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 | 31 | 14 | 16 | 62 |
Condition and significance breakdown #
Total conditions: 8
| Condition | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| not specified | 0 | 25 | 1 | 0 | 26 |
| See cases | 0 | 4 | 3 | 9 | 16 |
| MACROD2-related disorder | 0 | 0 | 3 | 6 | 9 |
| not provided | 0 | 1 | 7 | 1 | 9 |
| Abnormal esophagus morphology | 0 | 0 | 0 | 1 | 1 |
| Autism | 1 | 0 | 0 | 0 | 1 |
| Autism spectrum disorder | 0 | 1 | 0 | 0 | 1 |
| Schizophrenia | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Ambry Genetics | 0 | 25 | 1 | 0 | 26 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 3 | 6 | 9 |
| ISCA Site 6 | 0 | 0 | 1 | 8 | 9 |
| ISCA site 1 | 0 | 4 | 2 | 0 | 6 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 0 | 0 | 3 | 0 | 3 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 3 | 0 | 3 |
| GeneDx | 0 | 0 | 1 | 1 | 2 |
| Department of Psychiatry, Nagoya University | 2 | 0 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 0 | 1 | 0 | 0 | 1 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 0 | 1 | 1 |
| Clinical Genetics, Erasmus University Medical Center | 0 | 0 | 0 | 1 | 1 |
| Geschwind lab, University of California Los Angeles | 0 | 1 | 0 | 0 | 1 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 0 | 1 | 1 |