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 |
|---|---|---|---|---|---|
| 0 | 0 | 9 | 42 | 45 | 95 |
Condition and significance breakdown #
Total conditions: 5
| Condition | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| HIVEP3-related disorder | 6 | 36 | 43 | 85 |
| not provided | 1 | 9 | 13 | 23 |
| not specified | 0 | 0 | 9 | 9 |
| Neurodevelopmental disorder | 1 | 0 | 0 | 1 |
| See cases | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| PreventionGenetics, part of Exact Sciences | 6 | 36 | 43 | 85 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 13 | 13 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 0 | 0 | 8 | 8 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 8 | 0 | 8 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 1 | 5 | 6 |
| Mendelics | 0 | 0 | 1 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 0 | 1 |
| Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare | 1 | 0 | 0 | 1 |
| New York Genome Center | 1 | 0 | 0 | 1 |