Submissions for variant NM_001005242.3(PKP2):c.939C>T (p.Ser313=)

gnomAD frequency: 0.00229  dbSNP: rs61729381

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038230	SCV000061898	benign	not specified	2012-02-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000231808	SCV000288612	benign	Arrhythmogenic right ventricular dysplasia 9	2024-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001719751	SCV000514125	likely benign	not provided	2022-04-27	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000231808	SCV000744709	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	RCV000769391	SCV000900783	benign	Cardiomyopathy	2016-11-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000231808	SCV001269386	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.
Color Diagnostics, LLC DBA Color Health	RCV000769391	SCV001346134	benign	Cardiomyopathy	2018-11-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001719751	SCV004130536	benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	PKP2: BS1, BS2
Clinical Genetics, Academic Medical Center	RCV000038230	SCV001921199	benign	not specified		no assertion criteria provided	clinical testing