ClinVar Miner

Variants in gene ADA2

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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 not provided total
72 48 270 184 46 11 565

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Vasculitis due to ADA2 deficiency 61 22 215 172 15 7 477
Sneddon syndrome; Vasculitis due to ADA2 deficiency 12 17 91 16 0 0 136
not provided 18 10 22 18 38 4 101
Autoinflammatory syndrome 2 4 33 5 1 0 45
not specified 0 0 5 3 17 0 24
ADA2-related disorder 5 1 3 9 0 0 18
Sneddon syndrome 7 2 0 0 0 0 9
Behcet disease 4 0 0 0 0 0 4
Deficiency of ADA2 0 1 1 0 0 0 2
Deficiency of adenosine deaminase 2 0 1 1 0 0 0 2
Inherited Immunodeficiency Diseases 0 2 0 0 0 0 2
Polyarteritis nodosa 0 1 0 0 0 0 1
See cases 1 0 0 0 0 0 1
Splenomegaly 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 53 12 210 172 15 0 462
Fulgent Genetics, Fulgent Genetics 12 17 91 15 0 0 135
GeneDx 11 2 4 0 30 0 47
Genome Diagnostics Laboratory, The Hospital for Sick Children 2 4 33 5 1 0 45
CeGaT Center for Human Genetics Tuebingen 9 2 10 12 3 0 36
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 24 0 27
PreventionGenetics, part of Exact Sciences 5 1 3 9 0 0 18
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 16 0 16
OMIM 13 0 0 0 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 1 5 1 0 10
Genetic Services Laboratory, University of Chicago 2 1 3 3 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 0 2 0 0 0 9
Baylor Genetics 4 1 3 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 0 0 2 3 0 8
Neuberg Centre For Genomic Medicine, NCGM 3 2 3 0 0 0 8
GeneReviews 0 0 0 0 0 7 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 0 0 4 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 5 0 5
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 3 2 0 0 0 5
Revvity Omics, Revvity 3 0 1 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 2 0 2 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 0 0 0 0 4
Blueprint Genetics 0 2 2 0 0 0 4
Department of Immunology, Hospital Universitario Virgen del Rocio 4 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 2 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 4 0 0 0 0 0 4
3billion 2 1 1 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 0 1 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Mendelics 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 1
Immunogenetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 0 1

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