RYR1 NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del)

CI-VAR-00101514Explore in graph →p.Leu1714delNM_001042723.1:c.5140_5142delClinVar 548508 rs1438501767

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.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
548508	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Congenital multicore myopathy with external ophthalmoplegia; Malignant hyperthermia, susceptibility to, 1; Central core myopathy; RYR1-related disorder	germline	4	Jul 13, 2026	clinvar