ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1623T>C (p.Asp541=)

dbSNP: rs1580423557
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000978261 SCV001126189 likely benign Multiple acyl-CoA dehydrogenase deficiency 2022-04-13 criteria provided, single submitter clinical testing

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