Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001268880 | SCV001448102 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Laboratory of Medical Genetics, |
RCV002464434 | SCV002760141 | pathogenic | Congenital contractures of the limbs and face, hypotonia, and developmental delay | 2022-11-29 | criteria provided, single submitter | research |