Department of Clinical Genetics, Nationwide Children's Hospital
General information
Personnel
- Alayne Meyer, Genetic Counselor
Phone: 6143553573
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 4
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| GARS1 | 1 | Feb 21, 2022 |
| LOC126806420 | 1 | Jul 7, 2023 |
| TTN | 3 | Jul 7, 2023 |
| TTN-AS1 | 2 | Jul 7, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Charcot-Marie-Tooth disease type 2D | 1 | Feb 21, 2022 |
| Titinopathy | 3 | Jul 7, 2023 |