ClinVar Miner

Variants in gene STAT3

See also:
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 not provided total
61 62 316 303 111 9 788

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 34 15 202 261 42 1 554
not provided 15 29 42 39 54 2 177
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 15 18 44 6 23 6 106
not specified 0 0 21 19 21 0 59
STAT3-related early-onset multisystem autoimmune disease 16 5 8 0 2 0 30
STAT3-related disorder 1 3 10 9 1 0 24
Hyper-IgE syndrome 2 1 6 2 1 0 11
Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3-related early-onset multisystem autoimmune disease 2 0 6 0 1 0 9
Inborn genetic diseases 1 1 6 0 0 0 8
Inherited Immunodeficiency Diseases 2 1 3 0 0 0 6
EBV-positive nodal T- and NK-cell lymphoma 2 0 0 0 0 0 2
EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma 1 0 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 34 15 202 262 42 0 555
GeneDx 11 20 22 33 46 0 132
Illumina Laboratory Services, Illumina 0 0 43 7 22 0 72
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 7 18 6 17 0 53
CeGaT Center for Human Genetics Tuebingen 7 5 10 11 3 0 36
Breakthrough Genomics, Breakthrough Genomics 0 0 0 11 22 0 33
PreventionGenetics, part of Exact Sciences 1 1 10 9 3 0 24
OMIM 14 0 0 0 0 0 14
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 9 0 0 0 0 0 9
Ambry Genetics 1 1 6 0 0 0 8
Blueprint Genetics 2 3 3 0 0 0 8
Genetic Services Laboratory, University of Chicago 0 0 1 2 3 0 6
Mayo Clinic Laboratories, Mayo Clinic 2 0 4 0 0 0 6
NIHR Bioresource Rare Diseases, University of Cambridge 2 1 3 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 3 2 1 0 0 0 6
3billion 5 1 0 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 2 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 3 1 0 0 0 5
Baylor Genetics 2 0 2 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 2 2 0 4
Fulgent Genetics, Fulgent Genetics 0 0 3 0 1 0 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 4 0 0 0 4
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 4 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 2 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 2 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 1 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 1 0 0 0 3
Revvity Omics, Revvity 1 0 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Mendelics 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Department of Immunology, University Hospital Southampton NHSFT 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 1 0 0 0 0 2
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 2 0 0 0 0 0 2
Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis 2 0 0 0 0 0 2
Department of Clinical Pathology, School of Medicine, Fujita Health University 2 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Institute of Medical Genetics, University of Zurich 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Clinical Genomics Labs, University Health Network 1 0 0 0 0 0 1
Department Of Pathology & Laboratory Medicine, University Of Pennsylvania 1 0 0 0 0 0 1

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