ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.280G>T (p.Glu94Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002776551 SCV003035418 pathogenic Renal cysts and diabetes syndrome 2022-06-13 criteria provided, single submitter clinical testing

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