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
136 117 383 563 53 3 1169

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AIRE 128 115 365 546 52 3 1125
AIRE, LOC130066813 6 2 14 15 1 0 36
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
AIRE, DNMT3L, ICOSLG 0 0 1 0 0 0 1
CYBA 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 115 33 321 557 48 0 1074
Natera, Inc. 12 10 109 20 22 0 173
Counsyl 8 38 17 3 0 0 66
Fulgent Genetics, Fulgent Genetics 10 22 14 3 0 0 49
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 28 3 1 0 0 0 32
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 14 6 2 2 2 0 26
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 1 0 0 0 0 2
3billion, Medical Genetics 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 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 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

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