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 |
22
|
21
|
23
|
0 |
2
|
2
|
65
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
Ocular Genomics Institute, Massachusetts Eye and Ear
|
4
|
3
|
6
|
0 |
0 |
13
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
2
|
5
|
3
|
0 |
0 |
10
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
7
|
1
|
1
|
0 |
0 |
9
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
6
|
0 |
0 |
7
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
2
|
0 |
0 |
3
|
3billion
|
0 |
2
|
1
|
0 |
0 |
3
|
DBGen Ocular Genomics
|
1
|
2
|
0 |
0 |
0 |
3
|
Genomics England Pilot Project, Genomics England
|
2
|
1
|
0 |
0 |
0 |
3
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
0 |
2
|
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
1
|
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
2
|
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
2
|
0 |
2
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
0 |
1
|
0 |
0 |
1
|
Molecular Medicine, University of Pavia
|
0 |
0 |
1
|
0 |
0 |
1
|
Human Genetics, Hazara University Mansehra
|
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.