Obstetrics and Gynecology Department (Johns Hopkins School Of Medicine)
General information
Obstetrics and Gynecology Department
Johns Hopkins School Of Medicine
600 N Wolfe Street
Baltimore
Maryland
United States - 21287
https://www.hopkinsmedicine.org/the-johns-hopkins-hospital
Organization ID: 509333
Johns Hopkins School Of Medicine
600 N Wolfe Street
Baltimore
Maryland
United States - 21287
https://www.hopkinsmedicine.org/the-johns-hopkins-hospital
Organization ID: 509333
Personnel
- Angie Jelin, Principal Investigator
Phone: 4156245206
Email: ajelin1@jhmi.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 35
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ANTXR1 | 1 | Nov 9, 2023 |
| BMP10 | 1 | May 16, 2024 |
| CCDC179 | 1 | Nov 9, 2023 |
| CELSR1 | 1 | May 16, 2024 |
| CELSR3 | 3 | May 16, 2024 |
| CYP4F22 | 1 | May 16, 2024 |
| EGFL6 | 1 | Nov 9, 2023 |
| EIF6 | 1 | Nov 9, 2023 |
| EPHA1 | 1 | Nov 9, 2023 |
| FANCE | 1 | Nov 9, 2023 |
| FLCN | 1 | Nov 9, 2023 |
| HSD11B1 | 1 | Nov 9, 2023 |
| HSD11B1-AS1 | 1 | Nov 9, 2023 |
| IGL | 1 | Nov 9, 2023 |
| INTS2 | 1 | Nov 9, 2023 |
| KDM5B | 1 | Nov 9, 2023 |
| LINC02718 | 1 | Nov 9, 2023 |
| LMO7 | 1 | Nov 9, 2023 |
| LOC126862157 | 1 | Nov 9, 2023 |
| MMP26 | 1 | Nov 9, 2023 |
| OR51A7 | 1 | Nov 9, 2023 |
| PKD1 | 1 | Nov 9, 2023 |
| PRAMEF2 | 1 | Nov 9, 2023 |
| RAB23 | 1 | Nov 9, 2023 |
| RPL4 | 1 | Nov 9, 2023 |
| SOX18 | 1 | Nov 9, 2023 |
| SPINT3 | 1 | Nov 9, 2023 |
| STK38 | 1 | Nov 9, 2023 |
| TCHHL1 | 1 | Nov 9, 2023 |
| TCP11L1 | 1 | Nov 9, 2023 |
| TMEM120B | 1 | Nov 9, 2023 |
| TP63 | 1 | May 16, 2024 |
| TPSD1 | 1 | Nov 9, 2023 |
| TSHR | 1 | Nov 9, 2023 |
| WDR81 | 1 | Nov 9, 2023 |
| WIZ | 1 | May 16, 2024 |
| WNT11 | 1 | May 16, 2024 |
| ZNF280B | 1 | Nov 9, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Bladder exstrophy-epispadias-cloacal extrophy complex | 24 | May 16, 2024 |
| Exstrophy-epispadias complex | 11 | Nov 9, 2023 |