ELANE NM_001972.4(ELANE):c.182C>T (p.Ala61Val)

CI-VAR-00417005Explore in graph →p.Ala61ValNM_001972.4:c.182C>TClinVar 16740 rs137854447

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
16740	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant; Autoinflammatory syndrome; Non-Fanconi anemia cytopenia; Fanconi anaemia or Bloom syndrome; ELANE-related disorders	germline	6	Sep 02, 2026	clinvar