CDH23 NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)

CI-VAR-00008699Explore in graph →p.Thr2454=NM_022124.6:c.7362G>AClinVar 46029 rs370983472

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
46029	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Rare genetic deafness; Usher syndrome type 1; Usher syndrome type 1D; Usher syndrome; Pituitary adenoma 5, multiple types; Retinal dystrophy; CDH23-related disorder	germline	10	Jan 12, 2026	clinvar