ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.663C>T (p.Thr221=)

gnomAD frequency: 0.00017  dbSNP: rs1006404746
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712267 SCV000528661 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing
Invitae RCV000939446 SCV001085290 benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2023-12-30 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.