Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000394546 | SCV000414232 | uncertain significance | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000312141 | SCV000483759 | likely benign | Hereditary hyperferritinemia with congenital cataracts | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000366661 | SCV000483760 | likely benign | Neuroferritinopathy | 2016-06-14 | criteria provided, single submitter | clinical testing |