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 |
11
|
19
|
84
|
65
|
29
|
197
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
4
|
1
|
30
|
38
|
11
|
84
|
GeneDx
|
1
|
2
|
28
|
14
|
19
|
64
|
Fulgent Genetics, Fulgent Genetics
|
0 |
3
|
15
|
8
|
0 |
26
|
Ambry Genetics
|
1
|
2
|
18
|
0 |
0 |
21
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
7
|
5
|
2
|
14
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
2
|
5
|
1
|
8
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
0 |
8
|
0 |
8
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
4
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
1
|
3
|
0 |
0 |
0 |
4
|
Baylor Genetics
|
0 |
2
|
0 |
0 |
0 |
2
|
Athena Diagnostics
|
0 |
0 |
0 |
0 |
2
|
2
|
Revvity Omics, Revvity
|
0 |
0 |
2
|
0 |
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
2
|
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
0 |
0 |
0 |
2
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
2
|
0 |
0 |
0 |
2
|
Autoinflammatory diseases unit, CHU de Montpellier
|
1
|
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
1
|
0 |
1
|
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 |
0 |
0 |
1
|
0 |
1
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
1
|
Genetics Department, University Hospital of Toulouse
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
1
|
Gharavi Laboratory, Columbia University
|
0 |
1
|
0 |
0 |
0 |
1
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
1
|
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center
|
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.