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 |
12
|
11
|
13
|
2
|
8
|
1
|
41
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
PDZD7
|
12
|
11
|
13
|
2
|
8
|
1
|
41
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
5
|
1
|
1
|
0 |
8
|
Genome-Nilou Lab
|
0 |
0 |
0 |
1
|
7
|
0 |
8
|
Baylor Genetics
|
1
|
2
|
2
|
0 |
0 |
0 |
5
|
SIB Swiss Institute of Bioinformatics
|
0 |
4
|
1
|
0 |
0 |
0 |
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
King Laboratory, University of Washington
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics Laboratory, Department of Biology, Semnan University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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