ClinVar Miner

Variants studied for Polyglandular autoimmune syndrome, type 1

Coded as:
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
38 56 143 65 36 1 313

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AIRE 38 56 142 65 36 1 312
AIRE, CFAP410, DNMT3L, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LRRC3, PFKL, PTTG1IP, SUMO3, TRPM2, TSPEAR, UBE2G2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 24 11 97 60 29 0 221
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 3 2 2 0 18
OMIM 9 0 0 0 0 0 9
Myriad Women's Health, Inc. 3 4 0 0 0 0 7
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 4 0 0 0 0 4
Mendelics 1 0 1 0 1 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
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
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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