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 |
46
|
32
|
301
|
247
|
47
|
583
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
29
|
9
|
205
|
229
|
25
|
497
|
Fulgent Genetics, Fulgent Genetics
|
5
|
3
|
47
|
23
|
1
|
79
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
38
|
4
|
12
|
55
|
GeneDx
|
2
|
1
|
13
|
1
|
28
|
45
|
Dept Of Ophthalmology, Nagoya University
|
0 |
0 |
22
|
4
|
4
|
30
|
Ambry Genetics
|
0 |
0 |
24
|
4
|
0 |
28
|
PreventionGenetics, part of Exact Sciences
|
4
|
3
|
6
|
8
|
1
|
22
|
Blueprint Genetics
|
1
|
6
|
7
|
0 |
0 |
14
|
CeGaT Center for Human Genetics Tuebingen
|
3
|
2
|
2
|
5
|
1
|
13
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
2
|
7
|
0 |
0 |
10
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
3
|
2
|
1
|
6
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
1
|
3
|
5
|
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University
|
5
|
0 |
0 |
0 |
0 |
5
|
DBGen Ocular Genomics
|
1
|
0 |
4
|
0 |
0 |
5
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
4
|
0 |
0 |
0 |
4
|
Dan Cohn Lab, University Of California Los Angeles
|
4
|
0 |
0 |
0 |
0 |
4
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
4
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
1
|
2
|
0 |
3
|
Revvity Omics, Revvity
|
2
|
1
|
0 |
0 |
0 |
3
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
1
|
0 |
2
|
0 |
0 |
3
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
2
|
1
|
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
2
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
2
|
0 |
0 |
2
|
3billion
|
1
|
1
|
0 |
0 |
0 |
2
|
Genomics England Pilot Project, Genomics England
|
2
|
0 |
0 |
0 |
0 |
2
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
1
|
1
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
1
|
0 |
1
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
1
|
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
1
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
0 |
1
|
0 |
0 |
0 |
1
|
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
1
|
0 |
0 |
0 |
0 |
1
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
1
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research
|
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Biology Laboratory, Fundació Puigvert
|
1
|
0 |
0 |
0 |
0 |
1
|
Sydney Genome Diagnostics, Children's Hospital Westmead
|
1
|
0 |
0 |
0 |
0 |
1
|
Eurofins-Biomnis
|
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.