ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.846C>T (p.Ser282=) (rs148015780)

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
Ambry Genetics RCV000718304 SCV000849166 benign History of neurodevelopmental disorder 2017-03-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000192580 SCV000340988 likely benign not specified 2016-04-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000192580 SCV000246765 likely benign not specified 2015-09-30 criteria provided, single submitter clinical testing
Invitae RCV000534059 SCV000639904 benign ATR-X syndrome 2017-12-26 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.