Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000606809 | SCV000719802 | likely benign | not specified | 2017-12-21 | 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 |
RCV002529573 | SCV003295492 | likely benign | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2023-08-27 | criteria provided, single submitter | clinical testing |