Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000725059 | SCV000333636 | likely pathogenic | not provided | 2015-08-11 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000316051 | SCV000800696 | uncertain significance | Smith-Lemli-Opitz syndrome | 2018-04-20 | criteria provided, single submitter | clinical testing |