ClinVar Miner

Variants in gene IL2RG

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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 not provided total
97 61 117 175 41 2 435

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
X-linked severe combined immunodeficiency 84 42 94 172 35 2 388
not provided 27 15 16 3 6 0 66
Combined immunodeficiency, X-linked 6 3 3 1 0 0 13
Inborn genetic diseases 1 1 9 0 0 0 11
not specified 0 0 5 2 2 0 8
IL2RG-related disorder 0 0 3 3 0 0 6
Combined immunodeficiency, X-linked; X-linked severe combined immunodeficiency 2 1 1 1 0 0 5
Combined immunodeficiency 0 1 0 0 0 0 1
See cases 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 65 16 79 153 34 0 347
GeneDx 20 8 9 2 5 0 44
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 20 6 9 6 1 0 42
Natera, Inc. 1 0 13 19 0 0 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 9 5 0 0 0 19
CeGaT Center for Human Genetics Tuebingen 5 5 3 1 0 0 14
OMIM 13 0 0 0 0 0 13
Ambry Genetics 1 1 9 0 0 0 11
Illumina Laboratory Services, Illumina 0 0 4 0 3 0 7
PreventionGenetics, part of Exact Sciences 0 0 3 3 0 0 6
Myriad Genetics, Inc. 0 6 0 0 0 0 6
Revvity Omics, Revvity 1 1 2 0 0 0 4
Mendelics 3 1 0 0 0 0 4
Genome-Nilou Lab 0 0 2 2 0 0 4
Fulgent Genetics, Fulgent Genetics 2 0 0 1 0 0 3
Blueprint Genetics 0 1 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 1 0 0 0 3
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 1 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 2 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 0 0 1 1 0 2
Laboratory of Hereditary Immune Disorders, Research Centre for Medical Genetics 1 1 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Counsyl 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Immunology Clinic, Ucla 1 0 0 0 0 0 1
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 1 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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