ClinVar Miner

Submissions for variant NM_000458.3(HNF1B):c.-232C>T

gnomAD frequency: 0.00015  dbSNP: rs142612536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000360560 SCV000483577 likely benign Renal cysts and diabetes syndrome 2016-06-14 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464192 SCV002738632 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 rs142612536, yet.

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