ClinVar Miner

Variants in gene CRB1 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 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
131 55 1 12 3 0 6 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 1 4 1 2 0
likely pathogenic 4 0 3 2 0
uncertain significance 1 3 0 3 0
likely benign 2 2 3 0 8
benign 0 0 0 8 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_001257965.1(CRB1):c.291_299delAATTGATGG (p.Ile98_Gly100del) rs398124615
NM_201253.2(CRB1):c.*28T>C rs41302107
NM_201253.2(CRB1):c.1006T>C (p.Cys336Arg) rs878853370
NM_201253.2(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.2(CRB1):c.135C>G (p.Cys45Trp) rs145141811
NM_201253.2(CRB1):c.1533C>T (p.Ala511=) rs142224492
NM_201253.2(CRB1):c.2103C>G (p.Pro701=) rs144436610
NM_201253.2(CRB1):c.2306G>A (p.Arg769His) rs62636287
NM_201253.2(CRB1):c.2307C>T (p.Arg769=) rs151104285
NM_201253.2(CRB1):c.2677-8C>T rs73071678
NM_201253.2(CRB1):c.2714G>A (p.Arg905Gln) rs114052315
NM_201253.2(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201253.2(CRB1):c.3992G>A (p.Arg1331His) rs62636285
NM_201253.2(CRB1):c.484G>A (p.Val162Met) rs137853138
NM_201253.2(CRB1):c.584G>T (p.Cys195Phe) rs764256655
NM_201253.2(CRB1):c.600A>G (p.Thr200=) rs77713666
NM_201253.2(CRB1):c.614T>C (p.Ile205Thr) rs62645749
NM_201253.2(CRB1):c.99G>T (p.Arg33Ser) rs59691602
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) rs115352681

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