ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.3318C>G (p.Pro1106=)

dbSNP: rs377584912
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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 RCV001408596 SCV001610598 likely benign RYR1-related disorder 2021-06-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006912 SCV004821426 likely benign Malignant hyperthermia, susceptibility to, 1 2023-03-23 criteria provided, single submitter clinical testing

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