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 |
15
|
11
|
60
|
43
|
29
|
155
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
CUL4B
|
11
|
10
|
42
|
31
|
27
|
118
|
CUL4B, LOC113845788
|
3
|
1
|
18
|
12
|
2
|
36
|
AKAP14, ATP1B4, C1GALT1C1, CUL4B, DOCK11, IL13RA1, KIAA1210, LAMP2, LONRF3, MCTS1, NDUFA1, NKAP, NKRF, PGRMC1, RHOXF1, RHOXF2, RHOXF2B, RNF113A, RPL39, SEPTIN6, SLC25A43, SLC25A5, SOWAHD, STEEP1, TMEM255A, UBE2A, UPF3B, ZBTB33, ZCCHC12
|
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
3
|
0 |
37
|
41
|
29
|
110
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
Baylor Genetics
|
0 |
0 |
5
|
0 |
0 |
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
4
|
0 |
0 |
4
|
Revvity Omics, Revvity
|
0 |
0 |
3
|
0 |
0 |
3
|
3billion
|
1
|
0 |
2
|
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
2
|
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
2
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
1
|
0 |
2
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
2
|
0 |
0 |
2
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
1
|
1
|
0 |
0 |
0 |
2
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
1
|
0 |
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
1
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
1
|
1
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
1
|
0 |
0 |
1
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
1
|
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
1
|
Human Genetics Section, Sidra Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
1
|
0 |
0 |
0 |
0 |
1
|
Pediatric Genetics Clinic, Sheba Medical Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
Cell and Gene Engineering Laboratory, Zhejiang University
|
1
|
0 |
0 |
0 |
0 |
1
|
Eurofins-Biomnis
|
0 |
1
|
0 |
0 |
0 |
1
|
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University
|
1
|
0 |
0 |
0 |
0 |
1
|
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