CDH23 NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)

CI-VAR-00005440Explore in graph →p.Pro240LeuNM_022124.6:c.719C>TClinVar 4928 rs121908354

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
4928	Pathogenic	reviewed by expert panel	3	Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Nonsyndromic genetic hearing loss; Usher syndrome type 1; Pituitary adenoma 5, multiple types; autosomal recessive CDH23-related disorders	germline	11	Jul 22, 2019	clinvar