Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000171481 | SCV000221680 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
Center for Genomic Medicine, |
RCV003989486 | SCV004806357 | pathogenic | Congenital bile acid synthesis defect 1 | 2024-03-25 | criteria provided, single submitter | clinical testing |