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 |
|---|---|---|---|---|---|
| 15 | 8 | 10 | 11 | 3 | 44 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| FAN1 | 7 | 4 | 7 | 3 | 1 | 22 |
| FAN1, MTMR10 | 8 | 4 | 3 | 8 | 2 | 22 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 5 | 4 | 3 | 11 | 0 | 23 |
| OMIM | 8 | 0 | 0 | 0 | 0 | 8 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 3 | 1 | 2 | 0 | 0 | 6 |
| Revvity Omics, Revvity | 1 | 1 | 3 | 0 | 0 | 5 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 3 | 3 |
| Center of Genomic medicine, Geneva, University Hospital of Geneva | 2 | 0 | 0 | 0 | 0 | 2 |
| Yale Center for Mendelian Genomics, Yale University | 0 | 2 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Center for Precision Medicine, Vanderbilt University Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
| UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini | 1 | 0 | 0 | 0 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 1 | 0 | 0 | 0 | 0 | 1 |