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 |
drug response |
total |
193
|
298
|
334
|
955
|
90
|
3
|
1620
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
drug response |
total |
Invitae
|
159
|
50
|
70
|
897
|
65
|
0 |
1241
|
Baylor Genetics
|
58
|
76
|
3
|
1
|
0 |
0 |
138
|
Illumina Laboratory Services, Illumina
|
6
|
2
|
107
|
11
|
12
|
0 |
138
|
Natera, Inc.
|
26
|
6
|
45
|
25
|
29
|
0 |
131
|
Fulgent Genetics, Fulgent Genetics
|
14
|
19
|
41
|
43
|
2
|
0 |
119
|
Counsyl
|
11
|
57
|
31
|
6
|
1
|
0 |
106
|
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
|
0 |
103
|
0 |
0 |
0 |
0 |
103
|
GeneDx
|
9
|
3
|
14
|
31
|
36
|
0 |
93
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
35
|
19
|
20
|
4
|
10
|
0 |
88
|
PreventionGenetics, part of Exact Sciences
|
5
|
1
|
6
|
36
|
18
|
0 |
66
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
0 |
4
|
19
|
14
|
8
|
0 |
45
|
Athena Diagnostics Inc
|
10
|
1
|
10
|
4
|
14
|
0 |
39
|
Ambry Genetics
|
1
|
0 |
34
|
2
|
0 |
0 |
37
|
Myriad Genetics, Inc.
|
2
|
26
|
3
|
0 |
0 |
0 |
31
|
Genome-Nilou Lab
|
1
|
1
|
6
|
5
|
12
|
0 |
25
|
Vasylyeva lab, Texas Tech University Health Sciences Center
|
11
|
4
|
4
|
0 |
1
|
0 |
20
|
Revvity Omics, Revvity
|
6
|
6
|
6
|
0 |
0 |
0 |
18
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
0 |
5
|
7
|
1
|
0 |
14
|
3billion
|
4
|
1
|
8
|
0 |
0 |
0 |
13
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
2
|
0 |
1
|
1
|
8
|
0 |
12
|
Yale Center for Mendelian Genomics, Yale University
|
1
|
11
|
0 |
0 |
0 |
0 |
12
|
Blueprint Genetics
|
1
|
2
|
6
|
1
|
0 |
0 |
10
|
Sydney Genome Diagnostics, Children's Hospital Westmead
|
6
|
3
|
1
|
0 |
0 |
0 |
10
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
2
|
0 |
6
|
0 |
9
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
2
|
1
|
1
|
0 |
5
|
0 |
9
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
1
|
3
|
0 |
0 |
0 |
8
|
Gharavi Laboratory, Columbia University
|
1
|
2
|
5
|
0 |
0 |
0 |
8
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
2
|
0 |
0 |
1
|
4
|
0 |
7
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
1
|
4
|
0 |
1
|
0 |
7
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
1
|
4
|
0 |
0 |
0 |
7
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
1
|
0 |
4
|
1
|
0 |
0 |
6
|
Mendelics
|
1
|
2
|
1
|
1
|
0 |
0 |
5
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
2
|
1
|
0 |
0 |
0 |
5
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Genomics England Pilot Project, Genomics England
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Department of Traditional Chinese Medicine, Fujian Provincial Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
1
|
0 |
0 |
1
|
0 |
2
|
Pars Genome Lab
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Lab, Nemours Children's Health, Delaware
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
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
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Precision Medicine Center, Zhengzhou University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
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 |
0 |
1
|
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