ClinVar Miner

Variants studied for Granulomatous disease, chronic, X-linked

Coded as:
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
136 32 126 289 54 1 627

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CYBB 124 30 122 278 53 1 597
CYBB, LOC130068093 7 1 3 11 1 0 23
CYBB, XK 3 0 0 0 0 0 3
LOC106029312, NCF1 1 1 0 0 0 0 2
CYBA 0 0 1 0 0 0 1
CYBB, DYNLT3, H2AP, OTC, RPGR, SRPX, SYTL5 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 109 18 116 287 52 0 582
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 5 2 2 1 0 26
OMIM 13 0 0 0 0 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 3 0 0 0 5
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 3 0 0 0 0 4
Natera, Inc. 0 0 3 0 0 0 3
Mendelics 1 1 0 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 3 0 0 0 0 0 3
Genomics Facility, Ludwig-Maximilians-Universität München 1 1 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 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Koker Lab, University of Erciyes Medical School 1 0 0 0 0 0 1
3billion, Medical Genetics 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP)- HUVH-VHIR, Vall d'Hebron University Hospital 1 0 0 0 0 0 1
Unidad de Medicina Traslacional, Hospital de Ninos Ricardo Gutierrez 1 0 0 0 0 0 1

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