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 |
not provided |
total |
|
20
|
18
|
10
|
0 |
2
|
2
|
51
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
|
GNAO1
|
20
|
18
|
10
|
2
|
2
|
51
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
|
Mendelics
|
5
|
4
|
0 |
0 |
0 |
9
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
4
|
0 |
0 |
6
|
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
4
|
|
3billion
|
2
|
2
|
0 |
0 |
0 |
4
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
1
|
0 |
0 |
0 |
3
|
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
2
|
1
|
0 |
0 |
0 |
3
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
2
|
0 |
0 |
0 |
2
|
|
MGZ Medical Genetics Center
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Pediatric Department, Peking University First Hospital
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
2
|
0 |
2
|
|
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Genomeconnect - The Bow Foundation (GNAO1)
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Baylor Genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN)
|
1
|
0 |
0 |
0 |
0 |
1
|
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
1
|
|
TIDEX, University of British Columbia
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
1
|
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
1
|
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