ClinVar Miner

Variants in gene TRMU 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
180 22 0 5 9 1 1 16

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 risk factor
pathogenic 0 1 1 0 0 0
likely pathogenic 1 0 1 0 0 0
uncertain significance 1 1 0 7 2 0
likely benign 0 0 7 0 4 0
benign 0 0 2 4 0 1
risk factor 0 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.1158G>A (p.Leu386=) rs79874854
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) rs34152016
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) rs754239335
NM_018006.5(TRMU):c.18C>T (p.His6=) rs527315924
NM_018006.5(TRMU):c.248+9_248+18del rs763718617
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr) rs144054758
NM_018006.5(TRMU):c.30C>T (p.Ala10=) rs776692221
NM_018006.5(TRMU):c.351T>C (p.Asn117=) rs117710834
NM_018006.5(TRMU):c.429C>T (p.His143=) rs746421213
NM_018006.5(TRMU):c.567C>G (p.Ile189Met) rs192537315
NM_018006.5(TRMU):c.772+8G>A rs201372242
NM_018006.5(TRMU):c.83-4G>A rs369925943
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383

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