Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000443695 | SCV000522282 | benign | not specified | 2016-09-15 | 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 | RCV000540228 | SCV000656657 | benign | 3-methylglutaconic aciduria, type VIIB | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002263682 | SCV002544588 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | CLPB: BP4, BS1, BS2 |