EFHC1 NM_018100.4(EFHC1):c.1665C>T (p.Gly555=)

CI-VAR-00096347Explore in graph →p.Gly555=NM_018100.4:c.1665C>TClinVar 534103 rs369201702

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
534103	Likely benign	criteria provided, single submitter	1	Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1; Uterine corpus endometrial carcinoma	germline	2	Nov 27, 2023	clinvar