ClinVar Miner

Variants in gene STIL 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 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
92 10 3 9 11 0 2 22

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 3 0 0 0 0
likely pathogenic 0 0 2 1 1
uncertain significance 0 2 0 9 4
likely benign 0 1 9 0 9
benign 0 1 4 9 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_001048166.1(STIL):c.1005A>G (p.Glu335=) rs149296029
NM_001048166.1(STIL):c.1024-4T>C rs188900275
NM_001048166.1(STIL):c.1055G>A (p.Arg352His) rs141678367
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) rs149185431
NM_001048166.1(STIL):c.1229C>G (p.Pro410Arg) rs202194355
NM_001048166.1(STIL):c.1452C>G (p.Ser484=) rs10789505
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001048166.1(STIL):c.152+4T>C rs368201717
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154
NM_001048166.1(STIL):c.2070A>T (p.Ser690=) rs367887740
NM_001048166.1(STIL):c.2259C>G (p.Ser753=) rs774035449
NM_001048166.1(STIL):c.2384-13A>G rs140975915
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630
NM_001048166.1(STIL):c.2829+1G>A rs199422206
NM_001048166.1(STIL):c.2906A>G (p.His969Arg) rs148193936
NM_001048166.1(STIL):c.2954A>G (p.His985Arg) rs13376679
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727
NM_001048166.1(STIL):c.3430G>A (p.Asp1144Asn) rs112563569
NM_001048166.1(STIL):c.3437C>T (p.Ala1146Val) rs3766317
NM_001048166.1(STIL):c.3515C>T (p.Ser1172Phe) rs550062989
NM_001048166.1(STIL):c.3658del (p.Leu1219_Val1220insTer) rs199422207
NM_001048166.1(STIL):c.3718C>T (p.Gln1240Ter) rs121918609

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