Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000432572 | SCV000526901 | likely benign | not specified | 2016-05-11 | 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 | RCV001496689 | SCV001701398 | likely benign | Pyruvate dehydrogenase E2 deficiency | 2023-10-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003392246 | SCV004133306 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | DLAT: BP4, BP7 |