ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.36del (p.Tyr13fs)

dbSNP: rs2150304327
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003473080 SCV004194863 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2023-01-05 criteria provided, single submitter clinical testing
OMIM RCV000012807 SCV000033047 pathogenic Glutaric acidemia IIc 2003-07-01 no assertion criteria provided literature only

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