ClinVar Miner

Submissions for variant NM_020988.3(GNAO1):c.133G>C (p.Gly45Arg)

dbSNP: rs869312939
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
Ambry Genetics RCV000210693 SCV000262939 pathogenic Inborn genetic diseases criteria provided, single submitter clinical testing Overall WES conclusion for patient, including all identified alterations: POSITIVE: Relevant Alteration(s) Detected
Invitae RCV001378535 SCV001576122 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-08-27 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.