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 | 185 | 33 | 30 | 246 |
Condition and significance breakdown #
Total conditions: 6
| Condition | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| not specified | 179 | 6 | 0 | 185 |
| ARFGEF3-related disorder | 2 | 23 | 25 | 50 |
| not provided | 1 | 6 | 13 | 19 |
| Dystonic disorder | 1 | 0 | 0 | 1 |
| Febrile seizure (within the age range of 3 months to 6 years) | 1 | 0 | 0 | 1 |
| Neurodevelopmental disorder | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 7
| Submitter | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| Ambry Genetics | 179 | 6 | 0 | 185 |
| PreventionGenetics, part of Exact Sciences | 2 | 23 | 25 | 50 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 3 | 13 | 16 |
| CeGaT Center for Human Genetics Tuebingen | 1 | 3 | 0 | 4 |
| Institute of Human Genetics, University of Goettingen | 1 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 1 | 0 | 0 | 1 |