ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.625-83G>A

gnomAD frequency: 0.01034  dbSNP: rs150191962
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001575330 SCV001802298 likely benign not provided 2018-11-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803372 SCV002049756 benign Deficiency of butyryl-CoA dehydrogenase 2022-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003941026 SCV004756224 benign ACADS-related disorder 2019-07-18 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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