ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.46del (p.Leu16fs)

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Total submissions: 2
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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 RCV000787258 SCV000926188 pathogenic Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
OMIM RCV000013483 SCV000033730 pathogenic Chromophobe renal cell carcinoma 2005-03-01 no assertion criteria provided literature only

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