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 |
|---|---|---|---|---|---|
| 7 | 1 | 43 | 43 | 6 | 96 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not provided | 6 | 0 | 26 | 43 | 5 | 78 |
| not specified | 0 | 0 | 17 | 0 | 0 | 17 |
| Seckel syndrome 10 | 2 | 1 | 3 | 0 | 0 | 6 |
| NSMCE2-related disorder | 0 | 0 | 0 | 1 | 4 | 5 |
| Global developmental delay; Short stature; Dysmorphic features; Microcephaly; Decreased response to growth hormone stimulation test | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 5 | 0 | 26 | 39 | 5 | 75 |
| Ambry Genetics | 0 | 0 | 17 | 0 | 0 | 17 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 0 | 1 | 4 | 5 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 4 | 0 | 4 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 2 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 0 | 1 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| GeneDx | 0 | 0 | 1 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 0 | 1 |
| Bionano Laboratories | 1 | 0 | 0 | 0 | 0 | 1 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 0 | 0 | 0 | 1 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 1 | 0 | 0 | 0 | 0 | 1 |