ClinVar Miner

Variants in gene JAK3

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 not provided total
25 26 220 93 46 26 380

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 19 6 207 67 37 0 309
not provided 7 10 5 31 2 0 54
not specified 0 0 4 9 12 25 46
Severe combined immunodeficiency disease 0 5 0 2 4 1 12
Severe Combined Immune Deficiency 0 0 5 0 4 0 9
Acute megakaryoblastic leukemia 0 7 0 0 0 0 7
Leukemoid Reaction 0 3 0 0 0 0 3
Lymphoblastic leukemia, acute, with lymphomatous features 0 2 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 2
Adenoid cystic carcinoma 0 0 1 0 0 0 1
Myeloproliferative Neoplasm 0 1 0 0 0 0 1
NK-cell enteropathy 1 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 1
SCID, autosomal recessive, T-negative/B-positive type 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 9 4 115 70 22 0 220
Illumina Clinical Services Laboratory,Illumina 0 0 104 14 27 0 145
GeneDx 5 8 2 11 10 0 36
ITMI 0 0 0 0 0 25 25
Integrated Genetics/Laboratory Corporation of America 0 4 3 3 8 0 18
Database of Curated Mutations (DoCM) 0 8 0 0 0 0 8
OMIM 7 0 0 0 0 0 7
Baylor Genetics 1 1 5 0 0 0 7
Mendelics 2 1 0 1 0 0 4
Blueprint Genetics 1 0 3 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 2 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Laboratory of Pediatric Immunoinfectivology,Tor Vergata University 1 0 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 0 1 0 1

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