ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.6342C>T (p.Pro2114=)

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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 RCV003839155 SCV004636175 likely benign RYR1-related disorder 2023-11-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006112 SCV004833087 likely benign Malignant hyperthermia, susceptibility to, 1 2024-08-13 criteria provided, single submitter clinical testing

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