ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.883C>T (p.Arg295Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000787123 SCV000926052 pathogenic Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
GeneDx RCV003106061 SCV003761880 likely pathogenic not provided 2023-01-23 criteria provided, single submitter clinical testing Not observed 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: 25536396, 23979948, 16249435, 25500806, 24476040, 20378641, 31825128, 27913849, 25700310, 24897035, 22034641, 36522156)

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