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 |
16
|
9
|
107
|
10
|
18
|
1
|
159
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
103
|
10
|
12
|
0 |
125
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
13
|
0 |
13
|
UW Hindbrain Malformation Research Program, University of Washington
|
11
|
0 |
0 |
0 |
0 |
0 |
11
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
3
|
2
|
0 |
0 |
0 |
5
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
2
|
0 |
0 |
1
|
0 |
3
|
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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