ClinVar Miner

Submissions for variant NM_000458.3(HNF1B):c.-178G>A

gnomAD frequency: 0.00528  dbSNP: rs148442901
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000268055 SCV000402442 likely benign Renal cysts and diabetes syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001582965 SCV001811894 likely benign not provided 2018-08-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820964 SCV002072000 benign not specified 2019-04-03 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464188 SCV002605451 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 rs148442901, yet.

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