COL7A1 NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=)

CI-VAR-00126923Explore in graph →p.Pro2397=NM_000094.4:c.7191C>AClinVar 783308 rs34360255

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
783308	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Epidermolysis bullosa dystrophica inversa, autosomal recessive; Epidermolysis bullosa dystrophica; COL7A1-related disorder; Malignant tumor of esophagus; Melanoma; Uterine corpus endometrial carcinoma; Ovarian serous cystadenocarcinoma; Uterine carcinosarcoma	germline	10	Feb 04, 2026	clinvar