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 |
13
|
3
|
4
|
0 |
0 |
18
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
total |
OMIM
|
5
|
0 |
0 |
5
|
Baylor Genetics
|
2
|
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
2
|
Biochemistry and Genetic Laboratory, APHP Bichat Claude Bernard Hospital
|
2
|
0 |
0 |
2
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
1
|
Mendelics
|
0 |
1
|
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
1
|
University of Washington Center for Mendelian Genomics, University of Washington
|
1
|
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
1
|
Pediatric Neurology and Rare Diseases Department, Hospital Sant Joan de Deu
|
1
|
0 |
0 |
1
|
Pediatric Genetics Clinic, Sheba Medical Center
|
1
|
0 |
0 |
1
|
Clinical Genetics Laboratory, Tang Du Hospital of the Air Force Military Medical University
|
1
|
0 |
0 |
1
|
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