ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.380T>A (p.Leu127His) (rs121964956)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012810 SCV000033050 pathogenic Glutaric acidemia IIC 2009-03-01 no assertion criteria provided literature only
SingHealth Duke-NUS Institute of Precision Medicine RCV000721976 SCV000853130 likely pathogenic Multiple acyl-CoA dehydrogenase deficiency 2017-06-07 no assertion criteria provided curation

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