Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000994477 | SCV001148044 | likely pathogenic | not provided | 2020-01-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001838339 | SCV002098062 | uncertain significance | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 2022-02-22 | criteria provided, single submitter | clinical testing |