ClinVar Miner

Variants in gene COG7 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
119 7 0 6 10 0 1 17

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 1 0 0
uncertain significance 1 0 8 2
likely benign 0 8 0 6
benign 0 2 6 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_153603.4(COG7):c.1113C>T (p.Leu371=) rs114661874
NM_153603.4(COG7):c.1137+8C>T rs75523257
NM_153603.4(COG7):c.1178A>G (p.His393Arg) rs116331296
NM_153603.4(COG7):c.1455C>T (p.Phe485=) rs116153163
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp) rs548129734
NM_153603.4(COG7):c.1852G>A (p.Ala618Thr) rs145412851
NM_153603.4(COG7):c.1971C>T (p.His657=) rs114458562
NM_153603.4(COG7):c.2013G>A (p.Leu671=) rs370447404
NM_153603.4(COG7):c.2052G>A (p.Ser684=) rs142744907
NM_153603.4(COG7):c.2283C>T (p.Thr761=) rs144814374
NM_153603.4(COG7):c.366C>T (p.Ala122=) rs74012178
NM_153603.4(COG7):c.534G>A (p.Glu178=) rs80204521
NM_153603.4(COG7):c.75C>G (p.Ser25=) rs149481813
NM_153603.4(COG7):c.850A>T (p.Ile284Phe) rs115605801
NM_153603.4(COG7):c.900C>T (p.Asn300=) rs112611398
NM_153603.4(COG7):c.904G>A (p.Val302Met) rs116314856
NM_153603.4(COG7):c.963C>T (p.Thr321=) rs762510375

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