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 |
|---|---|---|---|---|---|
| 25 | 0 | 5 | 0 | 0 | 30 |
Condition and significance breakdown #
Total conditions: 4
| Condition | pathogenic | uncertain significance | total |
|---|---|---|---|
| Hereditary nonpolyposis colorectal neoplasms | 18 | 5 | 23 |
| Hereditary nonpolyposis colon cancer | 4 | 0 | 4 |
| Hereditary cancer-predisposing syndrome | 2 | 0 | 2 |
| See cases | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 5
| Submitter | pathogenic | uncertain significance | total |
|---|---|---|---|
| Invitae | 17 | 5 | 22 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 4 | 0 | 4 |
| GeneKor MSA | 2 | 0 | 2 |
| ISCA site 1 | 1 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 1 |