ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.27-6C>G (rs267608411)

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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000170187 SCV000249566 pathogenic Rett syndrome 2015-09-11 criteria provided, single submitter research
RettBASE RCV000144095 SCV000189171 not provided not provided no assertion provided not provided
RettBASE RCV000170187 SCV000222516 pathogenic Rett syndrome 2002-09-05 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.