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
|
10
|
0 |
1
|
31
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
8
|
2
|
0 |
0 |
10
|
OMIM
|
5
|
0 |
0 |
0 |
5
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
1
|
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
1
|
0 |
2
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
1
|
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
2
|
0 |
0 |
2
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
1
|
0 |
2
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
1
|
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
0 |
1
|
0 |
1
|
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia
|
0 |
1
|
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
1
|
1
|
3billion
|
0 |
0 |
1
|
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
0 |
1
|
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
1
|
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