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 |
21
|
10
|
82
|
16
|
90
|
206
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
65
|
16
|
43
|
124
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
68
|
68
|
OMIM
|
14
|
0 |
0 |
0 |
0 |
14
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
3
|
4
|
0 |
0 |
8
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
2
|
2
|
0 |
0 |
7
|
Baylor Genetics
|
1
|
1
|
2
|
0 |
0 |
4
|
MGZ Medical Genetics Center
|
0 |
0 |
3
|
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
3
|
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
2
|
Athena Diagnostics
|
0 |
0 |
0 |
0 |
1
|
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
1
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
0 |
1
|
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
1
|
0 |
0 |
1
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
0 |
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
1
|
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