Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000604579 | SCV000728966 | likely benign | not specified | 2017-09-21 | 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. |
Counsyl | RCV000665446 | SCV000789574 | likely benign | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2017-02-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000665446 | SCV002510556 | likely benign | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2024-01-11 | criteria provided, single submitter | clinical testing |