ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.1309+24G>A

gnomAD frequency: 0.08895  dbSNP: rs3751097
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 RCV001673818 SCV001883261 benign not provided 2018-07-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730935 SCV001981463 benign Congenital myasthenic syndrome 17 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730933 SCV001981464 benign Cenani-Lenz syndactyly syndrome 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730934 SCV001981465 benign Sclerosteosis 2 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673818 SCV005320255 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.