Variant · Other
RB1 NM_000321.3(RB1):c.1060_1061del (p.Gln354fs)
CI-VAR-00019348Explore in graph →p.Gln354fsNM_000321.3:c.1060_1061delClinVar 126828 rs587778829
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 |
|---|---|---|---|---|---|---|---|---|
| 126828 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Retinoblastoma; Hereditary cancer-predisposing syndrome; RB1-related disorder | germline | 4 | May 20, 2024 | clinvar |