ClinVar Miner

Submissions for variant NM_015295.2(SMCHD1):c.1034A>G (p.Gln345Arg) (rs1057519639)

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
Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital RCV000417316 SCV000328608 pathogenic Arhinia choanal atresia microphthalmia no assertion criteria provided research
Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital RCV000497013 SCV000328609 pathogenic Anosmia no assertion criteria provided research
OMIM RCV000417316 SCV000503075 pathogenic Arhinia choanal atresia microphthalmia 2017-02-27 no assertion criteria provided literature only

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.