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 |
|---|---|---|---|---|---|
| 18 | 3 | 9 | 9 | 5 | 44 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| RAD21 | 18 | 3 | 8 | 9 | 5 | 43 |
| TRPS1 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 16
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Invitae | 3 | 0 | 3 | 7 | 5 | 18 |
| Genetic Services Laboratory,University of Chicago | 4 | 0 | 2 | 0 | 0 | 6 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Baylor Genetics | 2 | 0 | 0 | 0 | 0 | 2 |
| Mendelics | 1 | 0 | 0 | 1 | 0 | 2 |
| GeneReviews | 2 | 0 | 0 | 0 | 0 | 2 |
| Institute of Human Genetics,Klinikum rechts der Isar | 1 | 1 | 0 | 0 | 0 | 2 |
| Geisinger Autism and Developmental Medicine Institute,Geisinger Health System | 0 | 0 | 2 | 0 | 0 | 2 |
| Genome Diagnostics Laboratory,University Medical Center Utrecht | 0 | 0 | 0 | 1 | 0 | 1 |
| Illumina Clinical Services Laboratory,Illumina | 0 | 0 | 1 | 0 | 0 | 1 |
| UCLA Clinical Genomics Center, UCLA | 0 | 1 | 0 | 0 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
| DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center | 0 | 0 | 0 | 1 | 0 | 1 |
| Bondeson Group,Uppsala University | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Medicine Lab, University of California San Francisco | 1 | 0 | 0 | 0 | 0 | 1 |