ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) (rs387907170)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210651 SCV000263007 likely pathogenic Inborn genetic diseases 2014-07-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Institute of Human Genetics,Klinikum rechts der Isar RCV000578325 SCV000680215 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2017-10-24 criteria provided, single submitter clinical testing
OMIM RCV000024305 SCV000045596 pathogenic Glutaric acidemia iic, late-onset 2007-08-01 no assertion criteria provided literature only

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