ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.705G>A (p.Ala235=) (rs141328836)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000221746 SCV000269996 likely benign not specified 2015-05-19 criteria provided, single submitter clinical testing p.Ala235Ala in exon 3 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 4/66356 European ch romosomes, 3/8632 East Asian chromosomes, and 2/16508 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s141328836).
GeneDx RCV000221746 SCV000531588 likely benign not specified 2016-09-07 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 RCV001079518 SCV001008766 likely benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000867527 SCV001148106 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing

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