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 |
|---|---|---|---|---|---|
| 27 | 7 | 39 | 19 | 8 | 96 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| FGFR2 | 13 | 3 | 28 | 16 | 1 | 60 |
| POR | 13 | 4 | 10 | 3 | 7 | 35 |
| LOC126860075, POR | 1 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 11 | 4 | 33 | 16 | 1 | 65 |
| OMIM | 13 | 0 | 0 | 0 | 0 | 13 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 5 | 1 | 0 | 0 | 0 | 6 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 6 | 6 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 1 | 2 | 0 | 0 | 4 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 2 | 1 | 0 | 3 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 1 | 1 | 0 | 0 | 0 | 2 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 2 | 0 | 0 | 0 | 0 | 2 |
| Centogene AG - the Rare Disease Company | 0 | 0 | 1 | 0 | 0 | 1 |
| Intergen, Intergen Genetics and Rare Diseases Diagnosis Center | 0 | 0 | 0 | 1 | 0 | 1 |
| Mendelics | 0 | 0 | 0 | 0 | 1 | 1 |
| Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 0 | 0 | 1 | 0 | 0 | 1 |
| Klinisk genetik och genomik Research, Gothenburg University | 1 | 0 | 0 | 0 | 0 | 1 |
| 3billion | 0 | 0 | 0 | 1 | 0 | 1 |
| Pediatric Genetics Clinic, Sheba Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |