Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Inherited Metabolic Diseases, |
RCV001374413 | SCV001571367 | likely pathogenic | Congenital bile acid synthesis defect 2 | 2021-04-13 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001374413 | SCV003834683 | likely pathogenic | Congenital bile acid synthesis defect 2 | 2022-05-03 | criteria provided, single submitter | clinical testing |