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 |
|---|---|---|---|---|---|
| 3 | 0 | 2 | 0 | 0 | 5 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | uncertain significance | total |
|---|---|---|---|
| SAMD12 | 3 | 2 | 5 |
Submitter and significance breakdown #
Total submitters: 5
| Submitter | pathogenic | uncertain significance | total |
|---|---|---|---|
| OMIM | 1 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 1 | 1 |
| The Walter and Eliza Hall Institute of Medical Research | 1 | 0 | 1 |
| Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital | 1 | 0 | 1 |
| New York Genome Center | 0 | 1 | 1 |