ClinVar Miner

Variants studied for X-linked agammaglobulinemia

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
91 39 11 5 10 152

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BTK 91 38 11 5 10 151
BTK, TIMM8A 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 52 0 0 0 0 52
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 19 1 0 0 36
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 3 0 0 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
3billion 2 2 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 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 Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 2
Clinical Immunology, Karolinska University Hospital 1 1 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
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 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
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
Department of Human Genetics, Hannover Medical School 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
Institutes for Systems Genetics, West China Hospital, Sichuan University 1 0 0 0 0 1

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