CBL NM_005188.4(CBL):c.513T>C (p.Ser171=)

CI-VAR-00008602Explore in graph →p.Ser171=NM_005188.4:c.513T>CClinVar 45209 rs2227987

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
45209	Benign	criteria provided, multiple submitters, no conflicts	2	RASopathy; CBL-related disorder; Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; Juvenile myelomonocytic leukemia	germline	14	Feb 03, 2026	clinvar