ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg)

gnomAD frequency: 0.00001  dbSNP: rs587778086
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
Invitae RCV000862816 SCV001003370 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001668270 SCV001890494 benign not provided 2020-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426666 SCV002743409 benign Inborn genetic diseases 2017-06-16 criteria provided, single submitter clinical testing This alteration is classified as 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.
ITMI RCV000120177 SCV000084320 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV000862816 SCV002087332 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-01-24 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.