COL6A3 NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=)

CI-VAR-00018205Explore in graph →p.Glu2327=NM_004369.4:c.6981A>GClinVar 94977 rs35993209

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
94977	Benign	criteria provided, multiple submitters, no conflicts	2	Collagen 6-related myopathy; Bethlem myopathy 1A; Colon adenocarcinoma; Nonpapillary renal cell carcinoma; Ovarian serous cystadenocarcinoma	germline	12	Feb 02, 2026	clinvar