Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000613938 | SCV000722946 | likely benign | not specified | 2017-10-02 | 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 | RCV000915905 | SCV001061130 | likely benign | Deficiency of hydroxymethylglutaryl-CoA lyase | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000915905 | SCV004172986 | likely benign | Deficiency of hydroxymethylglutaryl-CoA lyase | 2023-04-11 | criteria provided, single submitter | clinical testing |