ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.*13G>T (rs397517207)

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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 RCV000038713 SCV000062391 uncertain significance not specified 2012-07-30 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The *13G>T variant in LDB3 has not been reported in the literature nor previously identified by our laboratory. This variant occurs in the 3' untranslated region (3' UTR) and does not affect the coding sequence of the gene. Although this region can contain el ements that regulate mRNA, there is no obvious predicted effect of this variant and no other pathogenic variants have been reported in the 3' UTR region of the LDB3 gene. Although this data supports that the *13G>T variant may be benign, ad ditional studies are needed to fully assess its clinical significance.

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