ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.878+8A>C

gnomAD frequency: 0.00001  dbSNP: rs910644475
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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 RCV001457979 SCV001661794 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2022-05-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900578 SCV004712889 likely benign ACADVL-related disorder 2020-10-19 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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