ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1097T>C (p.Leu366Pro) (rs1046116)

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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 RCV000172774 SCV000051590 benign Arrhythmogenic right ventricular cardiomyopathy 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038145 SCV000061811 benign not specified 2008-01-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038145 SCV000310490 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000246631 SCV000317536 benign Cardiovascular phenotype 2014-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000172774 SCV000378463 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000615556 SCV000743458 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000615556 SCV000744706 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2015-09-21 criteria provided, single submitter clinical testing
Color RCV000775996 SCV000910526 benign Cardiomyopathy 2018-03-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000615556 SCV000733165 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 no assertion criteria provided clinical testing

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