ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.220G>A (p.Val74Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005001384 SCV005626829 uncertain significance not provided 2024-07-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Department of Clinical Pathology, School of Medicine, Fujita Health University RCV004558026 SCV004218309 likely benign EBV-positive nodal T- and NK-cell lymphoma no assertion criteria provided research

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