ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.624C>T (p.Cys208=)

gnomAD frequency: 0.00001  dbSNP: rs746914281
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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) RCV000179769 SCV000232073 uncertain significance not provided 2015-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001398766 SCV001600541 likely benign RYR1-related disorder 2024-10-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004806166 SCV005430452 likely benign Malignant hyperthermia, susceptibility to, 1 2024-07-29 criteria provided, single submitter clinical testing

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