ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.962+8_962+11del

dbSNP: rs138812713
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
Illumina Laboratory Services, Illumina RCV000271844 SCV000471530 benign Hereditary Multiple Osteochondromatosis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000860960 SCV001001150 benign Multiple congenital exostosis 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001573397 SCV001911720 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23439489, 17301954)
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573397 SCV001799214 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001573397 SCV001807903 likely benign not provided no assertion criteria provided clinical testing

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.