ClinVar Miner

Variants in gene COG4 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
79 5 0 5 9 0 1 14

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 uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 7 3
likely benign 0 7 0 5
benign 0 3 5 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
NM_015386.3(COG4):c.1017G>A (p.Gln339=) rs138874791
NM_015386.3(COG4):c.1195+8C>T rs80034177
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg) rs1555575860
NM_015386.3(COG4):c.1605A>C (p.Thr535=) rs751237267
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys) rs113455884
NM_015386.3(COG4):c.1827+12G>C rs372162273
NM_015386.3(COG4):c.2142G>A (p.Ser714=) rs11054
NM_015386.3(COG4):c.2163G>A (p.Thr721=) rs150547677
NM_015386.3(COG4):c.2278T>C (p.Leu760=) rs113010015
NM_015386.3(COG4):c.2310C>G (p.Arg770=) rs533161794
NM_015386.3(COG4):c.485C>T (p.Thr162Ile) rs3931036
NM_015386.3(COG4):c.558T>C (p.Asp186=) rs376885733
NM_015386.3(COG4):c.592C>T (p.Arg198Cys) rs118183032
NM_015386.3(COG4):c.646C>T (p.Leu216=) rs3762171

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.