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 | not provided | total |
|---|---|---|---|---|---|---|
| 13 | 8 | 3 | 2 | 0 | 1 | 27 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|---|
| RBM10 | 12 | 8 | 2 | 2 | 1 | 25 |
| LOC126863252, RBM10 | 1 | 0 | 1 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|---|
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 4 | 1 | 0 | 2 | 0 | 7 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Baylor Genetics | 2 | 1 | 1 | 0 | 0 | 4 |
| Revvity Omics, Revvity | 1 | 0 | 2 | 0 | 0 | 3 |
| Genetic Services Laboratory, University of Chicago | 1 | 0 | 0 | 0 | 0 | 1 |
| Molecular Diagnostics Lab, Nemours Children's Health, Delaware | 1 | 0 | 0 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 1 | 0 | 0 | 0 | 1 |
| Knight Diagnostic Laboratories, Oregon Health and Sciences University | 0 | 1 | 0 | 0 | 0 | 1 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 0 | 0 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 0 | 0 | 0 | 1 |
| Laboratory of Medical Genetics, University of Torino | 0 | 1 | 0 | 0 | 0 | 1 |
| 3billion, Medical Genetics | 0 | 1 | 0 | 0 | 0 | 1 |
| GenomeConnect - Brain Gene Registry | 0 | 0 | 0 | 0 | 1 | 1 |