ClinVar Miner

Submissions for variant NM_000817.3(GAD1):c.1184+17G>A

gnomAD frequency: 0.00033  dbSNP: rs180969459
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
Baylor Genetics RCV001836987 SCV001521629 uncertain significance Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 2020-09-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001836987 SCV002348004 benign Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 2023-11-18 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.