ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.*14G>A (rs199963992)

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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000678230 SCV000804248 uncertain significance not provided 2015-04-03 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081189 SCV000113097 likely benign not specified 2015-08-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081189 SCV000595747 uncertain significance not specified 2013-02-08 criteria provided, single submitter clinical testing
RettBASE RCV000169941 SCV000187753 uncertain significance Rett syndrome 2013-12-05 no assertion criteria provided curation

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.