Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000133257 | SCV000248000 | uncertain significance | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV003483520 | SCV004232226 | uncertain significance | Rett syndrome | 2024-01-15 | 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 likely benign. At least the following criteria are met: The variant is observed in at least 2 individuals with no features of Rett Syndrome (BS2). |
Rett |
RCV000133257 | SCV000188263 | uncertain significance | not specified | 2011-02-15 | no assertion criteria provided | curation |