Massachusetts General Hospital Undiagnosed Diseases Network (Massachusetts General Hospital)
General information
Personnel
- Lauren Briere, Genetic Counselor
Phone: 6176438427
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| NPHP3-ACAD11 | 1 | Mar 23, 2021 |
| UBA5 | 1 | Mar 23, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Developmental and epileptic encephalopathy, 44 | 1 | Mar 23, 2021 |