ClinVar Miner

Submissions for variant NM_014384.3(ACAD8):c.1162G>A (p.Val388Met)

gnomAD frequency: 0.00111  dbSNP: rs139792723
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001432249 SCV001635014 likely benign Deficiency of isobutyryl-CoA dehydrogenase 2023-01-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001432249 SCV003822434 uncertain significance Deficiency of isobutyryl-CoA dehydrogenase 2023-08-29 criteria provided, single submitter clinical testing
GeneDx RCV003229895 SCV003927282 uncertain significance not provided 2022-11-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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