ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14052T>C (p.Phe4684=)

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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 RCV002932863 SCV003260629 likely benign RYR1-related disorder 2022-11-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007690 SCV004818826 likely benign Malignant hyperthermia, susceptibility to, 1 2023-03-23 criteria provided, single submitter clinical testing

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