ERCC6L2 NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter)

CI-VAR-00018584Explore in graph →p.Arg644TerNM_020207.7:c.1930C>TClinVar 125449 rs147948835

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
125449	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Pancytopenia-developmental delay syndrome; Hereditary cancer-predisposing syndrome; ERCC6L2-related disorders	germline	13	Jul 15, 2026	clinvar