ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1674G>A (p.Ala558=) (rs142981190)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150188 SCV000197109 likely benign not specified 2017-05-31 criteria provided, single submitter clinical testing p.Ala558Ala in exon 4 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. This variant has been identified in 14/24026 African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.br oadinstitute.org/; dbSNP rs142981190).
Illumina Clinical Services Laboratory,Illumina RCV000317793 SCV000360613 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374763 SCV000360614 likely benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000150188 SCV000720924 likely benign not specified 2017-07-11 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 RCV000872394 SCV001014196 likely benign not provided 2018-10-11 criteria provided, single submitter clinical testing

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