Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726577 | SCV000345645 | pathogenic | not provided | 2016-08-25 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000003018 | SCV003825256 | pathogenic | Congenital bile acid synthesis defect 1 | 2022-01-05 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003018 | SCV000023176 | pathogenic | Congenital bile acid synthesis defect 1 | 2003-04-01 | no assertion criteria provided | literature only |