Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000428399 | SCV000518780 | benign | not specified | 2017-01-04 | 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 |
RCV001517946 | SCV001726556 | benign | Glycogen storage disease IXa1 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000675939 | SCV000801668 | likely benign | not provided | 2017-05-03 | no assertion criteria provided | clinical testing |