Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000324325 | SCV000470655 | benign | Osteogenesis Imperfecta, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000358049 | SCV000470656 | benign | Ehlers-Danlos syndrome, arthrochalasia type | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001535048 | SCV001752026 | benign | not provided | 2019-04-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23849651, 30825231, 28738217) |