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 | risk factor | total |
|---|---|---|---|---|---|---|
| 0 | 0 | 18 | 18 | 9 | 1 | 42 |
Condition and significance breakdown #
Total conditions: 4
| Condition | uncertain significance | likely benign | benign | risk factor | total |
|---|---|---|---|---|---|
| not provided | 5 | 17 | 8 | 0 | 28 |
| not specified | 12 | 1 | 3 | 0 | 15 |
| Hypogonadotropic hypogonadism 9 with or without anosmia | 2 | 0 | 0 | 1 | 3 |
| NSMF-related disorder | 0 | 1 | 1 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | uncertain significance | likely benign | benign | risk factor | total |
|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 3 | 13 | 5 | 0 | 21 |
| GeneDx | 2 | 5 | 4 | 0 | 11 |
| Ambry Genetics | 11 | 0 | 0 | 0 | 11 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 1 | 5 | 0 | 6 |
| Genetic Services Laboratory, University of Chicago | 0 | 1 | 2 | 0 | 3 |
| PreventionGenetics, part of Exact Sciences | 0 | 1 | 1 | 0 | 2 |
| OMIM | 0 | 0 | 0 | 1 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 0 | 1 |
| Eurofins Ntd Llc (ga) | 0 | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 0 | 0 | 1 |
| Genetics Department, Polish Mother's Memorial Hospital Research Institute | 1 | 0 | 0 | 0 | 1 |