COL6A1 NM_001848.3(COL6A1):c.1741-6G>A

CI-VAR-00093027Explore in graph →NM_001848.3:c.1741-6G>AClinVar 502579 rs200334019

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
502579	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Squamous cell carcinoma of the head and neck	germline	7	Feb 24, 2025	clinvar