ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.3616A>C (p.Thr1206Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005054858 SCV005688459 uncertain significance not provided 2024-07-28 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

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