ClinVar Miner

Variants in gene SH3PXD2B 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
246 7 0 5 9 0 0 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
pathogenic 0 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 6 3
likely benign 0 0 6 0 4
benign 0 0 3 4 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_001017995.3(SH3PXD2B):c.1062+15G>A rs111572530
NM_001017995.3(SH3PXD2B):c.1063-7G>T rs186443822
NM_001017995.3(SH3PXD2B):c.1063-9_1063-8delinsCT rs797044638
NM_001017995.3(SH3PXD2B):c.1398C>T (p.Pro466=) rs140209484
NM_001017995.3(SH3PXD2B):c.1542C>T (p.Pro514=) rs780292269
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=) rs144228973
NM_001017995.3(SH3PXD2B):c.1612GAGCGG[2] (p.538ER[2]) rs534091900
NM_001017995.3(SH3PXD2B):c.1955C>T (p.Thr652Met) rs148050566
NM_001017995.3(SH3PXD2B):c.2477C>T (p.Pro826Leu) rs73317796
NM_001017995.3(SH3PXD2B):c.2541C>T (p.Ala847=) rs143850475
NM_001017995.3(SH3PXD2B):c.698C>T (p.Thr233Ile) rs149519060
NM_001017995.3(SH3PXD2B):c.785+4C>G rs369555721
NM_001017995.3(SH3PXD2B):c.843G>A (p.Glu281=) rs138021995
NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs) rs794728006

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