Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146351 | SCV000193626 | pathogenic | Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV003380462 | SCV004098838 | likely 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 likely pathogenic. At least the following criteria are met: Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). This variant is absent from gnomAD (PM2_Supporting). |
Rett |
RCV000132965 | SCV000187949 | pathogenic | not provided | 2011-02-15 | no assertion criteria provided | curation |