School of Medicine NGS Core Facility (Fu Jen Catholic University)
General information
School of Medicine NGS Core Facility
Fu Jen Catholic University
Room MD312, School of Medicine, 510 Zhongzheng Rd. Xinzhuang Dist.
New Taipei City
Taiwan - 24205
http://www.mc.fju.edu.tw/
Organization ID: 508292
Fu Jen Catholic University
Room MD312, School of Medicine, 510 Zhongzheng Rd. Xinzhuang Dist.
New Taipei City
Taiwan - 24205
http://www.mc.fju.edu.tw/
Organization ID: 508292
Personnel
- Jyh-Feng Lu, Principal Investigator
Phone: 886-2-29056391
Email: 049696@mail.fju.edu.tw
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 5
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| LOC102724058 | 3 | Oct 17, 2021 |
| SCN1A | 5 | Oct 17, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Generalized epilepsy with febrile seizures plus, type 2 | 1 | Oct 17, 2021 |
| Severe myoclonic epilepsy in infancy | 4 | Oct 17, 2021 |