ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) (rs140383655)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118066 SCV000152396 uncertain significance not provided 2014-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000419461 SCV000514279 likely benign not specified 2017-12-01 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 RCV001081520 SCV000554855 likely benign Paroxysmal kinesigenic dyskinesia 2020-11-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000118066 SCV000614796 benign not provided 2018-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715035 SCV000845858 likely benign History of neurodevelopmental disorder 2018-09-08 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000118066 SCV001740662 likely benign not provided no assertion criteria provided clinical testing

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