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 |
6
|
7
|
233
|
31
|
96
|
370
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
224
|
30
|
89
|
342
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
18
|
18
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
10
|
1
|
0 |
11
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
10
|
10
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute
|
1
|
4
|
0 |
0 |
0 |
5
|
3billion
|
1
|
0 |
2
|
0 |
0 |
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
1
|
0 |
0 |
0 |
3
|
Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University
|
0 |
2
|
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
0 |
1
|
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
1
|
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