ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9333G>T (p.Arg3111=)

gnomAD frequency: 0.00001  dbSNP: rs765039553
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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 RCV002140030 SCV002456669 likely benign RYR1-related disorder 2023-11-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004804392 SCV005425197 likely benign Malignant hyperthermia, susceptibility to, 1 2024-06-17 criteria provided, single submitter clinical testing

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