ClinVar Miner

Variants with conflicting interpretations between Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine and Baylor Genetics

Minimum review status of the submission from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine: Collection method of the submission from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
13 20 0 3 1 0 4 8

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
pathogenic 0 0 2
likely pathogenic 3 0 0
uncertain significance 1 1 0
likely benign 0 0 1

All variants with conflicting interpretations #

Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520
NM_001126131.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn) rs1554215979
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met) rs1554215959
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.131A>G (p.Gln44Arg) rs757120802

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