ClinVar Miner

Submissions for variant NM_001195553.2(DCX):c.856G>T (p.Ala286Ser) (rs149495971)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195043 SCV000247174 likely benign not specified 2015-04-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000195043 SCV000333684 likely benign not specified 2015-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718961 SCV000849825 benign History of neurodevelopmental disorder 2017-06-12 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000996003 SCV001150427 uncertain significance not provided 2017-08-01 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.