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 |
|---|---|---|---|---|---|
| 5 | 6 | 3 | 0 | 0 | 14 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| PCYT2 | 5 | 5 | 3 | 13 |
| LOC130061984, PCYT2 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| OMIM | 5 | 0 | 0 | 5 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 0 | 2 | 2 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 1 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 1 | 0 | 0 | 1 |
| Hadassah Hebrew University Medical Center | 0 | 1 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 1 | 0 | 1 |
| Human Genetics Bochum, Ruhr University Bochum | 0 | 1 | 0 | 1 |
| Neurogenomics Lab, Neuroscience Institute, University Of Cape Town | 0 | 1 | 0 | 1 |
| Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) | 0 | 1 | 0 | 1 |
| Solve-RD Consortium | 0 | 1 | 0 | 1 |