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 | 2 | 132 | 18 | 71 | 223 |
Condition and significance breakdown #
Total conditions: 5
| Condition | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| not specified | 0 | 125 | 7 | 0 | 132 |
| not provided | 1 | 8 | 11 | 71 | 91 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 0 | 1 | 0 | 0 | 1 |
| Hemiparesis; Focal epilepsy; Hydrocephalus | 1 | 0 | 0 | 0 | 1 |
| Inborn genetic diseases | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Ambry Genetics | 0 | 124 | 6 | 0 | 130 |
| GeneDx | 1 | 4 | 0 | 54 | 59 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 4 | 38 | 42 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 1 | 9 | 18 | 28 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 2 | 2 | 4 |
| New York Genome Center | 0 | 3 | 0 | 0 | 3 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 1 | 1 | 0 | 2 |
| Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia | 0 | 1 | 0 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 0 | 0 | 0 | 1 |
| Rare Disease Group, Clinical Genetics, Karolinska Institutet | 0 | 1 | 0 | 0 | 1 |