CDH23 NM_022124.6(CDH23):c.5712G>A (p.Thr1904=)

CI-VAR-00008692Explore in graph →p.Thr1904=NM_022124.6:c.5712G>AClinVar 45989 rs397517342

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
45989	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Rare genetic deafness; Usher syndrome type 1; Pituitary adenoma 5, multiple types; CDH23-related disorder	germline	5	Aug 11, 2025	clinvar