Submissions for variant NM_001005242.3(PKP2):c.1557-8dup

dbSNP: rs200009796

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038179	SCV000061846	benign	not specified	2015-09-29	criteria provided, single submitter	clinical testing	c.1689-8dupT in intron 7 of PKP2: This variant is not expected to have clinical significance because it has been identified in 1% (74/6604) of Finnish chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org/; d bSNP rs200009796).
Eurofins Ntd Llc (ga)	RCV000038179	SCV000232664	benign	not specified	2014-10-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232257	SCV000288598	benign	Arrhythmogenic right ventricular dysplasia 9	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000232257	SCV000743453	benign	Arrhythmogenic right ventricular dysplasia 9	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000232257	SCV000744698	benign	Arrhythmogenic right ventricular dysplasia 9	2015-09-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776088	SCV000910856	benign	Cardiomyopathy	2018-04-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001529943	SCV001916877	benign	not provided	2015-03-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529943	SCV002585384	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	PKP2: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003891482	SCV000310492	benign	PKP2-related disorder	2019-10-29	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529943	SCV001744305	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038179	SCV001957709	benign	not specified		no assertion criteria provided	clinical testing