ClinVar Miner

Submissions for variant NM_003573.2(LTBP4):c.2265C>T (p.Cys755=) (rs141810975)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220548 SCV000269234 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Cys792Cys in exon 17 of LTBP4: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 2.7% (112/4186) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs141810975).
Illumina Clinical Services Laboratory,Illumina RCV000278621 SCV000413288 likely benign Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000220548 SCV000532975 benign not specified 2016-11-25 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.