Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Human Genetics, |
RCV001376660 | SCV001478005 | likely pathogenic | Global developmental delay; Intellectual disability | 2021-01-18 | criteria provided, single submitter | research | |
Gene |
RCV002293520 | SCV002586627 | pathogenic | not provided | 2022-10-23 | criteria provided, single submitter | clinical testing | Not observed 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: 33944996) |