ClinVar Miner

Variants in gene CYB5R3

See also:
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 total
32 16 87 66 48 227

Condition and significance breakdown #

Total conditions: 12
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 12 10 51 65 48 175
Deficiency of cytochrome-b5 reductase 7 8 21 0 0 32
Inborn genetic diseases 0 0 26 1 0 27
METHEMOGLOBINEMIA, TYPE I 12 0 0 0 0 12
CYB5R3-related disorder 0 2 2 6 0 10
METHEMOGLOBINEMIA, TYPE II 10 0 0 0 0 10
not specified 0 0 4 0 3 7
Central core myopathy 1 1 1 0 0 3
Hereditary methemoglobinemia 2 0 1 0 0 3
CYB5R3 POLYMORPHISM 0 0 0 0 1 1
Intellectual disability 0 0 1 0 0 1
Neurodevelopmental delay 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 10 4 29 60 13 116
GeneDx 4 3 7 0 37 51
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 16 8 8 33
Ambry Genetics 0 0 26 1 0 27
Revvity Omics, Revvity 2 2 16 0 0 20
Breakthrough Genomics, Breakthrough Genomics 0 0 1 2 17 20
OMIM 18 0 0 0 1 19
PreventionGenetics, part of Exact Sciences 0 2 2 6 3 13
CeGaT Center for Human Genetics Tuebingen 1 2 3 5 1 12
Mayo Clinic Laboratories, Mayo Clinic 0 3 5 0 0 8
Fulgent Genetics, Fulgent Genetics 2 1 2 0 0 5
Department of Haematogenetics, ICMR National Institute of Immunohaematology 4 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 1 2 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 1 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 3
Mendelics 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 1 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 1
Hb Lab, Kinderklinik Ulm, University Hospital Ulm 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 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.