Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001800458 | SCV002047350 | likely benign | Rett syndrome | 2021-12-22 | reviewed by expert panel | curation | The allele frequency of the c.377+18C>G variant (NM_004992.3) in MECP2 is 0.01% 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). Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4). In summary, the c.377+18C>G variant in MECP2 is classified as likely benign based on the ACMG/AMP criteria (BS1, BP4). |
Gene |
RCV000605977 | SCV000728700 | likely benign | not specified | 2017-10-25 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV002514774 | SCV003453006 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2023-06-09 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV001800458 | SCV004098778 | likely benign | Rett syndrome | 2023-08-14 | 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 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). Synonymous or intronic variant outside donor and acceptor splice regions where splicing prediction algorithms do not support significant splicing alteration (spliceAI score <=0.1) (BP4, BP7). |
Rett |
RCV000144098 | SCV000189174 | not provided | not provided | flagged submission | not provided | ||
Rett |
RCV000170267 | SCV000222599 | uncertain significance | Autism, susceptibility to, X-linked 3 | 2007-11-01 | no assertion criteria provided | curation |