ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.4088C>T (p.Ala1363Val) (rs774603798)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000433282 SCV000511667 uncertain significance not provided 2016-09-13 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000505704 SCV000234966 likely benign not specified 2018-01-03 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.
Invitae RCV000655717 SCV000777648 benign RYR1-Related Disorders 2017-09-28 criteria provided, single submitter clinical testing
PreventionGenetics RCV000433282 SCV000852601 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing

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