ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1068C>T (p.Leu356=)

gnomAD frequency: 0.00002  dbSNP: rs770069138
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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 RCV002118514 SCV002445809 likely benign RYR1-related disorder 2025-01-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005453 SCV004823258 likely benign Malignant hyperthermia, susceptibility to, 1 2023-11-20 criteria provided, single submitter clinical testing

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