Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000432937 | SCV000516705 | likely benign | not specified | 2018-01-18 | 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. |
Counsyl | RCV000671356 | SCV000796322 | likely benign | Very long chain acyl-CoA dehydrogenase deficiency | 2017-12-15 | criteria provided, single submitter | clinical testing | |
Wong Mito Lab, |
RCV000671356 | SCV001365169 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2019-11-01 | criteria provided, single submitter | clinical testing | The NM_000018.3:c.1751+18G>A (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7224732G>A] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant dose not meet any evidence codes reported in the ACMG guidelines. |
Invitae | RCV000671356 | SCV002402191 | likely benign | Very long chain acyl-CoA dehydrogenase deficiency | 2024-01-29 | criteria provided, single submitter | clinical testing |