COL6A3 NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)

CI-VAR-00018202Explore in graph →p.Lys1754ArgNM_004369.4:c.5261A>GClinVar 94945 rs77632596

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
94945	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Collagen 6-related myopathy; Bethlem myopathy 1A; Nonpapillary renal cell carcinoma; Sarcoma; Thyroid cancer, nonmedullary, 1; Clear cell carcinoma of kidney; Ovarian serous cystadenocarcinoma	germline	17	Jun 01, 2026	clinvar