ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3387G>A (p.Leu1129=)

gnomAD frequency: 0.00002  dbSNP: rs3761507
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001451394 SCV001655021 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-11-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001451394 SCV001781481 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559292 SCV001781482 uncertain significance Intellectual disability-hypotonic facies syndrome, X-linked, 1 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001451394 SCV002087302 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-04-13 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.