CEP290 NM_025114.4(CEP290):c.4437+1G>A

CI-VAR-00049749Explore in graph →NM_025114.4:c.4437+1G>AClinVar 285948 rs760915898

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
285948	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Meckel-Gruber syndrome; Nephronophthisis; Joubert syndrome; CEP290-related disorder; Bardet-Biedl syndrome 14; Meckel syndrome, type 4; Joubert syndrome 5; Senior-Loken syndrome 6; Leber congenital amaurosis 10; Leber congenital amaurosis; Uterine carcinosarcoma	germline	11	Dec 22, 2025	clinvar