Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002472326 | SCV002769692 | benign | Rett syndrome | 2022-10-11 | reviewed by expert panel | curation | The allele frequency of the p.His52Arg variant in MECP2 (NM_004992.3) is 0.121% in the South Asian sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). In summary, the p.His52Arg variant in MECP2 is classified as Benign based on the ACMG/AMP criteria (BA1). |
Invitae | RCV001520931 | SCV001730147 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001689675 | SCV001915565 | benign | not provided | 2020-02-17 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV002472326 | SCV004101592 | benign | 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 benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is higher than the 0.03% threshold defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders VCEP 2.0 (BA1). |
Rett |
RCV000133025 | SCV000188012 | uncertain significance | not specified | 2006-02-03 | no assertion criteria provided | curation |