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 | risk factor | total |
|---|---|---|---|---|---|---|
| 3 | 2 | 16 | 3 | 3 | 2 | 28 |
Gene and significance breakdown #
Total genes and gene combinations: 6
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | risk factor | total |
|---|---|---|---|---|---|---|---|
| KDR | 1 | 0 | 9 | 2 | 2 | 1 | 14 |
| FLT4 | 1 | 1 | 5 | 0 | 0 | 0 | 7 |
| ANTXR1 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| FAT4 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| CCNH, RASA1 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| MYH9 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | risk factor | total |
|---|---|---|---|---|---|---|---|
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 8 | 1 | 1 | 0 | 10 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 2 | 4 |
| Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital | 1 | 0 | 2 | 0 | 0 | 0 | 3 |
| KCCC/NGS Laboratory, Kuwait Cancer Control Center | 0 | 0 | 0 | 2 | 1 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Clinical Genomics Laboratory, Washington University in St. Louis | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Kahle Lab, Yale University | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Molecular Genetics Lab, CHRU Brest | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 0 | 0 | 1 | 0 | 0 | 0 | 1 |