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 |
51
|
112
|
170
|
56
|
49
|
1
|
415
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Fulgent Genetics, Fulgent Genetics
|
4
|
12
|
80
|
41
|
1
|
0 |
138
|
Baylor Genetics
|
14
|
94
|
22
|
0 |
0 |
0 |
130
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
75
|
11
|
33
|
0 |
119
|
Leiden Open Variation Database
|
32
|
0 |
4
|
0 |
0 |
0 |
36
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
8
|
28
|
0 |
36
|
Revvity Omics, Revvity
|
13
|
9
|
2
|
0 |
0 |
0 |
24
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
9
|
0 |
9
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
2
|
0 |
3
|
Mendelics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Human Genetics Section, Sidra Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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