Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000419336 | SCV000518667 | benign | not specified | 2016-02-22 | 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. |
Wong Mito Lab, |
RCV000499857 | SCV000598371 | benign | Mitochondrial DNA depletion syndrome 13 | 2017-08-10 | criteria provided, single submitter | reference population | The NM_012160.4:c.978A>G (NP_036292.2:p.Gln326=) [GRCH38: NC_000006.12:g.98905551T>C] variant in FBXL4 gene is interpretated to be a Benign based on ACMG guidelines (PMID: 25741868). This variant meets one or more of the following evidence codes reported in the ACMG-guideline. BS1:The minor allele frequency of this allele is high for Mitochondrial DNA depletion syndrome 13. BS2:Observation of the variant is in controls is inconsistent with penetrance of Mitochondrial DNA depletion syndrome 13. Based on this evidence code ClinGen Pathogenicity Calculator (PMID:28081714) suggested that the variant is Benign. |
Invitae | RCV000676935 | SCV001107097 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000676935 | SCV002563917 | benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | FBXL4: BP4, BP7, BS1, BS2 |
Mayo Clinic Laboratories, |
RCV000676935 | SCV000802754 | likely benign | not provided | 2016-03-09 | no assertion criteria provided | clinical testing |