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 |
|---|---|---|---|---|---|
| 0 | 2 | 5 | 0 | 1 | 8 |
Condition and significance breakdown #
Total conditions: 2
| Condition | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|
| Autosomal recessive congenital ichthyosis 1 | 2 | 5 | 1 | 8 |
| not provided | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 5
| Submitter | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|
| Natera, Inc. | 0 | 2 | 1 | 3 |
| Illumina Laboratory Services, Illumina | 0 | 3 | 0 | 3 |
| Baylor Genetics | 1 | 0 | 0 | 1 |
| Counsyl | 1 | 0 | 0 | 1 |
| Invitae | 0 | 0 | 1 | 1 |