COL6A2 NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter)

CI-VAR-00006676Explore in graph →p.Arg366TerNM_001849.4:c.1096C>TClinVar 29643 rs387906609

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
29643	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Bethlem myopathy 1A; BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE; Uterine corpus endometrial carcinoma	germline	7	Oct 25, 2024	clinvar