Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760472 | SCV000890361 | pathogenic | not provided | 2020-09-02 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29100089, 33796307) |
Institute for Genomic Statistics and Bioinformatics, |
RCV000516157 | SCV001441613 | pathogenic | Intellectual disability, autosomal dominant 54 | criteria provided, single submitter | clinical testing | ACMG classification: pathogenic (class 5: PVS1, PM2, PP5) | |
Laboratory of Molecular Genetics |
RCV000577898 | SCV000583487 | likely pathogenic | Intellectual disability | 2017-07-03 | no assertion criteria provided | research | |
OMIM | RCV000516157 | SCV000612156 | pathogenic | Intellectual disability, autosomal dominant 54 | 2017-12-08 | no assertion criteria provided | literature only |