ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg) (rs200926711)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188769 SCV000242393 likely benign not specified 2017-10-03 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 RCV000477236 SCV000554854 benign Paroxysmal kinesigenic dyskinesia 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718084 SCV000848946 likely benign History of neurodevelopmental disorder 2018-05-02 criteria provided, single submitter clinical testing Insufficient evidence;Subpopulation frequency in support of benign classification;Does not segregate with disease in family study (genes with incomplete penetrance)

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