Variant · Snv
CDH23 NM_022124.6(CDH23):c.2842G>T (p.Val948Phe)
CI-VAR-00224477Explore in graph →p.Val948PheNM_022124.6:c.2842G>TClinVar 1490908 rs2132740122
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 1490908 | Uncertain significance | criteria provided, multiple submitters, no conflicts | 2 | Pituitary adenoma 5, multiple types; Usher syndrome type 1D; Autosomal recessive nonsyndromic hearing loss 12; Inborn genetic diseases | germline | 3 | Jun 22, 2022 | clinvar |