ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.964-20C>G

dbSNP: rs570818940
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612313 SCV000719545 likely benign not specified 2017-06-01 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 RCV002063277 SCV002360497 benign Multiple acyl-CoA dehydrogenase deficiency 2025-01-03 criteria provided, single submitter clinical testing

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