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 |
|
9
|
5
|
76
|
28
|
14
|
128
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Ambry Genetics
|
0 |
0 |
49
|
3
|
0 |
52
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
1
|
4
|
16
|
0 |
21
|
|
GeneDx
|
0 |
0 |
12
|
1
|
4
|
17
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
0 |
1
|
9
|
10
|
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
9
|
|
Labcorp Genetics (formerly Invitae), Labcorp
|
0 |
0 |
2
|
2
|
4
|
8
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
8
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
1
|
4
|
2
|
7
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
2
|
0 |
0 |
2
|
|
CHU Sainte-Justine Research Center, University of Montreal
|
0 |
0 |
0 |
2
|
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Division of Medical Genetics, Kanagawa Children s Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Grupo de Genetica Humana, Facultad de Medicina - Universidad de La Sabana
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Diagnostics Centre, Carl Von Ossietzky University Oldenburg
|
0 |
0 |
1
|
0 |
0 |
1
|
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