CDH23 NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)

CI-VAR-00197247Explore in graph →p.Asn1521SerNM_022124.6:c.4562A>GClinVar 1180612 rs780987516

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
1180612	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Autosomal recessive nonsyndromic hearing loss 12; Ear malformation; Pituitary adenoma 5, multiple types; Usher syndrome type 1D; Usher syndrome type 1; CDH23-related disorder	germline	11	Jan 16, 2026	clinvar