Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000499409 | SCV000598122 | uncertain significance | Familial temporal lobe epilepsy 5 | 2017-02-06 | criteria provided, single submitter | clinical testing | This variant (VUS in CPA6) was identified in a young patient with development delay, epilepsy and microcephaly, in combination with another pathogenic variant in DYRK1A. |