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 | 5 | 5 | 0 | 0 | 15 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| LONP2, SIAH1 | 5 | 5 | 3 | 13 |
| SIAH1 | 0 | 0 | 2 | 2 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| OMIM | 5 | 0 | 0 | 5 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 0 | 0 | 1 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 1 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 0 | 1 | 1 |
| MVZ Martinsried, Medicover Genetics | 0 | 0 | 1 | 1 |
| Mendelics | 0 | 1 | 0 | 1 |
| Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center | 0 | 1 | 0 | 1 |
| New York Genome Center | 0 | 1 | 0 | 1 |
| Pediatrics, Carlos Van Buren Hospital | 0 | 1 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 1 |