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 |
111
|
30
|
159
|
195
|
82
|
9
|
573
|
Gene and significance breakdown #
Total genes and gene combinations: 8
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
82
|
6
|
144
|
177
|
76
|
0 |
485
|
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust
|
0 |
0 |
2
|
19
|
5
|
0 |
26
|
3billion
|
5
|
12
|
2
|
0 |
0 |
0 |
19
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
0 |
11
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
8
|
8
|
Revvity Omics, Revvity Omics
|
1
|
0 |
5
|
0 |
0 |
0 |
6
|
Mendelics
|
3
|
0 |
1
|
1
|
1
|
0 |
6
|
Johns Hopkins Genomics, Johns Hopkins University
|
4
|
0 |
1
|
1
|
0 |
0 |
6
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
0 |
1
|
0 |
0 |
0 |
5
|
Medical Molecular Genetics Department, National Research Center
|
1
|
4
|
0 |
0 |
0 |
0 |
5
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
2
|
3
|
0 |
0 |
0 |
0 |
5
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
2
|
1
|
0 |
4
|
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
|
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
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
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
|
Institute of Human Genetics, University of Leipzig Medical Center
|
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
|
Gemeinschaftspraxis fuer Humangenetik Dresden
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
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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