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

dbSNP: rs76335820

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	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	Episodic kinesigenic dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311740	SCV000845845	benign	Inborn genetic diseases	2016-07-07	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000224146	SCV001150889	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	PRRT2: PM5, BS1, BS2
Athena Diagnostics	RCV000082646	SCV001475995	benign	not specified	2019-12-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002505010	SCV002810577	likely benign	Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis	2021-08-13	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000224146	SCV001740471	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224146	SCV001799297	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000224146	SCV001930543	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000224146	SCV001956807	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Strasbourg University Hospital	RCV002274919	SCV002562840	uncertain significance	Seizure		no assertion criteria provided	clinical testing