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 |
11
|
9
|
52
|
13
|
71
|
152
|
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 |
42
|
12
|
71
|
125
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
8
|
0 |
8
|
0 |
0 |
16
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
2
|
1
|
0 |
4
|
3billion
|
2
|
1
|
0 |
0 |
0 |
3
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
2
|
2
|
Yale Center for Mendelian Genomics, Yale University
|
1
|
1
|
0 |
0 |
0 |
2
|
Genomics England Pilot Project, Genomics England
|
1
|
1
|
0 |
0 |
0 |
2
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
1
|
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Biology Laboratory, Fundació Puigvert
|
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
Eurofins-Biomnis
|
0 |
1
|
0 |
0 |
0 |
1
|
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