Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000506906 | SCV000602368 | likely benign | not specified | 2016-12-14 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000671330 | SCV000796292 | likely benign | Very long chain acyl-CoA dehydrogenase deficiency | 2017-12-15 | criteria provided, single submitter | clinical testing | |
Wong Mito Lab, |
RCV000671330 | SCV001365165 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2019-11-01 | criteria provided, single submitter | clinical testing | The NM_000018.3:c.1606-22C>T (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7224458C>T] 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. |