Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Population Genomics, |
RCV000133217 | SCV004232305 | pathogenic | Rett syndrome | 2024-01-12 | 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: This variant is absent from gnomAD (PM2_Supporting). Has been observed in in at least 2 individuals with phenotypes consistent with MECP2-related disease (PS4_Supporting). PMID: 18842453, PMID: 11214906 This variant is absent from gnomAD (PM2_Supporting). |
Rett |
RCV000133217 | SCV000188216 | pathogenic | Rett syndrome | 2002-02-15 | no assertion criteria provided | curation |