ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.695A>T (p.His232Leu) (rs746241240)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218411 SCV000271522 uncertain significance not specified 2015-10-26 criteria provided, single submitter clinical testing The p.His232Leu variant in BAG3 has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.His232Leu var iant is uncertain.

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