ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) (rs397517408)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039448 SCV000063132 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2017-05-18 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769504 SCV000900899 likely pathogenic Cardiomyopathy 2017-01-30 criteria provided, single submitter clinical testing

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