Variant · Snv
RYR1 NM_000540.3(RYR1):c.10348-6C>G
CI-VAR-00013727Explore in graph →NM_000540.3:c.10348-6C>GClinVar 132994 rs193922837
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
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 132994 | Pathogenic | reviewed by expert panel | 3 | RYR1-related disorder; Inborn genetic diseases; King Denborough syndrome; Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Myopathy, RYR1-associated; Centronuclear myopathy; Congenital multicore myopathy with external ophthalmoplegia; RYR1-related myopathy | germline | 20 | May 19, 2025 | clinvar |