CEP290 NM_025114.4(CEP290):c.6645+1G>A

CI-VAR-00049853Explore in graph →NM_025114.4:c.6645+1G>AClinVar 290046 rs201218801

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
290046	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Joubert syndrome 5; Meckel-Gruber syndrome; Nephronophthisis; Joubert syndrome; Meckel syndrome, type 4; Bardet-Biedl syndrome 14; Senior-Loken syndrome 6; Leber congenital amaurosis 10; Inborn genetic diseases; CEP290-related disorder; Malignant tumor of urinary bladder; Retinal disorder	germline	14	Jan 20, 2026	clinvar