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 |
|
14
|
12
|
75
|
40
|
13
|
138
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
1
|
0 |
40
|
35
|
9
|
85
|
|
Ambry Genetics
|
1
|
0 |
31
|
0 |
0 |
32
|
|
GeneDx
|
1
|
4
|
9
|
0 |
7
|
21
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
2
|
1
|
9
|
3
|
15
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
3
|
2
|
9
|
14
|
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
11
|
|
Baylor Genetics
|
0 |
1
|
5
|
0 |
0 |
6
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
3
|
1
|
0 |
0 |
0 |
4
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
1
|
2
|
1
|
4
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
2
|
0 |
0 |
0 |
2
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
1
|
1
|
0 |
0 |
2
|
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Mendelics
|
0 |
2
|
0 |
0 |
0 |
2
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Undiagnosed Diseases Network, NIH
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
0 |
0 |
1
|
0 |
0 |
1
|
|
3billion
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Pediatric Department, Xiangya Hospital, Central South University
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
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.