ClinVar Miner

Variants in gene BRD4

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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 total
15 14 349 368 87 805

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 7 3 289 351 86 719
Inborn genetic diseases 1 0 50 1 0 52
BRD4-related disorder 0 0 8 23 10 41
Cornelia de Lange syndrome 6 4 6 3 0 0 11
not specified 1 0 3 4 1 9
De Lange syndrome 1 0 6 0 0 7
Cornelia de Lange-like syndrome 0 1 1 0 0 2
Mental disorder 0 1 1 0 0 2
Short stature 0 2 0 0 0 2
Cornelia de Lange syndrome 1 0 0 1 0 0 1
Developmental disorder 0 0 0 1 0 1
Intellectual disability 1 0 0 0 0 1
Learning Disabilities, Adolescent 0 0 1 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 1
See cases 0 1 0 0 0 1
Syndromic intellectual disability 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 5 1 247 289 56 598
CeGaT Center for Human Genetics Tuebingen 0 1 8 83 22 114
Ambry Genetics 1 0 50 1 0 52
GeneDx 2 0 35 1 11 49
PreventionGenetics, part of Exact Sciences 0 0 8 23 10 41
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 17 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 4 0 7
OMIM 4 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 2 2 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 1 0 3
New York Genome Center 0 1 2 0 0 3
Mendelics 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 2
3billion 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 1

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