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 |
|---|---|---|---|---|---|
| 4 | 1 | 5 | 6 | 1 | 17 |
Condition and significance breakdown #
Total conditions: 9
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not provided | 0 | 0 | 1 | 5 | 1 | 7 |
| Spermatogenic failure 52 | 4 | 0 | 0 | 0 | 0 | 4 |
| not specified | 0 | 0 | 3 | 1 | 0 | 4 |
| Non-obstructive azoospermia | 3 | 0 | 0 | 0 | 0 | 3 |
| Azoospermia | 1 | 0 | 0 | 0 | 0 | 1 |
| C14orf39-related disorder | 0 | 0 | 0 | 1 | 0 | 1 |
| Inherited primary ovarian failure | 0 | 0 | 1 | 0 | 0 | 1 |
| Premature ovarian failure 18 | 1 | 0 | 0 | 0 | 0 | 1 |
| Spermatogenic failure 52; Premature ovarian failure 18 | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 5 | 1 | 6 |
| Ambry Genetics | 0 | 0 | 3 | 1 | 0 | 4 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Molecular and Cell Genetics Laboratory, University of Science and Technology of China | 3 | 0 | 0 | 0 | 0 | 3 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 0 | 1 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 0 | 1 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 0 | 0 | 0 | 0 | 1 |
| Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes | 1 | 0 | 0 | 0 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 0 | 1 | 0 | 0 | 1 |
| First Genomix Gene Laboratory, Genetic Diagnostics Department | 0 | 1 | 0 | 0 | 0 | 1 |