Bodamer Research Lab (Boston Children's Hospital)
General information
Bodamer Research Lab
Boston Children's Hospital
3 Blackfan Circle
CLSB 15
Boston
Massachusetts
United States - 02115
http://bodamerlab.org/home/
Organization ID: 506342
Boston Children's Hospital
3 Blackfan Circle
CLSB 15
Boston
Massachusetts
United States - 02115
http://bodamerlab.org/home/
Organization ID: 506342
Personnel
- Christina Hung, Staff
Phone: 617-919-4861
Email: christina.hung@childrens.harvard.edu
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 25
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| HBB | 1 | Sep 22, 2017 |
| KDM6A | 6 | Mar 2, 2023 |
| KMT2D | 17 | Mar 2, 2023 |
| LOC106099062 | 1 | Sep 22, 2017 |
| LOC107133510 | 1 | Sep 22, 2017 |
| MT-CO2 | 1 | Oct 3, 2017 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Kabuki syndrome 1 | 17 | Mar 2, 2023 |
| Kabuki syndrome 2 | 6 | Mar 2, 2023 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 1 | Oct 3, 2017 |
| beta Thalassemia | 1 | Sep 22, 2017 |