Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000430265 | SCV000528352 | likely benign | not specified | 2016-06-08 | 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. |
Labcorp Genetics |
RCV002063351 | SCV002379419 | likely benign | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2023-11-28 | criteria provided, single submitter | clinical testing |