Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000435446 | SCV000514968 | likely benign | not specified | 2017-10-05 | 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 | RCV000891993 | SCV001035846 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001835795 | SCV002076153 | benign | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2019-12-10 | no assertion criteria provided | clinical testing |