ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.942+13_942+15dup (rs5823783)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625299 SCV000744766 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000039446 SCV000233403 benign not specified 2018-03-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000265485 SCV000408101 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039446 SCV000063130 benign not specified 2018-07-19 criteria provided, single submitter clinical testing c.942+12_942+13insTTA in DSC2 is a RefSeq error and is the major allele at this position with an allele frequency of 99.9% in the Genome Aggregation Database (g nomAD, http://gnomad.broadinstitute.org).
PreventionGenetics RCV000039446 SCV000314304 likely benign not specified criteria provided, single submitter clinical testing

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