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 |
52
|
33
|
380
|
392
|
101
|
2
|
846
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
27
|
6
|
199
|
278
|
58
|
0 |
568
|
Ambry Genetics
|
4
|
1
|
106
|
66
|
18
|
0 |
195
|
GeneDx
|
5
|
7
|
40
|
58
|
58
|
0 |
168
|
Genetic Services Laboratory, University of Chicago
|
3
|
0 |
67
|
46
|
6
|
0 |
122
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
62
|
11
|
9
|
0 |
82
|
PreventionGenetics, part of Exact Sciences
|
1
|
1
|
1
|
34
|
12
|
0 |
49
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
1
|
2
|
26
|
3
|
0 |
34
|
Baylor Genetics
|
1
|
1
|
19
|
0 |
0 |
0 |
21
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
11
|
1
|
1
|
0 |
14
|
Revvity Omics, Revvity
|
1
|
0 |
9
|
0 |
0 |
0 |
10
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
1
|
1
|
7
|
1
|
0 |
0 |
10
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
1
|
3
|
1
|
1
|
0 |
6
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
4
|
1
|
0 |
0 |
5
|
New York Genome Center
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Mendelics
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bionano Laboratories
|
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
|
Department of Psychiatry, Nagoya University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Strasbourg University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
|
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
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Wangler Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Laboratory, Faculty of Medicine, Prince of Songkla University, Thailand
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Department of Biochemistry and Molecular Biology, Faculty of Medicine, Al-Neelain University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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