EVC2 NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)

CI-VAR-00071734Explore in graph →p.Gln570TerNM_147127.5:c.1708C>TClinVar 446664 rs769864196

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
446664	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Short-rib thoracic dysplasia 6 with or without polydactyly; Type IV short rib polydactyly syndrome; Ellis-van Creveld syndrome; Curry-Hall syndrome; Familial cancer of breast; EVC2-related disorders	germline	12	Dec 29, 2025	clinvar