ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) (rs397516915)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208168 SCV000263866 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2015-04-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770234 SCV000901665 likely pathogenic Cardiomyopathy 2015-09-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000208168 SCV000061655 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2008-03-01 no assertion criteria provided clinical testing

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