Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000430566 | SCV000523208 | likely benign | not specified | 2016-02-16 | 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 |
RCV001456950 | SCV001660744 | likely benign | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2023-10-03 | criteria provided, single submitter | clinical testing |