ClinVar Miner

Variants in gene PRPH2 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
322 42 0 11 4 0 6 21

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 10 2 1 0
likely pathogenic 10 0 3 0 0
uncertain significance 2 3 0 4 0
likely benign 1 0 4 0 1
benign 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771
NM_000322.5(PRPH2):c.331del (p.Ile111fs) rs1562434099
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln) rs554945964
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) rs121918563
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser) rs61755797
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) rs61755798
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu) rs986748364
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu) rs62645939
NM_000322.5(PRPH2):c.888C>T (p.Pro296=) rs183714869
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434

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