GATA2 NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp)

CI-VAR-00133664Explore in graph →p.Arg396TrpNM_032638.5:c.1186C>TClinVar 800683 rs1576744529

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
800683	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	GATA2 deficiency with susceptibility to MDS/AML; Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections; Inborn genetic diseases; GATA2-related disorder	germline	7	Dec 02, 2025	clinvar