ClinVar Miner

Submissions for variant NM_000399.5(EGR2):c.832G>A (p.Ala278Thr)

gnomAD frequency: 0.00004  dbSNP: rs565355765
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
GeneDx RCV000761723 SCV000621425 uncertain significance not provided 2021-11-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV000761723 SCV000891908 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV001040079 SCV001203634 uncertain significance Charcot-Marie-Tooth disease, type I 2021-08-24 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.