ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10476A>G (p.Glu3492=)

gnomAD frequency: 0.00007  dbSNP: rs767496164
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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 RCV001456371 SCV001660149 likely benign RYR1-related disorder 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501598 SCV002805962 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 2021-09-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007061 SCV004819169 likely benign Malignant hyperthermia, susceptibility to, 1 2024-02-05 criteria provided, single submitter clinical testing

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