ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.884G>A (p.Arg295His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000713806 SCV000342177 uncertain significance not provided 2016-07-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713806 SCV000844443 likely pathogenic not provided 2018-08-22 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/276870 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.
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000787122 SCV000926051 pathogenic Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only

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