ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.269_272del (p.Leu90fs) (rs397517025)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415162 SCV000492519 likely pathogenic Ventricular tachycardia 2016-10-06 no assertion criteria provided clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038216 SCV000061884 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2009-11-05 no assertion criteria provided clinical testing

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