ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1029C>A (p.Arg343=) (rs117972572)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433101 SCV000521614 likely benign not specified 2017-10-27 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 RCV000462999 SCV000561201 likely benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2017-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619892 SCV000735925 likely benign Cardiovascular phenotype 2017-07-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)

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