ClinVar Miner

Submissions for variant NM_020686.6(ABAT):c.659G>A (p.Arg220Lys) (rs121434578)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bonnen Lab,Baylor College of Medicine RCV000017603 SCV000148966 pathogenic Gamma-aminobutyric acid transaminase deficiency 2014-01-01 criteria provided, single submitter research clinical and in vitro studies
OMIM RCV000017603 SCV000037876 pathogenic Gamma-aminobutyric acid transaminase deficiency 2010-02-01 no assertion criteria provided literature only

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.