ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1689-13dup (rs200009796)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038179 SCV000061846 benign not specified 2015-09-29 criteria provided, single submitter clinical testing c.1689-8dupT in intron 7 of PKP2: This variant is not expected to have clinical significance because it has been identified in 1% (74/6604) of Finnish chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org/; d bSNP rs200009796).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038179 SCV000232664 benign not specified 2014-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000038179 SCV000236186 benign not specified 2015-07-09 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 RCV000232257 SCV000288598 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-01-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038179 SCV000310492 likely benign not specified criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000232257 SCV000743453 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000232257 SCV000744698 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2015-09-21 criteria provided, single submitter clinical testing
Color RCV000776088 SCV000910856 benign Cardiomyopathy 2018-04-08 criteria provided, single submitter clinical testing

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