Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000426501 | SCV000516810 | benign | not specified | 2015-09-21 | 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. |
Labcorp Genetics |
RCV000972115 | SCV001119809 | benign | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000972115 | SCV002554825 | benign | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing |