Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV000760272 | SCV000890110 | pathogenic | Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome | 2017-07-03 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV000170131 | SCV004232290 | pathogenic | Rett syndrome | 2024-01-11 | 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: This variant is absent from gnomAD (PM2_Supporting). Has been observed in in at least 2 individuals with phenotypes consistent with MECP2-related disease (PS4_Supporting).( ClinVar Variation ID: 189648, PMID 10745042‚ 23262346, 12075485). Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). |
Rett |
RCV000170131 | SCV000222459 | pathogenic | Rett syndrome | 2013-06-12 | no assertion criteria provided | curation |