ClinVar Miner

Variants in gene AIRE

Minimum submission review status: Collection method:
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Gene type:
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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
59 66 189 147 39 16 446

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Polyglandular autoimmune syndrome, type 1 52 61 175 122 36 1 415
not provided 18 5 18 18 7 15 78
not specified 0 0 6 17 15 0 27
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: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 41 14 125 125 29 0 334
Natera, Inc. 5 4 43 11 17 0 80
Counsyl 8 38 17 3 0 0 66
Integrated Genetics/Laboratory Corporation of America 7 4 8 8 5 0 32
GeneDx 14 3 5 4 0 0 26
Athena Diagnostics Inc 5 1 3 1 10 0 20
Genetic Services Laboratory, University of Chicago 0 0 3 9 3 0 15
UniProtKB/Swiss-Prot 0 0 0 0 0 15 15
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 5 0 4 0 13
OMIM 11 0 0 0 0 0 11
PreventionGenetics, PreventionGenetics 0 0 0 2 8 0 10
Myriad Women's Health, Inc. 3 4 0 0 0 0 7
Blueprint Genetics 2 1 2 0 0 0 5
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 4 0 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 1 1 0 0 4
Mendelics 1 0 1 0 1 0 3
New York Genome Center 1 0 2 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 1 1 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,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
Fulgent Genetics,Fulgent Genetics 0 1 0 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 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

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