ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11892C>T (p.Leu3964=)

dbSNP: rs755656930
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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 RCV002180871 SCV002424762 likely benign RYR1-related disorder 2022-02-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005418 SCV004832687 likely benign Malignant hyperthermia, susceptibility to, 1 2024-06-09 criteria provided, single submitter clinical testing

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