ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1614_1617del (p.Thr539fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Dr. Eberhard & Partner Dortmund RCV003577091 SCV004363585 likely pathogenic Maturity onset diabetes mellitus in young 2023-03-30 criteria provided, single submitter clinical testing The computational evidence is inconspicuous concerning splicing for this variant. It was absent from variant databases, control databases and from literature. Only the variant c.1611_1614delGCCC for p.Thr539Serfs*120 in proximity was listed in the literature

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