ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.859+3G>A (rs376313045)

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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 RCV000156258 SCV000205974 uncertain significance not specified 2013-12-05 criteria provided, single submitter clinical testing The 859+3G>A variant in LDB3 has not been previously reported in individuals wit h cardiomyopathy and was absent from large population studies. This variant is l ocated in the 5' splice region. Computational tools do not suggest a negative im pact to splicing, though this information is not predictive enough to rule out p athogenicity. Additional information is needed to fully assess the clinical sign ificance of this variant.

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