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 |
|---|---|---|---|---|---|
| 8 | 2 | 8 | 7 | 7 | 31 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| SMARCA2 | 8 | 2 | 8 | 7 | 7 | 31 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 2 | 5 | 2 | 9 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 5 | 5 |
| Baylor Genetics | 1 | 0 | 2 | 0 | 0 | 3 |
| 3billion, Medical Genetics | 1 | 0 | 0 | 2 | 0 | 3 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 1 | 0 | 0 | 0 | 2 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 1 | 0 | 0 | 0 | 1 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 1 | 0 | 0 | 1 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 1 | 0 | 0 | 0 | 0 | 1 |
| Laboratory of Medical Genetics, University of Torino | 0 | 0 | 1 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 0 | 1 |
| Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University | 1 | 0 | 0 | 0 | 0 | 1 |