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 |
15
|
10
|
2
|
0 |
1
|
1
|
27
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
MVP-DT, PRRT2
|
14
|
10
|
2
|
1
|
1
|
26
|
PRRT2
|
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
OMIM
|
6
|
0 |
0 |
0 |
0 |
6
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
2
|
1
|
0 |
0 |
5
|
MGZ Medical Genetics Center
|
2
|
2
|
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
2
|
0 |
0 |
0 |
3
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
2
|
1
|
0 |
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
3
|
0 |
0 |
0 |
0 |
3
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
2
|
0 |
0 |
0 |
2
|
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University
|
2
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
1
|
GeneReviews
|
0 |
0 |
0 |
0 |
1
|
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
1
|
0 |
0 |
0 |
1
|
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research
|
1
|
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
1
|
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
1
|
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
1
|
Pediatrics, Sichuan Provincial Hospital For Women And Children
|
1
|
0 |
0 |
0 |
0 |
1
|
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