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 | 38 | 5 | 7 | 49 |
Condition and significance breakdown #
Total conditions: 4
| Condition | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| not specified | 36 | 1 | 0 | 37 |
| not provided | 3 | 3 | 7 | 13 |
| Neurodevelopmental disorder | 1 | 0 | 0 | 1 |
| Seizure | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 7
| Submitter | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| Ambry Genetics | 36 | 1 | 0 | 37 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 7 | 7 |
| CeGaT Center for Human Genetics Tuebingen | 3 | 2 | 0 | 5 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 3 | 3 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 0 | 1 | 0 | 1 |
| Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes | 1 | 0 | 0 | 1 |
| Génétique des Maladies du Développement, Hospices Civils de Lyon | 0 | 1 | 0 | 1 |