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 |
|---|---|---|---|---|---|
| 4 | 2 | 12 | 0 | 3 | 20 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| SQSTM1 | 4 | 2 | 11 | 3 | 19 |
| GRN | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 4 | 0 | 0 | 0 | 4 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 0 | 4 | 0 | 4 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 2 | 0 | 3 |
| Genome-Nilou Lab | 0 | 0 | 0 | 3 | 3 |
| MGZ Medical Genetics Center | 0 | 0 | 2 | 0 | 2 |
| Baylor Genetics | 0 | 1 | 0 | 0 | 1 |
| Centogene AG - the Rare Disease Company | 1 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 0 | 1 | 0 | 1 |
| 3billion | 0 | 0 | 1 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 0 | 1 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 0 | 1 | 0 | 1 |