ClinVar Miner

Variants studied for Rigidity and multifocal seizure syndrome, lethal neonatal

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
15 0 102 36 29 182

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic uncertain significance likely benign benign total
BRAT1 15 102 36 29 182

Submitter and significance breakdown #

Total submitters: 7
Download table as spreadsheet
Submitter pathogenic uncertain significance likely benign benign total
Invitae 6 100 36 29 171
OMIM 7 0 0 0 7
Genetic Services Laboratory, University of Chicago 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 0 0 0 2
Mendelics 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 1

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.