ClinVar Miner

Variants in gene BRAT1

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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 not provided total
36 13 329 142 38 1 534

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rigidity and multifocal seizure syndrome, lethal neonatal 30 5 318 111 32 0 495
not provided 5 9 27 36 17 0 87
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 6 1 2 0 0 1 8
Inborn genetic diseases 2 1 3 0 0 0 6
Intellectual disability 0 0 1 5 0 0 6
not specified 0 0 0 0 6 0 6
Rigidity and multifocal seizure syndrome, lethal neonatal; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 0 4 0 0 0 4
BRAT1-associated neurodegenerative disorder 1 0 0 0 0 0 1
Breast-ovarian cancer, familial 1 0 0 1 0 0 0 1
Seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 20 5 316 133 33 0 507
Athena Diagnostics Inc 0 0 15 4 20 0 39
GeneDx 4 7 3 0 0 0 14
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 9 3 0 0 14
OMIM 11 0 0 0 0 0 11
Baylor Genetics 0 0 10 0 0 0 10
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 3 4 0 0 8
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 1 5 0 0 7
Ambry Genetics 2 1 3 0 0 0 6
Genetic Services Laboratory, University of Chicago 2 0 0 0 2 0 4
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 0 0 0 0 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 2 0 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
Mendelics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Dr Sami Ulus Medical Genetics Department,Dr Sami Ulus Training and Research Hospital for Maternity and Children's Health and Diseases 1 0 0 0 0 0 1

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