RUNX1 NM_001754.5(RUNX1):c.388G>C (p.Val130Leu)

CI-VAR-00353690Explore in graph →p.Val130LeuNM_001754.5:c.388G>CClinVar 3343281

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
3343281	Uncertain significance	reviewed by expert panel	3	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome; Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1; Inborn genetic diseases	germline	4	Oct 29, 2024	clinvar