Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000842121 | SCV000984117 | likely benign | not provided | 2018-04-23 | 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 | RCV001088511 | SCV001083717 | benign | Congenital hyperammonemia, type I | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001088511 | SCV001452450 | likely benign | Congenital hyperammonemia, type I | 2020-05-02 | no assertion criteria provided | clinical testing |