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 |
|
32
|
22
|
73
|
10
|
7
|
3
|
134
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Baylor Genetics
|
2
|
0 |
33
|
0 |
0 |
0 |
35
|
|
Revvity Omics, Revvity
|
5
|
3
|
22
|
0 |
0 |
0 |
30
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
9
|
7
|
0 |
0 |
17
|
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
|
Yale Center for Mendelian Genomics, Yale University
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
1
|
2
|
1
|
0 |
0 |
6
|
|
Breda Genetics srl
|
0 |
2
|
4
|
0 |
0 |
0 |
6
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
|
Mendelics
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
|
New York Genome Center
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
1
|
0 |
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Undiagnosed Diseases Network, NIH
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory of Medical Genetics, University of Torino
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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