ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1786G>A (p.Val596Ile) (rs727503130)

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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 RCV000150928 SCV000198572 uncertain significance not specified 2015-04-08 criteria provided, single submitter clinical testing The p.Val596Ile variant in LDB3 has been identified by our laboratory in 1 Hispa nic infant with CHD and coarctation of the aorta. It has also been identified in 3/66734 European chromosomes by the Exome Aggregation Consortium (ExAC, http:// exac.broadinstitute.org). Computational prediction tools and conservation analys is suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical signi ficance of the p.Val596Ile variant is uncertain.

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