ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7416C>G (p.Leu2472=)

gnomAD frequency: 0.00001  dbSNP: rs932151684
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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 RCV001438120 SCV001640988 likely benign RYR1-related disorder 2023-08-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003150 SCV004815873 likely benign Malignant hyperthermia, susceptibility to, 1 2024-07-20 criteria provided, single submitter clinical testing

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