ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2931G>A (p.Thr977=)

gnomAD frequency: 0.00001  dbSNP: rs771471004
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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 RCV001479341 SCV001683636 likely benign RYR1-related disorder 2024-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501655 SCV002805910 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 2021-08-17 criteria provided, single submitter clinical testing

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