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 |
|---|---|---|---|---|---|
| 5 | 2 | 31 | 12 | 18 | 66 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| RPS24 | 4 | 2 | 25 | 8 | 12 | 49 |
| LOC130004144, RPS24 | 1 | 0 | 6 | 4 | 4 | 15 |
| LOC130004144, POLR3A, RPS24 | 0 | 0 | 0 | 0 | 2 | 2 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 16 | 5 | 2 | 23 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 4 | 5 | 12 | 21 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 0 | 1 | 6 | 7 |
| Baylor Genetics | 0 | 0 | 6 | 0 | 0 | 6 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Revvity Omics, Revvity | 0 | 0 | 2 | 0 | 0 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 1 | 0 | 0 | 2 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 0 | 0 | 1 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 0 | 1 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 0 | 1 | 0 | 0 | 0 | 1 |
| St. Jude Molecular Pathology, St. Jude Children's Research Hospital | 0 | 0 | 1 | 0 | 0 | 1 |
| University of Washington Department of Laboratory Medicine, University of Washington | 1 | 0 | 0 | 0 | 0 | 1 |
| UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini | 0 | 0 | 0 | 1 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |