CEP290 NM_025114.4(CEP290):c.4813-2A>G

CI-VAR-00070232Explore in graph →NM_025114.4:c.4813-2A>GClinVar 432415 rs369523378

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
432415	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis; Leber congenital amaurosis; Meckel syndrome, type 4; Leber congenital amaurosis 10; Joubert syndrome 5; Senior-Loken syndrome 6; Bardet-Biedl syndrome 14; CEP290-related disorder; Familial cancer of breast	germline	15	Jan 13, 2026	clinvar