Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000185927 | SCV000238882 | benign | not specified | 2014-07-03 | 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. |
ARUP Laboratories, |
RCV001812180 | SCV001159542 | benign | not provided | 2020-04-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001516156 | SCV001724388 | benign | Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001833110 | SCV002076490 | likely benign | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2019-12-04 | no assertion criteria provided | clinical testing |