ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.5557C>T (p.His1853Tyr)

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
CeGaT Center for Human Genetics Tuebingen RCV003439686 SCV004165883 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing ATRX: PP2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV003512226 SCV004353867 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2022-11-30 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.