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
|
9
|
11
|
4
|
9
|
43
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
8
|
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
8
|
|
3billion
|
1
|
0 |
4
|
0 |
0 |
5
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
2
|
3
|
0 |
0 |
5
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
2
|
2
|
0 |
0 |
0 |
4
|
|
Revvity Omics, Revvity
|
2
|
1
|
1
|
0 |
0 |
4
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
1
|
3
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
3
|
0 |
0 |
0 |
3
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
2
|
0 |
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
1
|
0 |
0 |
0 |
0 |
1
|
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
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. The submitted information has not been verified.
If you have questions about the information contained on this
website, please see a health care professional.