Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001265788 | SCV001443958 | uncertain significance | Inborn genetic diseases | 2018-07-02 | criteria provided, single submitter | clinical testing | |
NIHR Bioresource Rare Diseases, |
RCV001003960 | SCV001161969 | likely pathogenic | Iron accumulation in brain | no assertion criteria provided | research |