ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2794C>T (p.Leu932=)

dbSNP: rs2514083674
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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 RCV003757660 SCV004501929 likely benign RYR1-related disorder 2023-03-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004011710 SCV004840691 likely benign Malignant hyperthermia, susceptibility to, 1 2023-12-18 criteria provided, single submitter clinical testing

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