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 |
244
|
253
|
540
|
546
|
122
|
27
|
1555
|
Gene and significance breakdown #
Total genes and gene combinations: 18
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
POR
|
46
|
21
|
192
|
389
|
30
|
1
|
629
|
CYP11B1, LOC106799833
|
42
|
71
|
59
|
25
|
12
|
6
|
182
|
CYP21A2, LOC106780800
|
41
|
39
|
50
|
10
|
30
|
10
|
159
|
CYP17A1
|
36
|
46
|
38
|
15
|
4
|
3
|
126
|
STAR
|
20
|
42
|
60
|
13
|
5
|
0 |
126
|
CYP11B1
|
11
|
16
|
57
|
16
|
19
|
2
|
112
|
HSD3B2
|
22
|
11
|
36
|
23
|
11
|
0 |
85
|
LOC126860075, POR
|
7
|
0 |
20
|
49
|
4
|
1
|
74
|
CYP21A2
|
10
|
3
|
1
|
0 |
2
|
0 |
14
|
HSD3B2, LOC109029530
|
4
|
1
|
3
|
3
|
0 |
0 |
9
|
LOC129998680, POR
|
0 |
0 |
8
|
0 |
1
|
0 |
9
|
CYP17A1, LOC110408762
|
0 |
0 |
5
|
0 |
1
|
0 |
6
|
CYP21A2, LOC106780800, TNXB
|
3
|
0 |
1
|
0 |
3
|
3
|
6
|
LOC108863620, STAR
|
0 |
0 |
5
|
1
|
0 |
0 |
6
|
CYP11B1, LOC110673972
|
1
|
2
|
1
|
2
|
0 |
0 |
5
|
CYP21A2, LOC106780800, LOC110631417
|
1
|
1
|
0 |
0 |
0 |
1
|
3
|
POR, TMEM120A
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
CYP19A1, MIR4713HG, PIRC66
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
49
|
16
|
134
|
434
|
33
|
0 |
666
|
Illumina Laboratory Services, Illumina
|
3
|
1
|
297
|
21
|
46
|
0 |
368
|
Fulgent Genetics, Fulgent Genetics
|
35
|
27
|
40
|
51
|
2
|
0 |
155
|
Baylor Genetics
|
51
|
64
|
2
|
0 |
0 |
0 |
117
|
Natera, Inc.
|
29
|
8
|
26
|
31
|
10
|
0 |
104
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
38
|
38
|
9
|
3
|
2
|
3
|
93
|
Counsyl
|
17
|
48
|
24
|
0 |
0 |
0 |
89
|
OMIM
|
72
|
0 |
0 |
0 |
0 |
0 |
72
|
Institute of Human Genetics, Medical University Innsbruck
|
4
|
5
|
23
|
5
|
26
|
0 |
63
|
Myriad Genetics, Inc.
|
9
|
29
|
1
|
0 |
0 |
0 |
39
|
3billion
|
17
|
8
|
6
|
1
|
0 |
0 |
32
|
Clinical Biochemistry Laboratory, Health Services Laboratory
|
12
|
11
|
5
|
0 |
0 |
0 |
28
|
Genome-Nilou Lab
|
1
|
0 |
3
|
3
|
16
|
0 |
23
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
1
|
5
|
14
|
0 |
0 |
0 |
20
|
GeneReviews
|
4
|
0 |
0 |
0 |
0 |
14
|
18
|
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen
|
0 |
0 |
0 |
4
|
10
|
0 |
14
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
5
|
0 |
8
|
0 |
0 |
0 |
13
|
Revvity Omics, Revvity
|
5
|
5
|
2
|
0 |
0 |
0 |
12
|
Mendelics
|
6
|
0 |
3
|
0 |
3
|
0 |
12
|
Lifecell International Pvt. Ltd
|
6
|
3
|
1
|
0 |
0 |
0 |
10
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
3
|
3
|
4
|
0 |
0 |
0 |
10
|
Molecular Endocrinology Laboratory, Christian Medical College
|
1
|
6
|
3
|
0 |
0 |
0 |
10
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
6
|
1
|
0 |
0 |
1
|
0 |
8
|
Pecori Giraldi Lab, University of Milan
|
0 |
0 |
0 |
2
|
6
|
0 |
8
|
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
2
|
1
|
0 |
0 |
0 |
5
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
MGZ Medical Genetics Center
|
3
|
0 |
1
|
0 |
0 |
0 |
4
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
GenePathDx, GenePath diagnostics
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
DASA
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Department of Pediatric Endocrinology, Cukurova University Medical Faculty
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Reproductive Health Research and Development, BGI Genomics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Pars Genome Lab
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genomics England Pilot Project, Genomics England
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centro de Desenvolvimento Científico e Tecnológico, Secretaria da Saúde do Estado do Rio Grande do Sul
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Internal Medicine, University of Pretoria
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Obstetrics & Gynecology, Peking Union Medical College Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute Of Endocrinology, Diabetes, Thyroid & Osteoporosis Disorders, Sakra World Hospital, Unit Of Thakshasila Hospital Operating Private Limited
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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