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 |
194
|
149
|
861
|
537
|
187
|
1
|
1795
|
Gene and significance breakdown #
Total genes and gene combinations: 17
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
60
|
11
|
496
|
490
|
96
|
0 |
1153
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
290
|
27
|
80
|
0 |
397
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
3
|
3
|
32
|
18
|
39
|
0 |
95
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
82
|
0 |
0 |
0 |
0 |
82
|
Dan Cohn Lab, University Of California Los Angeles
|
74
|
2
|
2
|
0 |
0 |
0 |
78
|
OMIM
|
37
|
0 |
0 |
0 |
0 |
0 |
37
|
Revvity Omics, Revvity
|
6
|
7
|
23
|
1
|
0 |
0 |
37
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
35
|
0 |
35
|
Fulgent Genetics, Fulgent Genetics
|
0 |
2
|
12
|
8
|
1
|
0 |
23
|
Baylor Genetics
|
5
|
2
|
12
|
0 |
0 |
0 |
19
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
6
|
5
|
0 |
0 |
0 |
12
|
Mendelics
|
1
|
2
|
1
|
0 |
5
|
0 |
9
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
4
|
4
|
0 |
0 |
0 |
9
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
4
|
5
|
0 |
0 |
0 |
0 |
9
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
5
|
1
|
3
|
0 |
0 |
0 |
9
|
3billion
|
0 |
3
|
5
|
0 |
0 |
0 |
8
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
5
|
0 |
0 |
0 |
0 |
7
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
3
|
1
|
0 |
0 |
0 |
5
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
2
|
2
|
1
|
0 |
0 |
0 |
5
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Genomic Medicine Lab, University of California San Francisco
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
SIB Swiss Institute of Bioinformatics
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Care4Rare-SOLVE, CHEO
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Department Of Medical Genetics, Faculty Of Medicine, Ege University
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Precision Medical Center, Maternal and Child Health Hospital of Hubei Province
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Cormier-Daire Lab, IMAGINE
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Biology Laboratory, Fundació Puigvert
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
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 |
0 |
1
|
0 |
0 |
0 |
1
|
Genetic Diagnostics Department, Viafet Genomics Laboratory
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
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
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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