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 |
288
|
116
|
501
|
316
|
48
|
4
|
1159
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
192
|
22
|
374
|
255
|
18
|
0 |
861
|
GeneDx
|
50
|
37
|
78
|
68
|
40
|
0 |
273
|
Ambry Genetics
|
13
|
2
|
20
|
37
|
16
|
0 |
88
|
CeGaT Center for Human Genetics Tuebingen
|
11
|
6
|
16
|
21
|
0 |
0 |
54
|
Eurofins Ntd Llc (ga)
|
5
|
1
|
18
|
3
|
15
|
0 |
42
|
Genetic Services Laboratory, University of Chicago
|
1
|
1
|
19
|
12
|
7
|
0 |
40
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
2
|
21
|
4
|
0 |
27
|
Athena Diagnostics Inc
|
8
|
1
|
6
|
3
|
4
|
0 |
22
|
Mendelics
|
13
|
6
|
1
|
1
|
0 |
0 |
21
|
Neurogenetics Research Program, University of Adelaide
|
0 |
12
|
2
|
3
|
1
|
0 |
18
|
Revvity Omics, Revvity
|
1
|
3
|
10
|
0 |
0 |
0 |
14
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
10
|
2
|
0 |
0 |
0 |
0 |
12
|
Pediatric Department, Peking University First Hospital
|
4
|
6
|
0 |
0 |
0 |
0 |
10
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
5
|
3
|
0 |
0 |
0 |
10
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
2
|
0 |
0 |
5
|
2
|
0 |
9
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
1
|
4
|
2
|
0 |
9
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
7
|
0 |
1
|
0 |
0 |
0 |
8
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
1
|
3
|
0 |
0 |
0 |
7
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
7
|
0 |
0 |
7
|
Baylor Genetics
|
2
|
1
|
3
|
0 |
0 |
0 |
6
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
1
|
1
|
1
|
2
|
0 |
0 |
5
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
1
|
1
|
3
|
0 |
0 |
5
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
3
|
1
|
0 |
4
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
New York Genome Center
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
1
|
2
|
0 |
3
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
3billion
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Strasbourg University Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Department of Developmental Neurology, Medical University of Gdańsk
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Blueprint Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ISCA site 1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
0 |
1
|
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
|
Ege University Pediatric Genetics, Ege University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Bioinformatics Core, Luxembourg Center for Systems Biomedicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Genetics Department, Polish Mother's Memorial Hospital Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Center of Excellence for Medical Genomics, Chulalongkorn University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Department of Laboratory Medicine, Yonsei University College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pediatrics, MediClubGeorgia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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