ClinVar Miner

Submissions for variant NM_207122.1(EXT2):c.861_1173+5287del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819585 SCV000960253 pathogenic Exostoses, multiple, type 2 2018-10-09 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing exons 6-7 and part of exon 5 (c.861_1173+5287del) of the EXT2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. A similar deletion has been observed in an individual affected with hereditary multiple osteochondromatosis (PMID: 22258776). Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 19810120). For these reasons, this variant has been classified as Pathogenic.

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.