COL12A1 NM_004370.6(COL12A1):c.3099T>G (p.His1033Gln)

CI-VAR-00376715Explore in graph →p.His1033GlnNM_004370.6:c.3099T>GClinVar 3761575

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
3761575	Uncertain significance	criteria provided, single submitter	1	Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2; Colorectal cancer	germline	2	Jun 04, 2025	clinvar