Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000128342 | SCV000171935 | benign | not specified | 2014-04-09 | 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, |
RCV000394086 | SCV000478288 | likely benign | Leigh syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000394086 | SCV000627071 | benign | Leigh syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000999265 | SCV001155812 | uncertain significance | not provided | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000128342 | SCV002050937 | likely benign | not specified | 2021-12-10 | criteria provided, single submitter | clinical testing |