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 | 4 | 8 | 3 | 3 | 19 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| RBBP8 | 2 | 4 | 8 | 3 | 3 | 19 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 5 | 1 | 0 | 6 |
| Baylor Genetics | 1 | 0 | 2 | 0 | 0 | 3 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 3 | 3 |
| 3billion | 0 | 1 | 0 | 2 | 0 | 3 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 1 | 0 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 1 | 0 | 0 | 0 | 1 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 1 | 0 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 1 | 0 | 0 | 0 | 1 |