ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.3868C>T (p.Leu1290=)

gnomAD frequency: 0.00002  dbSNP: rs745572367
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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 RCV001410309 SCV001612354 likely benign RYR1-related disorder 2023-12-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003038 SCV004823969 likely benign Malignant hyperthermia, susceptibility to, 1 2024-08-06 criteria provided, single submitter clinical testing

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