ClinVar Miner

Variants in gene STAT3

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
33 39 146 71 48 1 319

Condition and significance breakdown #

Total conditions: 11
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 11 6 77 37 12 0 143
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 8 9 43 6 22 0 88
not provided 12 22 11 22 17 1 84
not specified 0 0 7 15 7 0 28
Autoimmune disease, multisystem, infantile-onset, 1 13 3 3 0 0 0 19
Hyper-IgE syndrome 2 1 6 2 1 0 12
Inherited Immunodeficiency Diseases 2 1 3 0 0 0 6
Adenoid cystic carcinoma 0 0 1 0 0 0 1
Hyper-IgE recurrent infection syndrome 1, autosomal dominant; Autoimmune disease, multisystem, infantile-onset, 1 0 0 1 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 0 1
none provided 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 32
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 6 77 48 13 0 155
Illumina Clinical Services Laboratory,Illumina 0 0 46 7 22 0 75
GeneDx 9 16 2 17 17 0 61
Integrated Genetics/Laboratory Corporation of America 2 7 11 1 8 0 29
OMIM 14 0 0 0 0 0 14
CeGaT Praxis fuer Humangenetik Tuebingen 6 2 5 0 0 0 13
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 9 0 0 0 0 0 9
Blueprint Genetics 2 3 3 0 0 0 8
NIHR Bioresource Rare Diseases, University of Cambridge 2 1 3 0 0 0 6
GeneReviews 5 0 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 2 2 0 4
Baylor Genetics 2 0 1 0 0 0 3
PreventionGenetics, PreventionGenetics 0 0 0 0 2 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
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Department of Immunology,University Hospital Southampton NHSFT 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 1
Ambry Genetics 0 1 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 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 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 0 1 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.