ClinVar Miner

Submissions for variant NM_001365902.3(NFIX):c.362G>A (p.Arg121His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005205732 SCV005848441 pathogenic not provided 2024-08-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 22982744, 25356970, 22301465)

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