ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1217C>T (p.Ala406Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Medical University of Lodz RCV004801500 SCV005421129 likely pathogenic Maturity-onset diabetes of the young type 3 2024-12-11 criteria provided, single submitter clinical testing Segregation in family with disease specific for gene, WES data exclude other genetic factors.

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