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 |
|
18
|
27
|
137
|
11
|
21
|
204
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Fulgent Genetics, Fulgent Genetics
|
6
|
6
|
89
|
3
|
0 |
104
|
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
49
|
5
|
16
|
71
|
|
Baylor Genetics
|
9
|
20
|
8
|
0 |
0 |
37
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
1
|
0 |
1
|
2
|
7
|
11
|
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
1
|
8
|
9
|
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
8
|
|
Leiden Open Variation Database
|
8
|
0 |
0 |
0 |
0 |
8
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
1
|
1
|
3
|
|
Revvity Omics, Revvity
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Human Genetics Section, Sidra Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Istanbul Faculty of Medicine, Istanbul University
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
1
|
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