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 |
30
|
24
|
163
|
41
|
16
|
2
|
267
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
DSP
|
30
|
24
|
163
|
41
|
16
|
1
|
266
|
TUBB3
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
116
|
39
|
15
|
0 |
170
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
8
|
1
|
13
|
2
|
0 |
0 |
24
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
4
|
2
|
7
|
0 |
0 |
0 |
13
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
0 |
5
|
2
|
0 |
0 |
10
|
Labcorp Genetics (formerly Invitae), Labcorp
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
New York Genome Center
|
1
|
1
|
5
|
0 |
0 |
0 |
7
|
deCODE genetics, Amgen
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
KardioGenetik, Herz- und Diabeteszentrum NRW
|
0 |
3
|
2
|
0 |
0 |
0 |
5
|
OMIM
|
3
|
0 |
1
|
0 |
0 |
0 |
4
|
Baylor Genetics
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Clinical Genomics Laboratory, Stanford Medicine
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
MGZ Medical Genetics Center
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Phosphorus, Inc.
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.