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 |
|---|---|---|---|---|---|
| 0 | 1 | 70 | 21 | 52 | 144 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| RIMS1 | 1 | 68 | 21 | 51 | 141 |
| LOC129996707, RIMS1 | 0 | 1 | 0 | 1 | 2 |
| LOC129996708, RIMS1 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 60 | 21 | 52 | 133 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 4 | 0 | 0 | 4 |
| Genome-Nilou Lab | 0 | 0 | 0 | 3 | 3 |
| Baylor Genetics | 0 | 2 | 0 | 0 | 2 |
| OMIM | 0 | 1 | 0 | 0 | 1 |
| Mendelics | 0 | 1 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 1 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 0 | 0 | 1 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 0 | 0 | 1 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 1 | 0 | 0 | 0 | 1 |