ClinVar Miner

Submissions for variant NM_014049.4(ACAD9):c.[1030-1G>T];[1249C>T]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale RCV000201722 SCV000255966 pathogenic Acyl-CoA dehydrogenase family, member 9, deficiency of 2015-08-25 no assertion criteria provided clinical testing predicted to be deleterious using three different prediction softwares, namely SIFT, MutationTaster and Polyphen-2

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