ClinVar Miner

Variants in gene BUB1B

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Minimum submission review status: Collection method:
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Gene type:

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 affects not provided total
70 23 1245 689 65 9 38 2051

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Inborn genetic diseases 2 0 997 504 1 0 0 1504
Mosaic variegated aneuploidy syndrome 1 67 12 461 293 25 0 0 847
not provided 4 5 38 33 51 0 0 127
not specified 0 0 7 3 12 0 19 35
Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Colorectal cancer 0 4 28 2 0 0 0 34
Premature chromatid separation trait 1 1 2 1 12 9 1 26
Colorectal cancer 0 0 1 2 11 0 0 14
BUB1B-related disorder 0 0 2 7 0 0 0 9
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 8 8
Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Carcinoma of colon 0 0 7 0 0 0 0 7
Mosaic variegated aneuploidy syndrome 0 1 5 0 0 0 0 6
Ovarian cancer 0 1 0 0 3 0 0 4
Gastric cancer 0 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 0 2 2
See cases 0 0 2 0 0 0 0 2
Uterine carcinosarcoma 0 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 0 1 1
Carcinoma of colon 1 0 0 0 0 0 0 1
Cerebral palsy 0 0 1 0 0 0 0 1
Cervical cancer 0 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 0 1 1
Sarcoma 0 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Ambry Genetics 2 0 997 504 1 0 0 1504
Labcorp Genetics (formerly Invitae), Labcorp 55 6 452 297 23 0 0 833
GeneDx 1 2 22 11 47 0 0 83
Fulgent Genetics, Fulgent Genetics 0 4 33 2 0 0 0 39
Breakthrough Genomics, Breakthrough Genomics 0 0 2 5 28 0 0 35
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 4 19 0 0 0 0 25
ITMI 0 0 0 0 0 0 19 19
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 18 18
PreventionGenetics, part of Exact Sciences 0 0 2 7 8 0 0 17
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 12 0 0 14
CeGaT Center for Human Genetics Tuebingen 0 0 0 12 1 0 0 13
Molecular Pathology, Peter Maccallum Cancer Centre 0 0 13 0 0 0 0 13
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 4 5 0 0 10
OMIM 10 0 0 0 0 9 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 6 2 0 0 0 10
Baylor Genetics 0 1 6 0 0 0 0 7
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 7 0 0 0 0 7
Dasa 1 0 1 1 3 0 0 6
Mendelics 0 0 0 2 3 0 0 5
Revvity Omics, Revvity 2 1 2 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 4 0 0 4
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 1 0 0 3 0 0 4
Genetic Services Laboratory, University of Chicago 1 0 1 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 0 3
3billion 1 1 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 1 0 1 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 0 1 0 0 0 0 1
Research Institute, National Center for Child Health and Development 0 0 0 0 0 0 1 1

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