ClinVar Miner

Submissions for variant NM_004572.3(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 RCV000845482 SCV000288610 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000203108 SCV000378467 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
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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