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 |
|---|---|---|---|---|---|
| 5 | 12 | 7 | 0 | 0 | 24 |
Gene and significance breakdown #
Total genes and gene combinations: 11
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| PARN | 2 | 2 | 1 | 5 |
| MECOM, TERC | 0 | 4 | 0 | 4 |
| TERT | 1 | 3 | 0 | 4 |
| RTEL1, RTEL1-TNFRSF6B | 1 | 0 | 2 | 3 |
| CTC1 | 0 | 0 | 2 | 2 |
| ANKRD26 | 1 | 0 | 0 | 1 |
| CTC1, PFAS | 0 | 0 | 1 | 1 |
| DKC1 | 0 | 1 | 0 | 1 |
| GATA2 | 0 | 1 | 0 | 1 |
| LOC110806263, TERT | 0 | 1 | 0 | 1 |
| WRAP53 | 0 | 0 | 1 | 1 |
Condition and significance breakdown #
Total conditions: 13
| Condition | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 2 | 2 | 1 | 5 |
| Dyskeratosis congenita, autosomal dominant 1 | 0 | 4 | 0 | 4 |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 0 | 0 | 3 | 3 |
| Acute myeloid leukemia | 2 | 0 | 0 | 2 |
| Dyskeratosis congenita, autosomal recessive 5 | 0 | 0 | 2 | 2 |
| Abnormal pulmonary interstitial morphology | 0 | 1 | 0 | 1 |
| Abnormal pulmonary interstitial morphology; Short telomere length | 0 | 1 | 0 | 1 |
| Dyskeratosis congenita, X-linked | 0 | 1 | 0 | 1 |
| Dyskeratosis congenita, autosomal recessive 3 | 0 | 0 | 1 | 1 |
| Macrocytic anemia; Premature graying of hair; Abnormal pulmonary interstitial morphology; Short telomere length | 0 | 1 | 0 | 1 |
| Myelodysplasia | 0 | 1 | 0 | 1 |
| Myelodysplastic syndrome | 0 | 1 | 0 | 1 |
| Thrombocytopenia 2 | 1 | 0 | 0 | 1 |