ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.563C>A (p.Pro188His) (rs61749701)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000678233 SCV000230252 uncertain significance not provided 2014-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719517 SCV000850385 likely benign History of neurodevelopmental disorder 2017-05-11 criteria provided, single submitter clinical testing Other strong data supporting benign classification;Other strong data
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000678233 SCV000804253 uncertain significance not provided 2015-04-03 no assertion criteria provided 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.