ClinVar Miner

Submissions for variant NM_001010892.3(RSPH4A):c.-16_-12delinsCACGCCCCTTTCATCCA

dbSNP: rs727504884
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156259 SCV000205975 benign not specified 2013-12-27 criteria provided, single submitter clinical testing Benign based on high population frequency. Also - 5'UTR and outside Kozak.
Illumina Laboratory Services, Illumina RCV000275826 SCV000459731 uncertain significance Primary ciliary dyskinesia 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.