Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Medicine Center of Excellence, |
RCV004527519 | SCV005038826 | likely pathogenic | Woodhouse-Sakati syndrome | 2024-03-14 | criteria provided, single submitter | clinical testing |