Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000126204 | SCV000169699 | benign | not specified | 2013-05-09 | 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. |
Eurofins Ntd Llc |
RCV000727125 | SCV000705968 | uncertain significance | not provided | 2017-02-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000727125 | SCV001024081 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001831922 | SCV002081615 | likely benign | Mitochondrial neurogastrointestinal encephalomyopathy | 2019-10-23 | no assertion criteria provided | clinical testing |