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 |
|---|---|---|---|---|---|
| 26 | 1 | 5 | 0 | 0 | 31 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| SHOX | 19 | 1 | 3 | 22 |
| LOC107652445, SHOX | 7 | 0 | 1 | 8 |
| CNE7, LOC108251802 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 7
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Mendelics | 12 | 0 | 2 | 14 |
| OMIM | 13 | 0 | 0 | 13 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 4 | 0 | 0 | 4 |
| 3billion | 0 | 1 | 1 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 1 |
| Geisinger Autism and Developmental Medicine Institute, Geisinger Health System | 0 | 0 | 1 | 1 |