ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7771C>G (p.Arg2591Gly) (rs193922822)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079169 SCV000111038 uncertain significance not provided 2013-08-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079169 SCV000852791 uncertain significance not provided 2018-09-25 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000079169 SCV000154633 not provided not provided no assertion provided not provided

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