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 |
|---|---|---|---|---|---|
| 2 | 2 | 6 | 0 | 0 | 10 |
Gene and significance breakdown #
Total genes and gene combinations: 9
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| CUL9 | 0 | 0 | 2 | 2 |
| BCR, GGTLC2, GNAZ, IGLC1, IGLL5, RAB36, RSPH14 | 1 | 0 | 0 | 1 |
| CTNNB1 | 0 | 1 | 0 | 1 |
| GABRG3 | 0 | 0 | 1 | 1 |
| MAP4K4 | 0 | 1 | 0 | 1 |
| MED12 | 1 | 0 | 0 | 1 |
| ROBO1 | 0 | 0 | 1 | 1 |
| SLC9A4 | 0 | 0 | 1 | 1 |
| TBXAS1 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 5
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Clinical Genetics Research Group, Karolinska Institutet | 1 | 0 | 3 | 4 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 0 | 0 | 2 | 2 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 1 | 0 | 2 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 1 |