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 |
|---|---|---|---|---|---|
| 7 | 3 | 4 | 0 | 6 | 20 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| HK1 | 7 | 3 | 4 | 6 | 20 |
Submitter and significance breakdown #
Total submitters: 7
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 6 | 6 |
| OMIM | 3 | 0 | 0 | 0 | 3 |
| Baylor Genetics | 0 | 0 | 3 | 0 | 3 |
| Mendelics | 2 | 1 | 0 | 0 | 3 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 1 | 0 | 2 |
| UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano | 1 | 1 | 0 | 0 | 2 |
| Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin | 1 | 0 | 0 | 0 | 1 |