ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) (rs76335820)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082646 SCV000114688 benign not specified 2013-05-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000082646 SCV000152395 benign not specified 2015-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000082646 SCV000171201 benign not specified 2013-12-11 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224146 SCV000280979 likely benign not provided 2016-04-21 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001082873 SCV000291480 benign Paroxysmal kinesigenic dyskinesia 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715024 SCV000845845 benign History of neurodevelopmental disorder 2016-07-07 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224146 SCV001150889 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing

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