COL7A1 NM_000094.4(COL7A1):c.682+1G>A

CI-VAR-00055374Explore in graph →NM_000094.4:c.682+1G>AClinVar 372329 rs775288140

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
372329	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Recessive dystrophic epidermolysis bullosa; Malignant tumor of esophagus; Epidermolysis bullosa dystrophica; COL7A1-related disorder	germline	10	Aug 27, 2026	clinvar