ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.2033G>T (p.Gly678Val) (rs104893916)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169017 SCV000220161 likely pathogenic Multiple epiphyseal dysplasia 4 2014-03-16 criteria provided, single submitter literature only
OMIM RCV000023570 SCV000044861 pathogenic Achondrogenesis, type IB 1996-01-01 no assertion criteria provided literature only
GeneReviews RCV000055761 SCV000086701 pathologic Diastrophic dysplasia 2013-07-18 no assertion criteria provided curation Converted during submission to 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.