ClinVar Miner

Variants in gene KIT with conflicting interpretations

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
1266 26 3 7 19 0 5 31

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 2 0 0 0
likely pathogenic 2 0 5 0 0
uncertain significance 0 5 2 17 3
likely benign 0 0 17 0 5
benign 0 0 3 5 1

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_000222.2(KIT):c.1185C>A (p.Ser395=) rs755864184
NM_000222.2(KIT):c.1195G>A (p.Val399Ile) rs143707288
NM_000222.2(KIT):c.1232-6C>G rs1553890995
NM_000222.2(KIT):c.1383A>G (p.Thr461=) rs151016327
NM_000222.2(KIT):c.1594G>A (p.Val532Ile) rs55792975
NM_000222.2(KIT):c.1670G>C (p.Trp557Ser) rs1057520032
NM_000222.2(KIT):c.1674G>A (p.Lys558=) rs200375589
NM_000222.2(KIT):c.1675G>A (p.Val559Ile) rs121913520
NM_000222.2(KIT):c.1676T>A (p.Val559Asp) rs121913517
NM_000222.2(KIT):c.1694G>T (p.Gly565Val) rs200945282
NM_000222.2(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000222.2(KIT):c.1961T>C (p.Val654Ala) rs121913523
NM_000222.2(KIT):c.200C>G (p.Thr67Ser) rs144933028
NM_000222.2(KIT):c.2118T>G (p.Leu706=) rs766840704
NM_000222.2(KIT):c.2234-3C>T rs370131461
NM_000222.2(KIT):c.2349C>T (p.Leu783=) rs151046591
NM_000222.2(KIT):c.2484C>T (p.Asn828=) rs141347955
NM_000222.2(KIT):c.252G>A (p.Thr84=) rs56411694
NM_000222.2(KIT):c.252G>T (p.Thr84=) rs56411694
NM_000222.2(KIT):c.2562C>G (p.Ser854=) rs750039813
NM_000222.2(KIT):c.2670C>T (p.Leu890=) rs745967881
NM_000222.2(KIT):c.2802+9A>G rs369450271
NM_000222.2(KIT):c.2805T>A (p.Ile935=) rs72549296
NM_000222.2(KIT):c.67+4G>A rs72550820
NM_000222.2(KIT):c.821C>T (p.Thr274Met) rs138585275
NM_000222.2(KIT):c.878A>G (p.Asn293Ser) rs137909416
NM_000222.2(KIT):c.952A>G (p.Met318Val) rs143388949
NM_000222.2(KIT):c.978C>T (p.Asn326=) rs148594615
NM_000222.3(KIT):c.1621A>C rs3822214
NM_000222.3(KIT):c.2447A>T rs121913507
NM_000222.3(KIT):c.2466T>A rs121913514

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