SMARCB1 NM_003073.5(SMARCB1):c.689C>T (p.Pro230Leu)

CI-VAR-00212786Explore in graph →p.Pro230LeuNM_003073.5:c.689C>TClinVar 1449813 rs2146009762

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
1449813	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Hereditary cancer-predisposing syndrome; SMARCB1-related schwannomatosis; Intellectual disability, autosomal dominant 15; Rhabdoid tumor predisposition syndrome 1	germline	3	Nov 26, 2024	clinvar