ClinVar Miner

Variants in gene BCORL1

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
7 4 296 72 16 382

Condition and significance breakdown #

Total conditions: 11
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 0 169 56 15 236
not specified 0 0 82 4 0 86
Shukla-Vernon syndrome 4 2 49 2 0 56
BCORL1-related disorder 0 0 15 18 5 38
See cases 0 0 1 1 1 3
Oligoasthenoteratozoospermia 2 0 0 0 0 2
Global developmental delay 0 0 1 0 0 1
Intellectual disability 0 1 0 0 0 1
Multiple myeloma 0 1 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 47
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 0 0 130 3 3 136
Ambry Genetics 0 0 70 2 0 72
CeGaT Center for Human Genetics Tuebingen 0 0 18 46 0 64
PreventionGenetics, part of Exact Sciences 0 0 15 18 5 38
Labcorp Genetics (formerly Invitae), Labcorp 0 0 11 10 12 33
Breakthrough Genomics, Breakthrough Genomics 0 0 1 2 10 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 11 1 0 12
Revvity Omics, Revvity 0 0 11 0 0 11
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 8 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 6 0 0 6
Baylor Genetics 0 0 5 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 3 2 0 5
OMIM 4 0 0 0 0 4
Mendelics 0 0 3 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 3 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 1 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 1 1 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 2 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 2
New York Genome Center 0 0 2 0 0 2
Fuxi Zhu Research Group, Second Affiliated Hospital of Anhui Medical University 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 1
Institute of Bioinformatics 0 1 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 1
3billion 0 0 1 0 0 1
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 0 0 1 0 0 1
Genetics Department, Catlab 0 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.