ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2357+13_2357+14insC

gnomAD frequency: 0.19813  dbSNP: rs149968852
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038211 SCV000061879 benign not specified 2012-03-14 criteria provided, single submitter clinical testing Benign based on high proband frequency (>10%)
GeneDx RCV001719750 SCV000236172 benign not provided 2018-06-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000038211 SCV000310497 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327700 SCV000378446 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000624994 SCV000743442 benign Arrhythmogenic right ventricular dysplasia 9 2014-10-09 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000624994 SCV000744690 benign Arrhythmogenic right ventricular dysplasia 9 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000624994 SCV002369242 benign Arrhythmogenic right ventricular dysplasia 9 2024-02-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000038211 SCV001742995 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000038211 SCV001920483 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000038211 SCV001953437 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV003125860 SCV003802988 benign Cardiomyopathy 2022-09-23 no assertion criteria provided clinical testing

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