ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.239T>G (p.Met80Arg)

dbSNP: rs1064794797
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001308777 SCV001498247 uncertain significance Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2021-09-02 criteria provided, single submitter clinical testing
GeneDx RCV004721543 SCV005327947 pathogenic not provided 2023-06-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35599849)
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000677391 SCV000803685 likely pathogenic Developmental and epileptic encephalopathy, 43 2017-08-31 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.