ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) (rs80325569)

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Total submissions: 16
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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 RCV000029679 SCV000051532 benign Arrhythmogenic right ventricular cardiomyopathy 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038019 SCV000061685 benign not specified 2012-02-07 criteria provided, single submitter clinical testing
GeneDx RCV000038019 SCV000168261 benign not specified 2014-03-27 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.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000029679 SCV000257964 likely benign Arrhythmogenic right ventricular cardiomyopathy 2015-02-05 criteria provided, single submitter clinical testing
Invitae RCV000224281 SCV000261787 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224281 SCV000280910 benign not provided 2016-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000245074 SCV000318380 benign Cardiovascular phenotype 2015-10-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Illumina Clinical Services Laboratory,Illumina RCV000343225 SCV000464962 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405945 SCV000464963 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280065 SCV000464964 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029679 SCV000464965 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000224281 SCV000698425 benign not provided 2016-11-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769224 SCV000900600 likely benign Cardiomyopathy 2015-11-04 criteria provided, single submitter clinical testing
Color RCV000769224 SCV000903648 benign Cardiomyopathy 2018-03-19 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000224281 SCV000987346 likely benign not provided criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029679 SCV000052331 benign Arrhythmogenic right ventricular cardiomyopathy 2014-06-12 no assertion criteria provided clinical testing

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