ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.63-10C>T

dbSNP: rs2142960638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001498870 SCV001703624 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2023-10-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003966020 SCV004785232 likely benign ACADVL-related disorder 2023-10-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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