RYR1 NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)

CI-VAR-00020665Explore in graph →p.Arg3366HisNM_000540.3:c.10097G>AClinVar 132990 rs137932199

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
132990	Likely benign	reviewed by expert panel	3	Multiminicore/minicore/multicore disease; Malignant hyperthermia, susceptibility to, 1; RYR1-related disorder; Congenital myopathy with fiber type disproportion; Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome; RYR1-related myopathy	germline	30	Mar 14, 2022	clinvar