p.Lys682fs) rs1563212150
NM_194456.1(KRIT1):c.301G>A (p.Gly101Arg) rs1057521140
NM_194456.1(KRIT1):c.715C>T (p.Gln239Ter) rs886043300
NM_194456.1(KRIT1):c.77G>A (p.Arg26Gln) rs34358665
NM_194456.1(KRIT1):c.846-5dup rs373763254
NM_194456.1(KRIT1):c.850C>T (p.Arg284Ter) rs374662170

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