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 |
|---|---|---|---|---|---|
| 16 | 58 | 46 | 5 | 4 | 121 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| BCS1L | 16 | 58 | 44 | 5 | 4 | 119 |
| BCS1L, LOC129935609 | 0 | 0 | 2 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 5 | 31 | 44 | 5 | 0 | 85 |
| Baylor Genetics | 15 | 43 | 0 | 0 | 0 | 58 |
| Genome-Nilou Lab | 0 | 0 | 1 | 0 | 4 | 5 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 3 | 0 | 0 | 0 | 4 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 2 | 0 | 0 | 0 | 0 | 2 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 2 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 0 | 0 | 1 |
| First Genomix Gene Laboratory, Genetic Diagnostics Department | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Rare Diseases, West China Hospital, Sichuan University | 0 | 1 | 0 | 0 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 1 | 0 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 0 | 1 |