ClinVar Miner

Submissions for variant NM_002299.4(LCT):c.3006G>A (p.Arg1002=)

gnomAD frequency: 0.00558  dbSNP: rs114815229
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
Illumina Laboratory Services, Illumina RCV000368031 SCV000416501 uncertain significance Lactose intolerance 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000404670 SCV000416502 uncertain significance Congenital lactase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001511576 SCV001718850 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003922418 SCV004741743 benign LCT-related condition 2019-06-02 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.