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 |
|---|---|---|---|---|---|
| 6 | 5 | 12 | 2 | 0 | 25 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| AGO2 | 4 | 3 | 10 | 1 | 18 |
| AGO2, LOC126860545 | 2 | 1 | 1 | 0 | 4 |
| AGO2, LOC126860544 | 0 | 1 | 1 | 1 | 3 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| OMIM | 6 | 0 | 0 | 0 | 6 |
| 3billion | 1 | 0 | 1 | 1 | 3 |
| MVZ Medizinische Genetik Mainz | 0 | 0 | 3 | 0 | 3 |
| Revvity Omics, Revvity | 0 | 0 | 2 | 0 | 2 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 1 | 1 | 0 | 2 |
| Illumina Laboratory Services, Illumina | 0 | 1 | 1 | 0 | 2 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 1 | 0 | 2 |
| New York Genome Center | 0 | 0 | 2 | 0 | 2 |
| Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital | 0 | 0 | 0 | 1 | 1 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 1 | 0 | 0 | 1 |
| Bruce Lefroy Centre, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 1 | 0 | 0 | 1 |
| Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center | 0 | 0 | 1 | 0 | 1 |