ClinVar Miner

Variants in gene MTR 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
226 15 0 11 13 1 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 risk factor
pathogenic 0 1 1 0 0 0
likely pathogenic 1 0 0 0 0 0
uncertain significance 1 0 0 10 5 1
likely benign 0 0 10 0 10 0
benign 0 0 5 10 0 1
risk factor 0 0 1 0 1 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000254.2(MTR):c.1033G>A (p.Val345Ile) rs145006491
NM_000254.2(MTR):c.1076-8C>T rs115186224
NM_000254.2(MTR):c.1080A>G (p.Leu360=) rs141861479
NM_000254.2(MTR):c.1437C>T (p.Asp479=) rs115424814
NM_000254.2(MTR):c.1722T>C (p.Ser574=) rs142857114
NM_000254.2(MTR):c.181A>C (p.Arg61=) rs886046217
NM_000254.2(MTR):c.250-7G>A rs184332230
NM_000254.2(MTR):c.2756A>G (p.Asp919Gly) rs1805087
NM_000254.2(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.2(MTR):c.2815G>C (p.Gly939Arg) rs113042166
NM_000254.2(MTR):c.2994C>T (p.Asn998=) rs778549407
NM_000254.2(MTR):c.34+10C>T rs376679817
NM_000254.2(MTR):c.340-6C>T rs7526063
NM_000254.2(MTR):c.3474G>A (p.Leu1158=) rs142113735
NM_000254.2(MTR):c.3477C>T (p.Asp1159=) rs117061132
NM_000254.2(MTR):c.3491G>A (p.Arg1164His) rs61736326
NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu) rs121913578
NM_000254.2(MTR):c.3583A>G (p.Ile1195Val) rs149476106
NM_000254.2(MTR):c.3599-10C>A rs41530146
NM_000254.2(MTR):c.3665A>G (p.Asn1222Ser) rs61739582
NM_000254.2(MTR):c.3712-7T>G rs151081130
NM_000254.2(MTR):c.858C>T (p.Pro286=) rs146019467
NM_000254.2(MTR):c.940G>A (p.Asp314Asn) rs2229274

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