Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000481799 | SCV000565044 | benign | not specified | 2015-12-03 | 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. |
Athena Diagnostics Inc | RCV000576359 | SCV000677315 | benign | Hyperinsulinism-hyperammonemia syndrome | 2017-06-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000576359 | SCV002404517 | benign | Hyperinsulinism-hyperammonemia syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing |