EFHC1 NM_018100.4(EFHC1):c.742A>G (p.Ile248Val)

CI-VAR-00146403Explore in graph →p.Ile248ValNM_018100.4:c.742A>GClinVar 837595 rs780571007

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
837595	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1; Epilepsy, juvenile absence, susceptibility to, 1; Malignant tumor of esophagus	germline	3	May 06, 2022	clinvar