ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.7728T>C (p.Asn2576=) (rs1801188)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755509 SCV000603334 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252250 SCV000317955 benign Cardiovascular phenotype 2015-06-29 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
Athena Diagnostics Inc RCV000576429 SCV000677278 benign Becker muscular dystrophy; Duchenne muscular dystrophy 2017-04-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080769 SCV000112671 benign not specified 2016-08-03 criteria provided, single submitter clinical testing
GeneDx RCV000080769 SCV000168142 benign not specified 2013-11-14 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.
Illumina Clinical Services Laboratory,Illumina RCV000382472 SCV000482229 likely benign Dilated cardiomyopathy 3B 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000080769 SCV000268970 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.Asn2576Asn in exon 53 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 20% (1364/6728) of European America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS/; dbSNP rs1801188).
Phosphorus, Inc. RCV000578071 SCV000679894 benign Duchenne muscular dystrophy 2017-08-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000080769 SCV000309943 benign not specified 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.