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 |
14
|
7
|
18
|
0 |
9
|
48
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
OMIM
|
10
|
0 |
0 |
0 |
10
|
Genome-Nilou Lab
|
0 |
0 |
0 |
9
|
9
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
8
|
0 |
8
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
2
|
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
2
|
0 |
3
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
2
|
1
|
0 |
0 |
3
|
Baylor Genetics
|
0 |
1
|
1
|
0 |
2
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
2
|
0 |
2
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
1
|
1
|
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
1
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
0 |
1
|
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
1
|
0 |
0 |
1
|
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