ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1827+10G>A (rs766755156)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000936851 SCV001082624 likely benign not provided 2018-09-24 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200730 SCV001365233 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1827+10G>A (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7224894G>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 RCV001200730 SCV001707211 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2018-09-20 criteria provided, single submitter clinical testing

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