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 |
132
|
38
|
193
|
196
|
87
|
9
|
637
|
Gene and significance breakdown #
Total genes and gene combinations: 10
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
82
|
6
|
144
|
177
|
76
|
0 |
485
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
26
|
1
|
3
|
0 |
31
|
OMIM
|
26
|
0 |
0 |
0 |
0 |
0 |
26
|
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust
|
0 |
0 |
2
|
19
|
5
|
0 |
26
|
3billion
|
5
|
14
|
4
|
0 |
0 |
0 |
23
|
Fulgent Genetics, Fulgent Genetics
|
1
|
2
|
3
|
2
|
1
|
0 |
9
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
8
|
8
|
Revvity Omics, Revvity
|
1
|
0 |
5
|
0 |
0 |
0 |
6
|
Mendelics
|
3
|
0 |
1
|
1
|
1
|
0 |
6
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
0 |
2
|
0 |
0 |
0 |
6
|
Medical Molecular Genetics Department, National Research Center
|
1
|
5
|
0 |
0 |
0 |
0 |
6
|
Johns Hopkins Genomics, Johns Hopkins University
|
4
|
0 |
1
|
1
|
0 |
0 |
6
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
3
|
3
|
0 |
0 |
0 |
0 |
6
|
Baylor Genetics
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Autoinflammatory diseases unit, CHU de Montpellier
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genomics Program, Stanford Medicine
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Gemeinschaftspraxis fuer Humangenetik Dresden
|
1
|
0 |
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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