Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000434849 | SCV000527565 | likely benign | not specified | 2017-09-06 | 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 | RCV002056173 | SCV002466217 | likely benign | Pyruvate dehydrogenase E2 deficiency | 2021-10-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000889512 | SCV002821664 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | DLAT: BP4, BP7 |
Prevention |
RCV003930279 | SCV004743578 | likely benign | DLAT-related condition | 2019-05-13 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |