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 |
|
40
|
23
|
126
|
60
|
68
|
264
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
13
|
2
|
35
|
30
|
17
|
97
|
|
GeneDx
|
3
|
1
|
16
|
10
|
43
|
73
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
38
|
21
|
30
|
62
|
|
Ambry Genetics
|
0 |
0 |
33
|
1
|
0 |
34
|
|
OMIM
|
27
|
0 |
0 |
0 |
0 |
27
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
1
|
3
|
22
|
26
|
|
PreventionGenetics, part of Exact Sciences
|
1
|
3
|
2
|
7
|
5
|
18
|
|
Athena Diagnostics
|
3
|
0 |
2
|
0 |
5
|
10
|
|
Fulgent Genetics, Fulgent Genetics
|
1
|
6
|
1
|
0 |
1
|
9
|
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
2
|
4
|
1
|
8
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
1
|
2
|
1
|
1
|
8
|
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
6
|
1
|
0 |
0 |
0 |
7
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
1
|
5
|
0 |
6
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
3
|
1
|
0 |
0 |
4
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
2
|
0 |
1
|
3
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
3
|
3
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
3
|
3
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
0 |
3
|
3
|
|
Revvity Omics, Revvity
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Medical Molecular Genetics Department, National Research Center
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Magee Womens Research Institute, University of Pittsburgh Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
1
|
0 |
0 |
1
|
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
1
|
|
3billion
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Pediatric Endocrinology Clinic, Ege University School of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Department for BioMedical Research, Inselspital, Bern University Hospital, University of Bern
|
0 |
0 |
1
|
0 |
0 |
1
|
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
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.