Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Population Genomics, |
RCV000170285 | SCV004232235 | uncertain significance | Rett syndrome | 2024-01-16 | 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: This variant has been identified as a de novo occurrence in an individual This variant has been identified as a de novo occurrence in an individual with Rett syndrome without confirmation of paternity and maternity (PM6). PMID: 16630165 At least one individual with this variant has been reported with a clinical phenotype consistent with Rett syndrome (PP4). PMID: 16630165 This variant is absent from gnomAD (PM2_Supporting). |
OMIM | RCV000170285 | SCV000032847 | pathogenic | Rett syndrome | 2006-04-01 | no assertion criteria provided | literature only | |
Rett |
RCV000170285 | SCV000222617 | pathogenic | Rett syndrome | 2006-07-04 | no assertion criteria provided | curation |