ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.181-9T>A (rs139232658)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000123808 SCV000703812 benign not specified 2016-12-29 criteria provided, single submitter clinical testing
GeneDx RCV000123808 SCV000167151 benign not specified 2014-03-21 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 RCV000232010 SCV000288300 benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2018-01-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000123808 SCV000710892 benign not specified 2012-03-19 criteria provided, single submitter clinical testing c.181-9T>A in Intron 01 of BAG3: This variant is not expected to have clinical s ignificance because it has been identified in 1.0% (38/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs139232658).

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