ClinVar Miner

Submissions for variant NM_004035.7(ACOX1):c.497A>G (p.Asn166Ser)

gnomAD frequency: 0.00167  dbSNP: rs145056278
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878989 SCV001021996 likely benign Acyl-CoA oxidase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004792568 SCV005412844 uncertain significance not provided 2023-12-29 criteria provided, single submitter clinical testing BS1, PP3
Natera, Inc. RCV000878989 SCV001463458 uncertain significance Acyl-CoA oxidase deficiency 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004738045 SCV005346181 likely benign ACOX1-related disorder 2024-04-11 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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