ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1925+19G>A

gnomAD frequency: 0.00003  dbSNP: rs764074598
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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 RCV002138576 SCV002451117 likely benign RYR1-related disorder 2023-11-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505810 SCV002796696 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 2021-09-30 criteria provided, single submitter clinical testing

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