ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.273A>G (p.Gly91=) (rs376944801)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245486 SCV000319044 likely benign Cardiovascular phenotype 2016-06-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770543 SCV000901990 likely benign Cardiomyopathy 2015-10-14 criteria provided, single submitter clinical testing
GeneDx RCV000421353 SCV000535058 likely benign not specified 2018-01-15 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 RCV000459609 SCV000561378 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2017-12-29 criteria provided, single submitter clinical testing

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