ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1926-9C>T

gnomAD frequency: 0.00001  dbSNP: rs374960200
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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 RCV002126612 SCV002452788 likely benign RYR1-related disorder 2024-08-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004808219 SCV005430888 likely benign Malignant hyperthermia, susceptibility to, 1 2024-05-14 criteria provided, single submitter clinical testing

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