Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000501936 | SCV000598395 | uncertain significance | Mitochondrial DNA depletion syndrome 13 | 2017-08-10 | criteria provided, single submitter | reference population | The NM_012160.4:c.1103+13C>T (NP_036292.2:p.=) [GRCH38: NC_000006.12:g.98905413G>A] variant in FBXL4 gene is interpretated to be a Uncertain Significance - Insufficient 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. Based on this evidence code ClinGen Pathogenicity Calculator (PMID:28081714) suggested that the variant is Uncertain Significance - Insufficient Evidence. |
Invitae | RCV002056892 | SCV002477176 | likely benign | not provided | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000501936 | SCV003834042 | uncertain significance | Mitochondrial DNA depletion syndrome 13 | 2022-08-15 | criteria provided, single submitter | clinical testing |