ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.493C>T (p.Arg165Trp) (rs45610637)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154432 SCV000204100 likely benign not specified 2014-04-09 criteria provided, single submitter clinical testing Arg165Trp in exon 4 of LDB3: This variant is not expected to have clinical signi ficance due to a lack of conservation across species, including mammals. Of note , at least 7 mammals have a tryptophan (Trp) at this position. Additionally, it has been identified in 1/8592 European American chromosomes by the NHLBI Exome S equencing Project (http://evs.gs.washington.edu/EVS/) and in 1/38 Asian chromoso mes from the Coriell Cell Repository (dbSNP rs45610637).
GeneDx RCV000154432 SCV000235978 likely benign not specified 2016-03-30 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.
Ambry Genetics RCV000621354 SCV000736730 uncertain significance Cardiovascular phenotype 2016-12-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000861221 SCV001001478 benign not provided 2019-02-01 criteria provided, single submitter clinical testing

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