Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000995482 | SCV001149670 | likely pathogenic | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 2019-06-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001172028 | SCV001334957 | likely pathogenic | not provided | 2020-03-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001172028 | SCV003798497 | uncertain significance | not provided | 2022-08-02 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |