Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001004770 | SCV001164250 | pathogenic | Alternating hemiplegia of childhood 2 | 2021-09-17 | criteria provided, single submitter | clinical testing | This variant was foun de novo in a patient with Alternating hemiplegia of childhood. It was found independantly in another patient with the same phenotype. |
Institute of Human Genetics, |
RCV001004770 | SCV001428619 | uncertain significance | Alternating hemiplegia of childhood 2 | 2019-01-01 | criteria provided, single submitter | clinical testing | This variant was identified as de novo. |