Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000609539 | SCV000727156 | likely benign | not specified | 2018-02-01 | 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 | RCV000896587 | SCV001040685 | likely benign | Glycogen storage disease, type V | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000896587 | SCV001454302 | likely benign | Glycogen storage disease, type V | 2020-09-16 | no assertion criteria provided | clinical testing |