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 |
|
22
|
21
|
65
|
15
|
0 |
6
|
123
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
not provided |
total |
|
Fulgent Genetics, Fulgent Genetics
|
1
|
1
|
53
|
12
|
0 |
67
|
|
Molecular Diagnostics Lab, Nemours Children's Health, Delaware
|
5
|
2
|
0 |
0 |
0 |
7
|
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
6
|
6
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
3
|
0 |
0 |
5
|
|
3billion
|
1
|
2
|
1
|
0 |
0 |
4
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
3
|
1
|
0 |
4
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
1
|
1
|
0 |
0 |
3
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
1
|
0 |
0 |
3
|
|
Revvity Omics, Revvity
|
1
|
0 |
2
|
0 |
0 |
3
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
1
|
0 |
0 |
0 |
2
|
|
MGZ Medical Genetics Center
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
1
|
0 |
1
|
0 |
2
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Dr.Nikuei Genetic Center
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Duke University Health System Sequencing Clinic, Duke University Health System
|
0 |
1
|
0 |
0 |
0 |
1
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, Heidelberg University
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratorio De Medicina Genomica, Universidad Icesi
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
1
|
0 |
0 |
0 |
0 |
1
|
|
WangQJ Lab, Chinese People's Liberation Army General Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
1
|
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