ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2997C>T (p.Arg999=)

gnomAD frequency: 0.00001  dbSNP: rs371603625
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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 RCV002065661 SCV002391105 likely benign RYR1-related disorder 2022-04-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003151 SCV004830741 likely benign Malignant hyperthermia, susceptibility to, 1 2024-01-11 criteria provided, single submitter clinical testing

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