Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001785284 | SCV002026228 | pathogenic | Rett syndrome, congenital variant | 2018-01-20 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV004558648 | SCV005046854 | pathogenic | FOXG1 disorder | 2024-05-10 | criteria provided, single submitter | curation | This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as pathogenic. At least the following criteria are met: Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). This variant is absent from gnomAD v4 (PM2_Supporting). Has been observed in at least 2 individuals with phenotypes consistent with FOXG1 disorder (PS4_Supporting). PMID:24836831 , PMID:28661489 , Variation ID: 1325747 |