CDH23 NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)

CI-VAR-00071724Explore in graph →p.Arg2029TrpNM_022124.6:c.6085C>TClinVar 446446 rs750880909

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
446446	Pathogenic	reviewed by expert panel	3	Autosomal recessive nonsyndromic hearing loss 12; Nonsyndromic genetic hearing loss; Pituitary adenoma 5, multiple types; Usher syndrome type 1D; Syndromic retinitis pigmentosa; Usher syndrome type 1; CDH23-related disorder	germline	10	Jun 26, 2023	clinvar