Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Population Genomics, |
RCV000170129 | SCV004232335 | uncertain significance | 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 a variant of uncertain significance. At least the following criteria are met: At least the following criteria are met: Protein length changes due to in-frame deletions/insertions in a non-repeat region (PM4). At least one individual with this variant has been reported with a clinical phenotype consistent with Rett syndrome (PP4).PMID 11241840 This variant is absent from gnomAD (PM2_Supporting). |
Rett |
RCV000170129 | SCV000222457 | pathogenic | Rett syndrome | 2002-09-05 | no assertion criteria provided | curation |