Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000003041 | SCV002519871 | pathogenic | Hypercholanemia, familial 1 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003041 | SCV000023199 | pathogenic | Hypercholanemia, familial 1 | 2003-05-01 | no assertion criteria provided | literature only |