ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile) (rs34065672)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000037293 SCV000051378 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037293 SCV000060950 benign not specified 2012-03-19 criteria provided, single submitter clinical testing Thr903Ile in exon 15 of DSG2: This variant is not expected to have clinical sign ificance because it has been identified in 1.9% (60/3068) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http://; dbSNP rs34065672)
GeneDx RCV000037293 SCV000168249 benign not specified 2013-10-10 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 RCV001084604 SCV000561402 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-11-26 criteria provided, single submitter clinical testing
Color Health, Inc RCV000029670 SCV000911060 benign Cardiomyopathy 2018-06-04 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845406 SCV000987471 benign not provided criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852744 SCV000995461 benign Restrictive cardiomyopathy; Cardiomyopathy 2018-08-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029670 SCV000052322 benign Cardiomyopathy 2014-05-13 no assertion criteria provided clinical testing

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