Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000441458 | SCV000523298 | likely benign | not specified | 2017-06-21 | 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 | RCV000966838 | SCV001114194 | benign | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003902530 | SCV004720788 | benign | HIBCH-related condition | 2019-03-20 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |