ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.174G>T (p.Glu58Asp) (rs146708884)

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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 RCV000038182 SCV000051587 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038182 SCV000061849 benign not specified 2015-05-01 criteria provided, single submitter clinical testing p.Glu58Asp in exon 1 of PKP2: This variant is not expected to have clinical sign ificance because it was detected in 6.3% (284/4446) Finnish chromosomes, includi ng 5 homozygotes, and 0.7% (377/51932) of European chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs146708884).
GeneDx RCV000038182 SCV000171018 benign not specified 2013-08-09 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.
Invitae RCV000226097 SCV000288599 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000250199 SCV000318696 benign Cardiovascular phenotype 2014-12-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038182 SCV000332414 benign not specified 2015-06-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391093 SCV000378476 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000771123 SCV000902860 benign Cardiomyopathy 2018-03-13 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845407 SCV000987472 benign not provided criteria provided, single submitter clinical testing

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