ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.888C>T (p.His296=) (rs139399890)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150181 SCV000197099 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing His296His in exon 3 of BAG3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 0.1% (9/7018) of Euro pean American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS; dbSNP rs139399890). His296His in exon 3 of BAG3 (rs139399890 ; allele frequency = 0.1%, 9/7018) **
Illumina Clinical Services Laboratory,Illumina RCV000358035 SCV000360585 likely benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265465 SCV000360586 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000150181 SCV000512230 benign not specified 2015-04-16 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 RCV000555379 SCV000650675 benign not provided 2018-12-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150181 SCV000704530 likely benign not specified 2017-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617598 SCV000735348 likely benign Cardiovascular phenotype 2016-04-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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