Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514695 | SCV000610999 | likely benign | not provided | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000514695 | SCV000969914 | benign | not provided | 2017-10-26 | 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. |
Labcorp Genetics |
RCV000514695 | SCV001035557 | benign | not provided | 2023-03-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000195781 | SCV000251780 | benign | not specified | 2014-04-02 | flagged submission | clinical testing | The variant is found in MITONUC-MITOP panel(s). |