ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser)

gnomAD frequency: 0.00078  dbSNP: rs147745609
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082421 SCV000652232 likely benign Neonatal-onset encephalopathy with rigidity and seizures 2024-01-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710742 SCV000841040 uncertain significance not provided 2017-11-28 criteria provided, single submitter clinical testing
GeneDx RCV000710742 SCV001805412 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710742 SCV002545488 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing BRAT1: BP4
Revvity Omics, Revvity RCV000710742 SCV003828543 uncertain significance not provided 2022-03-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935499 SCV004749778 likely benign BRAT1-related condition 2021-02-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251685 SCV001427425 likely benign Intellectual disability 2019-01-01 no assertion criteria provided 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.