Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001427529 | SCV001630213 | likely benign | Intellectual disability, CASK-related, X-linked | 2023-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002243206 | SCV002513673 | uncertain significance | not provided | 2022-05-13 | criteria provided, single submitter | clinical testing | Intronic +5 splice site variant in a gene for which loss of function is a known mechanism of disease, and both splice predictors and evolutionary conservation support a deleterious effect, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge |