PDGFRA NM_006206.6(PDGFRA):c.2998C>G (p.Leu1000Val)

CI-VAR-00104146Explore in graph →p.Leu1000ValNM_006206.6:c.2998C>GClinVar 568217 rs568721384

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
568217	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome; PDGFRA-related disorder; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	germline	6	Jan 19, 2026	clinvar