ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1659C>T (p.Leu553=)

gnomAD frequency: 0.00205  dbSNP: rs61746940
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
Invitae RCV001082747 SCV000652236 benign Neonatal-onset encephalopathy with rigidity and seizures 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000556345 SCV001143167 benign not provided 2019-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000556345 SCV001825529 likely benign not provided 2020-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000556345 SCV001962024 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing BRAT1: BP4, BP7

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.