ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030526 SCV000053197 likely pathogenic Renal cysts and diabetes syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000030526 SCV000926176 pathogenic Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only

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