ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.777C>T (p.Ala259=) (rs1042870)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081210 SCV000113118 benign not specified 2013-12-20 criteria provided, single submitter clinical testing
GeneDx RCV000081210 SCV000170223 benign not specified 2014-05-21 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 RCV000081210 SCV000193641 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000225594 SCV000282497 benign Rett syndrome 2015-08-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712285 SCV000842736 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Invitae RCV000712285 SCV001002407 benign not provided 2019-02-19 criteria provided, single submitter clinical testing
RettBASE RCV000081210 SCV000188238 benign not specified 2010-12-03 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.