ClinVar Miner

Variants in gene JAK3

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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 affects not provided total
86 54 389 638 120 1 26 1215

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
T-B+ severe combined immunodeficiency due to JAK3 deficiency 83 30 359 614 57 0 1 1089
not provided 8 12 12 33 69 0 1 131
not specified 0 0 9 6 27 0 25 65
Severe combined immunodeficiency disease 2 7 5 1 8 0 1 24
JAK3-related condition 0 1 3 11 4 0 0 19
Inborn genetic diseases 0 0 17 1 0 0 0 18
Acute megakaryoblastic leukemia 0 7 0 0 0 0 0 7
Leukemoid reaction 0 3 0 0 0 0 0 3
Lymphoblastic leukemia, acute, with lymphomatous features 0 2 0 0 0 0 0 2
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 0 0 2 0 0 0 0 2
Adenoid cystic carcinoma 0 0 1 0 0 0 0 1
Hereditary spastic paraplegia 0 0 0 0 0 1 0 1
Myeloproliferative neoplasm 0 1 0 0 0 0 0 1
NK-cell enteropathy 1 0 0 0 0 0 0 1
Non-immune hydrops fetalis; Immunodeficiency; Trichiasis; Neonatal hypotonia; Lymphopenia; Abnormality of T cell physiology 0 0 1 0 0 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 75 18 269 602 45 0 0 1009
Illumina Laboratory Services, Illumina 0 0 104 14 27 0 0 145
GeneDx 6 8 4 19 77 0 0 114
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 6 8 3 9 0 0 28
ITMI 0 0 0 0 0 0 25 25
CeGaT Center for Human Genetics Tuebingen 2 1 4 10 3 0 0 20
PreventionGenetics, part of Exact Sciences 0 1 3 11 4 0 0 19
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 3 3 4 6 3 0 0 19
Ambry Genetics 0 0 17 1 0 0 0 18
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 17 0 0 17
Database of Curated Mutations (DoCM) 0 8 0 0 0 0 0 8
OMIM 7 0 0 0 0 0 0 7
Baylor Genetics 1 1 5 0 0 0 0 7
Fulgent Genetics, Fulgent Genetics 1 0 3 2 1 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 6 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 0 2 0 0 0 0 7
Revvity Omics, Revvity 1 3 2 0 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 0 0 0 5
Mendelics 2 1 0 1 0 0 0 4
Blueprint Genetics 1 0 3 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 0 0 0 2
Genomics Facility, Ludwig-Maximilians-Universität München 1 1 0 0 0 0 0 2
Eurofins-Biomnis 0 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 0 1
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 0 1
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 1 0 0 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 0 1 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Yunnan Provincial Key Laboratory of Clinical Virology, Institution of Basic and Clinical Medicine of Yunnan Province, The First People's Hospital of Yunnan Province 0 0 0 0 0 1 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 0 1

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