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 | 51 | 19 | 12 | 79 |
Condition and significance breakdown #
Total conditions: 4
| Condition | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| Inborn genetic diseases | 48 | 1 | 0 | 49 |
| ATP13A4-related condition | 0 | 16 | 5 | 21 |
| not provided | 3 | 7 | 9 | 19 |
| Central core myopathy | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| Ambry Genetics | 48 | 1 | 0 | 49 |
| PreventionGenetics, part of Exact Sciences | 0 | 16 | 5 | 21 |
| Invitae | 0 | 6 | 7 | 13 |
| GeneDx | 1 | 0 | 1 | 2 |
| Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center | 0 | 0 | 1 | 1 |
| Revvity Omics, Revvity | 1 | 0 | 0 | 1 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 1 | 0 | 0 | 1 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 1 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 1 | 1 |