ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.147C>G (p.Ala49=)

gnomAD frequency: 0.00004  dbSNP: rs202193021
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000348519 SCV000336081 uncertain significance not provided 2015-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514714 SCV001722625 benign Deficiency of butyryl-CoA dehydrogenase 2022-12-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001514714 SCV002033235 likely benign Deficiency of butyryl-CoA dehydrogenase 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967729 SCV004782190 likely benign ACADS-related disorder 2022-11-17 criteria provided, single submitter 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).
CeGaT Center for Human Genetics Tuebingen RCV000348519 SCV005075484 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing ACADS: BP4, BP7

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