Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Population Genomics, |
RCV000170182 | SCV004101627 | pathogenic | Rett syndrome | 2023-10-18 | 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). Genomic rearrangements within the deletion prone region have been observed in at least 5 individuals with phenotypes consistent with MECP2-related disease (PS4, PMID: 14974082). |
Rett |
RCV000170182 | SCV000222511 | pathogenic | Rett syndrome | 2008-01-21 | no assertion criteria provided | curation |