Clinical Genetics Department (Johns Hopkins All Children's Hospital)
General information
Personnel
- Melissa Crenshaw, Medical Director
Phone: 7277678491
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 1
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| PURA | 1 | May 17, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 | May 17, 2021 |