ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5460C>T (p.Arg1820=)

dbSNP: rs1193082244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478995 SCV001683278 likely benign RYR1-related disorder 2023-08-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495217 SCV002801568 likely benign Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-09-29 criteria provided, single submitter clinical testing

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