Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000435053 | SCV000513088 | benign | not specified | 2015-06-24 | 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 | RCV000910868 | SCV001055919 | likely benign | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000910868 | SCV002795187 | likely benign | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2022-01-28 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000910868 | SCV002093334 | likely benign | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2020-05-12 | no assertion criteria provided | clinical testing |