ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1680G>A (p.Thr560=) (rs567202599)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150522 SCV000197718 likely benign not specified 2014-04-17 criteria provided, single submitter clinical testing Thr560Thr in exon 12 of DSC2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence.
Invitae RCV000465207 SCV000561704 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000150522 SCV000729580 benign not specified 2017-05-11 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.
Ambry Genetics RCV000618172 SCV000735672 likely benign Cardiovascular phenotype 2016-07-21 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color RCV000771761 SCV000904419 benign Cardiomyopathy 2018-06-25 criteria provided, single submitter clinical testing

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