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 |
total |
93
|
281
|
160
|
83
|
43
|
570
|
Gene and significance breakdown #
Total genes and gene combinations: 12
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Baylor Genetics
|
62
|
83
|
4
|
1
|
0 |
150
|
Natera, Inc.
|
28
|
6
|
48
|
29
|
34
|
145
|
Fulgent Genetics, Fulgent Genetics
|
15
|
19
|
43
|
45
|
3
|
125
|
Counsyl
|
11
|
61
|
31
|
8
|
1
|
112
|
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
|
1
|
108
|
0 |
0 |
0 |
109
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
37
|
19
|
0 |
0 |
0 |
56
|
Myriad Genetics, Inc.
|
3
|
34
|
5
|
0 |
0 |
42
|
Genome-Nilou Lab
|
1
|
1
|
7
|
6
|
13
|
28
|
Vasylyeva lab, Texas Tech University Health Sciences Center
|
13
|
3
|
7
|
0 |
1
|
24
|
Revvity Omics, Revvity Omics
|
6
|
6
|
6
|
0 |
0 |
18
|
Illumina Laboratory Services, Illumina
|
6
|
2
|
9
|
1
|
0 |
18
|
3billion
|
4
|
1
|
8
|
0 |
0 |
13
|
Broad Institute Rare Disease Group, Broad Institute
|
2
|
1
|
4
|
2
|
2
|
11
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
10
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
1
|
4
|
0 |
0 |
9
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
4
|
2
|
2
|
0 |
0 |
8
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
1
|
4
|
0 |
0 |
7
|
Mendelics
|
1
|
2
|
1
|
1
|
0 |
5
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
2
|
1
|
0 |
0 |
5
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
4
|
4
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
4
|
4
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
4
|
4
|
Blueprint Genetics
|
2
|
1
|
0 |
0 |
0 |
3
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
0 |
1
|
0 |
0 |
3
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
3
|
0 |
0 |
3
|
Genomics England Pilot Project, Genomics England
|
1
|
2
|
0 |
0 |
0 |
3
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
1
|
1
|
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
1
|
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
1
|
0 |
0 |
0 |
2
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
1
|
0 |
0 |
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
1
|
0 |
0 |
1
|
2
|
Pars Genome Lab
|
0 |
0 |
2
|
0 |
0 |
2
|
Precision Medicine Center, Zhengzhou University
|
0 |
1
|
1
|
0 |
0 |
2
|
Molecular Diagnostics Lab, Nemours Children's Health, Delaware
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
0 |
1
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
1
|
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
0 |
1
|
1
|
Department of Traditional Chinese Medicine, Fujian Provincial Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
0 |
1
|
0 |
0 |
0 |
1
|
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