ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.25A>G (p.Met9Val) (rs137965903)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000154683 SCV000602619 benign not specified 2016-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620469 SCV000736532 benign Cardiovascular phenotype 2016-01-21 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
GeneDx RCV000154683 SCV000167162 benign not specified 2014-04-25 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.
Invitae RCV000226527 SCV000288304 benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154683 SCV000204361 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Met9Val in exon 1 of BAG3: This variant is not expected to have clinical signifi cance because it has been identified in 0.3% (13/3734) of African American chrom osomes from a broad population by the NHLBI Exome Sequencing Project (http://evs .gs.washington.edu/EVS; dbSNP rs137965903).
PreventionGenetics RCV000154683 SCV000310054 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.