ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.1152C>T (p.Asp384=)

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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 RCV003066941 SCV003454409 likely benign Deficiency of butyryl-CoA dehydrogenase 2023-10-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004750258 SCV005350423 likely benign ACADS-related disorder 2024-03-20 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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