ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1624-15G>A

gnomAD frequency: 0.00004  dbSNP: rs193922585
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030486 SCV000053156 uncertain Maturity-onset diabetes of the young type 3 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000436765 SCV000529383 likely benign not specified 2016-06-30 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.
Baylor Genetics RCV001294192 SCV001483027 uncertain significance Type 1 diabetes mellitus 20 2020-02-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002513265 SCV003214633 benign not provided 2023-09-04 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.