JAG1 NM_000214.3(JAG1):c.388-4G>C

CI-VAR-00054311Explore in graph →NM_000214.3:c.388-4G>CClinVar 337759 rs567027490

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
337759	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Isolated Nonsyndromic Congenital Heart Disease; Alagille syndrome due to a JAG1 point mutation; Cardiovascular phenotype; Charcot-Marie-Tooth disease, axonal, Type 2HH; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Clear cell carcinoma of kidney	germline	9	May 01, 2026	clinvar