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
145 10 3 10 12 0 1 23

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 0 1 1
uncertain significance 0 0 0 10 3
likely benign 0 1 10 0 10
benign 0 1 3 10 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
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.1069G>A (p.Ala357Thr) rs75426387
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) rs149185431
NM_001048166.1(STIL):c.1227T>C (p.Ser409=) rs200532713
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.257C>T (p.Ala86Val) rs3125630
NM_001048166.1(STIL):c.2615+27A>G rs2742104
NM_001048166.1(STIL):c.2829+1G>A rs199422206
NM_001048166.1(STIL):c.2906A>G (p.His969Arg) rs148193936
NM_001048166.1(STIL):c.3156C>T (p.Ser1052=) rs113337758
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.3581C>T (p.Pro1194Leu) rs144746030
NM_001048166.1(STIL):c.3658del (p.Leu1219_Val1220insTer) rs199422207
NM_001048166.1(STIL):c.3718C>T (p.Gln1240Ter) rs121918609

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