SMARCB1 NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)

CI-VAR-00006736Explore in graph →p.Lys364delNM_003073.5:c.1085AGA[2]ClinVar 30201 rs875989800

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
30201	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Intellectual disability, autosomal dominant 15; Hereditary cancer-predisposing syndrome; Rhabdoid tumor predisposition syndrome 1; SMARCB1-related schwannomatosis; Neoplasm; SMARCB1-Related Coffin-Siris Syndrome	germline/somatic	12	Jan 28, 2025	clinvar