Variant · Snv
CIB2 NM_006383.4(CIB2):c.196C>T (p.Arg66Trp)
CI-VAR-00182668Explore in graph →p.Arg66TrpNM_006383.4:c.196C>TClinVar 1064924 rs780168150
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 |
|---|---|---|---|---|---|---|---|---|
| 1064924 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Hearing impairment; Malignant tumor of esophagus; Retinal dystrophy; Autosomal recessive nonsyndromic hearing loss 48; CIB2-related disorders | germline | 6 | Jul 28, 2025 | clinvar |