ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) (rs79229040)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037295 SCV000060952 likely benign not specified 2012-02-09 criteria provided, single submitter clinical testing Ile962Met in exon 15 of DSG2: This variant is not expected to have clinical sign ificance because it is not located within the splice consensus sequence and has been identified in 0.7% (24/3268) of African American chromosomes by the NHLBI E xome Sequencing Project in a broad population (http://evs.gs.washington.edu/EVS; dbSNP rs79229040). Ile962Met in exon 15 of DSG2 (rs79229040; allele frequency = 0.7%, 24/3268) **
GeneDx RCV000037295 SCV000168250 benign not specified 2013-05-29 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 RCV000231454 SCV000287238 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617277 SCV000735457 benign Cardiovascular phenotype 2016-07-21 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color Health, Inc RCV000776293 SCV000911586 benign Cardiomyopathy 2018-06-04 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000037295 SCV001433088 likely benign not specified 2020-02-20 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001530060 SCV001744620 likely benign not provided no assertion criteria provided clinical testing

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