Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124595 | SCV000168028 | benign | not specified | 2013-07-25 | 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. |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000625219 | SCV000744159 | benign | Congenital hyperammonemia, type I | 2017-05-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000625219 | SCV001761736 | benign | Congenital hyperammonemia, type I | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000124595 | SCV001922313 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000124595 | SCV001959492 | benign | not specified | no assertion criteria provided | clinical testing |