The Telomere Center at Johns Hopkins (Johns Hopkins University School of Medicine)
General information
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 27
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACD | 2 | Jun 5, 2024 |
| LOC110806263 | 1 | Mar 2, 2023 |
| LOC110806306 | 1 | Mar 2, 2023 |
| PARN | 2 | Mar 2, 2023 |
| POT1 | 9 | Jun 5, 2024 |
| RTEL1 | 3 | Mar 2, 2023 |
| RTEL1-TNFRSF6B | 3 | Mar 2, 2023 |
| TERC | 1 | Mar 2, 2023 |
| TERT | 6 | Mar 2, 2023 |
| TINF2 | 4 | Jun 5, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Long telomere syndrome | 15 | Jun 5, 2024 |
| Telomere syndrome | 12 | Mar 2, 2023 |