Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000132924 | SCV002047341 | benign | Rett syndrome | 2021-12-13 | reviewed by expert panel | curation | The allele frequency of the p.Pro388Leu (NM_004992.3) variant in MECP2 is 0.014% in Latino sub population in gnomAD, which is high enough to be classified as likely benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). Thep.Pro388Leu variant is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2). In summary, the p.Pro388Leu variant in MECP2 is classified as benign based on the ACMG/AMP criteria (BS1, BS2). |
Invitae | RCV001519066 | SCV001727869 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2022-08-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000693901 | SCV001823493 | likely benign | not provided | 2020-02-26 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 12872250, 17383248, 11960578) |
Centre for Population Genomics, |
RCV000132924 | SCV004101625 | benign | Rett syndrome | 2023-10-18 | 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 between 0.008% and 0.03% (BS1). The variant has been reported by the ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel as observed in at least 2 individuals with no features of Rett Syndrome (BS2). |
Rett |
RCV000132924 | SCV000187905 | uncertain significance | Rett syndrome | 2010-07-13 | no assertion criteria provided | curation |