Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598162 | SCV000704618 | pathogenic | not provided | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Rolfs Rare Disease Consulting, |
RCV003492118 | SCV004232505 | pathogenic | Cholestasis, progressive familial intrahepatic, 4 | 2020-01-01 | criteria provided, single submitter | clinical testing |