Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000606517 | SCV000719550 | likely benign | not specified | 2017-06-01 | 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. |
Labcorp Genetics |
RCV000917383 | SCV001062658 | benign | Glycogen storage disease, type V | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000917383 | SCV002092325 | likely benign | Glycogen storage disease, type V | 2019-12-09 | no assertion criteria provided | clinical testing |