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 |
22
|
10
|
52
|
8
|
7
|
95
|
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
|
1
|
40
|
8
|
1
|
51
|
Revvity Omics, Revvity Omics
|
5
|
3
|
2
|
0 |
0 |
10
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
9
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
5
|
2
|
0 |
0 |
0 |
7
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
7
|
7
|
Fulgent Genetics, Fulgent Genetics
|
3
|
0 |
2
|
0 |
0 |
5
|
MGZ Medical Genetics Center
|
0 |
2
|
1
|
0 |
0 |
3
|
Mendelics
|
3
|
0 |
0 |
0 |
0 |
3
|
3billion
|
2
|
0 |
1
|
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
0 |
1
|
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
1
|
0 |
0 |
2
|
Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University
|
2
|
0 |
0 |
0 |
0 |
2
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
2
|
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
1
|
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
1
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
0 |
0 |
0 |
0 |
1
|
Children’s Hospital, Clinical research laboratory, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden
|
1
|
0 |
0 |
0 |
0 |
1
|
Genetics Unit, Juan Ramón Jiménez Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
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