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 | 1 | 108 | 9 | 8 | 126 |
Condition and significance breakdown #
Total conditions: 4
| Condition | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| not specified | 0 | 107 | 5 | 0 | 112 |
| not provided | 0 | 0 | 4 | 8 | 12 |
| Cerebral visual impairment and intellectual disability | 1 | 0 | 0 | 0 | 1 |
| Teratoma | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 6
| Submitter | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Ambry Genetics | 0 | 107 | 5 | 0 | 112 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 1 | 8 | 9 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 0 | 5 | 5 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 3 | 0 | 3 |
| Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 1 | 0 | 0 | 0 | 1 |
| Molecular ImmunoRheumatology UMRS_1109, Institut national de la santé et de la recherche médicale | 0 | 1 | 0 | 0 | 1 |