ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.771T>G (p.Val257=)

gnomAD frequency: 0.00003  dbSNP: rs138255469
Minimum review status: Collection method:
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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 RCV002119776 SCV002398599 likely benign Multiple acyl-CoA dehydrogenase deficiency 2023-12-31 criteria provided, single submitter clinical testing

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