Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Daryl Scott Lab, |
RCV001269305 | SCV001448652 | likely pathogenic | TCF12-related craniosynostosis | 2020-11-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002225821 | SCV002504290 | uncertain significance | not provided | 2022-01-05 | criteria provided, single submitter | clinical testing | Reported in a patient who had an alternate explanation for disease (Guillen Sacoto et al., 2020) and in two siblings with a neurodevelopmental disorder who inherited the variant from an unaffected parent (Wang et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33547006, 32693025, 33004838) |