Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV003990904 | SCV004807980 | likely pathogenic | Bardet-Biedl syndrome 16 | 2024-03-29 | criteria provided, single submitter | clinical testing |