EFEMP2 NM_016938.5(EFEMP2):c.1094C>T (p.Ala365Val)

CI-VAR-00212426Explore in graph →p.Ala365ValNM_016938.5:c.1094C>TClinVar 1419689 rs768004972

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
1419689	Uncertain significance	criteria provided, single submitter	1	Cutis laxa, autosomal recessive, type 1B; Thyroid cancer, nonmedullary, 1	germline	2	May 17, 2022	clinvar