ClinVar Miner

Variants in gene PDHX with conflicting interpretations

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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
120 24 0 6 7 0 1 13

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 3 5
likely benign 0 3 0 6
benign 0 5 6 0

All variants with conflicting interpretations #

Total variants: 13
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NM_003477.3(PDHX):c.1333T>G (p.Phe445Val) rs147948716
NM_003477.3(PDHX):c.161-6T>C rs200438675
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998
NM_003477.3(PDHX):c.474G>A (p.Glu158=) rs148723565
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser) rs118136428
NM_003477.3(PDHX):c.579A>G (p.Glu193=) rs61752926
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284
NM_003477.3(PDHX):c.618C>G (p.Gly206=) rs143997835
NM_003477.3(PDHX):c.640G>C (p.Glu214Gln) rs146445744
NM_003477.3(PDHX):c.674C>T (p.Thr225Met) rs148645836
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile) rs146876119
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997

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