ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.99G>T (p.Arg33Ser)

gnomAD frequency: 0.00965  dbSNP: rs35710558
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146254 SCV000193501 likely benign not specified 2013-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081499 SCV000763900 benign L-2-hydroxyglutaric aciduria 2025-01-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712166 SCV000842595 benign not provided 2017-09-25 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001081499 SCV001984575 benign L-2-hydroxyglutaric aciduria 2020-01-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000712166 SCV005212020 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003905267 SCV004724203 benign L2HGDH-related disorder 2019-11-06 no assertion criteria provided 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.