CEP290 NM_025114.4(CEP290):c.6820A>G (p.Met2274Val)

CI-VAR-00221335Explore in graph →p.Met2274ValNM_025114.4:c.6820A>GClinVar 1487444 rs1326611388

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
1487444	Uncertain significance	criteria provided, single submitter	1	Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome; Malignant tumor of esophagus	germline	2	Nov 13, 2021	clinvar