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 |
|---|---|---|---|---|---|
| 1 | 0 | 14 | 1 | 0 | 16 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|
| CTBP1 | 1 | 14 | 1 | 16 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|
| Revvity Omics, Revvity | 1 | 8 | 0 | 9 |
| Baylor Genetics | 0 | 2 | 0 | 2 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 2 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 1 |
| Illumina Laboratory Services, Illumina | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg | 1 | 0 | 0 | 1 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 1 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 0 | 1 |
| New York Genome Center | 1 | 0 | 0 | 1 |
| 3billion, Medical Genetics | 1 | 0 | 0 | 1 |