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 | 6 | 5 | 1 | 1 | 18 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| RPS6KA3 | 5 | 6 | 5 | 1 | 1 | 18 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Centogene AG - the Rare Disease Company | 0 | 1 | 1 | 0 | 0 | 2 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 2 | 0 | 0 | 2 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 2 | 0 | 0 | 0 | 2 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 1 | 0 | 1 | 0 | 0 | 2 |
| Genetic Services Laboratory, University of Chicago | 1 | 0 | 0 | 0 | 0 | 1 |
| Mendelics | 1 | 0 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 1 | 0 | 0 | 0 | 1 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 0 | 1 | 0 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 0 | 0 | 0 | 1 | 0 | 1 |
| Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 0 | 0 | 0 | 1 |