ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.249C>A (p.His83Gln) (rs151331972)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000037891 SCV000051367 benign not specified 2013-06-24 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513197 SCV000608570 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000037891 SCV000167153 benign not specified 2014-06-03 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 RCV000463967 SCV000561198 benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2017-12-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037891 SCV000061553 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.His83Gln in Exon 02 of BAG3: This variant is not expected to have clinical sig nificance because it has been identified in 1.0% (39/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs151331972).

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