ClinVar Miner

Submissions for variant NM_001985.3(ETFB):c.452C>T (p.Ser151Phe)

gnomAD frequency: 0.00019  dbSNP: rs74735908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864900 SCV001005780 likely benign Multiple acyl-CoA dehydrogenase deficiency 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV002245716 SCV002513105 uncertain significance not provided 2022-05-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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