ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.46+15G>A

gnomAD frequency: 0.00002  dbSNP: rs777164036
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002160475 SCV002420925 likely benign Deficiency of butyryl-CoA dehydrogenase 2022-09-01 criteria provided, single submitter clinical testing

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