Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV003990234 | SCV004806669 | uncertain significance | Biotinidase deficiency | 2024-03-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV004810666 | SCV005435077 | pathogenic | not provided | 2024-11-01 | criteria provided, single submitter | clinical testing | BTD: PVS1, PM2 |