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 | 3 | 8 | 0 | 5 | 30 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| NNT | 15 | 3 | 8 | 5 | 30 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 9 | 0 | 0 | 0 | 9 |
| Baylor Genetics | 0 | 0 | 4 | 0 | 4 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 0 | 2 | 3 |
| Genome-Nilou Lab | 0 | 0 | 0 | 3 | 3 |
| 3billion, Medical Genetics | 2 | 0 | 1 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 2 | 0 | 2 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 2 | 0 | 0 | 0 | 2 |
| Hadassah Hebrew University Medical Center | 0 | 1 | 0 | 0 | 1 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 1 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 1 |
| Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University | 1 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 1 |