Submissions for variant NM_001005242.3(PKP2):c.791C>T (p.Ala264Val)

gnomAD frequency: 0.01013  dbSNP: rs62001016

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000038226	SCV000051592	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038226	SCV000061894	benign	not specified	2012-01-24	criteria provided, single submitter	clinical testing	Classified as benign based on high population frequency (MAF>0.01 and # of minor alleles >30)
GeneDx	RCV000038226	SCV000171011	benign	not specified	2014-03-22	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.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000203108	SCV000257988	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2015-04-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082900	SCV000288610	benign	Arrhythmogenic right ventricular dysplasia 9	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001082900	SCV000378467	likely benign	Arrhythmogenic right ventricular dysplasia 9	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769392	SCV000900784	benign	Cardiomyopathy	2016-08-02	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769392	SCV000911142	benign	Cardiomyopathy	2018-03-13	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000845482	SCV000987578	benign	not provided		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001082900	SCV004562059	benign	Arrhythmogenic right ventricular dysplasia 9	2023-10-14	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000203108	SCV004846485	benign	Arrhythmogenic right ventricular cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000845482	SCV005216620	likely benign	not provided		criteria provided, single submitter	not provided