ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9686-8T>C

gnomAD frequency: 0.00002  dbSNP: rs755786200
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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 RCV000861461 SCV001001783 likely benign RYR1-related disorder 2024-01-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002910 SCV004815792 likely benign Malignant hyperthermia, susceptibility to, 1 2023-11-02 criteria provided, single submitter clinical testing

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