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 |
88
|
27
|
255
|
234
|
32
|
4
|
602
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
75
|
14
|
210
|
229
|
27
|
0 |
555
|
Illumina Laboratory Services, Illumina
|
2
|
1
|
51
|
5
|
13
|
0 |
72
|
OMIM
|
12
|
0 |
1
|
0 |
0 |
0 |
13
|
Mendelics
|
3
|
2
|
2
|
2
|
1
|
0 |
10
|
Baylor Genetics
|
3
|
0 |
2
|
0 |
0 |
0 |
5
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
3
|
0 |
2
|
0 |
0 |
0 |
5
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
3billion
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dr. Faghihi's Medical Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomics Facility, Ludwig-Maximilians-Universität München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
1
|
0 |
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
|
Genetic Diagnostics Department, Viafet Genomics Laboratory
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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