Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV000760207 | SCV000890037 | likely pathogenic | Neurodegeneration with brain iron accumulation 5 | 2017-04-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000999424 | SCV001156032 | pathogenic | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing |