Advanced Center For Translational And Genetic Medicine (Ann & Robert H. Lurie Children's Hospital Of Chicago), CHDM
General information
Personnel
- Erica Davis, Principal Investigator
Phone: 312-503-7662
Email: eridavis@luriechildrens.org - Erica Davis, Principal Investigator
Phone: 919-684-2018
Email: erica.davis@duke.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 62
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ALMS1 | 1 | Jul 20, 2016 |
| ARL6 | 2 | Jul 20, 2016 |
| BBS1 | 6 | May 17, 2023 |
| BBS10 | 3 | May 17, 2023 |
| BBS12 | 3 | May 17, 2023 |
| BBS2 | 2 | May 17, 2023 |
| BBS4 | 6 | May 17, 2023 |
| BBS5 | 3 | May 17, 2023 |
| BBS7 | 3 | May 17, 2023 |
| CEP76 | 13 | Jul 29, 2025 |
| IFT172 | 1 | May 17, 2023 |
| IFT74 | 1 | Jul 20, 2016 |
| LOC126862183 | 1 | May 17, 2023 |
| NPHP1 | 2 | May 17, 2023 |
| PSMG2 | 13 | Jul 29, 2025 |
| RPL17 | 2 | Apr 26, 2024 |
| RPL17-C18orf32 | 2 | Apr 26, 2024 |
| SCAPER | 1 | May 17, 2023 |
| SNAPIN | 5 | Aug 22, 2025 |
| ZDHHC24 | 3 | May 17, 2023 |
| ZNF142 | 6 | Mar 10, 2019 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Bardet-Biedl syndrome | 16 | Sep 21, 2016 |
| Bardet-Biedl syndrome 1 | 21 | Jul 29, 2025 |
| Congenital hypoplastic anemia | 2 | Apr 26, 2024 |
| Joubert syndrome 1 | 5 | Jul 29, 2025 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 6 | Mar 10, 2019 |
| Retinitis pigmentosa | 3 | Jul 29, 2025 |
| See cases | 8 | Aug 22, 2025 |
| not provided | 1 | Nov 24, 2015 |