Submissions for variant NM_001005242.3(PKP2):c.2121G>A (p.Ser707=)

gnomAD frequency: 0.00004  dbSNP: rs139098675

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000474927	SCV000557340	likely benign	Arrhythmogenic right ventricular dysplasia 9	2023-10-14	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000474927	SCV000744695	likely benign	Arrhythmogenic right ventricular dysplasia 9	2015-09-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171156	SCV001333840	likely benign	Cardiomyopathy	2019-03-18	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001171156	SCV001349548	likely benign	Cardiomyopathy	2019-04-26	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000474927	SCV001472353	likely benign	Arrhythmogenic right ventricular dysplasia 9	2019-11-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001706099	SCV001858031	likely benign	not provided	2021-05-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444677	SCV002733465	likely benign	Cardiovascular phenotype	2020-12-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001706100	SCV004020983	likely benign	not specified	2023-06-25	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003995646	SCV004845927	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2023-12-13	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000474927	SCV000733158	likely benign	Arrhythmogenic right ventricular dysplasia 9		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001706100	SCV001918698	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001706099	SCV001951886	likely benign	not provided		no assertion criteria provided	clinical testing