ClinVar Miner

Submissions for variant NM_003573.2(LTBP4):c.1390T>A (p.Ser464Thr) (rs34545902)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155548 SCV000205249 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ser501Thr in exon 11 of LTBP4: This variant is not expected to have clinical sig nificance because it has been identified in 12.7% (509/4004) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs34545902).
Illumina Clinical Services Laboratory,Illumina RCV000358918 SCV000413275 likely benign Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000155548 SCV000529356 benign not specified 2016-10-20 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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