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 |
7
|
7
|
3
|
0 |
0 |
16
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
total |
GABRA1
|
7
|
7
|
3
|
16
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
total |
OMIM
|
3
|
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
1
|
2
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
1
|
0 |
2
|
Mendelics
|
1
|
0 |
0 |
1
|
Institute of Human Genetics,Klinikum rechts der Isar
|
0 |
1
|
0 |
1
|
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg
|
1
|
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
1
|
1
|
Center of Genomic medicine, Geneva,University Hospital of Geneva
|
0 |
1
|
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
1
|
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
|
0 |
0 |
1
|
1
|
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia
|
0 |
1
|
0 |
1
|
Cavalleri Lab, Royal College of Surgeons in Ireland
|
0 |
1
|
0 |
1
|
Genatak
|
1
|
0 |
0 |
1
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
0 |
0 |
1
|
1
|
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