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
129 107 357 536 52 3 1099

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AIRE 122 105 340 520 51 3 1058
AIRE, LOC130066813 6 2 14 14 1 0 35
AIRE, LOC130066813, LOC130066814 1 0 1 0 0 0 2
AIRE, LOC130066814 0 0 0 2 0 0 2
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
AIRE, CFAP410, PFKL 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 110 33 294 530 47 0 1014
Natera, Inc. 12 10 109 20 22 0 173
Counsyl 8 38 17 3 0 0 66
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 5 2 2 2 0 22
Myriad Genetics, Inc. 3 15 0 0 0 0 18
Genome-Nilou Lab 0 0 1 2 8 0 11
OMIM 10 0 0 0 0 0 10
Revvity Omics, Revvity 4 4 2 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 1 2 5 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 2 1 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
New York Genome Center 1 0 2 0 0 0 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
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
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
3billion 1 0 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 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
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
LACE Laboratorios 0 1 0 0 0 0 1

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