ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1080-18T>A

gnomAD frequency: 0.26140  dbSNP: rs11037882
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180027 SCV000232372 benign not specified 2014-07-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000180027 SCV000317227 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513854 SCV001721543 benign Exostoses, multiple, type 2 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001640272 SCV001857715 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001513854 SCV001933352 benign Exostoses, multiple, type 2 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701545 SCV001933363 benign Seizures-scoliosis-macrocephaly syndrome 2021-08-10 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316079 SCV004017512 benign Exostoses, multiple, type 1 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001640272 SCV005316185 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.