CEP290 NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)

CI-VAR-00019073Explore in graph →p.Lys1373=NM_025114.4:c.4119A>GClinVar 126258 rs117122459

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
126258	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Bardet-Biedl syndrome 14; Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome; Leber congenital amaurosis; Kidney disorder; Uterine corpus endometrial carcinoma; Malignant tumor of esophagus; Cervical cancer; Sarcoma; Ovarian serous cystadenocarcinoma; Thymoma; Hepatocellular carcinoma	germline	16	Jun 26, 2026	clinvar