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 |
total |
|
27
|
31
|
144
|
29
|
34
|
253
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Fulgent Genetics, Fulgent Genetics
|
7
|
18
|
86
|
2
|
1
|
114
|
|
Genome-Nilou Lab
|
5
|
2
|
44
|
19
|
30
|
100
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
2
|
1
|
2
|
4
|
18
|
27
|
|
OMIM
|
16
|
0 |
0 |
0 |
0 |
16
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
2
|
5
|
4
|
3
|
14
|
|
Revvity Omics, Revvity
|
4
|
5
|
4
|
0 |
0 |
13
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
8
|
2
|
0 |
0 |
0 |
10
|
|
Baylor Genetics
|
3
|
1
|
5
|
0 |
0 |
9
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
3
|
2
|
0 |
6
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
3
|
0 |
0 |
5
|
|
Mendelics
|
2
|
0 |
2
|
0 |
0 |
4
|
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
3
|
0 |
0 |
4
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
1
|
0 |
4
|
|
Godley laboratory, The University of Chicago
|
0 |
0 |
3
|
0 |
0 |
3
|
|
New York Genome Center
|
0 |
1
|
2
|
0 |
0 |
3
|
|
Genetic Services Laboratory, University of Chicago
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
0 |
1
|
0 |
1
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
0 |
1
|
0 |
0 |
0 |
1
|
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
0 |
0 |
1
|
0 |
0 |
1
|
|
DBGen Ocular Genomics
|
1
|
0 |
0 |
0 |
0 |
1
|
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