ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.345-19C>T

gnomAD frequency: 0.00765  dbSNP: rs59527848
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030528 SCV000053199 benign Renal cysts and diabetes syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Eurofins Ntd Llc (ga) RCV000175611 SCV000227129 benign not specified 2014-07-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000993278 SCV001146115 benign not provided 2019-03-26 criteria provided, single submitter clinical testing
GeneDx RCV000993278 SCV001942911 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV000993278 SCV002428753 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464086 SCV002605447 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 rs59527848, yet.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315521 SCV004015769 benign Nonpapillary renal cell carcinoma 2023-07-07 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.