ClinVar Miner

Variants in gene IL2RA

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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
9 5 170 121 33 3 318

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Immunodeficiency due to CD25 deficiency 7 4 157 110 28 0 295
not provided 2 0 12 10 23 2 45
not specified 0 0 24 5 12 0 41
IL2RA-related disorder 0 0 0 5 0 0 5
Type 1 diabetes mellitus 10; Immunodeficiency due to CD25 deficiency 0 1 4 0 0 0 5
Type 1 diabetes mellitus 10 1 0 0 0 0 1 2
Myelodysplasia; Pleural effusion 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 4 3 106 103 13 0 229
Illumina Laboratory Services, Illumina 0 0 58 8 22 0 88
Breakthrough Genomics, Breakthrough Genomics 0 0 4 3 23 0 30
Ambry Genetics 0 0 20 4 0 0 24
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 9 0 9
OMIM 5 0 0 0 0 1 6
CeGaT Center for Human Genetics Tuebingen 0 0 2 4 0 0 6
PreventionGenetics, part of Exact Sciences 0 0 0 5 0 0 5
Eurofins Ntd Llc (ga) 1 0 2 0 2 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 1 0 0 4
Fulgent Genetics, Fulgent Genetics 0 1 3 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 0 2
GeneDx 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Mendelics 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
New York Genome Center 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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