ClinVar Miner

Variants in gene AIRE

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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
124 109 370 555 85 21 1127

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Polyglandular autoimmune syndrome, type 1 121 104 339 520 51 3 1057
not provided 20 6 33 32 52 18 149
not specified 0 0 18 23 24 0 52
AIRE-related condition 2 1 12 17 2 0 34
Inborn genetic diseases 0 0 26 2 0 0 28
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia 2 0 0 0 0 0 2
Autoimmune polyglandular syndrome type 1, autosomal dominant 1 0 0 0 0 0 1
Inherited Immunodeficiency Diseases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 105 33 280 516 46 0 980
Natera, Inc. 12 10 105 20 21 0 168
GeneDx 15 4 16 6 50 0 91
Counsyl 8 36 17 2 0 0 63
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 5 14 10 8 0 48
PreventionGenetics, part of Exact Sciences 2 1 12 18 10 0 43
CeGaT Center for Human Genetics Tuebingen 5 0 6 19 3 0 33
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 28 3 1 0 0 0 32
Fulgent Genetics, Fulgent Genetics 5 7 14 3 0 0 29
Genetic Services Laboratory, University of Chicago 1 0 6 13 8 0 28
Ambry Genetics 0 0 26 2 0 0 28
Athena Diagnostics Inc 5 1 3 2 10 0 21
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 11 8 0 21
Myriad Genetics, Inc. 3 15 0 0 0 0 18
UniProtKB/Swiss-Prot 0 0 0 0 0 15 15
Eurofins Ntd Llc (ga) 4 0 5 0 4 0 13
OMIM 11 0 0 0 0 0 11
Genome-Nilou Lab 0 0 1 2 8 0 11
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 4 6 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 8 1 0 10
Revvity Omics, Revvity 4 4 1 0 0 0 9
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 8 0 8
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 2 5 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 5 0 6
Blueprint Genetics 2 1 2 0 0 0 5
Mendelics 2 0 1 0 1 0 4
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 4 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
New York Genome Center 1 0 2 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Genomics England Pilot Project, Genomics England 1 2 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 1 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 2 0 0 0 0 0 2
3billion 1 0 1 0 0 0 2
DASA 2 0 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 2 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
LACE Laboratorios 0 1 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1

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