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 |
85
|
32
|
238
|
570
|
102
|
930
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
68
|
16
|
70
|
500
|
33
|
687
|
GeneDx
|
7
|
3
|
23
|
53
|
70
|
156
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
71
|
9
|
31
|
111
|
Natera, Inc.
|
5
|
0 |
27
|
21
|
9
|
62
|
Genetic Services Laboratory, University of Chicago
|
10
|
3
|
19
|
10
|
8
|
50
|
Ambry Genetics
|
1
|
1
|
34
|
5
|
0 |
41
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
0 |
22
|
17
|
39
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
24
|
3
|
3
|
30
|
Athena Diagnostics Inc
|
0 |
0 |
11
|
5
|
7
|
23
|
OMIM
|
14
|
0 |
0 |
0 |
0 |
14
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
0 |
5
|
8
|
0 |
14
|
Genome-Nilou Lab
|
0 |
0 |
2
|
0 |
11
|
13
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
3
|
3
|
0 |
0 |
8
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
1
|
5
|
0 |
0 |
6
|
Fulgent Genetics, Fulgent Genetics
|
1
|
1
|
3
|
0 |
1
|
6
|
Revvity Omics, Revvity
|
2
|
1
|
1
|
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
2
|
1
|
0 |
0 |
4
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
0 |
4
|
4
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
3
|
0 |
0 |
4
|
3billion
|
2
|
0 |
2
|
0 |
0 |
4
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
3
|
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
2
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
1
|
1
|
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
2
|
0 |
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
1
|
1
|
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
Courtagen Diagnostics Laboratory, Courtagen Life Sciences
|
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostic Laboratory, Strasbourg University Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS)
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
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.