ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1171-11T>C (rs183414126)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038153 SCV000061819 likely benign not specified 2015-06-19 criteria provided, single submitter clinical testing c.1171-11T>C in intron 4 of PKP2: This variant is not expected to have clinical significance because it has been identified in 0.4% (67/16410) of South Asian ch romosomes and 0.3% (229/65858) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs183414126).
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000608573 SCV000743457 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-05-30 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000608573 SCV000744704 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2015-09-21 criteria provided, single submitter clinical testing
Color RCV000776073 SCV000910779 likely benign Cardiomyopathy 2018-03-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608573 SCV000733164 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 no assertion criteria provided clinical testing

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