Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Population Genomics, |
RCV000133140 | SCV004809019 | pathogenic | Rett syndrome | 2024-03-14 | 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 3.0, 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). At least one individual with this variant has been reported with a clinical phenotype consistent with Rett syndrome (PP4). PMID 11930274 This variant is absent from gnomAD (PM2_Supporting). |
OMIM | RCV000133140 | SCV000032848 | pathogenic | Rett syndrome | 2002-02-01 | no assertion criteria provided | literature only | |
OMIM | RCV000170111 | SCV000032849 | pathogenic | Severe neonatal-onset encephalopathy with microcephaly | 2002-02-01 | no assertion criteria provided | literature only | |
Rett |
RCV000133140 | SCV000188132 | pathogenic | Rett syndrome | 2002-09-05 | no assertion criteria provided | curation | |
Rett |
RCV000170111 | SCV000222434 | pathogenic | Severe neonatal-onset encephalopathy with microcephaly | 2002-09-05 | no assertion criteria provided | curation |