Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000128022 | SCV000171612 | benign | not specified | 2013-10-29 | 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 | RCV001512866 | SCV001720353 | benign | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001512866 | SCV002555275 | benign | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000676843 | SCV000802653 | likely benign | not provided | 2016-02-23 | no assertion criteria provided | clinical testing |