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 |
28
|
46
|
204
|
30
|
34
|
322
|
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
|
1
|
0 |
159
|
15
|
24
|
199
|
Johns Hopkins Genomics, Johns Hopkins University
|
5
|
5
|
27
|
15
|
3
|
55
|
Fulgent Genetics, Fulgent Genetics
|
6
|
29
|
8
|
2
|
0 |
45
|
Revvity Omics, Revvity
|
2
|
2
|
10
|
0 |
0 |
14
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
5
|
8
|
0 |
0 |
0 |
13
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
6
|
0 |
0 |
6
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
6
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
4
|
0 |
0 |
5
|
Baylor Genetics
|
1
|
0 |
3
|
0 |
0 |
4
|
Mendelics
|
2
|
0 |
0 |
0 |
2
|
4
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
3
|
0 |
1
|
0 |
0 |
4
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
2
|
1
|
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
2
|
0 |
0 |
0 |
2
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
1
|
0 |
1
|
0 |
0 |
2
|
Clinical Genomics Laboratory, Stanford Medicine
|
1
|
0 |
1
|
0 |
0 |
2
|
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital
|
1
|
1
|
0 |
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
0 |
0 |
0 |
2
|
Department of Human Genetics, Hannover Medical School
|
0 |
1
|
1
|
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
1
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Medical University Innsbruck
|
0 |
1
|
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
1
|
Genoks Genetic Disorders Diagnostic Laboratory
|
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
0 |
0 |
0 |
0 |
1
|
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