Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000293388 | SCV000426816 | uncertain significance | Congenital hyperammonemia, type I | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000603825 | SCV000719993 | likely benign | not specified | 2017-06-06 | 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 | RCV000293388 | SCV001020102 | likely benign | Congenital hyperammonemia, type I | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000293388 | SCV001452445 | uncertain significance | Congenital hyperammonemia, type I | 2020-01-08 | no assertion criteria provided | clinical testing |