ClinVar Miner

Variants in gene IKBKB

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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
18 13 246 425 42 728

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Severe combined immunodeficiency due to IKK2 deficiency 18 5 207 418 24 668
not provided 1 3 13 9 21 45
Inborn genetic diseases 0 0 41 3 0 44
not specified 0 0 6 1 8 15
IKBKB-related disorder 1 2 5 5 1 14
Immunodeficiency 15a 1 0 5 0 1 7
Severe combined immunodeficiency due to IKK2 deficiency; Immunodeficiency 15a 1 1 3 0 1 6
Severe combined immunodeficiency disease 0 2 0 0 0 2
Aganglionic megacolon 0 0 1 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 16 2 201 417 24 660
Ambry Genetics 0 0 41 3 0 44
GeneDx 1 1 5 0 17 24
Breakthrough Genomics, Breakthrough Genomics 0 0 3 3 14 20
PreventionGenetics, part of Exact Sciences 1 2 5 5 1 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 6 1 0 10
CeGaT Center for Human Genetics Tuebingen 0 1 3 5 1 10
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 6 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 1 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 1 4
OMIM 3 0 0 0 0 3
Baylor Genetics 1 0 2 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
Revvity Omics, Revvity 0 1 1 0 0 2
Mendelics 0 0 1 0 1 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Breda Genetics srl 0 0 1 0 0 1
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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