ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.465A>G (p.Ala155=) (rs775151738)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726776 SCV000702969 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000217410 SCV000714121 likely benign not specified 2017-12-04 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 RCV000375555 SCV000360568 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264661 SCV000360569 uncertain significance Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000648849 SCV000770670 likely benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2018-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217410 SCV000269995 likely benign not specified 2015-11-23 criteria provided, single submitter clinical testing p.Ala155Ala in exon 2 of BAG3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/63330 European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs775151738).

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