ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1566G>T (p.Met522Ile)

dbSNP: rs2135850753
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001799824 SCV002043810 uncertain significance not provided 2021-06-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21224407, 27535533)

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