ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) (rs2230235)

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Total submissions: 11
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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 RCV000037267 SCV000051530 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037267 SCV000060924 benign not specified 2009-02-22 criteria provided, single submitter clinical testing
GeneDx RCV000037267 SCV000168239 benign not specified 2014-03-22 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.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000202993 SCV000257907 likely benign Arrhythmogenic right ventricular cardiomyopathy 2015-02-19 criteria provided, single submitter clinical testing
Invitae RCV000227325 SCV000287228 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-12-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000227325 SCV000408230 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Color Health, Inc RCV000029668 SCV000911306 benign Cardiomyopathy 2018-10-03 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852741 SCV000995458 benign Cardiomyopathy; Systolic heart failure 2019-01-24 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000029668 SCV001334035 benign Cardiomyopathy 2018-03-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287554 SCV001474254 benign none provided 2020-08-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029668 SCV000052320 benign Cardiomyopathy 2013-02-11 no assertion criteria provided clinical testing

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