ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7560C>T (p.His2520=)

gnomAD frequency: 0.00006  dbSNP: rs749322590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540629 SCV000660029 likely benign RYR1-related disorder 2023-12-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497203 SCV002813206 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 2021-08-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999512 SCV004823467 likely benign Malignant hyperthermia, susceptibility to, 1 2023-10-27 criteria provided, single submitter clinical testing

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