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 |
|---|---|---|---|---|---|
| 3 | 4 | 18 | 18 | 3 | 46 |
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| SMC1A | 1 | 0 | 2 | 10 | 1 | 14 |
| NIPBL | 1 | 0 | 7 | 5 | 0 | 13 |
| SMC3 | 0 | 3 | 3 | 3 | 2 | 11 |
| BRD4 | 1 | 0 | 6 | 0 | 0 | 7 |
| RAD21 | 0 | 1 | 0 | 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 | 1 | 12 | 17 | 3 | 33 |
| Center of Genomic medicine, Geneva, University Hospital of Geneva | 1 | 2 | 0 | 0 | 0 | 3 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 2 | 0 | 0 | 2 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 0 | 2 | 0 | 0 | 2 |
| Institute of Human Genetics, University of Goettingen | 0 | 0 | 0 | 1 | 0 | 1 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| Mendelics | 1 | 0 | 0 | 0 | 0 | 1 |
| Department of Medical Genetics, National Institute of Health | 1 | 0 | 0 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 0 | 0 | 1 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 0 | 0 | 1 | 0 | 0 | 1 |