Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000436225 | SCV000525470 | likely benign | not specified | 2016-03-28 | 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. |
Invitae | RCV001503716 | SCV001708574 | likely benign | Glycogen storage disease type III | 2022-10-17 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001503716 | SCV004049977 | likely benign | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing |