ClinVar Miner

Variants in gene BCOR

Minimum submission review status: Collection method:
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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 other not provided total
50 15 105 62 76 1 20 287

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Oculofaciocardiodental syndrome 32 4 44 23 40 0 0 143
not provided 16 5 43 24 37 0 0 121
not specified 0 0 13 13 8 0 20 48
History of neurodevelopmental disorder 0 0 0 3 4 0 0 7
Inborn genetic diseases 1 0 4 0 0 0 0 5
Congenital cataract 2 1 1 0 0 0 0 4
Intellectual disability 0 0 1 3 0 0 0 4
Adenoid cystic carcinoma 0 3 0 0 0 0 0 3
Abnormality of brain morphology 0 1 0 0 0 0 0 1
BCOR-related disorders 1 0 0 0 0 0 0 1
Congenital cerebellar hypoplasia; Corpus callosum, agenesis of; Brachycephaly; Microcephaly; Mild fetal ventriculomegaly 0 0 1 0 0 0 0 1
Glioblastoma 0 0 0 0 0 1 0 1
Lenz microphthalmia syndrome 0 1 0 0 0 0 0 1
Lenz microphthalmia syndrome; Oculofaciocardiodental syndrome 0 0 1 0 0 0 0 1
sellar metastasis from primary bronchial carcinoid tumor 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 18 0 37 42 67 0 0 164
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 5 0 23 2 5 0 0 35
GeneDx 7 1 12 1 8 0 0 29
Genetic Services Laboratory, University of Chicago 0 0 11 8 3 0 0 22
ITMI 0 0 0 0 0 0 20 20
OMIM 12 0 0 0 0 0 0 12
Ambry Genetics 1 0 4 3 4 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 4 1 0 0 0 7
PreventionGenetics, PreventionGenetics 0 0 0 1 4 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 0 0 0 0 5
Gharavi Laboratory,Columbia University 0 0 4 0 0 0 0 4
Eye Genetics Research Group,Children's Medical Research Institute 2 0 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 1 0 0 0 0 3
Genome Sciences Centre,British Columbia Cancer Agency 0 3 0 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 0 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 1 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Neurosurgery,Yale University School of Medicine 0 0 1 0 0 0 0 1

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