ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1521-7C>T (rs374810953)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776296 SCV000911590 likely benign Cardiomyopathy 2018-08-27 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000547339 SCV000744760 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000217764 SCV000512859 likely benign not specified 2016-02-09 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.
Invitae RCV000547339 SCV000644990 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-07-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217764 SCV000270161 likely benign not specified 2015-11-23 criteria provided, single submitter clinical testing c.1521-7C>T in intron 10 of DSC2: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the spl ice consensus sequence and is therefore unlikely to impact splicing. It has been identified in 14/66584 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs374810953).
Phosphorus, Inc. RCV000547339 SCV000679936 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-08-01 criteria provided, single submitter clinical testing

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