Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145987 | SCV000193136 | pathogenic | Rett syndrome, congenital variant | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000145987 | SCV002026224 | pathogenic | Rett syndrome, congenital variant | 2018-01-20 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV004558344 | SCV005046875 | pathogenic | FOXG1 disorder | 2024-05-08 | 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). This variant has been identified as a de novo occurrence in an individual with Rett syndrome with confirmed parental relationships (PS2, PMID: 21441262). This variant is absent from gnomAD v4.1 (PM2_Supporting). |
Rett |
RCV000145987 | SCV000222385 | pathogenic | Rett syndrome, congenital variant | 2011-09-26 | no assertion criteria provided | curation |