COL12A1 NM_004370.6(COL12A1):c.5493A>G (p.Glu1831=)

CI-VAR-00146407Explore in graph →p.Glu1831=NM_004370.6:c.5493A>GClinVar 864352 rs747217911

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
864352	Likely benign	criteria provided, single submitter	1	Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2; Sarcoma	germline	2	Jul 22, 2025	clinvar