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 | not provided | total |
|---|---|---|---|---|---|---|
| 10 | 4 | 4 | 0 | 0 | 12 | 21 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| FGF3 | 7 | 3 | 2 | 8 | 14 |
| FGF3, LOC109115964 | 3 | 1 | 2 | 4 | 7 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| GeneReviews | 0 | 0 | 0 | 12 | 12 |
| OMIM | 9 | 0 | 0 | 0 | 9 |
| Revvity Omics, Revvity | 0 | 1 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 1 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 1 |
| Division of Human Genetics, Children's Hospital of Philadelphia | 1 | 0 | 0 | 0 | 1 |
| Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine | 1 | 0 | 0 | 0 | 1 |
| Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital | 0 | 1 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 1 |
| 3billion | 0 | 1 | 0 | 0 | 1 |
| Department of Otolaryngology, Eye & ENT Hospital of Fudan University | 0 | 0 | 1 | 0 | 1 |