Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000311071 | SCV000439099 | likely benign | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000830902 | SCV000972641 | benign | not provided | 2018-06-14 | 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. |