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 | not provided | total |
|---|---|---|---|---|---|---|
| 4 | 3 | 4 | 4 | 2 | 1 | 18 |
Gene and significance breakdown #
Total genes and gene combinations: 11
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| ROBO2 | 0 | 0 | 2 | 3 | 2 | 0 | 7 |
| intergenic | 1 | 0 | 1 | 0 | 0 | 0 | 2 |
| AFAP1L2, VWA2 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| C12orf57 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| EBF3 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| KAT6B | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| LOC126806727, ROBO2 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MED13L | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| NIPBL | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| SOX17 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| TNXB | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 3 | 3 | 2 | 0 | 8 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 2 | 0 | 0 | 0 | 0 | 3 |
| Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital | 1 | 0 | 1 | 0 | 0 | 0 | 2 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| NIHR Bioresource Rare Diseases, University of Cambridge | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Yale Center for Mendelian Genomics, Yale University | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 1 | 1 |