Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000842115 | SCV000984111 | likely benign | not provided | 2018-05-03 | 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 | RCV000842115 | SCV002467983 | likely benign | not provided | 2021-12-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003344086 | SCV004048803 | likely benign | Mitochondrial complex 1 deficiency, nuclear type 6 | 2023-04-11 | criteria provided, single submitter | clinical testing |