ClinVar Miner

Variants studied for Bruton-type agammaglobulinemia

Included ClinVar conditions (3):
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
90 38 16 8 10 155

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BTK 89 37 15 7 10 151
SH3KBP1 1 0 0 1 0 2
BCLAF3, SH3KBP1 0 0 1 0 0 1
BTK, TIMM8A 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 53 0 0 0 0 53
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 19 1 0 0 35
Illumina Laboratory Services, Illumina 0 2 7 4 8 21
Mendelics 4 1 0 2 0 7
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 6 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 1 0 1 3 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 0 0 0 5
3billion 2 2 0 1 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 2 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 2 0 0 0 5
Genome-Nilou Lab 0 0 0 0 4 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 1 0 0 3
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 2 1 0 0 0 3
Centogene AG - the Rare Disease Company 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 2
Suma Genomics 2 0 0 0 0 2
Immunodeficiencies, Instituto Nacional de Pediatria 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
Routes Lab, Medical College of Wisconsin 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 1
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 0 1 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 1

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