ClinVar Miner

Submissions for variant NM_024915.4(GRHL2):c.*41G>A

gnomAD frequency: 0.37317  dbSNP: rs3735713
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001669320 SCV001887152 benign not provided 2018-06-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702229 SCV001933948 benign Corneal dystrophy, posterior polymorphous, 4 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702228 SCV001933949 benign Autosomal dominant nonsyndromic hearing loss 28 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703152 SCV001933950 benign Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001669320 SCV005267355 benign not provided criteria provided, single submitter not provided

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.