Variant · Snv
CDH23 NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
CI-VAR-00008695Explore in graph →p.Pro2205LeuNM_022124.6:c.6614C>TClinVar 46014 rs397517349
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.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 46014 | Uncertain significance | reviewed by expert panel | 3 | Inborn genetic diseases; Usher syndrome; Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types; Rare genetic deafness; Monogenic hearing loss; Usher syndrome type 1; CDH23-related disorder | germline | 11 | Nov 15, 2023 | clinvar |