SMCHD1 NM_015295.3(SMCHD1):c.47C>G (p.Thr16Ser)

CI-VAR-00298559Explore in graph →p.Thr16SerNM_015295.3:c.47C>GClinVar 2481908 rs146441077

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
2481908	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Inborn genetic diseases; Clear cell carcinoma of kidney; Facioscapulohumeral muscular dystrophy 2	germline	3	May 26, 2025	clinvar