ClinVar Miner

Variants in gene PRRT2 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
285 9 0 10 9 0 2 19

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 2 1 1 0
likely pathogenic 2 0 0 0 0
uncertain significance 1 0 0 8 3
likely benign 1 0 8 0 8
benign 0 0 3 8 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
NM_145239.3(PRRT2):c.1013-29C>T rs745834081
NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala) rs144540943
NM_145239.3(PRRT2):c.225G>A (p.Pro75=) rs199662641
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) rs886041327
NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr) rs201636905
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085
NM_145239.3(PRRT2):c.564G>A (p.Gln188=) rs545201760
NM_145239.3(PRRT2):c.612C>G (p.Pro204=) rs149260055
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro) rs745594874
NM_145239.3(PRRT2):c.645C>T (p.Pro215=) rs183683129
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg) rs76335820
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655
NM_145239.3(PRRT2):c.755C>G (p.Ala252Gly) rs1053144630
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu) rs560303559
NM_145239.3(PRRT2):c.879+6C>A rs201887920
NM_145239.3(PRRT2):c.912C>T (p.Asp304=) rs759633234

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