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 | 2 | 135 | 10 | 54 | 207 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| STX16, STX16-NPEPL1 | 2 | 0 | 123 | 9 | 53 | 183 |
| GNAS | 8 | 2 | 11 | 1 | 1 | 22 |
| GHSR | 0 | 0 | 1 | 0 | 0 | 1 |
| STX16 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 1 | 0 | 63 | 2 | 53 | 119 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 59 | 7 | 0 | 66 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 2 | 4 | 0 | 0 | 7 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 3 | 0 | 3 | 1 | 0 | 7 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 2 | 0 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 2 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Clinical Genomics Laboratory, Washington University in St. Louis | 0 | 0 | 1 | 0 | 0 | 1 |
| Undiagnosed Diseases Network, NIH | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Johns Hopkins Genomics, Johns Hopkins University | 0 | 0 | 1 | 0 | 0 | 1 |
| 3billion | 0 | 0 | 1 | 0 | 0 | 1 |
| Department of Neurology, The First Affiliated Hospital of Guangdong Pharmaceutical University | 0 | 0 | 1 | 0 | 0 | 1 |