ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11523G>A (p.Leu3841=)

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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 RCV003757834 SCV004464228 likely benign RYR1-related disorder 2023-05-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004011724 SCV004836034 likely benign Malignant hyperthermia, susceptibility to, 1 2023-11-20 criteria provided, single submitter clinical testing

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