ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.664-39_664-38del

dbSNP: rs34029730
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
PreventionGenetics, part of Exact Sciences RCV000247599 SCV000302958 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001640471 SCV001858887 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800622 SCV002045522 benign Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001800622 SCV002095133 benign Mucopolysaccharidosis, MPS-III-A 2019-09-27 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.