Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000438822 | SCV000514604 | benign | not specified | 2015-03-24 | 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 |
RCV000861161 | SCV001001399 | benign | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000861161 | SCV002554659 | benign | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000861161 | SCV002809399 | likely benign | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2021-10-08 | criteria provided, single submitter | clinical testing |