ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.1008C>T (p.His336=)

gnomAD frequency: 0.00004  dbSNP: rs150268130
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595024 SCV000709050 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465736 SCV002754399 likely benign Maturity onset diabetes mellitus in young criteria provided, single submitter research HNF1B gene mutations are associated with early onset diabetes and pancreatic atrophy. It is also associated with multiple renal manifestations including renal cysts, Tubulointerstitial disease, glomerulocystic disease, renal hypoplasia, hypomagnesemia. However no sufficient evidence is found to ascertain the role of this particular variant rs150268130, yet.
Labcorp Genetics (formerly Invitae), Labcorp RCV000595024 SCV003244825 likely benign not provided 2024-07-24 criteria provided, single submitter clinical testing

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