ClinVar Miner

Submissions for variant NM_014165.4(NDUFAF4):c.197A>G (p.Lys66Arg)

gnomAD frequency: 0.00061  dbSNP: rs148667964
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665298 SCV001875076 uncertain significance not provided 2024-07-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001665298 SCV003246519 likely benign not provided 2024-09-03 criteria provided, single submitter clinical testing

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