ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2484T>C (p.Asp828=) (rs201051252)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154702 SCV000204381 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Asp828Asp in Exon 15 of DSG2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and has been identified in 0.6% (18/2984) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;).
Ambry Genetics RCV000253522 SCV000319747 benign Cardiovascular phenotype 2015-06-03 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
Invitae RCV000473272 SCV000561394 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-12-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000473272 SCV001284700 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Color Health, Inc RCV001179552 SCV001344244 benign Cardiomyopathy 2018-11-08 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528325 SCV001739882 likely benign not provided no assertion criteria provided clinical testing

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