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 |
|---|---|---|---|---|---|
| 17 | 2 | 1 | 5 | 1 | 26 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not provided | 7 | 0 | 1 | 2 | 1 | 11 |
| not specified | 4 | 0 | 0 | 3 | 0 | 7 |
| See cases | 3 | 2 | 0 | 0 | 0 | 5 |
| Intellectual disability, autosomal dominant 1 | 2 | 0 | 0 | 0 | 0 | 2 |
| Microcephaly | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| GeneDx | 3 | 1 | 0 | 3 | 0 | 7 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 5 | 0 | 1 | 0 | 0 | 6 |
| ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories | 4 | 0 | 0 | 0 | 0 | 4 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 2 | 1 | 3 |
| Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Invitae | 1 | 0 | 0 | 0 | 0 | 1 |
| Illumina Laboratory Services, Illumina | 1 | 0 | 0 | 0 | 0 | 1 |
| ISCA site 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital | 1 | 0 | 0 | 0 | 0 | 1 |
| Department of Pediatrics, Samsung Medical Center, Samsung Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |