Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Molecular Pathology, |
RCV002466878 | SCV002761733 | pathogenic | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 2022-08-05 | criteria provided, single submitter | clinical testing |