ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.236A>T (p.Glu79Val)

gnomAD frequency: 0.00004  dbSNP: rs143753579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817832 SCV002069293 uncertain significance not specified 2018-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489886 SCV002784000 uncertain significance Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma 2021-08-02 criteria provided, single submitter clinical testing

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