ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10344C>A (p.Ser3448=)

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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 RCV003756759 SCV004520594 likely benign RYR1-related disorder 2023-09-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005833 SCV004830146 likely benign Malignant hyperthermia, susceptibility to, 1 2023-06-08 criteria provided, single submitter clinical testing

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