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 |
|---|---|---|---|---|---|
| 5 | 2 | 5 | 0 | 0 | 11 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| FGF13 | 5 | 2 | 5 | 11 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| OMIM | 4 | 0 | 0 | 4 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 2 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 1 |
| Centre for Inherited Metabolic Diseases, Karolinska University Hospital | 1 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 1 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 0 | 1 | 1 |
| Dept of Pediatric nervous, The Second Affiliated Hospital Zhejiang University School of Medicine | 0 | 1 | 0 | 1 |