Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mashhad Undiagnosed Diseases Center, |
RCV003389095 | SCV004100322 | likely pathogenic | Craniometaphyseal dysplasia, autosomal dominant | 2023-10-31 | criteria provided, single submitter | clinical testing |