Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001172335 | SCV001335368 | likely pathogenic | Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 2019-02-07 | criteria provided, single submitter | clinical testing | This variant was identified as de novo (maternity and paternity confirmed). |
Gene |
RCV002509619 | SCV002818925 | likely pathogenic | not provided | 2022-07-08 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30612693, 28213671) |