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 |
|---|---|---|---|---|---|
| 10 | 3 | 4 | 1 | 9 | 26 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| SCARF2 | 10 | 3 | 4 | 1 | 9 | 26 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| OMIM | 7 | 0 | 0 | 0 | 0 | 7 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 6 | 6 |
| Baylor Genetics | 0 | 0 | 3 | 0 | 0 | 3 |
| University of Washington Center for Mendelian Genomics, University of Washington | 3 | 0 | 0 | 0 | 0 | 3 |
| Genome Diagnostics Laboratory, Amsterdam University Medical Center | 0 | 0 | 0 | 0 | 3 | 3 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 0 | 0 | 0 | 0 | 2 | 2 |
| Revvity Omics, Revvity | 1 | 0 | 0 | 0 | 0 | 1 |
| Genome Diagnostics Laboratory, University Medical Center Utrecht | 0 | 0 | 0 | 1 | 0 | 1 |
| Mendelics | 0 | 1 | 0 | 0 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 0 | 1 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 0 | 1 |
| 3billion | 1 | 0 | 0 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 0 | 1 | 0 | 0 | 1 |