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 |
16
|
8
|
8
|
1
|
0 |
31
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
total |
CASK
|
16
|
8
|
8
|
1
|
31
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
total |
OMIM
|
9
|
0 |
0 |
0 |
9
|
Baylor Genetics
|
1
|
0 |
1
|
0 |
2
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
0 |
1
|
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
1
|
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
1
|
0 |
2
|
Center of Excellence for Medical Genomics, Chulalongkorn University
|
0 |
2
|
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
2
|
Mendelics
|
1
|
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
1
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
1
|
0 |
0 |
1
|
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
|
0 |
1
|
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
1
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
0 |
1
|
0 |
0 |
1
|
Laboratory of Medical Genetics, University of Torino
|
0 |
1
|
0 |
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
0 |
1
|
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
1
|
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