Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000939802 | SCV001085653 | benign | Very long chain acyl-CoA dehydrogenase deficiency | 2023-06-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001091166 | SCV001247039 | uncertain significance | not provided | 2019-12-01 | criteria provided, single submitter | clinical testing | |
Wong Mito Lab, |
RCV000939802 | SCV001365115 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2019-11-01 | criteria provided, single submitter | clinical testing | The NM_000018.3:c.1605+7G>A (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7224400G>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. |
Natera, |
RCV000939802 | SCV001455189 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2020-01-24 | no assertion criteria provided | clinical testing |