Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000420287 | SCV000514605 | likely benign | not specified | 2016-11-07 | 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 | RCV001424388 | SCV001626985 | likely benign | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001424388 | SCV002554581 | likely benign | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing |