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 |
5
|
3
|
31
|
19
|
18
|
8
|
57
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
2
|
0 |
10
|
8
|
11
|
0 |
31
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
14
|
15
|
10
|
0 |
27
|
GeneDx
|
1
|
0 |
1
|
3
|
9
|
0 |
14
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
1
|
4
|
4
|
0 |
9
|
Retina International
|
0 |
0 |
0 |
0 |
0 |
8
|
8
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
0 |
3
|
3
|
0 |
7
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
1
|
0 |
5
|
0 |
6
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
0 |
1
|
2
|
1
|
0 |
6
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
1
|
1
|
0 |
3
|
0 |
5
|
Dept Of Ophthalmology, Nagoya University
|
1
|
0 |
0 |
0 |
4
|
0 |
5
|
Ambry Genetics
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
2
|
0 |
3
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Mendelics
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Revvity Omics, Revvity
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Molecular Genetics, University of Zurich
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Blueprint Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
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.