Rolfs Rare Disease Consulting (Rolfs Consulting Und Verwaltungs GmbH)
General information
Personnel
- Arndt Rolfs, Medical Director
Phone: +49 1708348540
Email: arndt.rolfs@rcv-biotech.com - Aliaksandr Skrahin, Principal Investigator
Phone: +49 15172153183
Email: aliaksandr.skrahin@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 70
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCB11 | 25 | Jan 20, 2024 |
| ABCB4 | 26 | Jan 21, 2024 |
| ATP8B1 | 9 | Jan 20, 2024 |
| ATP8B1-AS1 | 4 | Jan 20, 2024 |
| LOC126806400 | 3 | Jan 20, 2024 |
| NR1H4 | 2 | Jan 20, 2024 |
| TJP2 | 8 | Jan 20, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cholestasis, progressive familial intrahepatic, 4 | 8 | Jan 20, 2024 |
| Cholestasis, progressive familial intrahepatic, 5 | 2 | Jan 20, 2024 |
| Progressive familial intrahepatic cholestasis type 1 | 9 | Jan 20, 2024 |
| Progressive familial intrahepatic cholestasis type 2 | 25 | Jan 20, 2024 |
| Progressive familial intrahepatic cholestasis type 3 | 26 | Jan 21, 2024 |