Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000355806 | SCV000414237 | 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, |
RCV000264999 | SCV000483767 | likely benign | Hereditary hyperferritinemia with congenital cataracts | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000319738 | SCV000483768 | likely benign | Neuroferritinopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705495 | SCV000526077 | likely benign | not provided | 2020-10-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000355806 | SCV001114922 | benign | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2024-01-22 | criteria provided, single submitter | clinical testing |