ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.566G>T (p.Gly189Val)

dbSNP: rs531827528
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526297 SCV000652268 benign Neonatal-onset encephalopathy with rigidity and seizures 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001547795 SCV001767585 likely benign not provided 2020-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001547795 SCV005228342 likely benign not provided criteria provided, single submitter not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001547795 SCV005876073 likely benign not provided 2024-11-22 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.