ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1520+8C>G (rs372979057)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770538 SCV000901985 likely benign Cardiomyopathy 2017-10-24 criteria provided, single submitter clinical testing
GeneDx RCV000608328 SCV000723377 likely benign not specified 2017-10-04 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 RCV000473886 SCV000561708 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2016-10-12 criteria provided, single submitter clinical testing

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