Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000431042 | SCV000529995 | likely benign | not specified | 2016-08-03 | 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 | RCV002059812 | SCV002468036 | likely benign | Glycogen storage disease, type V | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003311816 | SCV004010075 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | PYGM: BP4, BP7 |