RYR1 NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln)

CI-VAR-00020670Explore in graph →p.Glu3583GlnNM_000540.3:c.10747G>CClinVar 132999 rs55876273

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
132999	Benign	reviewed by expert panel	3	Malignant hyperthermia, susceptibility to, 1; Malignant hypothermia; RYR1-related disorder; Congenital multicore myopathy with external ophthalmoplegia; Central core myopathy; King Denborough syndrome; Congenital myopathy with fiber type disproportion	germline	20	Mar 17, 2021	clinvar