ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.46+3G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990318 SCV004806827 likely benign Deficiency of butyryl-CoA dehydrogenase 2024-03-26 criteria provided, single submitter clinical testing

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