ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.771C>T (p.Pro257=) (rs200212999)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230044 SCV000288308 likely benign Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2017-06-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150179 SCV000197093 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Pro257Pro 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 2/7020 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS). Pro257Pro in exon 3 of BAG3 (allele frequency = 2/7020) **
PreventionGenetics RCV000150179 SCV000310059 likely benign not specified criteria provided, single submitter clinical testing

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