Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000086383 | SCV000193953 | likely pathogenic | Cornelia de Lange syndrome 1 | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002281922 | SCV002571577 | likely pathogenic | not provided | 2022-10-17 | 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 |
Kasturba Medical College, |
RCV000086383 | SCV003804267 | likely pathogenic | Cornelia de Lange syndrome 1 | 2023-01-23 | criteria provided, single submitter | clinical testing |