Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000610941 | SCV000722084 | likely benign | not specified | 2017-08-31 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001392541 | SCV001594185 | likely benign | Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic | 2020-10-14 | criteria provided, single submitter | clinical testing |