ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) (rs782697291)

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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454304 SCV000537997 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research
Invitae RCV000647967 SCV000769777 benign Mental retardation, X-linked 1 2017-09-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718413 SCV000849276 benign History of neurodevelopmental disorder 2017-03-31 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

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.