Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000399379 | SCV000467233 | uncertain significance | Pitt-Hopkins-like syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000303599 | SCV000467234 | uncertain significance | Cortical dysplasia-focal epilepsy syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001753835 | SCV002006716 | uncertain significance | not provided | 2019-07-11 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |