ClinVar Miner

Variants in gene RPGRIP1 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
403 23 2 6 4 0 5 15

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

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259
NM_020366.3(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703
NM_020366.3(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949
NM_020366.3(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766
NM_020366.3(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701
NM_020366.3(RPGRIP1):c.2367+23del rs781728563
NM_020366.3(RPGRIP1):c.2435G>A (p.Arg812Gln) rs190490019
NM_020366.3(RPGRIP1):c.2465_2468dup (p.Ala824fs)
NM_020366.3(RPGRIP1):c.2480G>T (p.Arg827Leu) rs28937883
NM_020366.3(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931
NM_020366.3(RPGRIP1):c.2662C>T (p.Arg888Ter) rs1030149008
NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
NM_020366.3(RPGRIP1):c.930+3A>G rs150107283
NM_020366.3(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462

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