ClinVar Miner

Variants in gene OTOGL 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
129 37 0 19 9 0 1 25

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 1 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 9 4
likely benign 0 0 9 0 18
benign 0 0 4 18 0

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 12q21.31(chr12:80632582-80728257)x1
NM_173591.3(OTOGL):c.1913G>A (p.Trp638Ter) rs377708973
NM_173591.3(OTOGL):c.1963C>T (p.Pro655Ser) rs76420383
NM_173591.3(OTOGL):c.2523C>T (p.Phe841=) rs77835094
NM_173591.3(OTOGL):c.3042A>G (p.Gln1014=) rs144125797
NM_173591.3(OTOGL):c.3157A>T (p.Ile1053Phe) rs188793584
NM_173591.3(OTOGL):c.316A>C (p.Met106Leu) rs200912084
NM_173591.3(OTOGL):c.3186+10C>T rs201373228
NM_173591.3(OTOGL):c.3228T>C (p.Thr1076=) rs138823379
NM_173591.3(OTOGL):c.3329T>C (p.Ile1110Thr) rs150426222
NM_173591.3(OTOGL):c.3400A>G (p.Ile1134Val) rs117462138
NM_173591.3(OTOGL):c.3461A>G (p.Asp1154Gly) rs202085918
NM_173591.3(OTOGL):c.3486C>T (p.Gly1162=) rs145834039
NM_173591.3(OTOGL):c.3862T>A (p.Trp1288Arg) rs148064564
NM_173591.3(OTOGL):c.4186T>C (p.Leu1396=) rs114661503
NM_173591.3(OTOGL):c.492G>A (p.Ser164=) rs181528168
NM_173591.3(OTOGL):c.5042C>T (p.Pro1681Leu) rs185895624
NM_173591.3(OTOGL):c.5280T>C (p.Tyr1760=) rs183555119
NM_173591.3(OTOGL):c.5571C>T (p.Cys1857=) rs61734095
NM_173591.3(OTOGL):c.5675T>C (p.Ile1892Thr) rs775475186
NM_173591.3(OTOGL):c.5896T>C (p.Leu1966=) rs73139245
NM_173591.3(OTOGL):c.6129C>T (p.Leu2043=) rs34323912
NM_173591.3(OTOGL):c.6202T>G (p.Cys2068Gly) rs145929269
NM_173591.3(OTOGL):c.833C>T (p.Ser278Leu) rs147195954
NM_173591.3(OTOGL):c.902G>A (p.Gly301Glu) rs186616540

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