ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.542G>C (p.Gly181Ala)

gnomAD frequency: 0.00007  dbSNP: rs773315874
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001429537 SCV001632253 likely benign not provided 2024-06-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005005936 SCV005632360 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 2024-05-10 criteria provided, single submitter clinical testing

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