ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.8541+34C>T (rs2960342)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000119750 SCV000969921 benign not provided 2018-06-14 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) RCV000119750 SCV000154657 not provided not provided no assertion provided not provided
PreventionGenetics RCV000254314 SCV000305049 benign not specified 2013-10-25 criteria provided, single submitter clinical testing

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