Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000125732 | SCV000169197 | benign | not specified | 2014-04-22 | 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. |
Illumina Laboratory Services, |
RCV000359020 | SCV000400809 | uncertain significance | Mitochondrial complex III deficiency nuclear type 1 | 2016-06-14 | criteria provided, single submitter | clinical testing |