CDH23 NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs)

CI-VAR-00183498Explore in graph →p.His1769fsNM_022124.6:c.5300_5303dupClinVar 1070502 rs2132929769

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
1070502	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Usher syndrome; Autosomal recessive nonsyndromic hearing loss 12; Pituitary adenoma 5, multiple types; Usher syndrome type 1D; CDH23-related disorder	germline	4	Jun 10, 2024	clinvar