Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV001028002 | SCV001365091 | likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2019-11-01 | criteria provided, single submitter | clinical testing | The NM_000018.3:c.1241A>C (NP_000009.1:p.Glu414Ala) [GRCH38: NC_000017.11:g.7223702A>C] variant in ACADVL gene is interpretated to be Likely pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PM1, PM3, PP3, PP4 |
Baylor Genetics | RCV001028002 | SCV004212737 | likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2023-08-22 | criteria provided, single submitter | clinical testing | |
Biochemical Molecular Genetic Laboratory, |
RCV001028002 | SCV001190765 | likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2020-02-05 | no assertion criteria provided | clinical testing |