ERCC2 NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)

CI-VAR-00021107Explore in graph →p.Phe568fsNM_000400.4:c.1703_1704delClinVar 134095 rs587778271

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
134095	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Xeroderma pigmentosum, group D; Cerebrooculofacioskeletal syndrome 2; Trichothiodystrophy 1, photosensitive; Xeroderma pigmentosum; Inborn genetic diseases; Leukodystrophy; ERCC2-related disorder	germline	16	Feb 02, 2026	clinvar