Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000387720 | SCV000414226 | likely benign | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000266955 | SCV000483747 | likely benign | Hereditary hyperferritinemia with congenital cataracts | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000324564 | SCV000483748 | likely benign | Neuroferritinopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001778920 | SCV002015692 | likely benign | not provided | 2021-05-12 | criteria provided, single submitter | clinical testing |