ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) (rs145475623)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715779 SCV000846610 likely benign History of neurodevelopmental disorder 2017-11-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Does not segregate with disease in family study (genes with incomplete penetrance)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725184 SCV000334727 uncertain significance not provided 2017-04-11 criteria provided, single submitter clinical testing
Elsea Laboratory,Baylor College of Medicine RCV000456009 SCV000264476 likely pathogenic MBD5 associated neurodevelopmental disorder 2012-10-01 criteria provided, single submitter research
GeneDx RCV000188109 SCV000241716 likely benign not specified 2017-05-17 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.
Genetic Services Laboratory, University of Chicago RCV000188109 SCV000595712 likely benign not specified 2016-02-25 criteria provided, single submitter clinical testing
Invitae RCV000645287 SCV000767029 benign Mental retardation, autosomal dominant 1 2018-01-04 criteria provided, single submitter clinical testing

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.