ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.1654-11_1654-9delinsC

dbSNP: rs386134268
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Total submissions: 3
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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 RCV000030523 SCV000053194 uncertain Renal cysts and diabetes syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Athena Diagnostics Inc RCV000516222 SCV000613644 uncertain significance not specified 2017-02-14 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464084 SCV002738623 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 rs386134268, yet.

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