ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7836-12A>G

gnomAD frequency: 0.00003  dbSNP: rs750768318
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002136527 SCV002466254 likely benign RYR1-related disorder 2025-01-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003514542 SCV004358140 likely benign Malignant hyperthermia, susceptibility to, 1 2022-12-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003514542 SCV004815788 likely benign Malignant hyperthermia, susceptibility to, 1 2024-08-31 criteria provided, single submitter clinical testing

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