ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.1654-9T>A

gnomAD frequency: 0.00009  dbSNP: rs200579660
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729098 SCV000856737 uncertain significance not provided 2017-09-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816796 SCV002066308 uncertain significance not specified 2019-03-29 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464300 SCV002738624 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 rs200579660, yet.
Labcorp Genetics (formerly Invitae), Labcorp RCV000729098 SCV003268435 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000729098 SCV005192826 uncertain significance not provided criteria provided, single submitter not provided

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