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 |
180
|
57
|
292
|
195
|
238
|
2
|
956
|
Gene and significance breakdown #
Total genes and gene combinations: 16
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
77
|
28
|
44
|
165
|
97
|
0 |
411
|
Illumina Clinical Services Laboratory,Illumina
|
1
|
1
|
228
|
30
|
137
|
0 |
397
|
OMIM
|
65
|
0 |
0 |
0 |
0 |
0 |
65
|
Clinical Genetics Research Group, University of Calgary
|
18
|
0 |
0 |
0 |
0 |
0 |
18
|
Genetic Services Laboratory,University of Chicago
|
11
|
2
|
0 |
0 |
0 |
0 |
13
|
Fulgent Genetics,Fulgent Genetics
|
2
|
2
|
3
|
0 |
0 |
0 |
7
|
Centre for Mendelian Genomics,University Medical Centre Ljubljana
|
1
|
1
|
5
|
0 |
0 |
0 |
7
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
|
1
|
2
|
1
|
0 |
1
|
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
4
|
0 |
0 |
0 |
5
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Department of Medical Genetics, Oslo University Hospital
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Service de Génétique Moléculaire,Hôpital Robert Debré
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Mendelics
|
1
|
0 |
0 |
1
|
1
|
0 |
3
|
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Baylor Genetics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics,Cologne University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Integrated Genetics/Laboratory Corporation of America
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics,Klinikum rechts der Isar
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics,Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
University of Washington Center for Mendelian Genomics, University of Washington
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Gene Discovery Core-Manton Center,Boston Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network,NIH
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biochemistry Laboratory of CDMU,Chengde Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Klinisk genetik och genomik Research,Gothenburg University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomics, and Precision Dentistry Research Unit, Faculty of Dentistry, Chulalongkorn University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics,The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CNRS UMR1283,Université de Lille
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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