ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.323G>A (p.Gly108Asp)

dbSNP: rs387906951
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000023587 SCV000794793 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2017-10-17 criteria provided, single submitter clinical testing
OMIM RCV000023587 SCV000044878 pathogenic Deficiency of butyryl-CoA dehydrogenase 2010-06-01 no assertion criteria provided literature only

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