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 | 17 | 20 | 85 |
Condition and significance breakdown #
Total conditions: 4
| Condition | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| not specified | 47 | 3 | 0 | 50 |
| not provided | 2 | 11 | 20 | 32 |
| Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome | 5 | 1 | 4 | 10 |
| CCDC174-related disorder | 0 | 5 | 1 | 6 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| Ambry Genetics | 47 | 3 | 0 | 50 |
| Breakthrough Genomics, Breakthrough Genomics | 2 | 2 | 12 | 16 |
| GeneDx | 0 | 0 | 15 | 15 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 9 | 6 | 15 |
| PreventionGenetics, part of Exact Sciences | 0 | 5 | 1 | 6 |
| Baylor Genetics | 4 | 0 | 0 | 4 |
| Genome-Nilou Lab | 0 | 0 | 4 | 4 |
| Revvity Omics, Revvity | 1 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 0 | 1 |
| Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | 0 | 1 | 0 | 1 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 1 | 0 | 1 |