ClinVar Miner

Variants in gene RPGRIP1L 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 Variants with at least 2 submissions 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 kind of conflict
111 70 1 19 14 1 3 31

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 risk factor
pathogenic 0 2 3 1 1 1
likely pathogenic 2 0 1 0 0 0
uncertain significance 3 1 0 12 5 1
likely benign 1 0 12 1 17 1
benign 1 0 5 17 0 1
risk factor 1 0 1 1 1 0

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_015272.2(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203
NM_015272.2(RPGRIP1L):c.697A>T (p.Lys233Ter) rs121918197
NM_015272.4(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026
NM_015272.4(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859
NM_015272.4(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747
NM_015272.4(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997
NM_015272.4(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202
NM_015272.4(RPGRIP1L):c.2153-4G>C rs201380599
NM_015272.4(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300
NM_015272.4(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677
NM_015272.4(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647
NM_015272.4(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476
NM_015272.4(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934
NM_015272.4(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712
NM_015272.4(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239
NM_015272.4(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291
NM_015272.4(RPGRIP1L):c.2959-15T>C rs11863101
NM_015272.4(RPGRIP1L):c.2959-32G>A rs7203525
NM_015272.4(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119
NM_015272.4(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926
NM_015272.4(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870
NM_015272.4(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292
NM_015272.4(RPGRIP1L):c.3616+7A>G rs373003699
NM_015272.4(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933
NM_015272.4(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758
NM_015272.4(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320
NM_015272.4(RPGRIP1L):c.482G>A (p.Arg161His) rs74957591
NM_015272.4(RPGRIP1L):c.530-29G>A rs74393433
NM_015272.4(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659
NM_015272.4(RPGRIP1L):c.632+16delT rs559978421
NM_015272.4(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071

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