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 | 29 | 393 | 22 | 0 | 449 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| FREM1 | 6 | 26 | 371 | 21 | 421 |
| FREM1, LOC126860582 | 2 | 3 | 21 | 1 | 27 |
| GLI2 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 1 | 27 | 387 | 20 | 435 |
| OMIM | 4 | 0 | 0 | 0 | 4 |
| Baylor Genetics | 0 | 0 | 3 | 0 | 3 |
| Institute of Human Genetics, University Hospital of Duesseldorf | 0 | 0 | 2 | 0 | 2 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 1 | 0 | 2 |
| 3billion, Medical Genetics | 0 | 0 | 0 | 2 | 2 |
| Department of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine | 2 | 0 | 0 | 0 | 2 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 0 | 0 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 0 | 0 | 1 | 0 | 1 |
| DASA | 0 | 1 | 0 | 0 | 1 |