ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.181-15C>T (rs397516882)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000280632 SCV000360552 likely benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337982 SCV000360553 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037888 SCV000061550 uncertain significance not specified 2012-12-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 181-15C>T varia nt in BAG3 has not been reported in the literature nor previously identified by our laboratory. This variant has not been identified in large and broad European American and African American populations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/), though it remains possible that this varia nt is common in other populations. This variant is located in the 3' splice regi on. Computational tools do not suggest an impact to splicing, though this inform ation is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of this variant.

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