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 | 2 | 12 | 0 | 1 | 17 |
Condition and significance breakdown #
Total conditions: 7
| Condition | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| not provided | 2 | 0 | 8 | 1 | 11 |
| not specified | 0 | 0 | 3 | 0 | 3 |
| Hemimegalencephaly | 0 | 1 | 0 | 0 | 1 |
| Intellectual disability | 0 | 1 | 0 | 0 | 1 |
| Isolated focal cortical dysplasia type II | 1 | 0 | 0 | 0 | 1 |
| RHEB-related disorder | 0 | 0 | 0 | 1 | 1 |
| Seizure; Neurodevelopmental delay | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| GeneDx | 2 | 0 | 7 | 1 | 10 |
| Ambry Genetics | 0 | 0 | 3 | 0 | 3 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 0 | 1 | 1 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 1 | 0 | 1 |
| Clinical Genomics Laboratory, Washington University in St. Louis | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 1 |
| Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia | 0 | 1 | 0 | 0 | 1 |
| Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli | 0 | 1 | 0 | 0 | 1 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 0 | 1 | 1 |