Clinical Genetics Branch (National Institutes of Health), CGB-DCEG
General information
Personnel
- Seth Brodie, Informatics staff
Phone: 240-760-6462
Email: seth.brodie@nih.gov - Megan Frone, Genetic Counselor
Phone: 2402765968
Email: megan.frone@nih.gov - Sharon Savage, Principal Investigator
Phone: 2402767252
Email: savagesh@mail.nih.gov
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 5
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Diamond-Blackfan anemia-like | 1 | Dec 14, 2020 |
| Radial aplasia-thrombocytopenia syndrome | 2 | Nov 19, 2019 |
| Shwachman-Diamond syndrome 1 | 2 | Apr 12, 2023 |