ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.451T>C (p.Cys151Arg) (rs2234962)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757027 SCV000885057 benign not provided 2017-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000243456 SCV000317455 benign Cardiovascular phenotype 2015-06-19 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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000037893 SCV000051515 benign not specified 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037893 SCV000112806 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000037893 SCV000167154 benign not specified 2014-01-08 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 RCV000369042 SCV000360562 benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276835 SCV000360563 benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037893 SCV000061555 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Cys151Arg in Exon 02 of BAG3: This variant is not expected to have clinical si gnificance because it has been identified in 20.5% (1437/7016) of European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs2234962).
PreventionGenetics RCV000037893 SCV000310056 benign not specified criteria provided, single submitter clinical testing

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