CDH23 NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)

CI-VAR-00298905Explore in graph →p.Ser384ArgNM_022124.6:c.1152C>AClinVar 2501245 rs2493815701

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
2501245	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Usher syndrome; Pituitary adenoma 5, multiple types; Usher syndrome type 1D; Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1; CDH23-related disorder	germline	7	Jun 27, 2024	clinvar