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 |
likely risk allele |
uncertain risk allele |
not provided |
total |
208
|
146
|
711
|
896
|
124
|
4
|
1
|
5
|
1979
|
Gene and significance breakdown #
Total genes and gene combinations: 22
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
likely risk allele |
uncertain risk allele |
not provided |
total |
AIRE
|
123
|
105
|
340
|
520
|
51
|
0 |
0 |
3
|
1059
|
STAT1
|
37
|
19
|
185
|
241
|
28
|
0 |
0 |
2
|
506
|
FOXP3
|
32
|
12
|
119
|
103
|
43
|
3
|
1
|
0 |
288
|
HNF1A
|
6
|
5
|
40
|
16
|
1
|
0 |
0 |
0 |
68
|
AIRE, LOC130066813
|
6
|
2
|
14
|
14
|
1
|
0 |
0 |
0 |
35
|
intergenic
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
AIRE, LOC130066813, LOC130066814
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
AIRE, LOC130066814
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
C12orf43, HNF1A
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
CTLA4
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
INS, INS-IGF2
|
0 |
0 |
1
|
0 |
0 |
1
|
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 |
0 |
0 |
1
|
AIRE, CFAP410, PFKL
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AKAP4, ARAF, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CDK16, CFP, CLCN5, DGKK, EBP, ELK1, ERAS, FOXP3, FTSJ1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, INE1, JADE3, KCND1, LINC01560, MAGIX, MIR502, MIR532, NDUFB11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM10, RBM3, RGN, RP2, SHROOM4, SLC35A2, SLC38A5, SLC9A7, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SUV39H1, SYN1, SYP, TBC1D25, TFE3, TIMM17B, TIMP1, UBA1, USP11, USP27X, UXT, WAS, WDR13, WDR45, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ANKAR, ASNSD1, C2orf88, COL3A1, COL5A2, GLS, HIBCH, INPP1, MFSD6, MSTN, NAB1, NEMP2, ORMDL1, OSGEPL1, PMS1, SLC40A1, STAT1, STAT4, WDR75
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CACNA1F, CCDC22, CLCN5, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GPKOW, MAGIX, MIR502, MIR532, PAGE1, PAGE4, PLP2, PPP1R3F, PRICKLE3, SYP, USP27X, WDR45
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CCDC22, FOXP3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CEL
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
IL21R
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
INS, INS-IGF2, TH
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KCNJ11
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
STAT1, STAT4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
likely risk allele |
uncertain risk allele |
not provided |
total |
Invitae
|
150
|
54
|
582
|
862
|
117
|
0 |
0 |
0 |
1765
|
Natera, Inc.
|
12
|
10
|
109
|
20
|
22
|
0 |
0 |
0 |
173
|
Fulgent Genetics, Fulgent Genetics
|
10
|
11
|
65
|
32
|
1
|
0 |
0 |
0 |
119
|
Counsyl
|
8
|
38
|
17
|
3
|
0 |
0 |
0 |
0 |
66
|
OMIM
|
44
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
44
|
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health
|
28
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
32
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
13
|
6
|
2
|
2
|
2
|
0 |
0 |
0 |
25
|
Myriad Genetics, Inc.
|
3
|
15
|
0 |
0 |
0 |
0 |
0 |
0 |
18
|
Revvity Omics, Revvity
|
4
|
5
|
3
|
0 |
0 |
0 |
0 |
0 |
12
|
Genome-Nilou Lab
|
0 |
0 |
1
|
2
|
9
|
0 |
0 |
0 |
12
|
Neuberg Centre For Genomic Medicine, NCGM
|
4
|
2
|
6
|
0 |
0 |
0 |
0 |
0 |
12
|
New York Genome Center
|
1
|
0 |
10
|
0 |
0 |
0 |
0 |
0 |
11
|
Baylor Genetics
|
2
|
1
|
7
|
0 |
0 |
0 |
0 |
0 |
10
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
2
|
1
|
5
|
2
|
0 |
0 |
0 |
0 |
10
|
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
|
0 |
0 |
3
|
1
|
1
|
4
|
1
|
0 |
10
|
3billion
|
3
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
6
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
3
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
6
|
Genetic Services Laboratory, University of Chicago
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Mendelics
|
3
|
0 |
1
|
0 |
1
|
0 |
0 |
0 |
5
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
4
|
Genetics and Molecular Pathology, SA Pathology
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Genomics England Pilot Project, Genomics England
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
DASA
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LACE Laboratorios
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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