Variant · Snv
RYR1 NM_000540.3(RYR1):c.9385C>T (p.Leu3129Phe)
CI-VAR-00092999Explore in graph →p.Leu3129PheNM_000540.3:c.9385C>TClinVar 500420 rs143445685
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 |
|---|---|---|---|---|---|---|---|---|
| 500420 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | RYR1-related disorder; Malignant hyperthermia, susceptibility to, 1 | germline | 5 | Jan 26, 2026 | clinvar |