ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.750C>T (p.Tyr250=)

gnomAD frequency: 0.00021  dbSNP: rs144249535
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030534 SCV000053205 likely benign Renal cysts and diabetes syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
PreventionGenetics, part of Exact Sciences RCV000244023 SCV000304400 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727488 SCV000709053 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000727488 SCV002447579 benign not provided 2023-12-02 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464088 SCV002738619 uncertain significance 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 rs144249535, yet.

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