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 |
14
|
13
|
10
|
1
|
7
|
38
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
PDZD7
|
14
|
13
|
10
|
1
|
7
|
38
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
OMIM
|
10
|
0 |
0 |
0 |
0 |
10
|
Genome-Nilou Lab
|
0 |
0 |
0 |
1
|
7
|
8
|
Baylor Genetics
|
1
|
2
|
2
|
0 |
0 |
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
3
|
0 |
0 |
5
|
SIB Swiss Institute of Bioinformatics
|
0 |
4
|
1
|
0 |
0 |
5
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
1
|
1
|
0 |
0 |
2
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
2
|
0 |
0 |
2
|
Institute of Rare Diseases, West China Hospital, Sichuan University
|
1
|
1
|
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
1
|
King Laboratory, University of Washington
|
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
1
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
0 |
1
|
0 |
0 |
0 |
1
|
Genetics Laboratory, Department of Biology, Semnan University
|
1
|
0 |
0 |
0 |
0 |
1
|
3billion, Medical Genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean
|
0 |
1
|
0 |
0 |
0 |
1
|
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