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 |
|
19
|
32
|
56
|
4
|
9
|
1
|
114
|
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 |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
38
|
4
|
8
|
0 |
50
|
|
Fulgent Genetics, Fulgent Genetics
|
2
|
11
|
7
|
1
|
0 |
0 |
21
|
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
2
|
7
|
0 |
0 |
0 |
9
|
|
Revvity Omics, Revvity
|
1
|
2
|
2
|
0 |
0 |
0 |
5
|
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
0 |
2
|
1
|
0 |
1
|
0 |
4
|
|
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
1
|
2
|
|
Genetic Services Laboratory, University of Chicago
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Dasa
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Genetics, Sultan Qaboos University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Dr.Nikuei Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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