ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del)

dbSNP: rs782630348
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000640825 SCV000762426 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-12-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000659167 SCV000780983 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000640825 SCV001440407 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000659167 SCV001863748 benign not provided 2020-12-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32156473)
Athena Diagnostics RCV005000431 SCV005622429 likely benign not specified 2024-06-24 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.