ClinVar Miner

Variants in gene PITX2 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
67 40 0 11 11 0 1 22

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 0 0 1
uncertain significance 0 0 0 11
likely benign 0 0 0 11
benign 1 11 11 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
NM_000325.6(PITX2):c.*340A>G rs551209662
NM_000325.6(PITX2):c.*454C>T rs6533526
NM_000325.6(PITX2):c.206-9C>T rs367757020
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) rs201628949
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743
NM_000325.6(PITX2):c.618T>G (p.Ser206=) rs35946364
NM_000325.6(PITX2):c.619A>G (p.Met207Val) rs138163892
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851
NM_000325.6(PITX2):c.862C>T (p.Leu288=) rs139401187
NM_153427.2(PITX2):c.46+8C>G rs199896960

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