Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000841367 | SCV000983329 | likely benign | not provided | 2018-04-17 | 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 | RCV001516126 | SCV001724353 | benign | 3-methylglutaconic aciduria, type VIIB | 2021-10-24 | criteria provided, single submitter | clinical testing |