ClinVar Miner

Variants in gene BTK

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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 likely risk allele total
261 112 188 209 71 1 789

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele total
X-linked agammaglobulinemia with growth hormone deficiency 164 41 154 188 49 0 589
X-linked agammaglobulinemia 91 38 11 5 10 0 151
not provided 40 29 21 11 30 0 129
not specified 2 2 14 9 8 0 34
Autosomal recessive agammaglobulinemia 1 17 0 1 0 0 0 18
X-linked agammaglobulinemia; X-linked agammaglobulinemia with growth hormone deficiency 3 2 4 3 0 0 12
BTK-related disorder 1 1 3 5 1 0 11
Inborn genetic diseases 0 0 3 2 0 0 5
Inherited Immunodeficiency Diseases 1 4 0 0 0 0 5
Common variable immunodeficiency 0 0 1 0 0 1 2
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Hypogammaglobulinemia, X-linked 1 0 0 0 0 0 1
Isolated congenital growth hormone deficiency 0 0 0 1 0 0 1
Malignant lymphoma, large B-cell, diffuse 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele total
Labcorp Genetics (formerly Invitae), Labcorp 163 40 145 187 43 0 578
GeneDx 24 18 9 6 26 0 83
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 19 15 5 3 0 58
OMIM 56 0 0 0 0 0 56
Illumina Laboratory Services, Illumina 0 2 9 4 8 0 21
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 17 0 1 0 0 0 18
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 15 0 17
CeGaT Center for Human Genetics Tuebingen 9 3 1 1 1 0 15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 2 4 2 3 0 13
PreventionGenetics, part of Exact Sciences 1 1 3 5 2 0 12
Mendelics 4 1 0 3 0 0 8
Clinical Genetics and Genomics, Karolinska University Hospital 7 0 0 0 0 0 7
3billion 4 2 0 1 0 0 7
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 6 0 0 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 2 2 2 0 0 0 6
Ambry Genetics 0 0 3 2 0 0 5
Eurofins Ntd Llc (ga) 0 0 2 2 1 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 3 0 0 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 1 4 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 2 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 2 0 0 0 0 5
Fulgent Genetics, Fulgent Genetics 1 0 1 2 0 0 4
Blueprint Genetics 0 3 1 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Genetic Services Laboratory, University of Chicago 0 0 1 0 2 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 1 1 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 1 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 1 0 0 0 3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 3 0 3
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 2 1 0 0 0 0 3
Revvity Omics, Revvity 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 0 0 2
Clinical Immunology, Karolinska University Hospital 1 1 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
Immunodeficiencies, Instituto Nacional de Pediatria 2 0 0 0 0 0 2
Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP)- HUVH-VHIR, Vall d'Hebron University Hospital 0 0 1 0 0 1 2
Baylor Genetics 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Routes Lab, Medical College of Wisconsin 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 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 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Wasik Lab, Fox Chase Cancer Center 1 0 0 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Institutes for Systems Genetics, West China Hospital, Sichuan University 1 0 0 0 0 0 1

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