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 | risk factor | total |
|---|---|---|---|---|---|---|
| 0 | 1 | 0 | 7 | 6 | 1 | 12 |
Condition and significance breakdown #
Total conditions: 8
| Condition | likely pathogenic | likely benign | benign | risk factor | total |
|---|---|---|---|---|---|
| not provided | 0 | 2 | 4 | 0 | 6 |
| RET-related disorder | 0 | 5 | 0 | 0 | 5 |
| Multiple endocrine neoplasia, type 2 | 0 | 0 | 3 | 0 | 3 |
| Multiple endocrine neoplasia type 2A | 1 | 1 | 0 | 0 | 2 |
| not specified | 0 | 0 | 2 | 0 | 2 |
| Aganglionic megacolon | 0 | 0 | 0 | 1 | 1 |
| Hirschsprung disease, susceptibility to, 1 | 0 | 0 | 0 | 1 | 1 |
| Multiple endocrine neoplasia type 2B | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | likely pathogenic | likely benign | benign | risk factor | total |
|---|---|---|---|---|---|
| GeneDx | 0 | 2 | 5 | 0 | 7 |
| PreventionGenetics, part of Exact Sciences | 0 | 5 | 0 | 0 | 5 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 3 | 0 | 3 |
| OMIM | 0 | 0 | 0 | 1 | 1 |
| Counsyl | 0 | 1 | 0 | 0 | 1 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 0 | 0 | 0 | 1 | 1 |
| Center of Genomic medicine, Geneva, University Hospital of Geneva | 0 | 0 | 0 | 1 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 1 | 0 | 0 | 0 | 1 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 1 | 0 | 1 |