Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001268844 | SCV001448049 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV004819242 | SCV005440713 | likely pathogenic | Intellectual disability, autosomal dominant 30 | 2024-10-25 | criteria provided, single submitter | clinical testing |