ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1403526456
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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 RCV001817763 SCV002069147 uncertain significance not specified 2018-04-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482373 SCV002789572 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 2024-01-18 criteria provided, single submitter clinical testing

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