ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.795+9G>A

gnomAD frequency: 0.00031  dbSNP: rs370703070
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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 RCV001443565 SCV001646542 likely benign Deficiency of butyryl-CoA dehydrogenase 2023-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908657 SCV004729869 likely benign ACADS-related disorder 2019-04-22 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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