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 | 1 | 2 | 0 | 2 | 10 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| UBE2T | 4 | 1 | 1 | 2 | 8 |
| HIRA | 0 | 0 | 1 | 0 | 1 |
| LGR6, UBE2T | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Leiden Open Variation Database | 5 | 0 | 0 | 0 | 5 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 0 | 2 | 2 |
| OMIM | 2 | 0 | 0 | 0 | 2 |
| Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet | 0 | 1 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 1 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 1 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 0 | 1 | 0 | 1 |
| Revvity Omics, Revvity | 1 | 0 | 0 | 0 | 1 |