ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.734-20C>A

gnomAD frequency: 0.00787  dbSNP: rs2460160
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124910 SCV000168350 benign not specified 2012-11-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001518157 SCV001726804 benign Multiple acyl-CoA dehydrogenase deficiency 2025-02-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001518157 SCV003800494 benign Multiple acyl-CoA dehydrogenase deficiency 2023-11-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714484 SCV005288983 benign not provided criteria provided, single submitter not provided

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