ClinVar Miner

Submissions for variant NM_000018.3(ACADVL):c.1533-4T>A (rs369986567)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000547159 SCV000796987 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2018-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000604631 SCV000724164 likely benign not specified 2018-03-08 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.
Invitae RCV000547159 SCV000654937 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2017-01-27 criteria provided, single submitter clinical testing

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