Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Sydney Children's Hospital, |
RCV001594416 | SCV001483502 | pathogenic | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 2021-03-04 | criteria provided, single submitter | clinical testing | The p.His1052Pro variant was identified de novo in a patient with characteristic features of CHEDDA syndrome . The variant is predicted to disrupt the critical HX domain where all other patients with CHEDDA syndrome have their variants. |
Laboratoire de Génétique Moléculaire, |
RCV002279971 | SCV002568841 | likely pathogenic | not provided | criteria provided, single submitter | clinical testing | ||
Solve- |
RCV001594416 | SCV005091256 | likely pathogenic | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 2022-06-01 | no assertion criteria provided | provider interpretation | Variant confirmed as disease-causing by referring clinical team |