ClinVar Miner

Variants in gene CYBB

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 17 25 6 7 61 151

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 32 8 5 1 0 61 102
Chronic granulomatous disease, X-linked 25 9 14 2 7 0 54
not specified 0 0 3 3 4 0 10
Granulomatous disease, chronic, X-linked, variant 7 0 0 0 0 0 7
Atypical mycobacteriosis, familial, X-linked 2 2 0 0 0 0 0 2
Chronic granulomatous disease 2 0 0 0 0 0 2
Atypical mycobacteriosis, familial, X-linked 2; Chronic granulomatous disease, X-linked 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Primary ciliary dyskinesia; Recurrent bronchitis; Dynein arm defect of respiratory motile cilia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
UniProtKB/Swiss-Prot 0 0 0 0 0 61 61
GeneDx 32 7 2 1 0 0 42
Invitae 12 3 12 0 6 0 33
OMIM 22 0 0 0 0 0 22
Integrated Genetics/Laboratory Corporation of America 5 4 6 3 2 0 20
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 2 0 2
GeneReviews 2 0 0 0 0 0 2
Blueprint Genetics 0 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 1
Ambry Genetics 0 0 1 0 0 0 1
PreventionGenetics 0 0 0 0 1 0 1
Mendelics 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 1
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 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.