CTC1 NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del)

CI-VAR-00007956Explore in graph →p.Cys985delNM_025099.6:c.2951GTT[1]ClinVar 40250 rs199473679

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
40250	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Cerebroretinal microangiopathy with calcifications and cysts 1; Coats plus syndrome; Dyskeratosis congenita; CTC1-related disorder	germline	10	Jan 25, 2026	clinvar