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 |
|
38
|
40
|
113
|
18
|
29
|
223
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
80
|
16
|
26
|
124
|
|
Fulgent Genetics, Fulgent Genetics
|
5
|
14
|
10
|
1
|
0 |
30
|
|
Revvity Omics, Revvity
|
5
|
4
|
6
|
0 |
0 |
15
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
5
|
3
|
2
|
0 |
0 |
10
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
6
|
3
|
0 |
0 |
10
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
7
|
3
|
0 |
0 |
0 |
10
|
|
3billion
|
6
|
2
|
1
|
0 |
0 |
9
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
3
|
1
|
5
|
0 |
0 |
9
|
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
9
|
|
Baylor Genetics
|
2
|
0 |
3
|
0 |
0 |
5
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
4
|
0 |
0 |
0 |
5
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
1
|
4
|
0 |
0 |
0 |
5
|
|
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam
|
1
|
1
|
3
|
0 |
0 |
5
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
5
|
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Department of Human Genetics, Hannover Medical School
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Centre for Medical Genetics, Mumbai
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Department of Pediatric Gastroenterology, Mersin City Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Department of Pediatrics, 1st Faculty of Medicine, Charles University in Prague
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University
|
0 |
1
|
0 |
0 |
0 |
1
|
|
FirmaLab, FirmaLab
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genesis Genoma Lab, Genesis Genoma Lab
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
0 |
0 |
0 |
1
|
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
1
|
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