ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) (rs62001016)

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Total submissions: 9
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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, Partners HealthCare 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.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203108 SCV000257988 likely benign Arrhythmogenic right ventricular cardiomyopathy 2015-04-14 criteria provided, single submitter clinical testing
Invitae RCV001082900 SCV000288610 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001082900 SCV000378467 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 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 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

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