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 |
|---|---|---|---|---|---|
| 3 | 1 | 75 | 25 | 40 | 141 |
Condition and significance breakdown #
Total conditions: 7
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not provided | 2 | 1 | 8 | 22 | 40 | 70 |
| not specified | 0 | 0 | 67 | 0 | 0 | 67 |
| SMOC2-related disorder | 0 | 0 | 0 | 5 | 0 | 5 |
| Dentin dysplasia type I | 0 | 0 | 3 | 0 | 0 | 3 |
| DENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH | 2 | 0 | 0 | 0 | 0 | 2 |
| Schizophrenia | 0 | 0 | 1 | 0 | 0 | 1 |
| See cases | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Ambry Genetics | 0 | 0 | 67 | 0 | 0 | 67 |
| Labcorp Genetics (formerly Invitae), Labcorp | 1 | 0 | 5 | 20 | 19 | 45 |
| GeneDx | 0 | 1 | 2 | 0 | 23 | 26 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 0 | 5 | 0 | 5 |
| CeGaT Center for Human Genetics Tuebingen | 1 | 0 | 0 | 2 | 0 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet | 0 | 0 | 1 | 0 | 0 | 1 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 0 | 0 | 1 | 0 | 0 | 1 |
| ISCA site 1 | 0 | 0 | 0 | 1 | 0 | 1 |
| Department of Psychiatry, The University of Hong Kong | 0 | 0 | 1 | 0 | 0 | 1 |
| Stomatology Center, Xiangya Hospital, Central South University | 0 | 0 | 1 | 0 | 0 | 1 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 0 | 1 | 0 | 1 |