ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.490A>C (p.Lys164Gln)

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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 RCV001281301 SCV000926125 pathogenic Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
Molecular Biology Laboratory, Fundació Puigvert RCV001281301 SCV001425086 pathogenic Renal cysts and diabetes syndrome 2020-02-01 criteria provided, single submitter research

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