Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000132981 | SCV000719703 | likely benign | not specified | 2017-06-05 | 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 |
RCV002514763 | SCV003476656 | likely benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV003380466 | SCV004098744 | 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). Splicing prediction algorithms do not support significant splicing alteration (spliceAI score <=0.1) (BP4). 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 |
RCV000132981 | SCV000187965 | benign | not specified | 2010-05-14 | no assertion criteria provided | curation |