ClinVar Miner

Variants in gene GABRB3 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
216 35 0 5 4 3 4 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 likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 1 2 0 0 0
likely pathogenic 1 0 2 0 0 0
uncertain significance 2 2 0 4 1 3
likely benign 0 0 4 0 4 1
benign 0 0 1 4 0 1
risk factor 0 0 3 1 1 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
NM_000814.6(GABRB3):c.1241G>A (p.Arg414Gln) rs373229638
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu) rs369631109
NM_000814.6(GABRB3):c.1293G>A (p.Arg431=) rs75914945
NM_000814.6(GABRB3):c.239T>C (p.Met80Thr) rs1064794797
NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg) rs1057519201
NM_000814.6(GABRB3):c.557C>T (p.Thr186Met) rs769801846
NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter) rs1555368345
NM_000814.6(GABRB3):c.682+20A>G rs75015217
NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln) rs797045045
NM_000814.6(GABRB3):c.916A>G (p.Ile306Val)
NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg) rs71651682
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409
NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe) rs121913126
NM_021912.5(GABRB3):c.80+10G>A rs763316211

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