ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.522C>T (p.Gly174=)

gnomAD frequency: 0.00169  dbSNP: rs143925225
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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 RCV002066319 SCV002490673 benign Deficiency of butyryl-CoA dehydrogenase 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003334017 SCV004042556 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing ACADS: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003334017 SCV005234379 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003915798 SCV004735713 likely benign ACADS-related disorder 2022-05-20 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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