ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp)

gnomAD frequency: 0.00004  dbSNP: rs782123222
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
Invitae RCV001513465 SCV001721083 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001595081 SCV001829582 likely benign not provided 2021-05-19 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25257301)
Ambry Genetics RCV002564321 SCV003718216 likely benign Inborn genetic diseases 2022-01-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001513465 SCV002087330 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-01-31 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.