ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.4329G>A (p.Glu1443=)

gnomAD frequency: 0.00002  dbSNP: rs782044671
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
Invitae RCV000867739 SCV001008997 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-09-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438518 SCV004165884 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing ATRX: BP4, BP7
Natera, Inc. RCV000867739 SCV002087275 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-01-28 no assertion criteria provided 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.