ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11481C>T (p.Phe3827=)

gnomAD frequency: 0.00001  dbSNP: rs1230581832
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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 RCV001468457 SCV001672510 likely benign RYR1-related disorder 2023-11-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004804188 SCV005425303 likely benign Malignant hyperthermia, susceptibility to, 1 2024-03-24 criteria provided, single submitter clinical testing

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