RYR1 NM_000540.3(RYR1):c.9007C>T (p.Leu3003Phe)

CI-VAR-00213927Explore in graph →p.Leu3003PheNM_000540.3:c.9007C>TClinVar 1421397 rs1970687243

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
1421397	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	RYR1-related disorder; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome; Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Inborn genetic diseases	germline	6	Oct 07, 2025	clinvar