ClinVar Miner

Variants in gene OTOG 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
208 55 0 23 15 0 0 37

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 0 0 0
uncertain significance 0 0 0 10 6
likely benign 0 0 10 0 21
benign 0 0 6 21 0

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_001277269.1(OTOG):c.1032+9C>A rs147843540
NM_001277269.1(OTOG):c.1086C>T (p.His362=) rs575344158
NM_001277269.1(OTOG):c.1095C>T (p.Val365=) rs74921579
NM_001277269.1(OTOG):c.1251T>C (p.Thr417=) rs73418062
NM_001277269.1(OTOG):c.1389C>A (p.Phe463Leu) rs189947237
NM_001277269.1(OTOG):c.21G>A (p.Ala7=) rs149500671
NM_001277269.1(OTOG):c.2330-7A>G rs200998174
NM_001277269.1(OTOG):c.2434G>A (p.Asp812Asn) rs141010212
NM_001277269.1(OTOG):c.2548G>C (p.Gly850Arg) rs61734214
NM_001277269.1(OTOG):c.3132C>T (p.Asn1044=) rs75133799
NM_001277269.1(OTOG):c.328+10A>T rs141597314
NM_001277269.1(OTOG):c.3325-8C>G rs12792504
NM_001277269.1(OTOG):c.3561+10C>A rs113275496
NM_001277269.1(OTOG):c.3719C>T (p.Pro1240Leu) rs117005078
NM_001277269.1(OTOG):c.4048C>T (p.Arg1350Trp) rs61734125
NM_001277269.1(OTOG):c.4642C>T (p.Leu1548Phe) rs117380920
NM_001277269.1(OTOG):c.4871G>A (p.Arg1624His) rs189248390
NM_001277269.1(OTOG):c.5271C>A (p.Leu1757=) rs193083374
NM_001277269.1(OTOG):c.535delG (p.Val179Trpfs) rs876657657
NM_001277269.1(OTOG):c.5381T>C (p.Leu1794Pro) rs61744602
NM_001277269.1(OTOG):c.570C>T (p.Ser190=) rs61995706
NM_001277269.1(OTOG):c.5864C>T (p.Thr1955Met) rs75677194
NM_001277269.1(OTOG):c.6110C>T (p.Ala2037Val) rs61736002
NM_001277269.1(OTOG):c.6559C>T (p.Arg2187Ter) rs397514608
NM_001277269.1(OTOG):c.6703G>A (p.Val2235Met) rs572886375
NM_001277269.1(OTOG):c.6929G>A (p.Arg2310His) rs142799217
NM_001277269.1(OTOG):c.7081A>G (p.Ile2361Val) rs191722806
NM_001277269.1(OTOG):c.7546G>A (p.Ala2516Thr) rs548278514
NM_001277269.1(OTOG):c.7861C>A (p.Gln2621Lys) rs61995750
NM_001277269.1(OTOG):c.7903G>A (p.Asp2635Asn) rs183470913
NM_001277269.1(OTOG):c.8071C>T (p.Arg2691Cys) rs567966154
NM_001277269.1(OTOG):c.8405G>A (p.Arg2802His) rs117315845
NM_001277269.1(OTOG):c.8512C>T (p.Arg2838Cys) rs191662816
NM_001277269.1(OTOG):c.8526G>C (p.Lys2842Asn) rs61997203
NM_001277269.1(OTOG):c.8578-8C>T rs182750732
NM_001277269.1(OTOG):c.935A>G (p.His312Arg) rs189159426
NM_001277269.1(OTOG):c.973C>A (p.Pro325Thr) rs777809121

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