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 | 1 | 4 | 14 | 0 | 21 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| not provided | 1 | 0 | 3 | 14 | 18 |
| Epidermolysis bullosa dystrophica | 2 | 0 | 1 | 1 | 4 |
| COL7A1-related disorders | 0 | 1 | 0 | 0 | 1 |
| Epidermolysis bullosa dystrophica inversa, autosomal recessive | 0 | 0 | 1 | 0 | 1 |
| not specified | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 6
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Invitae | 1 | 0 | 2 | 14 | 17 |
| Natera, Inc. | 0 | 0 | 2 | 1 | 3 |
| Biomedical Innovation Departament, CIEMAT | 2 | 0 | 0 | 0 | 2 |
| GeneDx | 0 | 0 | 1 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 1 | 0 | 0 | 1 |
| Mendelics | 0 | 0 | 1 | 0 | 1 |