ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.1207-7C>T

dbSNP: rs1215174368
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518787 SCV000613641 uncertain significance not specified 2016-09-16 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464237 SCV002668364 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 rs1215174368 , yet.
Labcorp Genetics (formerly Invitae), Labcorp RCV003698795 SCV004465735 likely benign not provided 2023-05-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003979925 SCV004795969 likely benign HNF1B-related disorder 2024-03-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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