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 |
|---|---|---|---|---|---|
| 2 | 3 | 21 | 8 | 7 | 38 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Inborn genetic diseases | 0 | 0 | 20 | 2 | 0 | 22 |
| not provided | 2 | 1 | 1 | 4 | 6 | 13 |
| YY1AP1-related disorder | 0 | 0 | 0 | 4 | 1 | 5 |
| Grange syndrome | 0 | 2 | 1 | 0 | 0 | 3 |
| not specified | 0 | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Ambry Genetics | 0 | 0 | 20 | 2 | 0 | 22 |
| Labcorp Genetics (formerly Invitae), Labcorp | 2 | 0 | 0 | 3 | 6 | 11 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 1 | 0 | 5 | 6 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 0 | 4 | 1 | 5 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 0 | 0 | 0 | 0 | 1 | 1 |
| GeneDx | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 1 | 0 | 0 | 0 | 1 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 1 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 0 | 0 | 0 | 1 |