Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Lab, |
RCV000133031 | SCV000537181 | pathogenic | Rett syndrome | 2015-07-10 | criteria provided, single submitter | clinical testing | |
Kariminejad - |
RCV001814066 | SCV001755243 | pathogenic | Abnormality of the nervous system | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV000133031 | SCV004101594 | likely pathogenic | Rett syndrome | 2023-10-12 | 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 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 |
RCV000133031 | SCV000188018 | pathogenic | Rett syndrome | 2008-02-18 | no assertion criteria provided | curation |