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 |
|---|---|---|---|---|---|
| 15 | 3 | 30 | 6 | 18 | 71 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| TRAPPC2 | 3 | 1 | 27 | 5 | 17 | 53 |
| OFD1, TRAPPC2 | 12 | 2 | 2 | 1 | 1 | 17 |
| LOC126863212, OFD1, TRAPPC2 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 29 | 6 | 18 | 53 |
| OMIM | 11 | 0 | 0 | 0 | 0 | 11 |
| Laboratory of Genetic Skeletal Anomaly, Seoul National University Children's Hospital | 2 | 0 | 0 | 0 | 0 | 2 |
| Knight Diagnostic Laboratories, Oregon Health and Sciences University | 0 | 1 | 0 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 1 | 0 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 0 | 1 | 0 | 0 | 0 | 1 |
| Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology | 1 | 0 | 0 | 0 | 0 | 1 |
| Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | 0 | 1 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 1 | 0 | 0 | 0 | 0 | 1 |