CEP290 NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)

CI-VAR-00049662Explore in graph →p.Glu1935TerNM_025114.4:c.5803G>TClinVar 282259 rs886042360

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
282259	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Leber congenital amaurosis; Nephronophthisis; Joubert syndrome; Meckel-Gruber syndrome; Bardet-Biedl syndrome 14; CEP290-related disorder; Thyroid cancer, nonmedullary, 1	germline	8	Jun 20, 2025	clinvar