Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000269199 | SCV000474690 | uncertain significance | Congenital bile acid synthesis defect | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000307928 | SCV000474691 | uncertain significance | Spastic Paraplegia, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001485055 | SCV001689480 | likely benign | Spastic paraplegia | 2024-01-31 | criteria provided, single submitter | clinical testing |