ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.11992+35A>G

gnomAD frequency: 0.13391  dbSNP: rs12042189
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756254 SCV000884004 benign not specified 2018-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001662804 SCV001874651 benign not provided 2018-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702556 SCV001933138 benign Lethal Kniest-like syndrome 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702837 SCV001933139 benign Schwartz-Jampel syndrome 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001662804 SCV005286206 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.