ClinVar Miner

Variants in gene BCOR

See also:
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 other not provided total
55 24 206 141 102 1 15 464

Condition and significance breakdown #

Total conditions: 17
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Oculofaciocardiodental syndrome 44 9 100 64 79 0 1 295
not provided 14 6 75 35 29 0 1 157
Inborn genetic diseases 2 0 30 13 3 0 0 48
BCOR-related condition 0 2 7 31 1 0 0 41
not specified 0 0 10 12 9 0 13 37
Intellectual disability 0 0 1 3 0 0 0 4
Microphthalmia, syndromic 1; Oculofaciocardiodental syndrome 0 0 1 3 0 0 0 4
Adenoid cystic carcinoma 0 3 0 0 0 0 0 3
Developmental cataract 1 1 1 0 0 0 0 3
History of neurodevelopmental disorder 0 0 0 1 2 0 0 3
BCOR-related disorders 1 1 0 0 0 0 0 2
Abnormal brain morphology 0 1 0 0 0 0 0 1
Acute myeloid leukemia 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
Microphthalmia, syndromic 1 0 1 0 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: 61
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 21 1 85 70 85 0 0 262
GeneDx 7 1 42 10 23 0 0 83
Ambry Genetics 2 0 30 14 5 0 0 51
PreventionGenetics, part of Exact Sciences 0 2 7 31 4 0 0 44
Eurofins Ntd Llc (ga) 4 0 17 2 4 0 0 27
CeGaT Center for Human Genetics Tuebingen 1 1 10 15 0 0 0 27
Genetic Services Laboratory, University of Chicago 0 0 7 9 3 0 0 19
ITMI 0 0 0 0 0 0 13 13
OMIM 10 0 0 0 0 0 0 10
Revvity Omics, Revvity 3 0 5 0 0 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 3 3 0 0 0 6
Baylor Genetics 0 2 2 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 1 3 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 2 0 0 4
Clinical Genetics, Academic Medical Center 0 0 1 0 2 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
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 0 2
Eye Genetics Research Group, Children's Medical Research Institute 1 0 1 0 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 0 2
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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 0 0 0 0 2
Molecular Medicine, University of Pavia 2 0 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 2
3billion 0 2 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 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
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 0 1
Mendelics 0 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Illumina Laboratory Services, 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
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 1 1
Neurosurgery, Yale University School of Medicine 0 0 1 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 0 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, University of Rochester Medical Center 1 0 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 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.