ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2328C>G (p.Ile776Met) (rs1789054)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618344 SCV000736920 uncertain significance Cardiovascular phenotype 2017-09-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000604239 SCV000744756 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-10-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000604239 SCV000733773 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 no assertion criteria provided clinical testing

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