Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Molecular Genetics |
RCV000782013 | SCV000920475 | likely pathogenic | not provided | 2017-11-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000782013 | SCV001247854 | pathogenic | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | SHANK3: PVS1:Strong, PM2, PS2:Moderate, PS4:Moderate |
Gene |
RCV000782013 | SCV001776415 | pathogenic | not provided | 2021-10-27 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation as the last 180 amino acids are replaced with 13 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32050889) |