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 |
|---|---|---|---|---|---|---|
| 3 | 0 | 22 | 3 | 1 | 1 | 30 |
Gene and significance breakdown #
Total genes and gene combinations: 9
| Gene or gene combination | pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| CHD7 | 0 | 20 | 1 | 1 | 0 | 22 |
| CHD7, LOC126860403 | 0 | 0 | 1 | 0 | 0 | 1 |
| FGFR1, LOC102723716 | 0 | 0 | 1 | 0 | 0 | 1 |
| FGFR1, LOC130000230, LOC130000231, LOC130000232, LOC130000233 | 1 | 0 | 0 | 0 | 0 | 1 |
| PNPLA6 | 1 | 0 | 0 | 0 | 0 | 1 |
| POLR2F, SOX10 | 0 | 0 | 0 | 0 | 1 | 1 |
| PROKR2 | 1 | 0 | 0 | 0 | 0 | 1 |
| SRA1 | 0 | 1 | 0 | 0 | 0 | 1 |
| TCF12 | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 7
| Submitter | pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 20 | 3 | 1 | 0 | 24 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 1 | 0 | 0 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 1 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 1 | 1 |
| Rare Disease Group, Clinical Genetics, Karolinska Institutet | 1 | 0 | 0 | 0 | 0 | 1 |
| Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital | 1 | 0 | 0 | 0 | 0 | 1 |
| Genetics Department, Polish Mother's Memorial Hospital Research Institute | 0 | 1 | 0 | 0 | 0 | 1 |