ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7323+20C>A (rs2234709)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079163 SCV000111032 benign not specified 2013-05-07 criteria provided, single submitter clinical testing
GeneDx RCV000079163 SCV000518382 benign not specified 2015-08-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Leiden Muscular Dystrophy (RYR1) RCV000119703 SCV000154610 not provided not provided no assertion provided not provided
PreventionGenetics RCV000079163 SCV000305003 benign not specified 2018-03-29 criteria provided, single submitter clinical testing

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