CSF1R NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr)

CI-VAR-00006711Explore in graph →p.Ile794ThrNM_001288705.3:c.2381T>CClinVar 29813 rs281860274

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
29813	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Hereditary diffuse leukoencephalopathy with spheroids; CSF1R-related disorder; Leukoencephalopathy, diffuse hereditary, with spheroids 1	germline	10	Jan 26, 2026	clinvar