ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7608G>A (p.Leu2536=)

gnomAD frequency: 0.00001  dbSNP: rs201686887
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000399280 SCV000344495 uncertain significance not provided 2016-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078881 SCV001013336 likely benign RYR1-related disorder 2024-10-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995792 SCV004824652 likely benign Malignant hyperthermia, susceptibility to, 1 2023-11-30 criteria provided, single submitter clinical testing

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