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 |
protective |
risk factor |
not provided |
total |
18
|
22
|
99
|
19
|
11
|
2
|
11
|
1
|
166
|
Gene and significance breakdown #
Total genes and gene combinations: 33
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
protective |
risk factor |
not provided |
total |
Illumina Laboratory Services, Illumina
|
2
|
1
|
67
|
10
|
9
|
0 |
0 |
0 |
89
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
10
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
14
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
8
|
5
|
0 |
0 |
0 |
0 |
13
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
2
|
6
|
5
|
0 |
0 |
0 |
0 |
0 |
13
|
Dash Lab, University Health Network
|
0 |
7
|
2
|
0 |
2
|
0 |
0 |
0 |
11
|
OMIM
|
1
|
0 |
1
|
0 |
0 |
0 |
8
|
0 |
10
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
2
|
2
|
2
|
0 |
0 |
0 |
1
|
10
|
New York Genome Center
|
0 |
1
|
3
|
0 |
0 |
0 |
0 |
0 |
4
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Department of Endocrinology, The Second Hospital of Jilin University
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Department of Paediatrics, National University Hospital
|
0 |
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Mendelics
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
UCL Genetics Institute, UCL
|
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Endocrinology Laboratory, Christian Medical College
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Medical Research Institute, Tokyo Medical and Dental University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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