ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2299+7C>T (rs74072938)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038204 SCV000061872 benign not specified 2011-06-03 criteria provided, single submitter clinical testing The 2299+7C>T variant in PKP2 is not expected to have clinical significance beca use it has been reported at a frequency of ~25% in a Black population and at a f requency of ~1% in a White population (dbSNP-rs74072938, Li 2010).
PreventionGenetics,PreventionGenetics RCV000038204 SCV000310496 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323179 SCV000378449 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469713 SCV000557334 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-08-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000469713 SCV000743450 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000469713 SCV000744694 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2015-09-21 criteria provided, single submitter clinical testing

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