CEP290 NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)

CI-VAR-00047439Explore in graph →p.Ile1836ValNM_025114.4:c.5506A>GClinVar 261849 rs11104729

Curated evidence

Evidence by cancer (0 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

Data not yet available

No curated evidence item references this variant yet.

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
261849	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Bardet-Biedl syndrome 14; Joubert syndrome 5; Leber congenital amaurosis 10; Senior-Loken syndrome 6; Meckel syndrome, type 4; Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome; Leber congenital amaurosis; Hepatocellular carcinoma	germline	13	Feb 01, 2026	clinvar