ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.627A>G (p.Ala209=)

gnomAD frequency: 0.00002  dbSNP: rs564306903
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
Genetic Services Laboratory, University of Chicago RCV000146251 SCV000193498 uncertain significance L-2-hydroxyglutaric aciduria 2014-04-10 criteria provided, single submitter clinical testing
Invitae RCV000146251 SCV001690072 likely benign L-2-hydroxyglutaric aciduria 2023-10-13 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.