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 |
|---|---|---|---|---|---|
| 18 | 12 | 172 | 58 | 4 | 263 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| FGFR1 | 2 | 10 | 93 | 35 | 3 | 143 |
| FGFR2 | 16 | 2 | 79 | 23 | 1 | 120 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 11 | 9 | 165 | 58 | 4 | 246 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 7 | 0 | 0 | 7 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 2 | 2 | 0 | 0 | 0 | 4 |
| Baylor Genetics | 0 | 0 | 2 | 0 | 0 | 2 |
| Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia | 2 | 0 | 0 | 0 | 0 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 1 | 0 | 0 | 2 |
| Clinical Genomics Laboratory, Washington University in St. Louis | 0 | 0 | 1 | 0 | 0 | 1 |
| Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology | 0 | 1 | 0 | 0 | 0 | 1 |