ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu) (rs143413607)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000148469 SCV000297176 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2015-11-30 criteria provided, single submitter clinical testing
Invitae RCV000456802 SCV000551494 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2019-06-28 criteria provided, single submitter clinical testing
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000456802 SCV000891612 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-12-30 criteria provided, single submitter curation
Color RCV001180330 SCV001345234 uncertain significance Cardiomyopathy 2020-02-11 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148469 SCV000190169 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2014-06-01 no assertion criteria provided research

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