ClinVar Miner

Submissions for variant NM_004273.5(CHST3):c.-108+6T>G

dbSNP: rs886047159
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000288758 SCV000364259 uncertain significance Spondyloepiphyseal dysplasia congenita 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346084 SCV000364260 uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000402046 SCV000364261 uncertain significance Skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311804 SCV000364262 uncertain significance Larsen syndrome 2016-06-14 criteria provided, single submitter 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.