Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV000003015 | SCV004809988 | pathogenic | Congenital bile acid synthesis defect 1 | 2024-04-04 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003015 | SCV000023173 | pathogenic | Congenital bile acid synthesis defect 1 | 2003-04-01 | no assertion criteria provided | literature only |