ClinVar Miner

Variants studied for granulomatous disease, chronic, X-linked

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
132 31 101 280 53 1 585

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 121 29 97 269 52 1 556
CYBB, LOC130068093 6 1 3 11 1 0 22
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: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 100 17 90 277 51 0 535
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 5 2 2 1 0 25
OMIM 20 0 0 0 0 0 20
Fulgent Genetics, Fulgent Genetics 1 0 3 2 0 0 6
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 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
New York Genome Center 0 0 1 0 0 0 1
Koker Lab, University of Erciyes Medical School 1 0 0 0 0 0 1
3billion 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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