EFEMP2 NM_016938.5(EFEMP2):c.279C>T (p.Gly93=)

CI-VAR-00076457Explore in graph →p.Gly93=NM_016938.5:c.279C>TClinVar 472817 rs769750626

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
472817	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Cutis laxa, autosomal recessive, type 1B; Malignant tumor of urinary bladder; Cardiovascular phenotype	germline	3	Mar 27, 2024	clinvar