ClinVar Miner

Submissions for variant NM_139076.3(ABRAXAS1):c.1117G>A (p.Asp373Asn)

gnomAD frequency: 0.04289  dbSNP: rs13125836
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 RCV000461376 SCV000562562 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneKor MSA RCV000708633 SCV000821797 likely benign Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000461376 SCV001849605 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000708633 SCV002755410 benign Hereditary cancer-predisposing syndrome 2014-12-15 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003972800 SCV004794274 benign ABRAXAS1-related condition 2019-11-06 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.