ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.252del (p.Asp84fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000787239 SCV000926169 pathogenic Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only

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