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 |
34
|
17
|
815
|
414
|
101
|
7
|
1285
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
25
|
4
|
680
|
372
|
77
|
0 |
1158
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
127
|
23
|
30
|
0 |
180
|
Ambry Genetics
|
0 |
0 |
88
|
11
|
0 |
0 |
99
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
0 |
30
|
5
|
0 |
36
|
GeneDx
|
1
|
2
|
7
|
1
|
22
|
0 |
33
|
Eurofins Ntd Llc (ga)
|
4
|
0 |
17
|
5
|
5
|
0 |
31
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
1
|
0 |
12
|
1
|
0 |
14
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
2
|
9
|
0 |
12
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
9
|
2
|
0 |
12
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Blueprint Genetics
|
1
|
1
|
4
|
0 |
0 |
0 |
6
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
3
|
2
|
0 |
0 |
5
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
UniProtKB/Swiss-Prot
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Revvity Omics, Revvity
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
3billion
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
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.