Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV000505239 | SCV000599274 | likely pathogenic | Intellectual disability, X-linked 30 | 2017-02-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001785643 | SCV002028016 | pathogenic | not provided | 2021-11-15 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; No data available from control populations to assess the frequency of this variant; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31836586) |