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 | 0 | 3 | 1 | 1 | 5 |
Condition and significance breakdown #
Total conditions: 4
| Condition | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| not specified | 1 | 1 | 0 | 2 |
| MITF-related disorder | 1 | 0 | 0 | 1 |
| Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8; Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | 1 | 0 | 0 | 1 |
| not provided | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 5
| Submitter | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 1 | 0 | 0 | 1 |
| GeneDx | 0 | 0 | 1 | 1 |
| PreventionGenetics, part of Exact Sciences | 1 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 1 | 0 | 0 | 1 |
| Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital | 0 | 1 | 0 | 1 |