Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000501894 | SCV000598478 | uncertain significance | Mitochondrial DNA depletion syndrome 13 | 2017-08-10 | criteria provided, single submitter | reference population | The NM_012160.4:c.1566C>T (NP_036292.2:p.Thr522=) [GRCH38: NC_000006.12:g.98875551G>A] variant in FBXL4 gene is interpretated to be a Uncertain Significance - Conflicting Evidence based on ACMG guidelines (PMID: 25741868). This variant meets one or more of the following evidence codes reported in the ACMG-guideline. PM2:This variant is absent in key population databases. BP4:Computational evidence/predictors indicate no impact on the FBXL4 structure, function, or protein-protein interaction. BP7:The variant is silent with non predicted splice impact. Based on this evidence code ClinGen Pathogenicity Calculator (PMID:28081714) suggested that the variant is Uncertain Significance - Conflicting Evidence. |
Gene |
RCV000827600 | SCV000969254 | likely benign | not provided | 2018-06-11 | 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 | RCV000827600 | SCV003477183 | likely benign | not provided | 2023-08-15 | criteria provided, single submitter | clinical testing |