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 |
|---|---|---|---|---|---|
| 1 | 0 | 7 | 6 | 3 | 14 |
Condition and significance breakdown #
Total conditions: 4
| Condition | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| ASMT-related disorder | 0 | 0 | 4 | 2 | 6 |
| not provided | 1 | 5 | 1 | 1 | 6 |
| See cases | 0 | 1 | 1 | 0 | 2 |
| not specified | 0 | 1 | 1 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 4 | 2 | 6 |
| Revvity Omics, Revvity | 0 | 4 | 0 | 0 | 4 |
| ISCA site 4 | 0 | 1 | 1 | 0 | 2 |
| Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital | 1 | 1 | 0 | 0 | 2 |
| Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital | 0 | 0 | 1 | 0 | 1 |
| Eurofins Ntd Llc (ga) | 0 | 1 | 0 | 0 | 1 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 1 | 1 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 1 | 0 | 1 |