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 |
|---|---|---|---|---|---|
| 10 | 6 | 11 | 1 | 0 | 27 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| OCLN | 10 | 6 | 11 | 1 | 27 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Revvity Omics, Revvity | 2 | 1 | 4 | 0 | 7 |
| Genetic Services Laboratory, University of Chicago | 3 | 0 | 3 | 0 | 6 |
| OMIM | 4 | 0 | 0 | 0 | 4 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 2 | 0 | 3 |
| Baylor Genetics | 1 | 1 | 0 | 0 | 2 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 1 | 0 | 1 | 0 | 2 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 1 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 0 | 1 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 0 | 0 | 1 |
| Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS | 0 | 1 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 1 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 1 |
| Lifecell International Pvt. Ltd | 0 | 1 | 0 | 0 | 1 |
| 3billion | 1 | 0 | 0 | 0 | 1 |