ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12813C>T (p.Gly4271=)

gnomAD frequency: 0.00004  dbSNP: rs750757411
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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 RCV002210009 SCV002370478 likely benign RYR1-related disorder 2023-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486835 SCV002801995 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 2021-09-09 criteria provided, single submitter clinical testing

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