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 | 1 | 0 | 2 | 1 | 3 |
Condition and significance breakdown #
Total conditions: 2
| Condition | pathogenic | likely pathogenic | likely benign | benign | total |
|---|---|---|---|---|---|
| not provided | 1 | 0 | 2 | 1 | 3 |
| Arthrogryposis, distal, with impaired proprioception and touch | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 4
| Submitter | pathogenic | likely pathogenic | likely benign | benign | total |
|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 1 | 1 | 2 |
| GeneDx | 0 | 0 | 1 | 0 | 1 |
| Revvity Omics, Revvity | 1 | 0 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 0 | 1 | 0 | 0 | 1 |