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
33 50 59 26 30 15 180

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Polyglandular autoimmune syndrome, type 1 22 46 43 11 22 0 136
not provided 17 4 16 3 6 15 58
not specified 0 0 4 14 15 0 22
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

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 10 38 17 3 0 0 68
Invitae 7 1 22 6 21 0 57
GeneDx 14 2 5 3 0 0 24
Integrated Genetics/Laboratory Corporation of America 4 4 6 4 4 0 22
Athena Diagnostics Inc 5 1 3 0 9 0 18
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 0 0 0 2 8 0 10
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
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Fulgent Genetics 0 1 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1

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