ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.870C>G (p.Pro290=) (rs140737221)

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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 RCV000037901 SCV000061563 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Pro290Pro in exon 03 of BAG3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, and is not located wit hin the splice consensus sequence. It has been identified in 0.2% (6/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs140737221). Pro290Pro in ex on 03 of BAG3 (rs140737221; allele frequency = 0.2%, 6/3738) **
GeneDx RCV000037901 SCV000512229 benign not specified 2015-04-07 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 RCV000538221 SCV000650674 benign not provided 2019-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619465 SCV000736497 likely benign Cardiovascular phenotype 2015-11-20 criteria provided, single submitter clinical testing

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