ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1587C>T (p.Ala529=) (rs149358702)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000154687 SCV000602621 benign not specified 2017-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620080 SCV000737024 likely benign Cardiovascular phenotype 2017-04-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154687 SCV000230229 benign not specified 2015-03-20 criteria provided, single submitter clinical testing
GeneDx RCV000154687 SCV000235742 benign not specified 2014-08-28 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 RCV000472475 SCV000561208 benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2017-12-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154687 SCV000204365 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ala529Ala in Exon 04 of BAG3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and has been identified in 0.3% (13/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs149358702).

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