ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1931_1932delinsAG (p.Arg644Gln)

dbSNP: rs71531463
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000518493 SCV005087812 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 35% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 33. Only high quality variants are reported.
Labcorp Genetics (formerly Invitae), Labcorp RCV000549738 SCV000652247 benign Neonatal-onset encephalopathy with rigidity and seizures 2026-02-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000518493 SCV000612490 benign not specified 2025-06-09 criteria provided, single submitter clinical testing The frequency of this variant in the general population (http://gnomad.broadinstitute.org) is higher than would generally be expected for pathogenic variants in this gene.

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.