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 |
|---|---|---|---|---|---|
| 15 | 8 | 4 | 1 | 0 | 27 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| SCYL1 | 15 | 7 | 3 | 1 | 25 |
| LOC130006026, SCYL1 | 0 | 1 | 0 | 0 | 1 |
| TMEM240 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| OMIM | 9 | 0 | 0 | 0 | 9 |
| Baylor Genetics | 1 | 0 | 2 | 0 | 3 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 2 | 1 | 0 | 3 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 2 | 0 | 0 | 2 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 1 | 1 | 0 | 0 | 2 |
| 3billion, Medical Genetics | 1 | 1 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 1 | 0 | 0 | 0 | 1 |
| Centogene AG - the Rare Disease Company | 0 | 1 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 1 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 1 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 0 | 1 | 0 | 1 |