ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.942A>G (p.Glu314=)

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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 RCV003008075 SCV003310111 likely benign Multiple acyl-CoA dehydrogenase deficiency 2024-07-01 criteria provided, single submitter clinical testing

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