Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000592571 | SCV000704776 | uncertain significance | not provided | 2016-12-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087177 | SCV000770852 | likely benign | Niemann-Pick disease type C1 | 2019-12-31 | criteria provided, single submitter | clinical testing |