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 |
62
|
25
|
13
|
4
|
0 |
102
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
total |
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
8
|
1
|
5
|
0 |
14
|
3billion
|
6
|
6
|
1
|
0 |
13
|
OMIM
|
9
|
0 |
0 |
0 |
9
|
Baylor Genetics
|
6
|
0 |
2
|
0 |
8
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
1
|
4
|
7
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
3
|
0 |
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
4
|
1
|
0 |
0 |
5
|
GenomeConnect - Simons Searchlight
|
5
|
0 |
0 |
0 |
5
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
4
|
0 |
0 |
0 |
4
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
2
|
0 |
0 |
4
|
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals
|
3
|
0 |
0 |
0 |
3
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
3
|
0 |
0 |
0 |
3
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
2
|
0 |
0 |
3
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
3
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Goettingen
|
0 |
2
|
0 |
0 |
2
|
MGZ Medical Genetics Center
|
2
|
0 |
0 |
0 |
2
|
Illumina Laboratory Services, Illumina
|
2
|
0 |
0 |
0 |
2
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
2
|
0 |
2
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
1
|
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
1
|
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
1
|
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
1
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
1
|
0 |
0 |
0 |
1
|
Laboratory of Human Genetics, Universidade de São Paulo
|
1
|
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
1
|
Department of Medical Genetics, University of Szeged
|
1
|
0 |
0 |
0 |
1
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
1
|
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
0 |
1
|
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
1
|
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
1
|
0 |
0 |
1
|
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre
|
1
|
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
0 |
1
|
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
1
|
0 |
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
1
|
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea
|
1
|
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Stanford Medicine
|
1
|
0 |
0 |
0 |
1
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
1
|
0 |
0 |
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
1
|
0 |
0 |
0 |
1
|
Pediatric Genetics Clinic, Sheba Medical Center
|
1
|
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
1
|
0 |
0 |
0 |
1
|
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)
|
1
|
0 |
0 |
0 |
1
|
Solve-RD Consortium
|
0 |
1
|
0 |
0 |
1
|
Hwang Lab, John A. Moran Eye Center
|
1
|
0 |
0 |
0 |
1
|
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