ERCC2 NM_000400.4(ERCC2):c.594+2_594+5del

CI-VAR-00058568Explore in graph →NM_000400.4:c.594+2_594+5delClinVar 402226 rs762309206

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
402226	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Trichothiodystrophy 1, photosensitive; Xeroderma pigmentosum, group D; Xeroderma pigmentosum; Cerebrooculofacioskeletal syndrome 2; ERCC2-related disorder	germline	10	Jan 18, 2026	clinvar