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 |
139
|
51
|
162
|
411
|
38
|
3
|
746
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
85
|
23
|
133
|
401
|
35
|
0 |
677
|
Natera, Inc.
|
10
|
6
|
22
|
22
|
9
|
0 |
69
|
University Children's Hospital, University of Zurich
|
48
|
0 |
0 |
0 |
0 |
0 |
48
|
Revvity Omics, Revvity
|
3
|
5
|
10
|
0 |
0 |
0 |
18
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
Genome-Nilou Lab
|
0 |
1
|
0 |
1
|
7
|
0 |
9
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
5
|
0 |
1
|
0 |
0 |
0 |
6
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
3billion
|
1
|
3
|
1
|
0 |
0 |
0 |
5
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
2
|
0 |
0 |
0 |
4
|
Baylor Genetics
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Inserm U 954, Faculté de Médecine de Nancy
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
2
|
0 |
0 |
1
|
0 |
3
|
MGZ Medical Genetics Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Elsea Laboratory, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neurology Department, Peking University First Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SingHealth Duke-NUS Institute of Precision Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Myriad Genetics, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Pars Genome Lab
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Newborn Screening Center, Zibo Maternal and Child Health Care Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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