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 |
|---|---|---|---|---|---|
| 12 | 11 | 2 | 1 | 0 | 24 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| CLASP1, RNU4ATAC | 12 | 10 | 2 | 1 | 23 |
| RNU4ATAC | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| OMIM | 9 | 0 | 0 | 0 | 9 |
| Fulgent Genetics, Fulgent Genetics | 4 | 2 | 1 | 1 | 8 |
| Service de Génétique Moléculaire, Hôpital Robert Debré | 3 | 4 | 0 | 0 | 7 |
| Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS | 0 | 3 | 0 | 0 | 3 |
| Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences | 2 | 0 | 0 | 0 | 2 |
| Undiagnosed Diseases Network, NIH | 0 | 1 | 1 | 0 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 1 | 0 | 0 | 1 |
| Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota | 0 | 1 | 0 | 0 | 1 |