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 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
307 30 0 10 10 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 0 1 0 0
likely pathogenic 0 0 1 1 1
uncertain significance 1 1 0 10 2
likely benign 0 1 10 0 10
benign 0 1 2 10 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_001048166.1(STIL):c.2615+27A>G rs2742104 0.43900
NM_001048166.1(STIL):c.453+18C>T rs75983191 0.01360
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154 0.01146
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727 0.00478
NM_001048166.1(STIL):c.1055G>A (p.Arg352His) rs141678367 0.00323
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) rs149185431 0.00258
NM_001048166.1(STIL):c.1024-4T>C rs188900275 0.00229
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu) rs144746030 0.00220
NM_001048166.1(STIL):c.1069G>A (p.Ala357Thr) rs75426387 0.00194
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193
NM_001048166.1(STIL):c.2906A>G (p.His969Arg) rs148193936 0.00085
NM_001048166.1(STIL):c.3156C>T (p.Ser1052=) rs113337758 0.00043
NM_001048166.1(STIL):c.1005A>G (p.Glu335=) rs149296029 0.00030
NM_001048166.1(STIL):c.152+4T>C rs368201717 0.00029
NM_001048166.1(STIL):c.2259C>G (p.Ser753=) rs774035449 0.00008
NM_001048166.1(STIL):c.1227T>C (p.Ser409=) rs200532713 0.00004
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys) rs199634446 0.00001
NM_001048166.1(STIL):c.2070A>T (p.Ser690=) rs367887740

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