ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.848T>C (p.Met283Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005052415 SCV005685649 uncertain significance not provided 2024-07-23 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; This variant is associated with the following publications: (PMID: 21224407, 36613572, 23348805)

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