Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440239 | SCV000517593 | benign | not specified | 2015-12-02 | 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 | RCV001509616 | SCV001716437 | benign | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001509616 | SCV001934144 | benign | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000676752 | SCV000802553 | benign | not provided | 2016-02-16 | no assertion criteria provided | clinical testing |