ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1720= (p.Ser574=)

gnomAD frequency: 0.01390  dbSNP: rs1169305
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438436 SCV000513248 benign not specified 2015-09-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000861653 SCV001002030 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003894808 SCV004710419 likely benign HNF1A-related disorder 2021-05-02 criteria provided, single submitter 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).
OMIM RCV000016077 SCV000036345 pathogenic Maturity-onset diabetes of the young type 3 2002-10-01 no assertion criteria provided literature only

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.