Submissions for variant NM_001005242.3(PKP2):c.2167+7C>T

gnomAD frequency: 0.06473  dbSNP: rs74072938

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038204	SCV000061872	benign	not specified	2011-06-03	criteria provided, single submitter	clinical testing	The 2299+7C>T variant in PKP2 is not expected to have clinical significance beca use it has been reported at a frequency of ~25% in a Black population and at a f requency of ~1% in a White population (dbSNP-rs74072938, Li 2010).
PreventionGenetics, part of Exact Sciences	RCV000038204	SCV000310496	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000469713	SCV000378449	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000469713	SCV000557334	benign	Arrhythmogenic right ventricular dysplasia 9	2024-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000469713	SCV000743450	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	RCV000469713	SCV000744694	benign	Arrhythmogenic right ventricular dysplasia 9	2015-09-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001711125	SCV001942917	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453314	SCV002737668	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.
Clinical Genetics, Academic Medical Center	RCV000038204	SCV001919896	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038204	SCV001954734	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV003125859	SCV003802987	benign	Cardiomyopathy	2022-09-23	no assertion criteria provided	clinical testing