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 |
|---|---|---|---|---|---|---|
| 15 | 1 | 15 | 5 | 1 | 1 | 38 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| FGFR3 | 15 | 1 | 15 | 5 | 1 | 1 | 38 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 10 | 0 | 10 | 5 | 1 | 0 | 26 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 1 | 0 | 2 | 0 | 0 | 0 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Laboratory of Human Genetics, Universidade de São Paulo | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MVZ Medizinische Genetik Mainz | 0 | 0 | 1 | 0 | 0 | 0 | 1 |