ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu) (rs560303559)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000368601 SCV000337278 benign not specified 2015-11-19 criteria provided, single submitter clinical testing
GeneDx RCV000368601 SCV000516062 likely benign not specified 2017-06-02 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 RCV000463630 SCV000554858 likely benign Paroxysmal kinesigenic dyskinesia 2020-11-23 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001249313 SCV001423276 not provided Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 05-24-2016 by Lab or GTR ID 506900. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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