Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000170289 | SCV002061399 | pathogenic | Rett syndrome | 2021-06-15 | criteria provided, single submitter | clinical testing | PVS1, PS2, PM2 |
Centre for Population Genomics, |
RCV000170289 | SCV004098828 | 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: This variant is 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, PMID: 23810759). This variant is absent from gnomAD (PM2_Supporting). |
Rett |
RCV000170289 | SCV000222622 | pathogenic | Rett syndrome | 2013-12-05 | no assertion criteria provided | curation |