ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.860-15C>T (rs727503126)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150922 SCV000198552 uncertain significance not specified 2014-01-02 criteria provided, single submitter clinical testing The 860-15C>T variant in LDB3 has not been previously reported in individuals wi th cardiomyopathy or in large population studies (European American and African American cohorts). This variant is located in the 3' splice region. Computationa l tools do not predict an impact to splicing, though this information is not pre dictive enough to rule out pathogenicity. Additional information is needed to fu lly assess the clinical significance of this variant.
GeneDx RCV000150922 SCV000529431 likely benign not specified 2017-08-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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