ClinVar Miner

Variants studied for hyper-IgE recurrent infection syndrome 1, autosomal dominant

Included ClinVar conditions (3):
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
40 27 238 246 59 7 599

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
STAT3 40 27 219 226 56 7 558
LOC130060888, STAT3 0 0 10 16 3 0 28
LOC130060889, STAT3 0 0 5 4 0 0 9
LOC130060892, STAT3 0 0 2 0 0 0 2
CAVIN1, STAT3, STAT5A, STAT5B 0 0 1 0 0 0 1
IL6ST 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 33 11 190 244 42 0 520
Illumina Laboratory Services, Illumina 0 0 40 5 21 0 66
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 6 1 0 2 0 12
OMIM 7 0 0 0 0 0 7
GeneReviews 0 0 0 0 0 5 5
Neuberg Centre For Genomic Medicine, NCGM 1 3 1 0 0 0 5
3billion 3 1 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 2 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Mendelics 0 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 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
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 0 1 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, 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 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

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.