Submissions for variant NM_001005242.3(PKP2):c.1171-11T>C

gnomAD frequency: 0.00239  dbSNP: rs183414126

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038153	SCV000061819	likely benign	not specified	2015-06-19	criteria provided, single submitter	clinical testing	c.1171-11T>C in intron 4 of PKP2: This variant is not expected to have clinical significance because it has been identified in 0.4% (67/16410) of South Asian ch romosomes and 0.3% (229/65858) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs183414126).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000608573	SCV000743457	benign	Arrhythmogenic right ventricular dysplasia 9	2017-05-30	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000608573	SCV000744704	benign	Arrhythmogenic right ventricular dysplasia 9	2015-09-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776073	SCV000910779	likely benign	Cardiomyopathy	2018-03-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000608573	SCV001266835	likely benign	Arrhythmogenic right ventricular dysplasia 9	2018-01-13	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000608573	SCV001477603	benign	Arrhythmogenic right ventricular dysplasia 9	2020-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001682732	SCV001898256	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Invitae	RCV000608573	SCV002373196	benign	Arrhythmogenic right ventricular dysplasia 9	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002326741	SCV002630918	benign	Cardiovascular phenotype	2014-12-08	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	RCV001682732	SCV004010148	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	PKP2: BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000608573	SCV000733164	likely benign	Arrhythmogenic right ventricular dysplasia 9		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038153	SCV001919612	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038153	SCV001954435	benign	not specified		no assertion criteria provided	clinical testing