ClinVar Miner

Submissions for variant NM_003635.4(NDST2):c.25C>T (p.Arg9Cys)

gnomAD frequency: 0.00003  dbSNP: rs368488804
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paul Sabatier University EA-4555, Paul Sabatier University RCV000207388 SCV000259166 likely benign Anophthalmia-microphthalmia syndrome 2013-01-01 criteria provided, single submitter clinical testing rare variant, predicted damaging in silico (Polyphen-2, SIFT), compound heterozygosity
Breakthrough Genomics, Breakthrough Genomics RCV004705037 SCV005221214 likely benign not provided criteria provided, single submitter not provided

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.