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 |
|
10
|
11
|
9
|
0 |
0 |
29
|
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
total |
|
DLL4
|
10
|
11
|
8
|
28
|
|
DNAH1
|
0 |
0 |
1
|
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
total |
|
Centre of Medical Genetics, University of Antwerp
|
3
|
1
|
3
|
7
|
|
OMIM
|
6
|
0 |
0 |
6
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
2
|
2
|
|
3billion
|
0 |
1
|
0 |
1
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
1
|
|
CENTOGENE GmbH and LLC - Guiding Precision Medicine
|
0 |
1
|
0 |
1
|
|
Center of Medical Genomics-TUH, Thammasat University
|
0 |
1
|
0 |
1
|
|
Clinical Genetics Laboratory, Region Ostergotland
|
0 |
1
|
0 |
1
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
1
|
0 |
1
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
1
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
1
|
1
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
1
|
|
Institute of Human Genetics, Cologne University
|
0 |
0 |
1
|
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
1
|
|
MVZ Medizinische Genetik Mainz
|
0 |
1
|
0 |
1
|
|
Revvity Omics, Revvity
|
0 |
1
|
0 |
1
|
|
Variantyx, Inc.
|
0 |
1
|
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
0 |
1
|
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