Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000503079 | SCV000598121 | pathogenic | DYRK1A-related intellectual disability syndrome | 2017-02-06 | criteria provided, single submitter | clinical testing | This pathogenic variant was identified in a young patient with development delay, epilepsy and microcephaly, in combination with another variant in CPA6 (VUS). |
Institute of Medical Genetics and Applied Genomics, |
RCV001268091 | SCV001446739 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing |