Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001568454 | SCV001792327 | pathogenic | not provided | 2023-01-11 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Predicted to create ATG start codon in the 5UTR; This variant is associated with the following publications: (PMID: 34022131) |
Laboratory of Molecular Genetics |
RCV001779254 | SCV002016256 | pathogenic | Neurodevelopmental disorder | 2021-06-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001568454 | SCV002544957 | pathogenic | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | MEF2C: PS2:Very Strong, PM2, PS4:Moderate, PS3:Supporting |
Institute of Human Genetics, |
RCV001685531 | SCV004239261 | pathogenic | Intellectual disability, autosomal dominant 20 | 2023-09-19 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001685531 | SCV001900879 | pathogenic | Intellectual disability, autosomal dominant 20 | 2021-12-02 | no assertion criteria provided | literature only |