ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.1841G>T (p.Arg614Leu) (rs193922772)

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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 RCV000119587 SCV000226579 pathogenic not provided 2013-12-18 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119587 SCV000154494 not provided not provided no assertion provided not provided
PreventionGenetics RCV000119587 SCV000852496 pathogenic not provided 2018-02-19 criteria provided, single submitter clinical testing

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