ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) (rs2076299)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000038050 SCV000051535 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038050 SCV000061716 benign not specified 2012-05-03 criteria provided, single submitter clinical testing Tyr1512Cys in exon 23 of DSP: This variant is not expected to have clinical sign ificance because it has been identified in 26% (983/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS/rs2076299). Tyr1512Cys in exon 23 of DSP (rs2076299; allele frequency = 26%, 983/3738) **
PreventionGenetics,PreventionGenetics RCV000038050 SCV000310361 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000247265 SCV000317450 benign Cardiovascular phenotype 2015-03-11 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
Illumina Clinical Services Laboratory,Illumina RCV000307957 SCV000465050 benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364929 SCV000465051 benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390835 SCV000465052 benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301876 SCV000465053 benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000771058 SCV000902567 benign Cardiomyopathy 2018-03-07 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845299 SCV000987335 benign not provided criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.