Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ai |
RCV002224407 | SCV002503051 | likely pathogenic | not provided | 2020-06-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002224407 | SCV002765309 | pathogenic | not provided | 2022-06-16 | criteria provided, single submitter | clinical testing | Identified in an individual with Tourette syndrome in published literature, however clinical and familial segregation information was not provided (Liu et al, 2020); Frameshift 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31673123) |
Genome- |
RCV003339935 | SCV004050423 | likely pathogenic | Intellectual disability, autosomal dominant 52 | 2023-04-11 | criteria provided, single submitter | clinical testing |