ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.766C>T (p.Pro256Ser)

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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 RCV000787148 SCV000926078 likely pathogenic Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
Athena Diagnostics Inc RCV000993282 SCV001146119 likely pathogenic not provided 2019-01-10 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/251088 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Damaging to protein function(s) relevant to disease mechanism.

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