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 |
|---|---|---|---|---|---|
| 2 | 1 | 13 | 6 | 0 | 19 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Inborn genetic diseases | 0 | 0 | 8 | 3 | 11 |
| not provided | 0 | 0 | 2 | 3 | 5 |
| not specified | 0 | 0 | 2 | 1 | 3 |
| Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 2 | 1 | 0 | 0 | 2 |
| Microcephaly | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Ambry Genetics | 0 | 0 | 8 | 3 | 11 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 0 | 3 | 3 |
| Genetic Services Laboratory, University of Chicago | 0 | 0 | 1 | 1 | 2 |
| GeneDx | 0 | 0 | 2 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 0 | 1 |
| Mendelics | 0 | 0 | 1 | 0 | 1 |
| Eurofins Ntd Llc (ga) | 0 | 0 | 1 | 0 | 1 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 1 | 1 |
| Department of Pediatrics, Samsung Medical Center, Samsung Medical Center | 0 | 0 | 1 | 0 | 1 |
| New York Genome Center | 0 | 1 | 0 | 0 | 1 |