Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Population Genomics, |
RCV000133017 | SCV004098826 | pathogenic | Rett syndrome | 2023-08-14 | 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 2.0, 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 has been identified as a de novo occurrence in an individual with Rett syndrome without confirmation of paternity and maternity (PM6, http://dx.doi.org/10.20517/jtgg.2020.06). At least one patient with this variant has been reported in an individual with a clinical phenotype suggestive of Rett syndrome (PP4). This variant is absent from gnomAD (PM2_Supporting). |
Rett |
RCV000133017 | SCV000188004 | pathogenic | Rett syndrome | 2010-01-16 | no assertion criteria provided | curation |