Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centogene AG - |
RCV001250179 | SCV001424504 | likely pathogenic | Cholestasis, progressive familial intrahepatic, 4 | criteria provided, single submitter | clinical testing | ||
Rolfs Rare Disease Consulting, |
RCV001250179 | SCV004232509 | pathogenic | Cholestasis, progressive familial intrahepatic, 4 | 2019-01-01 | criteria provided, single submitter | clinical testing |