SMARCB1 NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)

CI-VAR-00054800Explore in graph →p.Ala203ThrNM_003073.5:c.607G>AClinVar 340912 rs762962010

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
340912	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	SMARCB1-related schwannomatosis; Rhabdoid tumor predisposition syndrome 1; Rhabdoid tumor predisposition syndrome 2; Hereditary cancer-predisposing syndrome; Intellectual disability, autosomal dominant 15	germline	6	Jan 27, 2026	clinvar